Horn D - Search Results

1

Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?

Horn D, Müller D, Thiele H, Kunze J. Horn D, et al. Clin Dysmorphol. 1997 Oct;6(4):323-8. doi: 10.1097/00019605-199710000-00004. Clin Dysmorphol. 1997. PMID: 9354840

2

Two isolated cases with symmetrically absent hands and feet.

Horn D, Kolb GP. Horn D, et al. Clin Dysmorphol. 1994 Jul;3(3):228-33. Clin Dysmorphol. 1994. PMID: 7981858

3

Oto-palato-digital syndrome with features of type I and II in brothers.

Horn D, Nitz I, Bollmann R. Horn D, et al. Genet Couns. 1995;6(3):233-40. Genet Couns. 1995. PMID: 8588852

4

Ellis-van Creveld syndrome: examination at 15 weeks' gestation.

Guschmann M, Horn D, Gasiorek-Wiens A, Urban M, Kunze J, Vogel M. Guschmann M, et al. Among authors: horn d. Prenat Diagn. 1999 Sep;19(9):879-83. Prenat Diagn. 1999. PMID: 10521851

5

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

6

Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings.

Guschmann M, Horn D, Entezami M, Urban M, Hänel S, Kunze J, Vogel M. Guschmann M, et al. Among authors: horn d. Prenat Diagn. 2001 May;21(5):378-82. doi: 10.1002/pd.70. Prenat Diagn. 2001. PMID: 11360278

7

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.

Horn D, Rupprecht E, Kunze J, Spranger J. Horn D, et al. J Med Genet. 2001 Apr;38(4):262-5. doi: 10.1136/jmg.38.4.262. J Med Genet. 2001. PMID: 11370632 Free PMC article. No abstract available.

8

Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis.

Horn D, Delaunoy JP, Kunze J. Horn D, et al. Prenat Diagn. 2001 Oct;21(10):881-4. Prenat Diagn. 2001. PMID: 11746134

9

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

10

Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis.

Becker R, Kunze J, Horn D, Gasiorek-Wiens A, Entezami M, Rossi R, Guschmann M, Sarioglu N. Becker R, et al. Among authors: horn d. Ultrasound Obstet Gynecol. 2002 Nov;20(5):506-10. doi: 10.1046/j.1469-0705.2002.00839.x. Ultrasound Obstet Gynecol. 2002. PMID: 12423491 Free article.

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