Detalles de la búsqueda
1.
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Am J Med Genet A
; : e63642, 2024 May 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38711237
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36371792
3.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34042254
4.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32152250
5.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32277047
6.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31363182
7.
Pubertal outcomes of children transplanted with allogeneic stem cells after myeloablative total body irradiation or busulfan: Influence of age and sex is confirmed, while a role of chronic graft-versus-host disease in delayed puberty onset is revealed.
Pediatr Transplant
; 24(6): e13773, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32701220
8.
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.
Hum Genet
; 138(7): 703-713, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31139930
9.
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Genet Med
; 21(9): 2015-2024, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30739908
10.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
J Med Genet
; 55(3): 173-180, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29070607
11.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29618507
12.
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Hum Mol Genet
; 25(3): 472-83, 2016 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26612202
13.
Genetic analysis of adults heterozygous for ALPL mutations.
J Bone Miner Metab
; 36(6): 723-733, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-29236161
14.
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
J Med Genet
; 54(2): 100-103, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27582083
15.
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Am J Med Genet C Semin Med Genet
; 175(4): 417-430, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29178447
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25205112
17.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28283832
18.
Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia.
Blood
; 125(6): 930-40, 2015 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-25490895
19.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
J Med Genet
; 53(2): 98-110, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26502894
20.
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Hum Mutat
; 37(8): 755-64, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27094817