Detalhe da pesquisa
1.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nat Genet
; 38(7): 752-4, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16783378
2.
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Nat Genet
; 38(2): 191-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16415887
3.
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Am J Hum Genet
; 88(4): 499-507, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21473985
4.
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
Am J Hum Genet
; 86(3): 471-8, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206334
5.
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
PLoS Genet
; 6(2): e1000833, 2010 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20140240
6.
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).
PLoS Genet
; 5(3): e1000423, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19300480
7.
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
Brain
; 133(10): 2964-70, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20833646
8.
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.
Mol Genet Metab
; 99(3): 325-8, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20005757
9.
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
Mol Vis
; 16: 650-64, 2010 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20405026
10.
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Clin Endocrinol (Oxf)
; 73(5): 671-7, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20718767
11.
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
Mol Vis
; 15: 1014-9, 2009 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19461930
12.
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
Eur J Hum Genet
; 15(2): 173-8, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17106446
13.
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Orphanet J Rare Dis
; 8: 74, 2013 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23679950
14.
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαß+ T cells.
J Clin Invest
; 121(2): 695-702, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21206088
15.
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
J Clin Invest
; 119(6): 1595-603, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19478460
16.
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).
Am J Hum Genet
; 78(1): 160-6, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16385460
17.
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
Am J Hum Genet
; 79(2): 390-5, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16826531
18.
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
Hum Genet
; 117(5): 452-9, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15959809