Detalhe da pesquisa
1.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet
; 110(11): 1959-1975, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883978
2.
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
Am J Med Genet A
; 194(5): e63532, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192009
3.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
4.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 65(5): 1439-1450, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491959
5.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038360
6.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
7.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
8.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
9.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Hum Genomics
; 15(1): 44, 2021 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34256850
10.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenat Diagn
; 42(1): 118-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894355
11.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164801
12.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176129
13.
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Prenat Diagn
; 39(10): 871-882, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172545
14.
[Meningeal melanoma arising from a preexisting meningeal melanocytoma: A clinical, pathological and cytogenetic study about one case]. / Transformation d'un mélanocytome méningé en mélanome : étude clinique, histopathologique et cytogénétique.
Ann Pathol
; 39(5): 352-356, 2019 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-30824318
15.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Clin Genet
; 103(3): 377-379, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444497
16.
Characterization of two deletions of the CTRC locus.
Mol Genet Metab
; 109(3): 296-300, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23721890
17.
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Hum Mutat
; 33(8): 1239-50, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508176
18.
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
Am J Med Genet A
; 173(5): 1444-1446, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371320
19.
Identification of a novel population in high-grade oligodendroglial tumors not deleted on 1p/19q using array CGH.
J Neurooncol
; 109(2): 405-13, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22825724
20.
Duplication of SOX3 (Xq27) may be a risk factor for Neural Tube Defects.
Am J Med Genet A
; 167(7): 1676-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900196