1 |
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing.
42
61
|
Shin YL...Jang MA
|
32174067 |
2020 |
2 |
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.
61
42
|
Kosho T...Yamada S
|
31905796 |
2019 |
3 |
Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome.
42
61
|
Lavoie M...Reese J
|
31791984 |
2019 |
4 |
Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests.
61
52
|
Sobey G
|
24994860 |
2015 |
5 |
The Ehlers-Danlos syndrome.
52
61
|
Malfait F...De Paepe A
|
24443025 |
2014 |
6 |
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
54
61
|
Kosho T...Matsumoto N
|
20503305 |
2010 |
7 |
Tenascin-X increases the stiffness of collagen gels without affecting fibrillogenesis.
54
61
|
Margaron Y...Lethias C
|
20089348 |
2010 |
8 |
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.
54
61
|
Plancke A...Khau Van Kien P
|
19455184 |
2009 |
9 |
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
54
61
|
Morisaki H...Morisaki T
|
19639654 |
2009 |
10 |
Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction.
54
61
|
Ohkuchi A...Suzuki M
|
19751346 |
2009 |
11 |
Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections.
54
61
|
Nakamura M...Aizawa T
|
19477391 |
2009 |
12 |
Determination of beta4-galactosyltransferase-7 activity using high-performance liquid chromatography-electrospray ionization tandem mass spectrometry.
54
61
|
Kuhn J...Gotting C
|
19133250 |
2009 |
13 |
Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries.
54
61
|
Boudko SP...Schumacher MA
|
18805790 |
2008 |
14 |
Vascular type of Ehlers-Danlos syndrome.
61
54
|
Watanabe A...Shimada T
|
19023163 |
2008 |
15 |
Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV.
61
54
|
Mandeville K...Renton S
|
18485758 |
2008 |
16 |
Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice.
54
61
|
Egging DF...Schalkwijk J
|
18335242 |
2008 |
17 |
FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts.
54
61
|
Zoppi N...Colombi M
|
18405669 |
2008 |
18 |
Natural variation in four human collagen genes across an ethnically diverse population.
54
61
|
Chan TF...Kwok PY
|
18272325 |
2008 |
19 |
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome.
54
61
|
Gotte M...Kiesel L
|
18158310 |
2008 |
20 |
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies.
54
61
|
Mataix J...Climent JM
|
18284404 |
2008 |
21 |
A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.
54
61
|
Lee ST...Ki CS
|
18389341 |
2008 |
22 |
Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus.
61
54
|
Imura K...Sato I
|
18595676 |
2008 |
23 |
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.
54
61
|
Voermans NC...van Engelen BG
|
17702048 |
2007 |
24 |
The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis.
54
61
|
Ruhland C...Seidler DG
|
17651433 |
2007 |
25 |
Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome.
61
54
|
Blaker H...Autschbach F
|
17487505 |
2007 |
26 |
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
54
61
|
Cabral WA...Marini JC
|
17206620 |
2007 |
27 |
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
54
61
|
Malfait F...De Paepe A
|
17211858 |
2007 |
28 |
Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition.
54
61
|
Egging D...Peeters A
|
17453911 |
2007 |
29 |
Interactions of human tenascin-X domains with dermal extracellular matrix molecules.
61
54
|
Egging D...Schalkwijk J
|
17033827 |
2007 |
30 |
A model of tenascin-X integration within the collagenous network.
61
54
|
Lethias C...Exposito JY
|
17078949 |
2006 |
31 |
A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations.
61
54
|
Demirogullari B...Kale N
|
16863833 |
2006 |
32 |
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
61
54
|
Seidler DG...Gotte M
|
16583246 |
2006 |
33 |
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
61
54
|
Malfait F...De Paepe A
|
16816023 |
2006 |
34 |
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.
61
54
|
Wenstrup RJ...Birk DE
|
16492673 |
2006 |
35 |
Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X.
61
54
|
Zweers MC...Schalkwijk J
|
16567571 |
2006 |
36 |
Dermal connective tissue development in mice: an essential role for tenascin-X.
61
54
|
Egging DF...Schalkwijk J
|
16331473 |
2006 |
37 |
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
54
61
|
Gomez-Garre P...Serratosa JM
|
15994863 |
2006 |
38 |
Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.
54
61
|
Makareeva E...Leikin S
|
16407265 |
2006 |
39 |
Structural abnormalities of the cornea and lid resulting from collagen V mutations.
61
54
|
Segev F...Birk DE
|
16431952 |
2006 |
40 |
Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome.
54
61
|
Yassin OM...Rihani FB
|
16937863 |
2006 |
41 |
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome.
54
61
|
Bristow J...Schalkwijk J
|
16278880 |
2005 |
42 |
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
61
54
|
Giunta C...Steinmann B
|
15979919 |
2005 |
43 |
Caffey disease: an unlikely collagenopathy.
54
61
|
Glorieux FH
|
15864344 |
2005 |
44 |
Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.
54
61
|
Lindor NM...Bristow J
|
15793839 |
2005 |
45 |
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
61
54
|
Giunta C...Steinmann B
|
15666309 |
2005 |
46 |
Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components.
61
54
|
Zweers MC...Lamme EN
|
15558324 |
2005 |
47 |
Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.
61
54
|
Gotte M...Kresse H
|
15859521 |
2005 |
48 |
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
54
61
|
Sheen VL...Walsh CA
|
15668422 |
2005 |
49 |
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
61
54
|
Malfait F...De Paepe A
|
15389701 |
2004 |
50 |
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
54
61
|
Persikov AV...Brodsky B
|
15365990 |
2004 |
51 |
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
61
54
|
Colige A...Nusgens BV
|
15373769 |
2004 |
52 |
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
61
54
|
Faiyaz-Ul-Haque M...Teebi AS
|
15211654 |
2004 |
53 |
Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.
54
61
|
Wenstrup RJ...Birk DE
|
15095409 |
2004 |
54 |
A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.
54
61
|
Peeters AC...Schalkwijk J
|
15366699 |
2004 |
55 |
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
61
54
|
Schwarze U...Byers PH
|
15077201 |
2004 |
56 |
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology.
54
61
|
Zweers MC...Schalkwijk J
|
15102077 |
2004 |
57 |
Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.
54
61
|
Zoppi N...Colombi M
|
14970208 |
2004 |
58 |
Exclusion of candidate genes in a family with arterial tortuosity syndrome.
61
54
|
Gardella R...Colombi M
|
15054833 |
2004 |
59 |
Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV.
61
54
|
Fuchs JR...Fishman SJ
|
14966763 |
2004 |
60 |
Vascular Ehlers-Danlos syndrome.
54
61
|
Germain DP...Herrera-Guzman Y
|
15127738 |
2004 |
61 |
Tenascins: regulation and putative functions during pathological stress.
61
54
|
Chiquet-Ehrismann R...Chiquet M
|
12845616 |
2003 |
62 |
Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase.
61
54
|
Wang WM...Greenspan DS
|
12646579 |
2003 |
63 |
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.
54
61
|
Kroes HY...van Essen AJ
|
12694234 |
2003 |
64 |
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
61
54
|
Furukawa K...Okajima T
|
12417421 |
2002 |
65 |
Localization and analysis of the principal promoter for human tenascin-X.
54
61
|
Wijesuriya SD...Miller WL
|
12376099 |
2002 |
66 |
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions.
61
54
|
Koppens PF...Degenhart HJ
|
12354783 |
2002 |
67 |
Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.
61
54
|
Hassan I...Gloviczki P
|
12173720 |
2002 |
68 |
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
54
61
|
Giunta C...Steinmann B
|
11992482 |
2002 |
69 |
Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.
61
54
|
Mao JR...Bristow J
|
11925569 |
2002 |
70 |
Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3.
61
54
|
Colige A...Nusgens BV
|
11741898 |
2002 |
71 |
Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.
61
54
|
Watanabe A...Kuriyama T
|
11843319 |
2002 |
72 |
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
54
61
|
Schwarze U...Byers PH
|
11577371 |
2001 |
73 |
Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer.
54
61
|
Wu J...Shinkai H
|
11532373 |
2001 |
74 |
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
54
61
|
Schalkwijk J...Bristow J
|
11642233 |
2001 |
75 |
Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis.
54
61
|
Fernandes RJ...Apte SS
|
11408482 |
2001 |
76 |
Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene.
61
54
|
Jansen T...Altmeyer P
|
11359405 |
2001 |
77 |
Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.
61
54
|
Nishiyama Y...Katayama Y
|
11168790 |
2001 |
78 |
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.
54
61
|
Giunta C...Steinmann B
|
10923041 |
2000 |
79 |
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.
54
61
|
Wenstrup RJ...Cole WG
|
10777716 |
2000 |
80 |
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
61
54
|
Nuytinck L...De Paepe A
|
10739762 |
2000 |
81 |
Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin.
54
61
|
De Panfilis G...Colombi M
|
10651716 |
2000 |
82 |
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.
61
54
|
Raff ML...Byers PH
|
10982177 |
2000 |
83 |
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
54
61
|
Giunta C...Steinmann B
|
10602121 |
2000 |
84 |
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
54
61
|
Colige A...Nusgens BV
|
10417273 |
1999 |
85 |
Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
61
54
|
Giunta C...Steinmann B
|
10073586 |
1999 |
86 |
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
54
61
|
Gilchrist D...Byers PH
|
10051163 |
1999 |
87 |
Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV.
54
61
|
Collins MH...Byers PH
|
9841712 |
1999 |
88 |
Cloning and characterization of a third human lysyl hydroxylase isoform.
54
61
|
Passoja K...Kivirikko KI
|
9724729 |
1998 |
89 |
Genetic diseases with rheumatic manifestations in children.
61
54
|
Prahalad S...Colbert RA
|
9746866 |
1998 |
90 |
Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV.
61
54
|
Milewicz DM
|
9649943 |
1998 |
91 |
A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.
61
54
|
Pajunen L...Myllyla R
|
9502428 |
1998 |
92 |
Effect of dexamethasone on the assembly of the matrix of fibronectin and on its receptors organization in Ehlers-Danlos syndrome skin fibroblasts.
61
54
|
Zoppi N...Colombi M
|
10452818 |
1998 |
93 |
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
54
61
|
Schwarze U...Byers PH
|
9399899 |
1997 |
94 |
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
54
61
|
Byers PH...Schwarze U
|
9295084 |
1997 |
95 |
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
54
61
|
Burch GH...Bristow J
|
9288108 |
1997 |
96 |
Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.
61
54
|
Burrows NP...Pope FM
|
9499606 |
1997 |
97 |
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.
54
61
|
Smith LT...Byers PH
|
9036918 |
1997 |
98 |
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.
61
54
|
Liu X...Jaenisch R
|
9050868 |
1997 |
99 |
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
61
54
|
De Paepe A...Naeyaert JM
|
9042913 |
1997 |
100 |
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
61
54
|
Heikkinen J...Myllyla R
|
8981946 |
1997 |
101 |
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
54
61
|
Nicholls AC...Pope FM
|
8950675 |
1996 |
102 |
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
61
54
|
Wenstrup RJ...Cole WG
|
8923000 |
1996 |
103 |
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.
61
54
|
Pope FM...Richards AJ
|
8881656 |
1996 |
104 |
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
54
61
|
Toriello HV...Greenspan DS
|
8673139 |
1996 |
105 |
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
54
61
|
Mackay K...Dalgleish R
|
8884076 |
1996 |
106 |
Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome.
54
61
|
Proszynska K...Lorenc RS
|
8816205 |
1996 |
107 |
Histomorphometric parameters and susceptibility to neutrophil elastase degradation of skin elastic fibres from healthy individuals and patients with Marfan syndrome, Ehlers-Danlos type IV, and pseudoxanthoma elasticum.
54
61
|
Berteretche MV...Godeau G
|
8547032 |
1995 |
108 |
Cerebrovascular complications in Ehlers-Danlos syndrome type IV.
54
61
|
North KN...Byers PH
|
8526472 |
1995 |
109 |
Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
61
54
|
Chiodo AA...Bateman JF
|
7487954 |
1995 |
110 |
Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation.
54
61
|
Ades LC...Bateman JF
|
7546986 |
1995 |
111 |
Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
61
54
|
Heikkinen J...Myllyla R
|
7713497 |
1994 |
112 |
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
54
61
|
Carr AJ...Cole WG
|
8071956 |
1994 |
113 |
Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone.
54
61
|
Moro L...Barlati S
|
8186768 |
1994 |
114 |
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
61
54
|
Nuytinck L...Leroy J
|
8019562 |
1994 |
115 |
The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.
54
61
|
Richards A...Pope FM
|
8411057 |
1993 |
116 |
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
61
54
|
Milewicz DM...Byers PH
|
8317500 |
1993 |
117 |
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
54
61
|
Lloyd J...Pope FM
|
8320698 |
1993 |
118 |
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.
61
54
|
Narcisi P...Kuivaniemi H
|
8098182 |
1993 |
119 |
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.
61
54
|
Hautala T...Myllyla R
|
8449506 |
1993 |
120 |
Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.
54
61
|
Wu Y...Prockop DJ
|
8477261 |
1993 |
121 |
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
54
61
|
Richards AJ...Pope FM
|
1352273 |
1992 |
122 |
A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
61
54
|
Chiodo AA...Cole WG
|
1556139 |
1992 |
123 |
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.
54
61
|
Richards AJ...Pope FM
|
1370809 |
1992 |
124 |
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.
54
61
|
Sillence DO...Cole WG
|
1757960 |
1991 |
125 |
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.
61
54
|
D'Alessio M...Hollister DW
|
1867198 |
1991 |
126 |
Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.
54
61
|
Chan D...Cole WG
|
1905723 |
1991 |
127 |
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.
54
61
|
Lee B...Superti-Furga A
|
1998337 |
1991 |
128 |
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
61
54
|
Vasan NS...Prockop DJ
|
1990839 |
1991 |
129 |
Clinical screening for collagen defects in connective tissue diseases.
61
54
|
Cohn DH...Byers PH
|
2286029 |
1990 |
130 |
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
61
54
|
Cole WG...Bateman JF
|
2145268 |
1990 |
131 |
Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.
61
54
|
Kuivaniemi H...Prockop DJ
|
2365710 |
1990 |
132 |
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.
54
61
|
Kontusaari S...Prockop DJ
|
2349939 |
1990 |
133 |
[Structural characteristics of collagens from the skin and rib cartilage of patients with Ehlers-Danlos syndrome type II].
54
61
|
Sokolov BP...Kalinin VN
|
2343586 |
1990 |
134 |
Myopic regression and recurrent Salzmann nodule degeneration after laser in situ keratomileusis in Ehlers Danlos Syndrome.
61
|
Hopping GC...Moshirfar M
|
32426553 |
2020 |
135 |
Primary Total Hip Arthroplasty in Patients With Ehlers-Danlos Syndrome: A Retrospective Matched-Cohort Study.
61
|
Guier C...Wilke B
|
32577483 |
2020 |
136 |
Myofascial Flap Closure in Treatment for Patients With Craniocervical Instability and Ehlers-Danlos Syndrome.
61
|
Lu C...Otterburn DM
|
32187067 |
2020 |
137 |
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
61
|
Gao Y...Wu X
|
32291442 |
2020 |
138 |
Vascular Ehlers-Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol?
61
|
Gorosabel MC...Matyas G
|
31693161 |
2020 |
139 |
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.
61
|
Delbaere S...Malfait F
|
31862401 |
2020 |
140 |
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
61
|
Green C...van Dijk FS
|
32572181 |
2020 |
141 |
Comment on "Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review".
61
|
Grahame R...Henderson F
|
32504190 |
2020 |
142 |
Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome.
61
|
Vishwanath N...Layne MD
|
32482891 |
2020 |
143 |
Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review".
61
|
Palmer S...Young G
|
32488770 |
2020 |
144 |
The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the ehlers-danlos syndrome (heds) or hypermobility spectrum disorder (hsd) with multidirectional shoulder instability: an observational study.
61
|
Spanhove V...Cools A
|
32026810 |
2020 |
145 |
Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications.
61
|
Olubajo F...Choudhari KA
|
32197145 |
2020 |
146 |
The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS).
61
|
Kohn A...Chang C
|
31267471 |
2020 |
147 |
Anesthetic management of a patient with musculocontractural Ehlers-Danlos syndrome undergoing scoliosis surgery.
61
|
Wakabayashi R...Kawamata M
|
32529513 |
2020 |
148 |
Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon.
61
|
Paige SL...Collins RT
|
32518415 |
2020 |
149 |
Gynecologic Management of Pediatric and Adolescent Patients with Ehlers-Danlos Syndrome.
61
|
Hernandez AMC...Dietrich JE
|
31883462 |
2020 |
150 |
Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report.
61
|
Wan T...Huang X
|
32471395 |
2020 |
151 |
Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis.
61
|
Guven S...Celbis O
|
32442117 |
2020 |
152 |
Anterior Capsule Augmentation and Posterior Glenohumeral Capsular Reconstruction With Human Dermal Allograft for Multidirectional Shoulder Instability.
61
|
Gallagher F...Wong IH
|
32489841 |
2020 |
153 |
The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study.
61
|
Leganger J...Burcharth J
|
32412854 |
2020 |
154 |
Understanding hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders in the context of childbearing: An international qualitative study.
61
|
Pezaro DS...Reinhold DE
|
32535291 |
2020 |
155 |
A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder.
61
|
Celletti C...Strano S
|
32434316 |
2020 |
156 |
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
61
|
Angwin C...Ghali N
|
32467296 |
2020 |
157 |
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
61
|
Ayoub S...van Dijk FS
|
32091183 |
2020 |
158 |
[Pulmonary vascular Ehlers-Danlos syndrome: a clinicopathological analysis of three cases].
61
|
Liu CP...Chen ZC
|
32392932 |
2020 |
159 |
Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome.
61
|
Syx D...Malfait AM
|
32483055 |
2020 |
160 |
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
61
|
Lautrup CK...Kosho T
|
32130795 |
2020 |
161 |
Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome.
61
|
Jayarajan SN...Jim J
|
32423364 |
2020 |
162 |
Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.
61
|
Ritelli M...Colombi M
|
32414079 |
2020 |
163 |
Ehlers-Danlos syndrome with huge bladder diverticulum in pregnancy - A rare and interesting case report.
61
|
Pradhan N...Sundaresh DC
|
32480169 |
2020 |
164 |
Direct Distal Renal Artery Aneurysm Repair.
61
|
Jayet J...Koskas F
|
32402807 |
2020 |
165 |
Arthroscopic Ligamentum Teres Reconstruction: Minimum 2-Year Patient-Reported Outcomes With Subanalysis of Patients With Ehlers-Danlos Syndrome.
61
|
Rosinsky PJ...Domb BG
|
32360268 |
2020 |
166 |
Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report.
61
|
Liu YA...Lee AF
|
32338564 |
2020 |
167 |
Does muscle strength change over time in patients with hypermobile Ehlers-Danlos syndrome/ Hypermobility Spectrum Disorder? An 8-year follow-up study.
61
|
Coussens M...Rombaut L
|
32293111 |
2020 |
168 |
Posterior Shoulder Instability: Surgical Outcomes and Risk of Failure in Adolescence.
61
|
Asturias AM...Edmonds EW
|
32125876 |
2020 |
169 |
Mechanical allodynia in mice with tenascin-X deficiency associated with Ehlers-Danlos syndrome.
61
|
Okuda-Ashitaka E...Matsumoto KI
|
32300146 |
2020 |
170 |
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study.
61
|
Lisi C...Savasta S
|
28211643 |
2020 |
171 |
Successful endovascular treatment of multiple systemic aneurysms in a patient with vascular Ehlers-Danlos syndrome.
61
|
Li X...Chen G
|
32318814 |
2020 |
172 |
Bariatric Surgery is feasible in patients with Ehlers-Danlos Syndrome.
61
|
Verdure L...Blanchard C
|
32417148 |
2020 |
173 |
A review of Ehlers-Danlos syndrome.
61
|
Miller E...Grosel JM
|
32175940 |
2020 |
174 |
Zinc and Its Transporters in Epigenetics.
61
|
Brito S...Lee JS
|
32274919 |
2020 |
175 |
Relationship of rare disorder latent clusters to anxiety and depression symptoms.
61
|
Bogart KR...Dermody SS
|
31855040 |
2020 |
176 |
Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome.
61
|
Wang XJ...Camilleri M
|
32306189 |
2020 |
177 |
Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center Experience.
61
|
Alomari M...Schneider A
|
32489735 |
2020 |
178 |
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.
61
|
Schirwani S...Jewell R
|
31655143 |
2020 |
179 |
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
61
|
Kumps C...Superti-Furga A
|
32295219 |
2020 |
180 |
Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences.
61
|
Louie A...Singman EL
|
31989797 |
2020 |
181 |
Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.
61
|
Angwin C...van Dijk FS
|
31141158 |
2020 |
182 |
Diagnosis of Ehlers-Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms.
61
|
Hausser I
|
31432500 |
2020 |
183 |
Subacromial space outlet in female patients with multidirectional instability based on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder measured by ultrasound.
61
|
Kjar BH...Cools AM
|
31629650 |
2020 |
184 |
Clinical variability in children with dolichoarteriopathies of the internal carotid artery.
61
|
Foiadelli T...Savasta S
|
31701280 |
2020 |
185 |
Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review.
61
|
Palmer S...Young G
|
31955324 |
2020 |
186 |
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review.
61
|
McGillis L...Clarke H
|
31840928 |
2020 |
187 |
Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome.
61
|
Miller AJ...Arnold AC
|
31954224 |
2020 |
188 |
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).
61
|
Chen S...Lee B
|
32161841 |
2020 |
189 |
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
61
|
Morlino S...Castori M
|
31794058 |
2020 |
190 |
Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome.
61
|
Fernandez-Flores A...Barja-Lopez JM
|
32170975 |
2020 |
191 |
Ruptured ulnar artery aneurysm in vascular Ehlers-Danlos syndrome.
61
|
Howard R...Osborne N
|
32072093 |
2020 |
192 |
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.
61
|
Callaghan MB...Turnpenny PD
|
31833208 |
2020 |
193 |
Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control.
61
|
Leone CM...Truini A
|
32176287 |
2020 |
194 |
RD repair using 360-degree scleral graft for extensive scleral ectasia in a patient with Ehlers Danlos syndrome.
61
|
Whitlow S...Idrees Z
|
32083221 |
2020 |
195 |
Inherited cause of in utero digital malformations.
61
|
Gooch C...Robin N
|
32209574 |
2020 |
196 |
Family history of associated disorders in patients with postural tachycardia syndrome.
61
|
Boris JR...Bernadzikowski T
|
32008600 |
2020 |
197 |
Custom-Made Foot Orthoses Reduce Pain and Fatigue in Patients with Ehlers-Danlos Syndrome. A Pilot Study.
61
|
Reina-Bueno M...Munuera-Martinez PV
|
32093191 |
2020 |
198 |
Management of colonic complications of type IV Ehlers-Danlos syndrome: a systematic review and evidence-based management strategy.
61
|
Speake D...Carlson GL
|
31260161 |
2020 |
199 |
Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome.
61
|
Dubacher N...Matyas G
|
31056650 |
2020 |
200 |
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.
61
|
Ritelli M...Colombi M
|
31600821 |
2020 |
201 |
Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome.
61
|
Lam CY...Aziz I
|
32109633 |
2020 |
202 |
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
61
|
Duong J...Vandersteen A
|
31323331 |
2020 |
203 |
Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.
61
|
Adham S...Legrand A
|
31531849 |
2020 |
204 |
Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model.
61
|
Sage L...Vascular Ehlers-Danlos Syndrome Research Collaborative
|
32115322 |
2020 |
205 |
Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome.
61
|
Bowen CJ...Dietz HC
|
31639107 |
2020 |
206 |
Ehlers-Danlos syndrome presenting with primary nocturnal enuresis.
61
|
Cunha M...Marques I
|
32024714 |
2020 |
207 |
Podiatry alterations in Ehlers-Danlos syndrome.
61
|
Palomo-Toucedo IC...Reina-Bueno M
|
31255365 |
2020 |
208 |
Isolated Renal Artery Dissection: A Systematic Review of Case Reports.
61
|
Jha A...Garcia L
|
32076589 |
2020 |
209 |
Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series.
61
|
Van Camp N...Politis C
|
31859106 |
2020 |
210 |
Prenatal care and labor in patients with mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia).
61
|
Makatsariya A...Makatsariya N
|
29938556 |
2020 |
211 |
The use of selective laser melting in the fabrication of maxillary and mandibular metal base complete dentures for a patient with Ehlers-Danlos syndrome: A clinical report.
61
|
Azpiazu-Flores FX...Zheng F
|
31955833 |
2020 |
212 |
Communication of genetic information to at-risk relatives during the multidisciplinary monitoring of vascular Ehlers-Danlos syndrome in a French referral clinic.
61
|
Mazzella JM...Jeunemaitre X
|
31903687 |
2020 |
213 |
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
61
|
Ishikawa Y...Bachinger HP
|
31949249 |
2020 |
214 |
The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review.
61
|
Aghamir SMK...Khatami F
|
31938779 |
2020 |
215 |
Investigating uncommon vascular diseases using the Vascular Low Frequency Disease Consortium.
61
|
Lawrence PF...Woo K
|
31964572 |
2020 |
216 |
Effect of shading and grafting on yield and quality of tomato.
61
|
Milenkovic L...Ilic ZS
|
31591726 |
2020 |
217 |
Local anaesthetic resistance in a patient with Ehlers-Danlos syndrome undergoing caesarean section with continuous spinal anaesthesia.
61
|
Wloch K...Gowrie-Mohan S
|
32537613 |
2020 |
218 |
Complications in Children with Ehlers-Danlos Syndrome Following Spine Surgery: Analysis of the Pediatric National Surgery Quality Improvement Program Database.
61
|
Matur AV...Cheng JS
|
31526884 |
2020 |
219 |
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.
61
|
Oakley-Hannibal E...Brady AF
|
31609726 |
2020 |
220 |
Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome.
61
|
Shalhub S...Vascular Ehlers-Danlos Syndrome Collaborative
|
31449940 |
2020 |
221 |
Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings.
61
|
Herrero-Moyano M...Hernandez-Martin A
|
32169283 |
2020 |
222 |
The Many Facets of Hypermobile Ehlers-Danlos Syndrome.
61
|
Riley B
|
31904772 |
2020 |
223 |
Case - Penile fracture in a patient with Ehlers-Danlos syndrome.
61
|
Biebel M...Munarriz R
|
31670645 |
2020 |
224 |
An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.
61
|
Micha D...Ghazanfari S
|
31668813 |
2020 |
225 |
Obesity surgery and Ehlers-Danlos syndrome: challenges and considerations based on a case report.
61
|
Gerogiannis IN...Sgromo B
|
31530171 |
2020 |
226 |
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
61
|
Delbaere S...Malfait F
|
31273343 |
2020 |
227 |
Low function of natural killer cells in treated classic Menkes disease.
61
|
Bhat JN...Maertens P
|
32558428 |
2020 |
228 |
Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of health burden perspectives.
61
|
Johansen H...Lidal I
|
31692252 |
2020 |
229 |
Effects of Rhythmic Sensory Stimulation on Ehlers-Danlos Syndrome: A Pilot Study.
61
|
Vuong V...Bartel L
|
32399126 |
2020 |
230 |
Structured Rehabilitation Program for Multidirectional Shoulder Instability in a Patient with Ehlers-Danlos Syndrome.
61
|
Kitagawa T...Nakaizumi D
|
32089933 |
2020 |
231 |
High Prevalence of Connective Tissue Gene Variants in Professional Ballet.
61
|
Vera AM...Harris JD
|
31765226 |
2020 |
232 |
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
61
|
Shalhub S...Woo K
|
31353273 |
2020 |
233 |
Arterial Stiffening with Ultrafast Ultrasound Imaging Gives New Insight into Arterial Phenotype of Vascular Ehlers-Danlos Mouse Models.
61
|
Goudot G...Mirault T
|
30241104 |
2019 |
234 |
Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not rule.
61
|
Shur N...McIntosh B
|
31515912 |
2019 |
235 |
Bent Out of Shape: A Case of Abdominal Pain.
61
|
Chaganti P...Chao JH
|
30346365 |
2019 |
236 |
Stabilization of Recurrent Elbow Instability in a Patient with Ehlers-Danlos Syndrome: A Case Report.
61
|
Schneider AM...Salazar DH
|
31850912 |
2019 |
237 |
Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation.
61
|
Sakai K...Uematsu K
|
31391389 |
2019 |
238 |
Sudden death in acrogeria Gottron type.
61
|
Maiese A...Fineschi V
|
31673870 |
2019 |
239 |
Detection of target collagen peptides with single amino acid mutation using two fluorescent peptide probes.
61
|
Sun X...Xiao J
|
31566640 |
2019 |
240 |
Extradural Compressive Spinal Cerebrospinal Fluid Leak in Ehlers-Danlos Syndrome.
61
|
Pradini-Santos L...Sayal PP
|
31479794 |
2019 |
241 |
Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives.
61
|
Velvin G...Lidal I
|
31847606 |
2019 |
242 |
Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison.
61
|
Demmler JC...Brophy ST
|
31685485 |
2019 |
243 |
Vascular Ehlers-Danlos Syndrome Diagnosed in a Patient Initiating Hemodialysis.
61
|
Ouchi H...Nangaku M
|
31891008 |
2019 |
244 |
A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome.
61
|
Olson SL...Skeik N
|
31394236 |
2019 |
245 |
Subglottic tracheal stenosis associated with Ehlers-Danlos Syndrome, Hypermobilty Type.
61
|
Guiraudet P...Martinod E
|
31476586 |
2019 |
246 |
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.
61
|
Barbitoff YA...Predeus AV
|
31482689 |
2019 |
247 |
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.
61
|
Li J...Puel A
|
31784499 |
2019 |
248 |
Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome.
61
|
Dang MT...Arrey-Mensah A
|
31780602 |
2019 |
249 |
Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study.
61
|
Aghajanyan A...Konjevoda P
|
30342098 |
2019 |
250 |
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
61
|
Micale L...Castori M
|
31775249 |
2019 |
251 |
Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations.
61
|
Konieczynska M...Undas A
|
31575845 |
2019 |
252 |
Penile fracture in a patient with Ehlers-Danlos syndrome: A case report.
61
|
Liu JL...Burnett AL
|
31641596 |
2019 |
253 |
Symptomatic Joint Hypermobility: The Hypermobile Type of Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders.
61
|
Tinkle BT...Levy HP
|
31582002 |
2019 |
254 |
Oro-dental characteristics in patients with hypermobile Ehlers-Danlos Syndrome compared to a healthy control group.
61
|
Honore MB...Sonnesen L
|
31206735 |
2019 |
255 |
Hemothorax in vascular Ehlers-Danlos syndrome.
61
|
Alvarez K...Jose Angel H
|
29050841 |
2019 |
256 |
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
61
|
Shalhub S...Woo K
|
31126764 |
2019 |
257 |
Atypical Symptomatic Bilateral Spontaneous Cavernous Carotid Aneurysm with Systemic Vessel Wall Pathology in Young Female: A Rare Case Report.
61
|
Miyatani K...Kato Y
|
31903372 |
2019 |
258 |
Anterior Capsule Reconstruction of the Native Hip: A Technique Guide.
61
|
Kurz AZ...Ayeni OR
|
32042580 |
2019 |
259 |
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
61
|
Caraffi SG...Garavelli L
|
31614862 |
2019 |
260 |
Multiple Arterial Dissections in a Patient With Vascular Ehlers-Danlos Syndrome Caused by a Frameshift Mutation in COL3A1.
61
|
Yagyu T...Yasuda S
|
31080229 |
2019 |
261 |
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.
61
|
Copetti M...Castori M
|
30783660 |
2019 |
262 |
Ehlers-Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control study.
61
|
Tuna F...Doganlar O
|
31594391 |
2019 |
263 |
Case Report: Drug-induced Leukocytoclastic Vasculitis in a Patient with Classic Ehlers-Danlos Syndrome.
61
|
Bourji K...Dogra B
|
31788374 |
2019 |
264 |
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.
61
|
Rymen D...Colombi M
|
31731524 |
2019 |
265 |
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.
61
|
Hakim AJ
|
31329982 |
2019 |
266 |
Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome.
61
|
Bauer A...Leeb T
|
31365140 |
2019 |
267 |
Median Arcuate Ligament Syndrome and Its Associated Conditions.
61
|
Huynh DTK...Shouhed D
|
31657316 |
2019 |
268 |
A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.
61
|
Jaffey JA...Johnson GS
|
31294848 |
2019 |
269 |
Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.
61
|
Kolli V...Merke DP
|
31666125 |
2019 |
270 |
Power-Injection Injury in a Patient with Ehlers-Danlos Syndrome.
61
|
Davis JR...Tomihama RT
|
31279686 |
2019 |
271 |
[Therapy of Peripheral Artery Aneurysms].
61
|
Jung G...Schmitz-Rixen T
|
31634974 |
2019 |
272 |
Nonatherosclerotic Abdominal Vasculopathies.
61
|
Skeik N...Sullivan T
|
31200053 |
2019 |
273 |
Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study.
61
|
Nee J...Wolf J
|
30672816 |
2019 |
274 |
Carotid Artery Tortuosity Is Associated with Connective Tissue Diseases.
61
|
Welby JP...Brinjikji W
|
31558499 |
2019 |
275 |
Restoring extracellular matrix synthesis in senescent stem cells.
61
|
Rong N...Andreadis ST
|
31287964 |
2019 |
276 |
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
61
|
Ghali N...van Dijk FS
|
30837697 |
2019 |
277 |
Ehlers-Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing.
61
|
VanderJagt K...Butler MG
|
31250196 |
2019 |
278 |
A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report.
61
|
Xu X...Zan T
|
31517854 |
2019 |
279 |
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.
61
|
Angwin C...van Dijk FS
|
31569816 |
2019 |
280 |
The skin rejuvenation associated treatment-Fraxel laser, Microbotox, and low G prime hyaluronic acid: preliminary results.
61
|
Bertossi D...Nocini PF
|
30762198 |
2019 |
281 |
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
61
|
Lao Q...Merke DP
|
31229653 |
2019 |
282 |
Confirmation That Angioid Streaks Are Not Common in Ehlers-Danlos Syndrome.
61
|
Mahroo OA...Hykin PG
|
31556922 |
2019 |
283 |
[Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients].
61
|
Perez-Roustit S...Bremond-Gignac D
|
31133401 |
2019 |
284 |
Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome.
61
|
Bauer A...Bateman FL
|
31546637 |
2019 |
285 |
Molecular underpinnings of integrin binding to collagen-mimetic peptides containing vascular Ehlers-Danlos syndrome-associated substitutions.
61
|
Hoop CL...Baum J
|
31406019 |
2019 |
286 |
Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population.
61
|
Schubart JR...Bascom R
|
31153935 |
2019 |
287 |
Neuromuscular activation differences during gait in patients with Ehlers-Danlos syndrome and healthy adults.
61
|
Robbins SM...Hazel EM
|
31498548 |
2019 |
288 |
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
61
|
Ewans LJ...Roscioli T
|
31129566 |
2019 |
289 |
A three-dimensional analysis of scoliosis progression in non-idiopathic scoliosis: is it similar to adolescent idiopathic scoliosis?
61
|
Bachmann KR...Harms Study Group Investigators
|
31183529 |
2019 |
290 |
The Chalice Sign : Characteristic Morphology of the Cervical Carotid Bifurcation in Patients with Loeys-Dietz Syndrome.
61
|
Benson JC...Brinjikji W
|
31552453 |
2019 |
291 |
Recognizing and Effectively Managing Hypermobility-Related Conditions.
61
|
Russek LN...Simmonds J
|
31158283 |
2019 |
292 |
Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
61
|
Saetre E...Eik H
|
31347287 |
2019 |
293 |
Utilization of echocardiography in Ehlers-Danlos syndrome.
61
|
Rauser-Foltz KK...Yetman AT
|
31328377 |
2019 |
294 |
Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome.
61
|
Tran ST...Tinkle BT
|
31370685 |
2019 |
295 |
Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome.
61
|
Sceats LA...Kin C
|
30656563 |
2019 |
296 |
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
61
|
Ritelli M...Colombi M
|
31438591 |
2019 |
297 |
Leukocytoclastic vasculitis with Koebner phenomenon associated with Ehlers Danlos syndrome.
61
|
Haddock EES...Marsch AF
|
31388534 |
2019 |
298 |
Genetic basis of hereditary thoracic aortic aneurysms and dissections.
61
|
Takeda N...Komuro I
|
31000321 |
2019 |
299 |
Safety of Endoscopy in Heritable Connective Tissue Disorders.
61
|
Kilaru SM...Wolf JL
|
31185005 |
2019 |
300 |
Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome".
61
|
De Baets S...Van de Velde D
|
31287330 |
2019 |
301 |
An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome.
61
|
Martin A
|
31102747 |
2019 |
302 |
Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series.
61
|
Gami A...Singman EL
|
31345188 |
2019 |
303 |
Bilateral Medial and Lateral Patellofemoral Ligament Reconstruction in a Patient with Hypermobility Type Ehlers-Danlos Syndrome: A Case Report.
61
|
Shubert DJ...McDonough EB
|
31390333 |
2019 |
304 |
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome.
61
|
Lim PJ...Giunta C
|
31288483 |
2019 |
305 |
An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population.
61
|
Jesudas R...Laukaitis CM
|
31329366 |
2019 |
306 |
Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.
61
|
Kuivaniemi H...Tromp G
|
31075413 |
2019 |
307 |
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
61
|
Sandler-Wilson C...Shinawi M
|
30914273 |
2019 |
308 |
[Syndromes with skin fragility].
61
|
Reimer A...Has C
|
31197392 |
2019 |
309 |
Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1.
61
|
Lin Z...Wang X
|
31239369 |
2019 |
310 |
Genomic analysis of claw lesions in Holstein cows: Opportunities for genomic selection, quantitative trait locus detection, and gene identification.
61
|
Croue I...Ducrocq V
|
31056323 |
2019 |
311 |
Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome.
61
|
Park KY...Kohler JE
|
31324749 |
2019 |
312 |
Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria.
61
|
Benistan K...Martinez V
|
31075184 |
2019 |
313 |
Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review.
61
|
Adham S...Frank M
|
31188187 |
2019 |
314 |
Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective study.
61
|
Wasim S...So J
|
30923956 |
2019 |
315 |
Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study.
61
|
Bennett SE...Palmer S
|
31318301 |
2019 |
316 |
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
61
|
Legrand A...Jeunemaitre X
|
30474650 |
2019 |
317 |
You're the Flight Surgeon.
61
|
|
31101147 |
2019 |
318 |
Re: Hevesi M, Chaudhry AR, Wagner ER, Moran SL. Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences. J Hand Surg Eur. 2019, 44: 587-94.
61
|
Taylor L...Southern S
|
30913950 |
2019 |
319 |
Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father.
61
|
Sen P...Butler MG
|
31061749 |
2019 |
320 |
Re: re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome.
61
|
Campbell SJ...Heliotis M
|
30967294 |
2019 |
321 |
Prolapse and regurgitation of the four heart valves in a patient with Ehlers-Danlos Syndrome: a case report.
61
|
Chango Azanza DX...Spernanzoni F
|
31449614 |
2019 |
322 |
Re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome.
61
|
Sembronio S...Robiony M
|
30992226 |
2019 |
323 |
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
61
|
Syx D...Malfait F
|
30668708 |
2019 |
324 |
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.
61
|
Ruiz-Botero F...Pachajoa H
|
31063316 |
2019 |
325 |
Pseudo-obstruction, enteric dysmotility and irritable bowel syndrome.
61
|
Lindberg G
|
31594655 |
2019 |
326 |
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
61
|
Pinna R...Cagetti MG
|
31090139 |
2019 |
327 |
A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.
61
|
Budsamongkol T...Shotelersuk V
|
31193991 |
2019 |
328 |
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.
61
|
Gay EA...Hisama FM
|
30327540 |
2019 |
329 |
The Genetics of Pneumothorax.
61
|
Boone PM...Raby BA
|
30681372 |
2019 |
330 |
Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses.
61
|
Velvin G...Geirdal AO
|
30788842 |
2019 |
331 |
Clinical Case of Acute Non-Traumatic Hand Compartment Syndrome and Systematic Review for the Upper Extremity.
61
|
Ogrodnik J...Forte AJ
|
31215795 |
2019 |
332 |
The erector spinae plane block in a high-risk Ehlers-Danlos syndrome pediatric patient for vascular ring repair.
61
|
Wyatt K...Elattary T
|
30391449 |
2019 |
333 |
Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome.
61
|
Rahman Q...Stone WM
|
30630391 |
2019 |
334 |
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
61
|
Cortini F...Bassotti A
|
30826961 |
2019 |
335 |
Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review.
61
|
Frank M...Jeunemaitre X
|
30357907 |
2019 |
336 |
Multidirectional Shoulder Instability With Bone Loss and Prior Failed Latarjet Procedure: Treatment With Fresh Distal Tibial Allograft and Modified T-Plasty Open Capsular Shift.
61
|
Peebles LA...Provencher MT
|
31194075 |
2019 |
337 |
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.
61
|
Guarnieri V...Castori M
|
30821104 |
2019 |
338 |
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.
61
|
Lu Y...Han J
|
31218159 |
2019 |
339 |
TNX deficiency results in bone loss due to an increase in multinucleated osteoclasts.
61
|
Kajitani N...Matsumoto KI
|
30922562 |
2019 |
340 |
Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.
61
|
Rolfes MC...Derauf C
|
30856599 |
2019 |
341 |
Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome.
61
|
Kalisch L...Baeza-Velasco C
|
31060411 |
2019 |
342 |
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.
61
|
Shalhub S...Milewicz DM
|
30793832 |
2019 |
343 |
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
61
|
Giunta C...Baumann M
|
31132235 |
2019 |
344 |
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review.
61
|
Baeza-Velasco C...Jaussaud R
|
29357706 |
2019 |
345 |
A Dual Approach for the Management of Complex Craniovertebral Junction Abnormalities: Endoscopic Endonasal Odontoidectomy and Posterior Decompression with Fusion.
61
|
Alalade AF...Greenfield JP
|
31218285 |
2019 |
346 |
Morphometric analysis of thoracic aorta in Slc39a13/Zip13-KO mice.
61
|
Hirose T...Takehana K
|
30610452 |
2019 |
347 |
[Up-to-date classification and multidisciplinary symptoms of Ehlers-Danlos syndromes].
61
|
Ralovich FV...Medvecz M
|
30983397 |
2019 |
348 |
Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate.
61
|
Savasta S...Marseglia GL
|
30961343 |
2019 |
349 |
Hypermobile type Ehlers-Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case-based review on new classification, diagnosis, and multidisciplinary management.
61
|
Zhang W...Taunton DO
|
30997063 |
2019 |
3 |