Grzeschik KH - Search Results

1

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

Hellenbroich Y, Grzeschik KH, Krapp M, Jarutat T, Lehrmann-Petersen C, Buiting K, Gillessen-Kaesbach G. Hellenbroich Y, et al. Among authors: grzeschik kh. Eur J Med Genet. 2007 Sep-Oct;50(5):392-8. doi: 10.1016/j.ejmg.2007.05.004. Epub 2007 Jun 3. Eur J Med Genet. 2007. PMID: 17625999

2

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

3

Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.

Kolb-Mäurer A, Grzeschik KH, Haas D, Bröcker EB, Hamm H. Kolb-Mäurer A, et al. Among authors: grzeschik kh. Acta Derm Venereol. 2008;88(1):47-51. doi: 10.2340/00015555-0337. Acta Derm Venereol. 2008. PMID: 18176751 Free article.

4

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

5

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

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

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

8

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.

Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Haque S, Ahmad W, Koch MC, Grzeschik KH. Malik S, et al. Among authors: grzeschik kh. BMC Med Genet. 2007 Dec 11;8:78. doi: 10.1186/1471-2350-8-78. BMC Med Genet. 2007. PMID: 18072967 Free PMC article.

9

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH. Oeffner F, et al. Among authors: grzeschik kh. Am J Hum Genet. 2009 Apr;84(4):459-67. doi: 10.1016/j.ajhg.2009.03.014. Am J Hum Genet. 2009. PMID: 19361614 Free PMC article.

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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