Detalhe da pesquisa
1.
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
RNA;
26(11): 1654-1666, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32763916
2.
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Clin Genet;
99(2): 325-329, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33174625
3.
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Am J Med Genet A;
176(8): 1748-1752, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30055040
4.
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Am J Med Genet B Neuropsychiatr Genet;
177(1): 10-20, 2018 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28990276
5.
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
Hum Mutat;
38(10): 1394-1401, 2017 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28581210
6.
Mutations in HECW2 are associated with intellectual disability and epilepsy.
J Med Genet;
53(10): 697-704, 2016 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27334371
7.
A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.
Hum Mutat;
37(9): 964-75, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27328812
8.
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.
Genet Mol Biol;
39(3): 349-57, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27561113
9.
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.
Am J Hum Genet;
89(2): 295-301, 2011 Aug 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21802062
10.
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Clin Genet;
95(3): 436-439, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30525197
11.
Whole ARX gene duplication is compatible with normal intellectual development.
Am J Med Genet A;
164A(9): 2324-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25044608
12.
Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.
Mol Genet Genomic Med;
12(1): e2295, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37916443
13.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Am J Med Genet B Neuropsychiatr Genet;
162B(4): 388-403, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23533028
14.
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Am J Med Genet A;
158A(7): 1633-40, 2012 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22678713
15.
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
Neurogenetics;
12(1): 65-72, 2011 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21225301
16.
MLGA--a rapid and cost-efficient assay for gene copy-number analysis.
Nucleic Acids Res;
35(17): e115, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17823203
17.
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
Acta Paediatr;
98(4): 693-8, 2009 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19120036
18.
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.
Hum Mutat;
29(3): 398-408, 2008 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18058796
19.
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
Eur J Paediatr Neurol;
22(6): 1095-1102, 2018 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30194038
20.
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
Eur J Hum Genet;
15(2): 143-9, 2007 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17106445