Detalhe da pesquisa
1.
Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.
Mol Psychiatry
; 26(9): 5307-5319, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32719466
2.
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Hum Mol Genet
; 25(19): 4302-4314, 2016 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27506977
3.
Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders.
Br J Psychiatry
; 213(3): 535-541, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30113282
4.
A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 21-34, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-28851104
5.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24439109
6.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Am J Hum Genet
; 91(3): 553-64, 2012 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-22901947
7.
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Mov Disord
; 30(6): 854-8, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25772097
8.
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Mol Genet Metab
; 113(1-2): 76-83, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25087164
9.
Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.
Nat Genet
; 31(3): 272-5, 2002 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-12089524
10.
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Nat Genet
; 35(2): 185-9, 2003 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-14517542
11.
Null mutations in LTBP2 cause primary congenital glaucoma.
Am J Hum Genet
; 84(5): 664-71, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19361779
12.
Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 159B(4): 392-404, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22419519
13.
RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization.
BMC Genomics
; 12: 156, 2011 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-21418615
14.
Ndrg1 in development and maintenance of the myelin sheath.
Neurobiol Dis
; 42(3): 368-80, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21303696
15.
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
Mov Disord
; 31(12): 1929-1931, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27787937
16.
Analysis of published PKD1 gene sequence variants.
Nat Genet
; 39(4): 427-8, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17392796
17.
Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 156(2): 204-14, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21302349
18.
Reply: Mutations in TUBB4A and spastic paraplegia.
Mov Disord
; 30(13): 1858-9, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26477690
19.
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Epileptic Disord
; 12(2): 117-24, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20562086
20.
Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 153B(2): 428-437, 2010 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-19569075