Lista de obras - Karin Buiting - Dominio Público Uruguay

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

artículo científico publicado en 2015

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

artículo científico publicado en 2008

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

artículo científico publicado en 2014

Angelman syndrome - insights into a rare neurogenetic disorder

artículo científico publicado en 2016

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

artículo científico publicado en 2016

Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects

artículo científico publicado en 2013

Evidence for anticipation in Beckwith-Wiedemann syndrome

artículo científico publicado en 2013

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome

artículo científico publicado en 2005

Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

artículo científico publicado en 2009

Frequency and characterization of DNA methylation defects in children born SGA.

artículo científico publicado en 2012

Genomic imprinting and imprinting defects in humans

artículo científico publicado en 2008

Human PPP1R26P1 functions as cis-repressive element in mouse Rb1.

artículo científico publicado en 2013

Imprinting of RB1 (the new kid on the block).

artículo científico publicado en 2010

Low frequency of imprinting defects in ICSI children born small for gestational age.

artículo científico publicado en 2008

Maintenance of imprinting and nuclear architecture in cycling cells

artículo científico publicado en 2007

Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete

artículo científico publicado en 2009

Mosaicism and uniparental disomy in prenatal diagnosis

artículo científico

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

artículo científico publicado en 2008

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

artículo científico publicado en 2014

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

artículo científico publicado en 2014

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

artículo científico publicado en 2010

Prader–Willi syndrome and Angelman syndrome ⬇️

artículo científico publicado el 15 de agosto de 2010

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

artículo científico publicado en 2004

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

artículo científico publicado en 2004

The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection

artículo científico publicado en 2009

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

artículo científico publicado en 2015

The human retinoblastoma gene is imprinted

artículo científico publicado en 2009

The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes

artículo científico publicado en 2014

The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein

artículo científico publicado en 2012

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

artículo científico publicado en 2012

The origin of the RB1 imprint

artículo científico publicado en 2013

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

artículo científico publicado en 2013

Lista de obras de Karin Buiting

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

Angelman syndrome - insights into a rare neurogenetic disorder

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects

Evidence for anticipation in Beckwith-Wiedemann syndrome

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome

Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

Frequency and characterization of DNA methylation defects in children born SGA.

Genomic imprinting and imprinting defects in humans

Human PPP1R26P1 functions as cis-repressive element in mouse Rb1.

Imprinting of RB1 (the new kid on the block).

Low frequency of imprinting defects in ICSI children born small for gestational age.

Maintenance of imprinting and nuclear architecture in cycling cells

Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete

Mosaicism and uniparental disomy in prenatal diagnosis

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Prader–Willi syndrome and Angelman syndrome ⬇️

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

The human retinoblastoma gene is imprinted

The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes

The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein

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

The origin of the RB1 imprint

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity