Detalhe da pesquisa
1.
A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.
Eur J Epidemiol
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38671254
2.
Amniotic band syndrome and limb body wall complex in Europe 1980-2019.
Am J Med Genet A
; 191(4): 995-1006, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36584346
3.
Epidemiology of aplasia cutis congenita: A population-based study in Europe.
J Eur Acad Dermatol Venereol
; 37(3): 581-589, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36300660
4.
Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.
Paediatr Perinat Epidemiol
; 35(5): 530-539, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132407
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.
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
Pediatr Res
; 87(3): 541-549, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31499513
7.
Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.
Neuroepidemiology
; 53(3-4): 169-179, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302658
8.
Pregnancy outcomes of Q fever: prospective follow-up study on Reunion island.
BMC Infect Dis
; 19(1): 1001, 2019 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31775645
9.
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Am J Hum Genet
; 97(4): 616-20, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365340
10.
Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors.
Paediatr Perinat Epidemiol
; 31(6): 549-559, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28841756
11.
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
J Am Soc Nephrol
; 27(3): 722-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26139440
12.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25790162
13.
Use of hierarchical models to analyze European trends in congenital anomaly prevalence.
Birth Defects Res A Clin Mol Teratol
; 106(6): 480-8, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27301561
14.
Epidemiology of hypospadias in Europe: a registry-based study.
World J Urol
; 33(12): 2159-67, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712311
15.
Spectrum of the mutations in Bernard-Soulier syndrome.
Hum Mutat
; 35(9): 1033-45, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24934643
16.
Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.
Am J Med Genet A
; 164A(12): 2979-86, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25257471
17.
Hirschsprung's disease prevalence in Europe: a register based study.
Birth Defects Res A Clin Mol Teratol
; 100(9): 695-702, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066220
18.
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
19.
Recent decrease in the prevalence of congenital heart defects in Europe.
J Pediatr
; 162(1): 108-13.e2, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22835879
20.
[Oncogenetics in the French overseas departments and regions: Situation in Reunion Island]. / Oncogénétique dans les départements et régions d'Outre-mer français : situation à La Réunion.
Bull Cancer
; 110(6): 685-691, 2023 Jun.
Artigo
em Francês
| MEDLINE | ID: mdl-37183057