Gillessen-Kaesbach G - Search Results

1

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.

Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD. Saitoh S, et al. Am J Med Genet. 1997 Jan 20;68(2):195-206. Am J Med Genet. 1997. PMID: 9028458

2

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

Gillessen-Kaesbach G, Horsthemke B. Gillessen-Kaesbach G, et al. J Med Genet. 1994 Mar;31(3):260-1. doi: 10.1136/jmg.31.3.260-b. J Med Genet. 1994. PMID: 8014984 Free PMC article. No abstract available.

3

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

Horsthemke B, Maat-Kievit A, Sleegers E, van den Ouweland A, Buiting K, Lich C, Mollevanger P, Beverstock G, Gillessen-Kaesbach G, Schwanitz G. Horsthemke B, et al. J Med Genet. 1996 Oct;33(10):848-51. doi: 10.1136/jmg.33.10.848. J Med Genet. 1996. PMID: 8933339 Free PMC article.

4

Clinical utility gene card for: Prader-Willi Syndrome.

Buiting K, Cassidy SB, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Tauber M, Schwinger E, Horsthemke B. Buiting K, et al. Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.66. Epub 2014 Apr 16. Eur J Hum Genet. 2014. PMID: 24736734 Free PMC article. No abstract available.

5

Clinical utility gene card for: Angelman Syndrome.

Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B. Buiting K, et al. Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4. Eur J Hum Genet. 2015. PMID: 24896151 Free PMC article. No abstract available.

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. 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

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B. Dittrich B, et al. Hum Genet. 1992 Nov;90(3):313-5. doi: 10.1007/BF00220089. Hum Genet. 1992. PMID: 1487250

8

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B. Gillessen-Kaesbach G, et al. J Med Genet. 1995 Feb;32(2):88-92. doi: 10.1136/jmg.32.2.88. J Med Genet. 1995. PMID: 7760327 Free PMC article.

9

Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype.

Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B. Gillessen-Kaesbach G, et al. Am J Med Genet. 1995 Apr 10;56(3):328-9. doi: 10.1002/ajmg.1320560324. Am J Med Genet. 1995. PMID: 7778602 No abstract available.

10

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B. Reis A, et al. Am J Hum Genet. 1994 May;54(5):741-7. Am J Hum Genet. 1994. PMID: 8178815 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

244 results

Search Page

Filters