Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet;
110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36724785
2.
Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT).
Int J Mol Sci;
23(18)2022 Sep 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36142745
3.
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Hum Genet;
140(10): 1459-1469, 2021 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34436670
4.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat;
41(12): 2167-2178, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33131162
5.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet;
101(5): 803-814, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29100091
6.
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Am J Med Genet A;
182(6): 1466-1472, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32212228
7.
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Hum Mutat;
39(8): 1076-1080, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29782060
8.
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
Am J Med Genet A;
176(12): 2740-2750, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30548201
9.
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Am J Hum Genet;
94(5): 677-94, 2014 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24768552
10.
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Hum Mol Genet;
22(16): 3306-14, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23615299
11.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Eur J Med Genet;
66(10): 104841, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37714374
12.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Eur J Hum Genet;
31(9): 1023-1031, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37344571
13.
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
EBioMedicine;
84: 104246, 2022 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36099812
14.
Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.
Acta Derm Venereol;
96(6): 848-9, 2016 08 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27026144
15.
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.
Eur J Med Genet;
62(9): 103539, 2019 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30240710
16.
Prenatal intestinal volvulus: look for cystic fibrosis.
BMJ Case Rep;
20162016 Dec 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28003230
17.
Small-molecule activators of insulin-degrading enzyme discovered through high-throughput compound screening.
PLoS One;
4(4): e5274, 2009.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19384407