Kunze J - Search Results

1

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Among authors: kunze j. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271

2

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: kunze j. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364

3

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

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

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. Among authors: kunze j. Am J Med Genet. 2000 Jun 5;92(4):285-92. Am J Med Genet. 2000. PMID: 10842298

5

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

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

6

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. Among authors: kunze j. 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.

7

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH. Kalff-Suske M, et al. Among authors: kunze j. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769. Hum Mol Genet. 1999. PMID: 10441342

8

A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family--remarks on the mode of inheritance: report on two sibs.

Neumann L, Pelz J, Kunze J. Neumann L, et al. Among authors: kunze j. Am J Med Genet. 1996 Sep 6;64(4):556-62. doi: 10.1002/(SICI)1096-8628(19960906)64:4<556::AID-AJMG6>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8870922

9

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. Among authors: kunze j. Clin Dysmorphol. 1997 Oct;6(4):323-8. doi: 10.1097/00019605-199710000-00004. Clin Dysmorphol. 1997. PMID: 9354840

10

Unilateral terminal aphalangia in father and daughter--exogenous or genetic cause?

Neumann L, Pelz J, Kunze J. Neumann L, et al. Among authors: kunze j. Am J Med Genet. 1998 Jul 24;78(4):366-70. doi: 10.1002/(sici)1096-8628(19980724)78:4<366::aid-ajmg12>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9714441 Review.

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