| 1 |
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
62
24
|
Giunta C...Rohrbach M
|
28617417 |
2018 |
| 2 |
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
62
24
|
Giunta C...Steinmann B
|
18513683 |
2008 |
| 3 |
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.
62
24
|
Walker LC...Yeowell HN
|
15854030 |
2005 |
| 4 |
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.
62
24
|
Walker LC...Yeowell HN
|
15523625 |
2004 |
| 5 |
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.
62
24
|
Al-Hussain H...Steinmann B
|
14679583 |
2004 |
| 6 |
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
62
24
|
Yeowell HN...Walker LC
|
11001813 |
2000 |
| 7 |
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management.
62
24
|
Heim P...Steinmann B
|
9686670 |
1998 |
| 8 |
A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
62
24
|
Pousi B...Myllyla R
|
9450904 |
1998 |
| 9 |
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.
62
24
|
Steinmann B...Shao P
|
8533783 |
1995 |
| 10 |
Variation among DNA banking consent forms: points for clinicians to bank on.
24
|
Huang SJ...Sternen DL
|
35834113 |
2022 |
| 11 |
The Ehlers-Danlos syndromes, rare types.
24
|
Brady AF...Malfait F
|
28306225 |
2017 |
| 12 |
The 2017 international classification of the Ehlers-Danlos syndromes.
24
|
Malfait F...Tinkle B
|
28306229 |
2017 |
| 13 |
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
24
|
Janecke AR...Steinmann B
|
26373698 |
2016 |
| 14 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
24
|
Richards S...ACMG Laboratory Quality Assurance Committee
|
25741868 |
2015 |
| 15 |
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
24
|
Baumann M...Fauth C
|
22265013 |
2012 |
| 16 |
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.
24
|
Rohrbach M...Giunta C
|
21699693 |
2011 |
| 17 |
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
24
|
Malfait F...De Paepe A
|
20842734 |
2010 |
| 18 |
A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome.
24
|
Esaka EJ...Thomas RL
|
19155940 |
2009 |
| 19 |
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases.
24
|
Kraenzlin ME...Steinmann B
|
18653826 |
2008 |
| 20 |
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
24
|
Giunta C...Steinmann B
|
15979919 |
2005 |
| 21 |
An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.
24
|
Yeowell HN...Neumann LM
|
16172044 |
2005 |
| 22 |
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
24
|
Giunta C...Steinmann B
|
15666309 |
2005 |
| 23 |
The surgical complications of Ehlers-Danlos syndrome.
24
|
Freeman RK...Sise MJ
|
8813174 |
1996 |
| 24 |
Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.
24
|
Pousi B...Myllyla R
|
7977351 |
1994 |
| 25 |
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.
24
|
Pinnell SR...Glimcher MJ
|
5016372 |
1972 |
| 26 |
Possible role of Lipoptena fortisetosa (Diptera: Hippoboscidae) as a potential vector for Theileria spp. in captive Eld's deer in Khao Kheow open zoo, Thailand.
62
|
Tiawsirisup S...Saedan A
|
36341781 |
2023 |
| 27 |
A brief review on deer keds of the genus Lipoptena (Diptera: Hippoboscidae).
62
|
Dibo N...Meng F
|
36473321 |
2022 |
| 28 |
Finding a suitable coat: The ecology of the invasive deer ked (Lipoptena cervi (Linnaeus, 1758); Diptera: Hippoboscidae), an ectoparasite of large mammals in the Czech Republic.
62
|
Bjelkova K...Horak J
|
35751583 |
2022 |
| 29 |
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI.
62
|
Patel MM...Berrocal AM
|
36440736 |
2022 |
| 30 |
Mapping the global distribution of spotted fever group rickettsiae: a systematic review with modelling analysis.
62
|
Zhang YY...Liu W
|
36424337 |
2022 |
| 31 |
Limited detection of shared zoonotic pathogens in deer keds and blacklegged ticks co-parasitizing white-tailed deer in the eastern United States.
62
|
Olafson PU...Machtinger ET
|
36286196 |
2022 |
| 32 |
The first detection of relapsing fever spirochete Borrelia miyamotoi in Ixodes ricinus ticks from the northeast Czech Republic.
62
|
Bubanova D...Majlathova V
|
36126494 |
2022 |
| 33 |
The New Haplotypes of Bartonella spp. and Borrelia burgdorferi Sensu Lato Identified in Lipoptena spp. (Diptera: Hippoboscidae) Collected in the Areas of North-Eastern Poland.
62
|
Werszko J...Asman M
|
36297168 |
2022 |
| 34 |
Velocity correlated emission of secondary clusters by a single surface impact of a polyatomic ion: a new mechanism of cluster emission and subpicosecond probing of extreme spike conditions.
62
|
Armon E...Kolodney E
|
35959708 |
2022 |
| 35 |
Reversible Splenial Lesion Syndrome as a Challenging Casuistry.
62
|
Tatar D...Badura Brzoza K
|
36011475 |
2022 |
| 36 |
Symptom patterns in patients newly sick listed for common mental disorders and associations with work-related and socioeconomic factors: a cross-sectional study in Swedish primary care.
62
|
Svenningsson I...Petersson EL
|
35803640 |
2022 |
| 37 |
Molecular Survey of Vector-Borne Pathogens in Ticks, Sheep Keds, and Domestic Animals from Ngawa, Southwest China.
62
|
Lu M...Li K
|
35631127 |
2022 |
| 38 |
Development of two species of the Trypanosoma theileri complex in tabanids.
62
|
Kostygov AY...Agasoi VV
|
35313955 |
2022 |
| 39 |
Patterns of deer ked (Diptera: Hippoboscidae) and tick (Ixodida: Ixodidae) infestation on white-tailed deer (Odocoileus virginianus) in the eastern United States.
62
|
Poh KC...Machtinger ET
|
35057829 |
2022 |
| 40 |
Trypanosomes of the Trypanosoma theileri Group: Phylogeny and New Potential Vectors.
62
|
Brotankova A...Svobodova M
|
35208749 |
2022 |
| 41 |
Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers-Danlos Syndrome.
62
|
Yan X...Liu Y
|
35252061 |
2022 |
| 42 |
Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic Ehlers-Danlos syndrome.
62
|
Zhao Y...Ma L
|
34161861 |
2021 |
| 43 |
Distribution of Deer Keds (Diptera: Hippoboscidae) in Free-Living Cervids of the Tuscan-Emilian Apennines, Central Italy, and Establishment of the Allochthonous Ectoparasite Lipoptena fortisetosa.
62
|
Andreani A...Ponzetta MP
|
34679816 |
2021 |
| 44 |
Transmission of 'Candidatus Anaplasma camelii' to mice and rabbits by camel-specific keds, Hippobosca camelina.
62
|
Bargul JL...Masiga DK
|
34398891 |
2021 |
| 45 |
Energy partitioning and spin-orbit effects in the photodissociation of higher chloroalkanes.
62
|
Vinklarek IS...Farnik M
|
34169306 |
2021 |
| 46 |
Associations between antidepressant therapy, work ability, and sick leave for patients with common mental disorders within a two-year perspective - A longitudinal observational cohort study in Swedish primary care.
62
|
Hange D...Skoglund I
|
34113733 |
2021 |
| 47 |
Molecular Characterization of Lipoptenafortisetosa from Environmental Samples Collected in North-Eastern Poland.
62
|
Galecki R...Jaroszewski J
|
33921225 |
2021 |
| 48 |
Rickettsiae in red fox (Vulpes vulpes), marbled polecat (Vormela peregusna) and their ticks in northwestern China.
62
|
Liu G...Wang Y
|
33874985 |
2021 |
| 49 |
Molecular Detection of Selected Pathogens with Zoonotic Potential in Deer Keds (Lipoptena fortisetosa).
62
|
Galecki R...Xuan X
|
33801932 |
2021 |
| 50 |
Prevalence of exhaustion symptoms and associations with school level, length of work experience and gender: a nationwide cross-sectional study of Swedish principals.
62
|
Persson R...Osterberg K
|
33568106 |
2021 |
