Detalhe da pesquisa
1.
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
J Med Genet
; 61(6): 595-604, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408845
2.
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Genet Med
; : 101081, 2024 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293907
3.
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
4.
RNF213-associated urticarial lesions with hypercytokinemia.
J Allergy Clin Immunol
; 150(6): 1545-1555, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35780935
5.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866188
6.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470444
7.
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Am J Med Genet A
; 185(10): 3057-3061, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043868
8.
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet
; 57(3): 160-168, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586944
9.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
10.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Int J Mol Sci
; 22(15)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360642
11.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Hum Mol Genet
; 27(7): 1228-1240, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29373757
12.
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Genet Med
; 22(11): 1887-1891, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32565546
13.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997391
14.
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
15.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet
; 55(3): 205-213, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29223973
16.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Am J Hum Genet
; 97(5): 691-707, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26544804
17.
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Am J Med Genet A
; 176(1): 151-155, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130637
18.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379373
19.
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
Hum Mutat
; 38(1): 105-111, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27701793
20.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832