Kreuz FR - Search Results

1

Del(2q)--cause of the wrinkly skin syndrome?

Kreuz FR, Wittwer BH. Kreuz FR, et al. Clin Genet. 1993 Mar;43(3):132-8. doi: 10.1111/j.1399-0004.1993.tb04437.x. Clin Genet. 1993. PMID: 8500259 Review.

2

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: kreuz fr. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271

3

Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity.

Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G. Gispert S, et al. Am J Hum Genet. 1995 Jan;56(1):183-7. Am J Hum Genet. 1995. PMID: 7825576 Free PMC article.

4

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.

Dalski A, Atici J, Kreuz FR, Hellenbroich Y, Schwinger E, Zühlke C. Dalski A, et al. Among authors: kreuz fr. Eur J Hum Genet. 2005 Jan;13(1):118-20. doi: 10.1038/sj.ejhg.5201286. Eur J Hum Genet. 2005. PMID: 15470364

5

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.

Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. Eur J Hum Genet. 2010 Aug;18(8):965-8. doi: 10.1038/ejhg.2010.40. Epub 2010 Mar 31. Eur J Hum Genet. 2010. PMID: 20354562 Free PMC article.

6

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.

Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balikó L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Metzger S, et al. Hum Genet. 2006 Sep;120(2):285-92. doi: 10.1007/s00439-006-0221-2. Epub 2006 Jul 18. Hum Genet. 2006. PMID: 16847693

7

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro JR, Russo C, Uyama E, Vierimaa O, Spritz RA. Karim MA, et al. Am J Med Genet. 2002 Feb 15;108(1):16-22. Am J Med Genet. 2002. PMID: 11857544

8

One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).

Heiss NS, Mégarbané A, Klauck SM, Kreuz FR, Makhoul E, Majewski F, Poustka A. Heiss NS, et al. Among authors: kreuz fr. Genet Couns. 2001;12(2):129-36. Genet Couns. 2001. PMID: 11491307

9

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T. Beetz C, et al. Neurology. 2006 Dec 12;67(11):1926-30. doi: 10.1212/01.wnl.0000244413.49258.f5. Epub 2006 Oct 11. Neurology. 2006. PMID: 17035675

10

Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families.

Zühlke C, Gehlken U, Purmann S, Kunisch M, Müller-Myhsok B, Kreuz F, Laccone F. Zühlke C, et al. Hum Hered. 1999 Mar;49(2):90-6. doi: 10.1159/000022851. Hum Hered. 1999. PMID: 10077729

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