Detalhe da pesquisa
1.
Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome.
Am J Med Genet A
; : e63613, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38545882
2.
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Am J Med Genet A
; 194(6): e63556, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38348595
3.
Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami.
Am J Med Genet A
; 191(6): 1502-1507, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36866504
4.
A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.
Am J Med Genet A
; 188(6): 1885-1889, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243755
5.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
6.
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.
Am J Med Genet A
; 185(4): 1236-1241, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33427402
7.
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
Am J Med Genet A
; 185(2): 539-543, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33166063
8.
Application of the ACMG/NSGC genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017.
Am J Med Genet A
; 185(10): 3012-3018, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152076
9.
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome.
Am J Med Genet A
; 185(1): 208-212, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037780
10.
Missense (p.Glu778Lys) and (p.Gly908Arg) variants of NOD2 gene are associated with recurrent pulmonary non-tuberculous mycobacterial infections.
Scand J Immunol
; 92(3): e12935, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32654169
11.
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy.
Appl Clin Genet
; 15: 111-123, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35983253
12.
Radiologic screening and surveillance in hereditary cancers.
Eur J Radiol Open
; 9: 100422, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35874798
13.
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies.
Mol Syndromol
; 13(4): 282-289, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36158053
14.
Updates in Clinical and Genetics Aspects of Hypermobile Ehlers Danlos Syndrome
Balkan Med J
; 36(1): 12-16, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063214