Detalhe da pesquisa
1.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277047
3.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
4.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
5.
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
J Med Genet
; 53(8): 536-47, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27073233
6.
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Am J Hum Genet
; 90(5): 907-14, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22560091
7.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nat Genet
; 38(5): 521-4, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16582908
8.
C5orf42 is the major gene responsible for OFD syndrome type VI.
Hum Genet
; 133(3): 367-77, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24178751
9.
On the role of FAN1 in Fanconi anemia.
Blood
; 120(1): 86-9, 2012 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-22611161
10.
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
Am J Med Genet A
; 164A(6): 1537-44, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668847
11.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Nat Commun
; 14(1): 853, 2023 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792598
12.
Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.
Am J Hematol
; 87(2): 208-10, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22139979
13.
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Eur J Hum Genet
; 30(3): 291-297, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897289
14.
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
J Med Genet
; 47(8): 549-53, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20656880
15.
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Hum Mutat
; 31(10): 1134-41, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20690116
16.
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Hum Mutat
; 28(8): 781-9, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17405132
17.
Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.
Pediatr Dev Pathol
; 19(4): 334-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26529397
18.
New insights into genotype-phenotype correlation for GLI3 mutations.
Eur J Hum Genet
; 23(1): 92-102, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24736735
19.
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Eur J Hum Genet
; 22(2): 289-92, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23674175
20.
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
EMBO Mol Med
; 6(7): 984-92, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24940003