Detalhe da pesquisa
1.
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.
Am J Med Genet A
; 164A(3): 736-40, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24357605
2.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Brain
; 136(Pt 12): 3634-44, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24176978
3.
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
Clin Nephrol
; 79(1): 78-80, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23249873
4.
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.
J Med Genet
; 49(9): 547-53, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22844132
5.
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
J Pediatr
; 161(5): 933-42, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22683032
6.
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.
Am J Med Genet A
; 158A(2): 423-8, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22246686
7.
Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.
Am J Med Genet A
; 158A(11): 2815-9, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22987336
8.
Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region.
Am J Med Genet A
; 152A(2): 356-9, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-20101688
9.
Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).
Am J Med Genet A
; 152A(6): 1484-7, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20503324
10.
Genetic and epigenetic findings in Silver-Russell syndrome.
Pediatr Endocrinol Rev
; 8(2): 86-93, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21150838
11.
LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants.
J Pediatr Endocrinol Metab
; 22(6): 555-9, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19694203
12.
Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.
J Pediatr
; 163(4): 1202-7, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23809048
13.
IGF1R mutation analysis in short children with Silver-Russell syndrome features.
J Pediatr Genet
; 2(3): 113-7, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27625849
14.
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
Eur J Hum Genet
; 21(7): 788-91, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23188046
15.
Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Expert Rev Mol Diagn
; 12(5): 459-71, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22702363
16.
2p21 Deletions in hypotonia-cystinuria syndrome.
Eur J Med Genet
; 55(10): 561-3, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22766003
17.
Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci.
Epigenetics
; 7(5): 473-81, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22419125
18.
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varón syndrome or report of a new entity.
Eur J Med Genet
; 55(1): 27-31, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22044576
19.
Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints.
J Pediatr Genet
; 1(2): 143-7, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27625815
20.
Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome.
Genet Test Mol Biomarkers
; 15(10): 725-6, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21612428