Detalhe da pesquisa
1.
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
Am J Hum Genet
; 91(6): 1122-7, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159249
2.
Central 22q11.2 deletions.
Am J Med Genet A
; 164A(11): 2707-23, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123976
3.
Unstable transmission of a familial complex chromosome rearrangement.
Am J Med Genet A
; 158A(11): 2888-93, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987625
4.
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
Brain
; 133(Pt 1): 23-32, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19843651
5.
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Brain
; 132(Pt 10): 2699-711, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19651702
6.
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Hum Mutat
; 30(3): 334-41, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006240
7.
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
Am J Med Genet A
; 146A(11): 1430-8, 2008 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18452192
8.
Loss-of-function variants of SCN8A in intellectual disability without seizures.
Neurol Genet
; 3(4): e170, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28702509
9.
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Neurology
; 88(5): 483-492, 2017 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053010
10.
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.
Mol Syndromol
; 7(4): 239-246, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27781034
11.
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
Neurotherapeutics
; 13(1): 192-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26252990
12.
Structural genomic variation in childhood epilepsies with complex phenotypes.
Eur J Hum Genet
; 22(7): 896-901, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24281369
13.
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
Eur J Hum Genet
; 22(5): 652-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105367
14.
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
Eur J Hum Genet
; 20(10): 1024-31, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473091
15.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Nat Genet
; 44(7): 793-6, 2012 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22610116
16.
Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
Neurotherapeutics
; 13(1): 238, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297079