Detalhe da pesquisa
1.
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
Eur Heart J
; 37(23): 1826-34, 2016 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26537620
2.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Hum Mol Genet
; 23(17): 4479-90, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24714983
3.
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Am J Hum Genet
; 92(5): 707-24, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23643381
4.
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Hum Mol Genet
; 22(12): 2387-99, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23427148
5.
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Hum Mol Genet
; 22(13): 2652-61, 2013 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23466526
6.
Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.
Hum Mutat
; 35(7): 805-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24633926
7.
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.
Hum Mutat
; 34(6): 873-81, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23420618
8.
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.
Hum Mutat
; 34(2): 287-91, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23065710
9.
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
PLoS Genet
; 6(10)2010 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20949073
10.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Hum Mutat
; 33(1): 64-72, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22045651
11.
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Hum Reprod
; 27(5): 1460-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22416012
12.
Comparison of two known chromosomal rearrangements in the 뫧-globin complex with identical DNA breakpoints but causing different Hb A(2) levels.
Hemoglobin
; 36(2): 177-82, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22273484
13.
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Hum Mutat
; 32(12): 1436-49, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21898658
14.
Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development.
Dev Biol
; 341(2): 416-28, 2010 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206619
15.
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
Hum Genet
; 129(4): 387-96, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21184098
16.
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Mol Genet Genomic Med
; 9(11): e1645, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582124
17.
Review and update of mutations causing Waardenburg syndrome.
Hum Mutat
; 31(4): 391-406, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20127975
18.
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Am J Hum Genet
; 81(6): 1169-85, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17999358
19.
CSN5 binds to misfolded CFTR and promotes its degradation.
Biochim Biophys Acta
; 1783(6): 1189-99, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18267124
20.
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
Hum Mutat
; 29(1): 206, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18157833