Detalhe da pesquisa
1.
The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.
Alzheimers Dement
; 20(2): 1298-1308, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37985413
2.
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Hum Mol Genet
; 26(20): 4055-4066, 2017 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29016863
3.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet
; 24(9): 2594-603, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616960
4.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat
; 37(2): 170-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593283
5.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum Mutat
; 37(9): 847-64, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27302555
6.
VPA response in SMA is suppressed by the fatty acid translocase CD36.
Hum Mol Genet
; 22(2): 398-407, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23077215
7.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat
; 35(10): 1153-62, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044745
8.
A mutation screen in patients with Kabuki syndrome.
Hum Genet
; 130(6): 715-24, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21607748
9.
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Mol Vis
; 17: 1940-5, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850168
10.
Generation of a set of isogenic iPSC lines carrying all APOE genetic variants (Æ2/Æ3/Æ4) and knock-out for the study of APOE biology in health and disease.
Stem Cell Res
; 52: 102180, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33556820
11.
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.
Front Genet
; 8: 130, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29018476
12.
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Orphanet J Rare Dis
; 10: 15, 2015 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759012
13.
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Elife
; 42015 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26386247
14.
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
Orphanet J Rare Dis
; 9: 12, 2014 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24456803
15.
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Eur J Hum Genet
; 22(2): 286-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23838597