Detalhe da pesquisa
1.
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
J Med Genet
; 60(1): 99-105, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35264407
2.
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Am J Hum Genet
; 90(3): 518-23, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22405087
3.
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.
Blood
; 121(1): 129-35, 2013 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23149847
4.
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
Blood
; 121(25): 5078-87, 2013 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23599270
5.
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
J Assist Reprod Genet
; 32(6): 887-91, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899990
6.
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Genome Res
; 21(5): 658-64, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21487076
7.
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
J Med Genet
; 50(2): 118-23, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23339110
8.
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
Am J Hum Genet
; 86(1): 93-7, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20036350
9.
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Am J Hum Genet
; 87(5): 667-70, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20950787
10.
Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.
Am J Med Genet A
; 161A(12): 3115-20, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24254849
11.
West syndrome caused by ST3Gal-III deficiency.
Epilepsia
; 54(2): e24-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23252400
12.
An SNX10 mutation causes malignant osteopetrosis of infancy.
J Med Genet
; 49(4): 221-6, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499339
13.
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.
Mol Genet Metab
; 104(4): 517-20, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019070
14.
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
Am J Med Genet A
; 155A(11): 2801-6, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990102
15.
Drosophila LIM-only is a positive regulator of transcription during thoracic bristle development.
Genetics
; 179(4): 1989-99, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18689881
16.
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.
PLoS One
; 7(5): e36458, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22563501