Detalhe da pesquisa
1.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
2.
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Genet Med
; 24(2): 439-453, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906501
3.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet
; 97(3): 396-406, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794058
4.
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Am J Med Genet A
; 182(5): 994-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32091183
5.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
J Med Genet
; 56(9): 629-638, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31129566
6.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am J Hum Genet
; 99(5): 1005-1014, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745832
7.
Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome.
Respiration
; 97(4): 284-291, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30485858
8.
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.
Genet Med
; 20(1): 42-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617417
9.
The Ehlers-Danlos syndromes, rare types.
Am J Med Genet C Semin Med Genet
; 175(1): 70-115, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306225
10.
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 8-26, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306229
11.
Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.
Thorax
; 72(8): 729-735, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28073822
12.
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.
J Biol Chem
; 290(29): 17679-17689, 2015 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004778
13.
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
Genet Med
; 18(9): 882-91, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26765342
14.
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Am J Med Genet A
; 170A(1): 103-15, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26373698
15.
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Hum Mutat
; 36(6): 611-21, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736335
16.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Am J Hum Genet
; 90(2): 201-16, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265013
17.
Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.
Eur J Pediatr
; 174(1): 105-12, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25277362
18.
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.
Proc Natl Acad Sci U S A
; 109(51): E3530-8, 2012 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23213233
19.
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Am J Hum Genet
; 88(3): 362-71, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21353196
20.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Am J Hum Genet
; 88(6): 767-777, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21664999