Detalhe da pesquisa
1.
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
J Med Genet
; 61(2): 109-116, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734846
2.
First Case of Acute Myocarditis Caused by Metapneumovirus in an Immunocompromised 14-year-old Girl.
Indian J Crit Care Med
; 26(6): 745-747, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35836619
3.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415748
4.
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Hum Genet
; 139(4): 461-472, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980905
5.
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Clin Genet
; 98(2): 166-171, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32361989
6.
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Am J Med Genet C Semin Med Genet
; 181(4): 509-518, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31643139
7.
Epidemiology of achondroplasia: A population-based study in Europe.
Am J Med Genet A
; 179(9): 1791-1798, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294928
8.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet
; 12(3): e1005894, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26967905
9.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(6): 790-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637653
10.
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Hum Mol Genet
; 24(14): 4126-37, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908617
11.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Hum Mutat
; 36(9): 894-902, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077438
12.
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Hum Mutat
; 35(4): 478-85, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24470203
13.
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.
Am J Med Genet A
; 164A(3): 648-54, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357154
14.
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Eur J Med Genet
; 69: 104940, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38705458
15.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284452
16.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Hum Mutat
; 39(12): 2110-2112, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447178
17.
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease.
Am J Med Genet A
; 161A(3): 417-29, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23404932
18.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
J Med Genet
; 49(12): 737-46, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188108
19.
Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.
Children (Basel)
; 10(4)2023 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37189943
20.
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Hum Mutat
; 33(2): 316-26, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22095942