Bolz HJ - Search Results

1

Expanding the phenotypic spectrum and clinical severity associated with WLS gene.

Abdel-Salam GMH, Afifi HH, Abdel-Hamid MS, Ahmed NEB, Taher MB, El-Kamah G, Thiele H, Nürnberg PN, Bolz HJ. Abdel-Salam GMH, et al. Among authors: bolz hj. J Hum Genet. 2023 Sep;68(9):607-613. doi: 10.1038/s10038-023-01152-2. Epub 2023 Apr 28. J Hum Genet. 2023. PMID: 37106064

2

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. 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.

3

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.

Striessnig J, Bolz HJ, Koschak A. Striessnig J, et al. Among authors: bolz hj. Pflugers Arch. 2010 Jul;460(2):361-74. doi: 10.1007/s00424-010-0800-x. Epub 2010 Mar 7. Pflugers Arch. 2010. PMID: 20213496 Free PMC article. Review.

4

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A. Boulouiz R, et al. Mol Vis. 2007 Oct 2;13:1862-5. Mol Vis. 2007. PMID: 17960123

5

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.

6

A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.

Hinkes B, Hilgers KF, Bolz HJ, Goppelt-Struebe M, Amann K, Nagl S, Bergmann C, Rascher W, Eckardt KU, Jacobi J. Hinkes B, et al. Among authors: bolz hj. BMC Nephrol. 2012 May 14;13:27. doi: 10.1186/1471-2369-13-27. BMC Nephrol. 2012. PMID: 22583611 Free PMC article.

7

The RPGRIP1-related retinal phenotype in children.

Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. Khan AO, et al. Among authors: bolz hj. Br J Ophthalmol. 2013 Jun;97(6):760-4. doi: 10.1136/bjophthalmol-2012-303050. Epub 2013 Mar 16. Br J Ophthalmol. 2013. PMID: 23505306

8

Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").

Khan AO, Nagl S, Bergmann C, Bolz HJ. Khan AO, et al. Among authors: bolz hj. J Pediatr Ophthalmol Strabismus. 2014 Jul 16;51 Online:e51-4. doi: 10.3928/01913913-20140709-04. J Pediatr Ophthalmol Strabismus. 2014. PMID: 25032695

9

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.

Khan AO, Bifari IN, Bolz HJ. Khan AO, et al. Among authors: bolz hj. Ophthalmology. 2015 Aug;122(8):1726-7.e2. doi: 10.1016/j.ophtha.2015.03.001. Epub 2015 Apr 10. Ophthalmology. 2015. PMID: 25864795 No abstract available.

10

An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Eisenberger T, Decker C, Hiersche M, Hamann RC, Decker E, Neuber S, Frank V, Bolz HJ, Fehrenbach H, Pape L, Toenshoff B, Mache C, Latta K, Bergmann C. Eisenberger T, et al. Among authors: bolz hj. PLoS One. 2015 Feb 3;10(2):e0116680. doi: 10.1371/journal.pone.0116680. eCollection 2015. PLoS One. 2015. PMID: 25646624 Free PMC article.

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