Grzeschik KH - Search Results

1

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S. Lehmann K, et al. Among authors: grzeschik kh. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. doi: 10.1073/pnas.2133476100. Epub 2003 Oct 1. Proc Natl Acad Sci U S A. 2003. PMID: 14523231 Free PMC article.

2

A large duplication involving the IHH locus mimics acrocallosal syndrome.

Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. Yuksel-Apak M, et al. Among authors: grzeschik kh. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234151 Free PMC article.

3

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3.

Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik KH. Malik S, et al. Among authors: grzeschik kh. Am J Med Genet A. 2005 May 1;134(4):404-8. doi: 10.1002/ajmg.a.30656. Am J Med Genet A. 2005. PMID: 15779011

4

A member of the mouse LRR transcript family with homology to the human Sp100 gene.

Plass C, Weichenhan D, Kunze B, Hellwig T, Schneider C, Bautz FA, Grzeschik KH, Traut W, Winking H. Plass C, et al. Among authors: grzeschik kh. Hereditas. 1995;122(3):245-56. doi: 10.1111/j.1601-5223.1995.00245.x. Hereditas. 1995. PMID: 8537240 Free article.

5

Cloning of a cDNA encoding the human cation-dependent mannose 6-phosphate-specific receptor.

Pohlmann R, Nagel G, Schmidt B, Stein M, Lorkowski G, Krentler C, Cully J, Meyer HE, Grzeschik KH, Mersmann G, et al. Pohlmann R, et al. Among authors: grzeschik kh. Proc Natl Acad Sci U S A. 1987 Aug;84(16):5575-9. doi: 10.1073/pnas.84.16.5575. Proc Natl Acad Sci U S A. 1987. PMID: 2441386 Free PMC article.

6

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH. Malik S, et al. Among authors: grzeschik kh. Am J Med Genet A. 2004 Apr 1;126A(1):61-7. doi: 10.1002/ajmg.a.20555. Am J Med Genet A. 2004. PMID: 15039974

7

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.

Malik S, Schott J, Ali SW, Oeffner F, Amin-ud-Din M, Ahmad W, Grzeschik KH, Koch MC. Malik S, et al. Among authors: grzeschik kh. Eur J Hum Genet. 2005 Dec;13(12):1268-74. doi: 10.1038/sj.ejhg.5201492. Eur J Hum Genet. 2005. PMID: 16189548

8

Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family.

Malik S, Grzeschik KH. Malik S, et al. Among authors: grzeschik kh. Hum Genet. 2008 Mar;123(2):197-205. doi: 10.1007/s00439-007-0458-4. Epub 2008 Jan 10. Hum Genet. 2008. PMID: 18193458

9

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

Duba HC, Doll A, Neyer M, Erdel M, Mann C, Hammerer I, Utermann G, Grzeschik KH. Duba HC, et al. Among authors: grzeschik kh. Eur J Hum Genet. 2002 Jun;10(6):351-61. doi: 10.1038/sj.ejhg.5200812. Eur J Hum Genet. 2002. PMID: 12080386

10

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. Bornholdt D, et al. Among authors: grzeschik kh. Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Hum Mutat. 2009. PMID: 19309688

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