Detalhe da pesquisa
1.
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
Am J Med Genet A
; 176(5): 1212-1215, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29681085
2.
Benign and malignant tumors in Rubinstein-Taybi syndrome.
Am J Med Genet A
; 176(3): 597-608, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29359884
3.
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
Inglês
| MEDLINE | ID: mdl-29095566
4.
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Am J Med Genet A
; 170(10): 2681-93, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27311832
5.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27648933
6.
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.
Prenat Diagn
; 35(10): 945-9, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25767004
7.
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
Nat Genet
; 37(12): 1341-4, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16282976
8.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Hum Mutat
; 34(11): 1519-28, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23929686
9.
Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.
Brain
; 140(7): e42, 2017 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28549075
10.
Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.
Neurobiol Aging
; 73: 230.e9-230.e17, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30314815
11.
Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: a diagnostic challenge.
Mov Disord
; 28(14): 2035-6, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24038378
12.
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Clin Cancer Res
; 24(7): 1594-1603, 2018 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29351919
13.
Huntingtin gene repeat size variations affect risk of lifetime depression.
Transl Psychiatry
; 7(12): 1277, 2017 12 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29225330
14.
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
Mol Genet Genomic Med
; 4(1): 39-45, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26788536
15.
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Ann Clin Transl Neurol
; 3(11): 844-853, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27844030
16.
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
Eur J Hum Genet
; 24(11): 1639-1643, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27165009
17.
18.
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
Eur J Hum Genet
; 24(9): 1363-6, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-26956253
19.
Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?
J Huntingtons Dis
; 4(2): 141-8, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26397895
20.
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Eur J Hum Genet
; 23(5): 610-5, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25118028