Detalhe da pesquisa
1.
Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7.
Cerebellum
; 18(3): 388-396, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637674
2.
NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.
Cerebellum
; 16(4): 852-858, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28456900
3.
Biomarkers of genome instability and cancer epigenetics.
Tumour Biol
; 37(10): 13029-13038, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27468720
4.
Influence of estrogen and variations at the BRCA1 promoter region on transcription and translation.
Mol Biol Rep
; 41(1): 489-95, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24293149
5.
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients.
Genet Mol Biol
; 35(4): 714-24, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23271929
6.
Corpus callosum dysgenesis causes novel patterns of structural and functional brain connectivity.
Brain Commun
; 3(2): fcab057, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704021
7.
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Hum Mutat
; 31(1): 81-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19847792
8.
ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
Cerebellum
; 14(6): 728-30, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25869926
9.
Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.
BMC Med Genet
; 10: 75, 2009 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19640284
10.
Hereditary retinoblastoma transmitted by maternal germline mosaicism.
Pediatr Blood Cancer
; 51(5): 598-602, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18661485
11.
TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma.
Fam Cancer
; 17(1): 119-122, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28477317
12.
A polymorphism in mir-34b/c as a potential biomarker for early onset of hereditary retinoblastoma.
Cancer Biomark
; 18(3): 313-317, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28106538
13.
RFC-1 80G>A polymorphism in case-mother/control-mother dyads is associated with risk of nephroblastoma and neuroblastoma.
Genet Test Mol Biomarkers
; 19(2): 75-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25536437
14.
Clinical characteristics of alopecia areata in Down syndrome.
Acta Dermatovenerol Croat
; 21(4): 253-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24476614
15.
Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.
Invest Ophthalmol Vis Sci
; 54(5): 3184-94, 2013 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23532519
16.
WT1, WTX and CTNNB1 mutation analysis in 43 patients with sporadic Wilms' tumor.
Oncol Rep
; 29(1): 315-20, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23117548
17.
More epigenetic hits than meets the eye: microRNAs and genes associated with the tumorigenesis of retinoblastoma.
Front Genet
; 3: 284, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23233862
18.
Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.
Fam Cancer
; 11(4): 657-60, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22829013
19.
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome.
Hered Cancer Clin Pract
; 9: 12, 2011 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22185575
20.
The mutation spectrum in RECQL4 diseases.
Eur J Hum Genet
; 17(2): 151-8, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18716613