Detalhe da pesquisa
1.
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.
Hum Mutat
; 37(2): 184-93, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26629787
2.
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
Hum Mutat
; 35(10): 1179-86, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24944099
3.
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
Mol Vis
; 19: 367-73, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23441107
4.
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Hum Mutat
; 33(1): 104-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22009552
5.
Non-USH2A mutations in USH2 patients.
Hum Mutat
; 33(3): 504-10, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22147658
6.
Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.
J Am Soc Nephrol
; 21(1): 113-23, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19959718
7.
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
Hum Mutat
; 31(6): 734-41, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513143
8.
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
Hum Mutat
; 29(8): E76-87, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18484607
9.
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Hum Mutat
; 28(8): 781-9, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17405132
10.
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.
Mol Vis
; 13: 102-7, 2007 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-17277737
11.
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Brain
; 128(Pt 4): 743-51, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15689360
12.
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.
Eur J Hum Genet
; 13(12): 1254-60, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16077730
13.
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Neuromuscul Disord
; 14(10): 650-8, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15351422
14.
No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.
Am J Med Genet
; 109(2): 117-20, 2002 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-11977159
15.
Three craniosynostotic patients with tracheal sleeve.
Clin Dysmorphol
; 12(1): 75, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12514372
16.
Experience of targeted Usher exome sequencing as a clinical test.
Mol Genet Genomic Med
; 2(1): 30-43, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24498627
17.
Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bank.
Clin J Am Soc Nephrol
; 6(4): 760-6, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21441121
18.
Four-year follow-up of diagnostic service in USH1 patients.
Invest Ophthalmol Vis Sci
; 52(7): 4063-71, 2011 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21436283
19.
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
Neurogenetics
; 8(1): 39-44, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16969684
20.
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.
J Pediatr Urol
; 3(1): 2-9, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17476318