Detalhe da pesquisa
1.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
2.
Risk factors associated with preterm birth in singletons born after IVF: a national cohort study.
Reprod Biomed Online
; 46(4): 750-759, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868885
3.
Fetal growth disorders following medically assisted reproduction: due to maternal context or techniques? A national French cohort study.
Reprod Biomed Online
; 46(4): 739-749, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36906455
4.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732226
5.
Obstetrical outcomes and maternal morbidities associated with COVID-19 in pregnant women in France: A national retrospective cohort study.
PLoS Med
; 18(11): e1003857, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34847147
6.
Do in vitro fertilization, intrauterine insemination or female infertility impact the risk of congenital anomalies in singletons? A longitudinal national French study.
Hum Reprod
; 36(3): 808-816, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33378527
7.
Endometriosis and assisted reproductive techniques independently related to mother-child morbidities: a French longitudinal national study.
Reprod Biomed Online
; 42(3): 627-633, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388264
8.
Assessment of chimerism and immunomodulation to prevent post-transplantation relapse in childhood acute myeloblastic leukemia: is it the right approach?
Pediatr Hematol Oncol
; 37(3): 259-268, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32028812
9.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet
; 99(6): 1368-1376, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889060
10.
Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.
Clin Genet
; 96(6): 579-584, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31432501
11.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
12.
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Genet Med
; 20(12): 1589-1599, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790873
13.
Mutation of SLC9A1, encoding the major Naâº/H⺠exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.
Hum Mol Genet
; 24(2): 463-70, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205112
14.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411445
15.
Follow-up of post-transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react.
Br J Haematol
; 169(2): 249-61, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25522886
16.
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.
J Hum Genet
; 60(5): 267-71, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716914
17.
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Am J Med Genet A
; 167(6): 1275-84, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900228
18.
Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.
Am J Med Genet A
; 164A(10): 2618-22, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975717
19.
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.
Am J Med Genet A
; 161A(10): 2594-9, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918747
20.
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Am J Med Genet A
; 161A(4): 671-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401279