Horn D - Search Results

1

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Busche A, Graul-Neumann LM, Zweier C, Rauch A, Klopocki E, Horn D. Busche A, et al. Among authors: horn d. Eur J Med Genet. 2011 May-Jun;54(3):256-61. doi: 10.1016/j.ejmg.2011.02.002. Epub 2011 Feb 17. Eur J Med Genet. 2011. PMID: 21333765

2

Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.

Horn D, Majewski F, Hildebrandt B, Körner H. Horn D, et al. J Med Genet. 1995 Jan;32(1):68-71. doi: 10.1136/jmg.32.1.68. J Med Genet. 1995. PMID: 7897632 Free PMC article.

3

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.

Schulze BR, Horn D, Kobelt A, Tariverdian G, Stellzig A. Schulze BR, et al. Among authors: horn d. Am J Med Genet. 1999 Feb 19;82(5):429-35. doi: 10.1002/(sici)1096-8628(19990219)82:5<429::aid-ajmg13>3.0.co;2-s. Am J Med Genet. 1999. PMID: 10069716 Review.

4

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.

Horn D, Krebsová A, Kunze J, Reis A. Horn D, et al. Am J Med Genet. 2000 Jun 5;92(4):285-92. Am J Med Genet. 2000. PMID: 10842298

5

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Wieczorek D, et al. Among authors: horn d. Eur J Hum Genet. 2000 Jul;8(7):519-26. doi: 10.1038/sj.ejhg.5200498. Eur J Hum Genet. 2000. PMID: 10909852

6

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

Bürger J, Horn D, Tönnies H, Neitzel H, Reis A. Bürger J, et al. Among authors: horn d. Am J Med Genet. 2002 Aug 15;111(3):233-7. doi: 10.1002/ajmg.10498. Am J Med Genet. 2002. PMID: 12210318

7

Pigmentary mosaicism of the hyperpigmented type in two half-brothers.

Horn D, Happle R, Neitzel H, Kunze J. Horn D, et al. Am J Med Genet. 2002 Sep 15;112(1):65-9. doi: 10.1002/ajmg.10600. Am J Med Genet. 2002. PMID: 12239723

8

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O. Horn D, et al. Am J Med Genet A. 2003 Mar 15;117A(3):236-44. doi: 10.1002/ajmg.a.10017. Am J Med Genet A. 2003. PMID: 12599186 Review.

9

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.

Horn D, Weschke B, Zweier C, Rauch A. Horn D, et al. Am J Med Genet A. 2004 Jan 1;124A(1):102-4. doi: 10.1002/ajmg.a.20298. Am J Med Genet A. 2004. PMID: 14679597 No abstract available.

10

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D. Hennies HC, et al. Among authors: horn d. Am J Hum Genet. 2004 Jul;75(1):138-45. doi: 10.1086/422219. Epub 2004 May 20. Am J Hum Genet. 2004. PMID: 15154116 Free PMC article.

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