List of works - Karin Buiting

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

scientific article published on 6 May 2015

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

scientific article

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

scientific article published on July 2014

Angelman syndrome - insights into a rare neurogenetic disorder

scientific article published on 12 September 2016

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

scientific article published on 25 August 2016

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

scientific article

Evidence for anticipation in Beckwith-Wiedemann syndrome

scientific article published on 10 April 2013

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

scientific article

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

scientific article

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

scientific article published on 12 December 2012

Genomic imprinting and imprinting defects in humans

scientific article published on January 2008

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

scientific article

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

scientific article published on 15 June 2010

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

scientific article

Maintenance of imprinting and nuclear architecture in cycling cells

scholarly article

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

scientific article

Mosaicism and uniparental disomy in prenatal diagnosis

scientific article published on 02 December 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Prader–Willi syndrome and Angelman syndrome ⬇️

scientific article published on August 15, 2010

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

scientific article

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

scientific article

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

scientific article

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

scientific article published on 6 November 2015

The human retinoblastoma gene is imprinted

scientific article

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

scientific article published on February 2014

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

scientific article

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

scientific article published on 30 October 2012

The origin of the RB1 imprint

scientific article

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

scientific article

List of works by 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