1 |
Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.
61
54
|
Rock MJ...Cohn DH
|
20033473 |
2010 |
2 |
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
54
61
|
Schwarzer W...Stricker S
|
19640924 |
2009 |
3 |
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
61
54
|
Ben-Shachar S...Lupski JR
|
19236432 |
2009 |
4 |
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src.
61
54
|
Akbarzadeh S...Heath JK
|
18365018 |
2008 |
5 |
Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'.
54
61
|
Suzuki T...Honda Z
|
17602228 |
2007 |
6 |
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
54
61
|
Nowakowska B...Cai WW
|
17632781 |
2007 |
7 |
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
61
54
|
Zhao X...Zhang X
|
17236141 |
2007 |
8 |
GDF5 is a second locus for multiple-synostosis syndrome.
61
54
|
Dawson K...Krakow D
|
16532400 |
2006 |
9 |
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.
54
61
|
Tufan F...Horn D
|
15952209 |
2005 |
10 |
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
61
54
|
Orrico A...Sorrentino V
|
15809997 |
2005 |
11 |
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
61
54
|
Zankl A...Superti-Furga A
|
15643621 |
2005 |
12 |
The pathophysiology of HOX genes and their role in cancer.
54
61
|
Grier DG...Lappin TR
|
15643670 |
2005 |
13 |
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.
61
54
|
de Sanctis L...de Sanctis C
|
15070926 |
2004 |
14 |
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
54
61
|
Germain-Lee EL...Levine MA
|
12970262 |
2003 |
15 |
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.
54
61
|
Bacchelli C...Goodman FR
|
12919145 |
2003 |
16 |
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
61
54
|
Freson K...Van Geet C
|
12719376 |
2003 |
17 |
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
54
61
|
Caronia G...Zappavigna V
|
12620993 |
2003 |
18 |
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
61
54
|
Olivieri C...Danesino C
|
12548386 |
2003 |
19 |
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
61
54
|
Richards AJ...Hughes H
|
12205109 |
2002 |
20 |
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.
61
54
|
Albrecht AN...Mundlos S
|
11850178 |
2002 |
21 |
A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene.
61
54
|
Sakai N...Takato T
|
11886988 |
2002 |
22 |
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
61
54
|
Ludecke HJ...Horsthemke B
|
11112658 |
2001 |
23 |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
61
54
|
Roscioli T...Glass IA
|
10861678 |
2000 |
24 |
Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin II-receptor gene and the renin loci in man.
61
54
|
Nagy Z...Luft FC
|
10446938 |
1999 |
25 |
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
54
61
|
Nakamoto JM...Van Dop C
|
9600732 |
1998 |
26 |
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
61
54
|
Graham JM...Jabs EW
|
9600744 |
1998 |
27 |
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.
61
54
|
Reginato AJ...Williams CJ
|
8024616 |
1994 |
28 |
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
61
54
|
Patten JL...Levine MA
|
2109828 |
1990 |
29 |
Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.
61
|
Kantaputra PN...Tan WH
|
32442662 |
2020 |
30 |
Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe.
61
|
Chen W...Tian X
|
32568755 |
2020 |
31 |
Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome).
61
|
Akyol Onder EN...Ozunan I
|
32341815 |
2020 |
32 |
Phosphodiesterase 3A and Arterial Hypertension.
61
|
Ercu M...Klussmann E
|
32524868 |
2020 |
33 |
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
61
|
Karoulias SZ...Hubmacher D
|
31726086 |
2020 |
34 |
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
61
|
Yates TM...Balasubramanian M
|
32097528 |
2020 |
35 |
Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.
61
|
Tang Y...Li H
|
32481259 |
2020 |
36 |
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
61
|
Shao J...Wu N
|
32460719 |
2020 |
37 |
PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.
61
|
Lee CG...Park JM
|
31589936 |
2020 |
38 |
Clinical and molecular description of 16 families with heterozygous IHH variants.
61
|
Sentchordi-Montane L...Heath KE
|
32311039 |
2020 |
39 |
A novel variant of IHH in a Chinese family with brachydactyly type 1.
61
|
Yang Q...Shen Y
|
32209048 |
2020 |
40 |
[Clinical practice guidelines for brachydactyly type A1].
61
|
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association...He L
|
32128750 |
2020 |
41 |
Skeletal ciliopathies: a pattern recognition approach.
61
|
Handa A...Nishimura G
|
31965514 |
2020 |
42 |
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.
61
|
Mishra R...Dua Puri R
|
32256301 |
2020 |
43 |
Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.
61
|
Fan P...Zhou XL
|
31549136 |
2020 |
44 |
Forefoot malformations, deformities and other congenital defects in children.
61
|
Rampal V...Giuliano F
|
31648997 |
2020 |
45 |
Brachydactyly-anonychia with congenital absent phalanges of the hand.
61
|
Sharma R...Sharma RK
|
32068944 |
2020 |
46 |
Chronic Metacarpophalangeal Joint Instability in a Patient with Bardet-Biedl Syndrome and Brachydactyly.
61
|
Carvalho MF...Farr S
|
32135553 |
2020 |
47 |
A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype.
61
|
Al-Qattan MM
|
32509852 |
2020 |
48 |
Comprehensive prosthetic rehabilitation of a case of the orofacial digital syndrome.
61
|
Lanzara R...Gopi A
|
32089607 |
2020 |
49 |
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.
61
|
Gursoy S...Ates H
|
32021609 |
2020 |
50 |
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
61
|
Meerschaut I...Callewaert B
|
31595668 |
2019 |