Detalhe da pesquisa
1.
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.
Proc Natl Acad Sci U S A
; 118(51)2021 12 21.
Artigo
Inglês
| MEDLINE | ID: mdl-34916285
2.
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
Ann Neurol
; 81(1): 68-78, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27863452
3.
Novel mutations target distinct subgroups of medulloblastoma.
Nature
; 488(7409): 43-8, 2012 Aug 02.
Artigo
Inglês
| MEDLINE | ID: mdl-22722829
4.
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.
BMC Med Genet
; 18(1): 33, 2017 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-28327087
5.
Cell type specificity of PI3K signaling in Pdk1- and Pten-deficient brains.
Genes Dev
; 23(14): 1619-24, 2009 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19605683
6.
Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency.
Proc Natl Acad Sci U S A
; 106(6): 1880-5, 2009 Feb 10.
Artigo
Inglês
| MEDLINE | ID: mdl-19164512
7.
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
Nat Med
; 9(4): 399-406, 2003 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-12627228
8.
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.
Neuromuscul Disord
; 30(6): 457-471, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32444167
9.
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
Am J Med Genet A
; 164A(6): 1614-7, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24668585
10.
S6k1 is not required for Pten-deficient neuronal hypertrophy.
Brain Res
; 1100(1): 32-41, 2006 Jul 19.
Artigo
Inglês
| MEDLINE | ID: mdl-16777079
11.
Severe malignant osteopetrosis caused by a GL gene mutation.
J Bone Miner Res
; 19(7): 1194-9, 2004 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-15177004
12.
Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.
BMC Res Notes
; 7: 747, 2014 Oct 22.
Artigo
Inglês
| MEDLINE | ID: mdl-25339461
13.
PTEN and the PI3-kinase pathway in cancer.
Annu Rev Pathol
; 4: 127-50, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-18767981
14.
Linkage disequilibrium and founder effect analysis of the NF1 gene in French Canadians from the Quebec population.
Ann Genet
; 45(1): 39-44, 2002.
Artigo
Inglês
| MEDLINE | ID: mdl-11934389