Heinritz W - Search Results

1

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

Seifert W, Meinecke P, Krüger G, Rossier E, Heinritz W, Wüsthof A, Horn D. Seifert W, et al. Among authors: heinritz w. BMC Med Genet. 2014 Nov 30;15:127. doi: 10.1186/s12881-014-0127-0. BMC Med Genet. 2014. PMID: 25433523 Free PMC article.

2

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P. Horn D, et al. Among authors: heinritz w. Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129430 Free PMC article.

3

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Böhm J, Heinritz W, Craig A, Vujic M, Ekman-Joelsson BM, Kohlhase J, Froster U. Böhm J, et al. Among authors: heinritz w. BMC Med Genet. 2008 Oct 1;9:88. doi: 10.1186/1471-2350-9-88. BMC Med Genet. 2008. PMID: 18828908 Free PMC article.

4

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB. Di Donato N, et al. Among authors: heinritz w. Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240540

5

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V. Heinritz W, et al. Am J Med Genet A. 2006 Jun 1;140(11):1223-7. doi: 10.1002/ajmg.a.31267. Am J Med Genet A. 2006. PMID: 16688751

6

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. Mitter D, et al. Among authors: heinritz w. Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. Genet Med. 2018. PMID: 28661489 Free article.

7

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG. Heinritz W, et al. Ann Hum Genet. 2009 May;73(Pt 3):283-91. doi: 10.1111/j.1469-1809.2009.00508.x. Epub 2009 Mar 25. Ann Hum Genet. 2009. PMID: 19344451

8

[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family].

Heinritz W, Pretzsch M, Koall S, Matzen PF, Froster UG. Heinritz W, et al. Orthopade. 2005 May;34(5):470-6. doi: 10.1007/s00132-005-0774-0. Orthopade. 2005. PMID: 15739063 German.

9

[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].

Froster UG, Glander HJ, Heinritz W. Froster UG, et al. Among authors: heinritz w. Hautarzt. 2003 Dec;54(12):1190-2. doi: 10.1007/s00105-003-0640-0. Hautarzt. 2003. PMID: 14634749 German.

10

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

Gruenauer-Kloevekorn C, Braeutigam S, Heinritz W, Froster UG, Duncker GI. Gruenauer-Kloevekorn C, et al. Among authors: heinritz w. Graefes Arch Clin Exp Ophthalmol. 2008 Oct;246(10):1441-7. doi: 10.1007/s00417-008-0836-1. Epub 2008 May 24. Graefes Arch Clin Exp Ophthalmol. 2008. PMID: 18500531

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