Detalhe da pesquisa
1.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35411967
2.
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Mod Pathol
; 31(7): 1116-1130, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29463882
3.
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Hum Mol Genet
; 17(24): 3847-53, 2008 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18801880
4.
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
PLoS Genet
; 3(6): e108, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17590087
5.
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
Mol Genet Genomic Med
; 7(1): e00476, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30345660
6.
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Ann Neurol
; 62(4): 390-405, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17886299
7.
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
N Engl J Med
; 346(2): 99-106, 2002 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-11784876
8.
MURCS and thenar hypoplasia.
Clin Dysmorphol
; 16(4): 275-6, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17786122
9.
Cochlear implants for DFNA17 deafness.
Laryngoscope
; 116(12): 2211-5, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17146397
10.
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1).
Mol Genet Metab
; 99(3): 329, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20036594
11.
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.
BMC Med Genet
; 6: 18, 2005 May 06.
Artigo
Inglês
| MEDLINE | ID: mdl-15877813
12.
Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.
J Neurol Sci
; 351(1-2): 140-145, 2015 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25813273
13.
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
Microarrays (Basel)
; 4(4): 490-502, 2015 Oct 23.
Artigo
Inglês
| MEDLINE | ID: mdl-27600236
14.
Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families.
Breast Cancer Res
; 6(4): R401-7, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15217508
15.
Familial digital arthropathy-brachydactyly.
Am J Med Genet
; 108(3): 235-40, 2002 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-11891693
16.
Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation.
Genet Res Int
; 2013: 189196, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24062953
17.
Deletions that reveal recessive genes.
Eur J Hum Genet
; 15(11): 1103-4, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17726482
18.
Spinocerebellar ataxia type 15.
Handb Clin Neurol
; 103: 561-5, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-21827915
19.
Spinocerebellar ataxia type 20.
Handb Clin Neurol
; 103: 567-73, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-21827916
20.
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
Am J Med Genet A
; 143A(14): 1599-604, 2007 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17568404