Karin Buiting

Essen, NW, Germany

Last Updated: 09/26/2026

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Found 52 publications

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.

Journal: Frontiers in medicine

Published: May 26, 2022

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Journal: Molecular genetics & genomic medicine

Published: April 28, 2021

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15.

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15.

Journal: European journal of human genetics : EJHG

Published: August 30, 2019

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

Journal: Journal of the Endocrine Society

Published: February 25, 2019

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Journal: European journal of human genetics : EJHG

Published: December 31, 2018

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Journal: Epigenetics

Published: September 20, 2018

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.

Journal: European journal of human genetics : EJHG

Published: September 04, 2018

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.

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.

Journal: Cytogenetic and genome research

Published: March 13, 2018

Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome

Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome

Journal: Orvosi hetilap

Published: January 09, 2018

Molecular and clinical studies in 8 patients with Temple syndrome.

Molecular and clinical studies in 8 patients with Temple syndrome.

Journal: Clinical genetics

Published: January 09, 2018

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Journal: Journal of medical genetics

Published: December 01, 2017

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

Journal: Molecular genetics & genomic medicine

Published: May 12, 2017

Showing 1-12 of 52

Last Updated: 09/26/2026