Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
J Med Genet
; 61(2): 109-116, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734846
3.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Genet Med
; 26(1): 101007, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37860968
4.
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
J Med Genet
; 61(1): 84-92, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586836
5.
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Genet Med
; 23(2): 331-340, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082559
6.
Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Am J Med Genet A
; 185(7): 2108-2118, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33908178
7.
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
Int J Mol Sci
; 22(7)2021 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33916664
8.
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Am J Med Genet C Semin Med Genet
; 181(4): 509-518, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31643139
9.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
10.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
11.
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
12.
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.
Reprod Biomed Online
; 35(4): 372-378, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28711302
13.
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Neurol Genet
; 10(2): e200146, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38617198
14.
An intermediate phenotype in IDH related enchondromatosis spectrum.
Eur J Med Genet
; 66(3): 104697, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36649847
15.
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.
Eur J Med Genet
; 66(10): 104848, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37739061
16.
New perspectives on the treatment of skeletal dysplasia.
Ther Adv Endocrinol Metab
; 11: 2042018820904016, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32166011
17.
Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.
Eur J Med Genet
; 63(2): 103729, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319224
18.
A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Eur J Med Genet
; 63(4): 103776, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562959
19.
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
Brain Dev
; 40(9): 768-774, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861155