Detalhe da pesquisa
1.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
2.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
3.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
4.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
5.
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Hum Mutat
; 41(5): 1042-1050, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097528
6.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet
; 99(5): 1206-1216, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843126
7.
27 years of prenatal diagnosis for Huntington disease in the United Kingdom.
Genet Med
; 21(7): 1639-1643, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30546084
8.
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 35-39, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095566
9.
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am J Hum Genet
; 99(6): 1406-1408, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912047
10.
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Brain Commun
; 6(1): fcad273, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38173802
11.
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Am J Hum Genet
; 87(3): 354-64, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20727516
12.
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Am J Med Genet A
; 155A(8): 1865-76, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21739582
13.
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Brain Commun
; 3(1): fcab002, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33634263
14.
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Am J Med Genet A
; 152A(7): 1621-6, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583147
15.
Identification of genomic loci contributing to agenesis of the corpus callosum.
Am J Med Genet A
; 152A(9): 2145-59, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683985
16.
Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection.
Nat Neurosci
; 22(9): 1533, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222187
17.
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection.
Nat Neurosci
; 22(2): 205-217, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664766
18.
Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?
Clin Dysmorphol
; 17(3): 157-159, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18541959
19.
Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome.
Clin Dysmorphol
; 17(4): 255-8, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18978653
20.
Cerebellar hypoplasia and Cohen syndrome: a confirmed association.
Am J Med Genet A
; 152A(9): 2390-3, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683995