S
Stephanie Gross
Publications - 9
Citations - 1268
Stephanie Gross is an academic researcher. The author has contributed to research in topics: Genomic imprinting & Chromosome 15. The author has an hindex of 8, co-authored 9 publications receiving 1241 citations.
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Journal ArticleDOI
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
Karin Buiting,Shinji Saitoh,Shinji Saitoh,Stephanie Gross,Bärbel Dittrich,Stuart Schwartz,Stuart Schwartz,Robert D. Nicholls,Robert D. Nicholls,Bernhard Horsthemke +9 more
TL;DR: A subset of patients with Angelman and Prader–Willi syndrome have apparently normal chromosomes of biparental origin, but abnormal DMA methylation at several loci within chromosome 15q11–13, and probably have a defect in imprinting.
Journal ArticleDOI
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples
Michael Ludwig,Alexander Katalinic,Stephanie Gross,Alastair G. Sutcliffe,Raymonda Varon,Bernhard Horsthemke +5 more
TL;DR: The findings suggest that imprinting defects and subfertility may have a common cause, and that superovulation rather than ICSI may further increase the risk of conceiving a child with an imprinting defect.
Journal ArticleDOI
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.
Gabriele Gillessen-Kaesbach,Stephanie Gross,S Kaya-Westerloh,Eberhard Passarge,Bernhard Horsthemke +4 more
TL;DR: It is concluded that the PW71 methylation test detects most, if not all, patients with typical Prader-Willi syndrome and that PWS is often not recognised in infants and wrongly suspected in obese and mentally retarded patients.
Journal ArticleDOI
Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region
TL;DR: The findings suggest that the PW71 methylation imprint is established in the germline and that extraembryonic tissues and tumors are hypomethylated.
Journal ArticleDOI
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.
Karin Buiting,Deniz Kanber,José I. Martín-Subero,Wolfgang Lieb,Paulien A Terhal,Beate Albrecht,Sabine Purmann,Stephanie Gross,Christina Lich,Reiner Siebert,Bernhard Horsthemke,Gabriele Gillessen-Kaesbach +11 more
TL;DR: It is demonstrated that the upd(14)mat phenotype is caused by altered expression of genes within this cluster, which is regulated by a differentially methylated region (IG‐DMR) between DLK1 and GTL2.