Detalhe da pesquisa
1.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424388
2.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol
; 93(2): 330-335, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333996
3.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
4.
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
5.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
6.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005812
7.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
8.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
9.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
10.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
11.
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.
Clin Genet
; 102(4): 296-304, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821609
12.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
13.
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
14.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163737
15.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
Int J Mol Sci
; 23(22)2022 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430143
16.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345024
17.
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
Clin Genet
; 100(2): 206-212, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33890303
18.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506510
19.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clin Genet
; 99(3): 407-417, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277917
20.
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Am J Med Genet A
; 185(6): 1803-1815, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33754465