Lich C[au] - Search Results

Year	Number of Results
1996	1
1997	2
1998	1
1999	3
2000	1
2001	4
2003	4
2008	1
2010	1
2011	1
2012	1
2023	0

1

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

Beygo J, Buiting K, Seland S, Lüdecke HJ, Hehr U, Lich C, Prager B, Lohmann DR, Wieczorek D. Beygo J, et al. Among authors: lich c. Mol Syndromol. 2012 Jan;2(2):53-59. doi: 10.1159/000335545. Epub 2012 Jan 26. Mol Syndromol. 2012. PMID: 22712005 Free PMC article.

2

Parental origin and functional relevance of a de novo UBE3A variant.

Horsthemke B, Wawrzik M, Gross S, Lich C, Sauer B, Rost I, Krasemann E, Kosyakova N, Liehr T, Weise A, Dybowski JN, Hoffmann D, Wieczorek D. Horsthemke B, et al. Among authors: lich c. Eur J Med Genet. 2011 Jan-Feb;54(1):19-24. doi: 10.1016/j.ejmg.2010.09.005. Epub 2010 Oct 8. Eur J Med Genet. 2011. PMID: 20933619

3

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

Buiting K, Barnicoat A, Lich C, Pembrey M, Malcolm S, Horsthemke B. Buiting K, et al. Among authors: lich c. Am J Hum Genet. 2001 May;68(5):1290-4. doi: 10.1086/320120. Epub 2001 Mar 23. Am J Hum Genet. 2001. PMID: 11283796 Free PMC article.

4

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

Buiting K, Färber C, Kroisel P, Wagner K, Brueton L, Robertson ME, Lich C, Horsthemke B. Buiting K, et al. Among authors: lich c. Clin Genet. 2000 Oct;58(4):284-90. doi: 10.1034/j.1399-0004.2000.580406.x. Clin Genet. 2000. PMID: 11076053

5

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

El-Maarri O, Buiting K, Peery EG, Kroisel PM, Balaban B, Wagner K, Urman B, Heyd J, Lich C, Brannan CI, Walter J, Horsthemke B. El-Maarri O, et al. Among authors: lich c. Nat Genet. 2001 Mar;27(3):341-4. doi: 10.1038/85927. Nat Genet. 2001. PMID: 11242121

6

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

Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B. Buiting K, et al. Among authors: lich c. Am J Hum Genet. 2003 Mar;72(3):571-7. doi: 10.1086/367926. Epub 2003 Jan 23. Am J Hum Genet. 2003. PMID: 12545427 Free PMC article.

7

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

Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K. Runte M, et al. Among authors: lich c. Eur J Hum Genet. 2001 Jul;9(7):519-26. doi: 10.1038/sj.ejhg.5200661. Eur J Hum Genet. 2001. PMID: 11464243

8

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

Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B. Zeschnigk M, et al. Among authors: lich c. Eur J Hum Genet. 1997 Mar-Apr;5(2):94-8. Eur J Hum Genet. 1997. PMID: 9195159

9

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

Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. Buiting K, et al. Among authors: lich c. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.

10

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

Buiting K, Lich C, Cottrell S, Barnicoat A, Horsthemke B. Buiting K, et al. Among authors: lich c. Hum Genet. 1999 Dec;105(6):665-6. doi: 10.1007/s004399900196. Hum Genet. 1999. PMID: 10647904

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