Detalhe da pesquisa
1.
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
Brain
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538210
2.
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Proc Natl Acad Sci U S A
; 119(26): e2204084119, 2022 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35727972
3.
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
Hum Mol Genet
; 30(11): 985-995, 2021 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791800
4.
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
Proc Natl Acad Sci U S A
; 116(4): 1347-1352, 2019 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30610177
5.
FOXF2 is required for cochlear development in humans and mice.
Hum Mol Genet
; 28(8): 1286-1297, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561639
6.
Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.
FASEB J
; 33(3): 3152-3166, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365366
7.
Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.
Am J Med Genet A
; 179(7): 1366-1370, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066191
8.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Proc Natl Acad Sci U S A
; 113(21): 5993-8, 2016 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27162350
9.
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Hum Genet
; 137(6-7): 479-486, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982980
10.
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Proc Natl Acad Sci U S A
; 111(27): 9864-8, 2014 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24958875
11.
Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
Hum Mol Genet
; 23(7): 1771-82, 2014 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218365
12.
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Hum Genet
; 134(2): 181-90, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25413698
13.
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
PLoS Genet
; 8(5): e1002713, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22654670
14.
Transient receptor potential channel 6 (TRPC6) protects podocytes during complement-mediated glomerular disease.
J Biol Chem
; 288(51): 36598-609, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24194522
15.
Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America.
Genes (Basel)
; 15(2)2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397168
16.
Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.
Transl Psychiatry
; 14(1): 33, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238293
17.
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
Eur J Hum Genet
; 32(6): 639-646, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374469
18.
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
JCI Insight
; 9(5)2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38300707
19.
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
PLoS Biol
; 8(11): e1000543, 2010 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21124890
20.
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.
Pediatr Nephrol
; 28(11): 2143-7, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812353