Gillessen-Kaesbach G - Search Results

1

The adult phenotype of Schaaf-Yang syndrome.

Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. Among authors: gillessen kaesbach g. Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8. Orphanet J Rare Dis. 2020. PMID: 33076953 Free PMC article.

2

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Beygo J, Mertel C, Kaya S, Gillessen-Kaesbach G, Eggermann T, Horsthemke B, Buiting K. Beygo J, et al. Epigenetics. 2018;13(8):822-828. doi: 10.1080/15592294.2018.1514233. Epub 2018 Sep 19. Epigenetics. 2018. PMID: 30227764 Free PMC article.

3

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B. Gillessen-Kaesbach G, et al. Hum Genet. 1995 Dec;96(6):638-43. doi: 10.1007/BF00210291. Hum Genet. 1995. PMID: 8522319

4

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.

5

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G. Mitter D, et al. Am J Med Genet A. 2006 Oct 1;140(19):2039-49. doi: 10.1002/ajmg.a.31414. Am J Med Genet A. 2006. PMID: 16906536

6

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.

7

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.

8

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

9

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.

10

Molecular and clinical studies in 8 patients with Temple syndrome.

Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J. Gillessen-Kaesbach G, et al. Clin Genet. 2018 Jun;93(6):1179-1188. doi: 10.1111/cge.13244. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29468661

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