Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

Karin Buiting, Stephanie Groß, Christina Lich, +3

The American Journal of Human Genetics

Imprinting DefectMolecular StudyAngelman Syndromes

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Karin Buiting, Bärbel Dittrich, Stephanie Groß, +31

The American Journal of Human Genetics

Developmental AnomalyGenetic DisorderGeneticsSporadic Imprinting DefectsGynecology +6

Maternal methylation imprints on human chromosome 15 are established during or after fertilization

Osman El‐Maarri, Karin Buiting, Edwin G. Peery, +9

Nature Genetics

ChromatinInfertilityFertilityMaternal Methylation ImprintsEpigenetic Change +11

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.

Michael Zeschnigk, Christina Lich, Karin Buiting, +2

PubMed

A Single-Tube PCR Test for the Diagnosis of Angelman and Prader-Willi Syndrome Based on Allelic Methylation Differences at the SNRPN Locus

Michael Zeschnigk, Christina Lich, Karin Buiting, +2

European Journal of Human Genetics

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

Karin Buiting, Christina Lich, S Cottrell, +2

Human Genetics

Shortest RegionAngelman SyndromeGeneticsDeletion OverlapMedicine +1

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

Bernhard Horsthemke, Anneke Maat‐Kievit, Eva Sleegers, +7

Journal of Medical Genetics

Interstitial DeletionsGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +14

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

Gabriele Gillessen‐Kaesbach, Stephanie Demuth, Hannelore Thiele, +3

European Journal of Human Genetics

Clinical DisordersPsychiatryAngelman SyndromeUnrecognised PhenotypeMedicine +2

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted<i>DLK1/GTL2</i>gene cluster

Karin Buiting, Deniz Kanber, José I. Martı́n-Subero, +7

Human Mutation

Epigenetic ChangeGeneticsDna MethylationPathologyClinical Features +17

Disruption of the Bipartite Imprinting Center in a Family with Angelman Syndrome

Karin Buiting, Angela Barnicoat, Christina Lich, +3

The American Journal of Human Genetics

InfertilityAngelman SyndromeBipartite Imprinting CenterGynecologyMedicine