Bolz H - Search Results

1

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome.

Tröger B, Kutsche K, Bolz H, Lüttgen S, Gal A, Almassy Z, Caliebe A, Freisinger P, Hobbiebrunken E, Morlot M, Stefanova M, Streubel B, Wieczorek D, Meinecke P. Tröger B, et al. Among authors: bolz h. Am J Med Genet A. 2003 Aug 15;121A(1):82-4. doi: 10.1002/ajmg.a.20122. Am J Med Genet A. 2003. PMID: 12900909 No abstract available.

2

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Stefanova M, Meinecke P, Gal A, Bolz H. Stefanova M, et al. Among authors: bolz h. Am J Med Genet A. 2005 Feb 1;132A(4):386-90. doi: 10.1002/ajmg.a.30484. Am J Med Genet A. 2005. PMID: 15654694

3

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K. Horn D, et al. Among authors: bolz h. Eur J Hum Genet. 2005 May;13(5):563-9. doi: 10.1038/sj.ejhg.5201391. Eur J Hum Genet. 2005. PMID: 15770227

4

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C. Bolz H, et al. Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667. Nat Genet. 2001. PMID: 11138009

5

Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.

Bolz H, Ebermann I, Gal A. Bolz H, et al. Mol Vis. 2005 Nov 3;11:929-33. Mol Vis. 2005. PMID: 16288196 Free article.

6

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A. von Brederlow B, et al. Among authors: bolz h. Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049. Hum Mutat. 2002. PMID: 11857743

7

Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration.

Bolz H, Reiners J, Wolfrum U, Gal A. Bolz H, et al. Adv Exp Med Biol. 2002;514:399-410. doi: 10.1007/978-1-4615-0121-3_24. Adv Exp Med Biol. 2002. PMID: 12596935 Review. No abstract available.

8

Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.

Willers I, Bolz H, Wehnert M, Gal A. Willers I, et al. Among authors: bolz h. J Inherit Metab Dis. 1999 Oct;22(7):845-6. doi: 10.1023/a:1005522527689. J Inherit Metab Dis. 1999. PMID: 10518289 No abstract available.

9

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

Bolz H, Schade G, Ehmer S, Kothe C, Hess M, Gal A. Bolz H, et al. Hear Res. 2004 Feb;188(1-2):42-6. doi: 10.1016/S0378-5955(03)00346-0. Hear Res. 2004. PMID: 14759569

10

Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).

Bolz H, Bolz SS, Schade G, Kothe C, Mohrmann G, Hess M, Gal A. Bolz H, et al. Among authors: bolz ss. Hum Mutat. 2004 Sep;24(3):274-5. doi: 10.1002/humu.9272. Hum Mutat. 2004. PMID: 15300860

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