C. Lich

发表

Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling

B. Horsthemke, L. Brueton, P. Kroisel, 2000, Clinical genetics.

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

K. Sperling, A. Reis, B. Horsthemke, 1997, American 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

B. Horsthemke, A. Barnicoat, K. Buiting, 1999, Human Genetics.

Disruption of the bipartite imprinting center in a family with Angelman syndrome.

M. Pembrey, S. Malcolm, B. Horsthemke, 2001, American journal of human genetics.

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

J. Walter, O. el-Maarri, C. Brannan, 2001, Nature Genetics.

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

I. Temple, I. Lerer, D. Abeliovich, 1999, American journal of human genetics.

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

W. Doerfler, B. Horsthemke, K. Buiting, 1997 .

Methylation Analysis of Several Tumour Suppressor Genes Shows a Low Frequency of Methylation of CDKN2A and RARB in Uveal Melanomas

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2003, Comparative and functional genomics.

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

A. V. D. van den Ouweland, B. Horsthemke, G. Gillessen‐kaesbach, 1996, Journal of medical genetics.

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.

L. Klein-Hitpass, B. Horsthemke, G. Gillessen‐kaesbach, 2003, Human molecular genetics.

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.

O. el-Maarri, B. Horsthemke, G. Gillessen‐kaesbach, 2003, American journal of human genetics.

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

R. Siebert, W. Lieb, B. Horsthemke, 2008, Human mutation.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

A. Hüttenhofer, N. Tommerup, H. Ropers, 2001, Human molecular genetics.

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

D. Wieczorek, D. Lohmann, J. Beygo, 2012, Molecular Syndromology.

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

W. Doerfler, B. Horsthemke, K. Buiting, 1997, European journal of human genetics : EJHG.

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

B. Horsthemke, G. Gillessen‐kaesbach, H. Thiele, 1999, European Journal of Human Genetics.

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

B. Horsthemke, G. Gillessen‐kaesbach, L. Maldergem, 2001, European Journal of Human Genetics.

Problems in detecting mosaic DNA methylation in Angelman syndrome

B. Janssen, B. Dworniczak, B. Horsthemke, 2003, European Journal of Human Genetics.

Methylation Analysis of Several Tumour Suppressor Genes Shows a Low Frequency of Methylation of CDKN2A and RARB in Uveal Melanomas

B. Horsthemke, D. Lohmann, M. Zeschnigk, 2003, Comparative and functional genomics.