Detalhe da pesquisa
1.
Molecular and clinical studies in 8 patients with Temple syndrome.
Clin Genet
; 93(6): 1179-1188, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29468661
2.
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Clin Genet
; 89(5): 564-73, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26671848
3.
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
Nat Genet
; 9(4): 395-400, 1995 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-7795645
4.
The imprinting box of the Prader-Willi/Angelman syndrome domain.
Nat Genet
; 26(4): 440-3, 2000 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11101841
5.
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
Nat Genet
; 14(2): 163-70, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8841186
6.
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch.
Nat Genet
; 25(1): 74-8, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10802660
7.
Maternal methylation imprints on human chromosome 15 are established during or after fertilization.
Nat Genet
; 27(3): 341-4, 2001 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11242121
8.
Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.
Clin Genet
; 80(1): 83-8, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20738330
9.
Slow progression of a small Wilms' tumor.
Klin Padiatr
; 222(3): 190-1, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20514626
10.
Malignant melanoma and Wiedemann-Beckwith syndrome in childhood.
Klin Padiatr
; 222(6): 388-90, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21058226
11.
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.
Clin Genet
; 73(1): 79-84, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18070127
12.
Methylation analysis of the PWS/AS region does not support an enhancer-competition model.
Nat Genet
; 19(4): 324-5, 1998 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-9697691
13.
Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
Clin Genet
; 81(3): 298-300, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22211632
14.
Imprinting defects on human chromosome 15.
Cytogenet Genome Res
; 113(1-4): 292-9, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16575192
15.
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.
Eur J Hum Genet
; 5(2): 94-8, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-9195159
16.
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
Eur J Hum Genet
; 9(7): 519-26, 2001 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-11464243
17.
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
Am J Med Genet
; 68(2): 195-206, 1997 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-9028458
18.
Molecular and Clinical Aspects of Angelman Syndrome.
Mol Syndromol
; 2(3-5): 100-112, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22670133
19.
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.
Mol Syndromol
; 2(2): 53-59, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22712005
20.
Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element.
J Med Genet
; 41(12): e122, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15591264