Detalhe da pesquisa
1.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
2.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
3.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
4.
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Clin Genet
; 97(6): 908-914, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32092148
5.
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
J Peripher Nerv Syst
; 25(2): 117-124, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32096284
6.
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Hum Mol Genet
; 26(3): 519-526, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053047
7.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet
; 97(2): 343-52, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235985
8.
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Genet Med
; 20(11): 1430-1437, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595812
9.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
10.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405817
11.
The Phenotypic Continuum of ATP1A3-Related Disorders.
Neurology
; 99(14): e1511-e1526, 2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192182
12.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med
; 359(16): 1685-99, 2008 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18784092
13.
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.
Cell Rep
; 35(10): 109226, 2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34107259
14.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nat Commun
; 11(1): 1044, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32098966
15.
Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.
Eur J Hum Genet
; 10(12): 807-12, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12461687
16.
Mutations in ZBTB20 cause Primrose syndrome.
Nat Genet
; 46(8): 815-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25017102
17.
The genetic basis of DOORS syndrome: an exome-sequencing study.
Lancet Neurol
; 13(1): 44-58, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24291220
18.
Marfan syndrome presenting with headache and coincidental ophthalmic artery aneurysm.
BMJ Case Rep
; 20132013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505274
19.
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Orphanet J Rare Dis
; 8: 146, 2013 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24053514
20.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Nat Genet
; 44(11): 1243-8, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23001123