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.
MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.
Genes Chromosomes Cancer
; 59(2): 111-118, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433521
3.
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Hum Mutat
; 41(9): 1499-1506, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32598510
4.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363182
5.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
6.
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
BMC Med Genet
; 20(1): 108, 2019 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31200655
7.
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Am J Med Genet A
; 173(11): 3114-3117, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940926
8.
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
Am J Med Genet A
; 173(6): 1690-1693, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28398607
9.
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
10.
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Genet Med
; 17(8): 651-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394172
11.
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
Am J Med Genet A
; 161A(7): 1797-802, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23713051
12.
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
Am J Med Genet A
; 161A(3): 572-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401077
13.
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.
Hum Mutat
; 33(1): 180-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21953887
14.
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Orphanet J Rare Dis
; 17(Suppl 1): 261, 2022 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821070
15.
Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis.
Endocr J
; 58(9): 769-76, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21720050
16.
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
JAMA
; 305(22): 2304-10, 2011 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21642682
17.
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
Orphanet J Rare Dis
; 16(1): 345, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348744
18.
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.
Eur J Med Genet
; 64(10): 104290, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274527
19.
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Hum Mutat
; 31(10): 1134-41, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20690116
20.
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Hum Mol Genet
; 17(14): 2172-80, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18411254