Detalhe da pesquisa
1.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Am J Hum Genet
; 99(3): 555-566, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569549
2.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
J Med Genet
; 55(7): 497-504, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574422
3.
Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue.
Cytogenet Genome Res
; 156(1): 9-13, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30016768
4.
[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome]. / Elsodleges genetikai vizsgálat PraderWilli-szindróma igazolására.
Orv Hetil
; 159(2): 64-69, 2018 Jan.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29307221
5.
Epigenetic germline mosaicism in infertile men.
Hum Mol Genet
; 24(5): 1295-304, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25336341
6.
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
Am J Med Genet A
; 173(3): 753-757, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28211971
7.
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Hum Mol Genet
; 22(3): 544-57, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23118352
8.
A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
BMC Med Genet
; 16: 30, 2015 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943194
9.
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.
Am J Med Genet A
; 167(7): 1565-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899869
10.
A familial disorder of altered DNA-methylation.
J Med Genet
; 51(6): 407-12, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24721835
11.
The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.
Hum Mol Genet
; 21(18): 4038-48, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22694955
12.
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Hum Mol Genet
; 19(10): 1967-73, 2010 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179077
13.
The human retinoblastoma gene is imprinted.
PLoS Genet
; 5(12): e1000790, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20041224
14.
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Front Med (Lausanne)
; 9: 953643, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341250
15.
Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete.
Hum Mol Genet
; 18(8): 1439-48, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19223391
16.
Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Mol Genet Genomic Med
; 9(10): e1796, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510813
17.
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.
Neurogenetics
; 11(2): 153-61, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20020165
18.
Prader-Willi syndrome and Angelman syndrome.
Am J Med Genet C Semin Med Genet
; 154C(3): 365-76, 2010 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803659
19.
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
BMC Med Genet
; 11: 70, 2010 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20459762
20.
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
Blood
; 112(10): 4090-7, 2008 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18728247