Borozdin W - Search Results

1

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J. Vuorela P, et al. Among authors: borozdin w. Genet Med. 2007 Oct;9(10):690-4. doi: 10.1097/gim.0b013e318156e68e. Genet Med. 2007. PMID: 18073582 Free article.

2

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J. Pauli S, et al. Among authors: borozdin w. Clin Genet. 2012 Mar;81(3):234-9. doi: 10.1111/j.1399-0004.2011.01701.x. Epub 2011 May 27. Clin Genet. 2012. PMID: 21554267

3

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.

Blaumeiser B, Oehl-Jaschkowitz B, Borozdin W, Kohlhase J. Blaumeiser B, et al. Among authors: borozdin w. Am J Med Genet A. 2008 Sep 1;146A(17):2304-7. doi: 10.1002/ajmg.a.32444. Am J Med Genet A. 2008. PMID: 18671284 No abstract available.

4

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J. Borozdin W, et al. Hum Mutat. 2006 Sep;27(9):975-6. doi: 10.1002/humu.9449. Hum Mutat. 2006. PMID: 16917909

5

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.

Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, Kohlhase J. Borozdin W, et al. Hum Mutat. 2006 Feb;27(2):211-2. doi: 10.1002/humu.9396. Hum Mutat. 2006. PMID: 16429401

6

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.

Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Lévy N, Carreira IM, Couceiro AB, Saraiva JM. Sousa SB, et al. Among authors: borozdin w. Am J Med Genet A. 2008 Nov 1;146A(21):2799-803. doi: 10.1002/ajmg.a.32489. Am J Med Genet A. 2008. PMID: 18837045 Free article. Review.

7

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J. Miertus J, et al. Among authors: borozdin w. Hum Genet. 2006 Mar;119(1-2):154-61. doi: 10.1007/s00439-005-0124-7. Epub 2006 Jan 3. Hum Genet. 2006. PMID: 16402211

8

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.

Unger S, Böhm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Böhm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. Unger S, et al. Among authors: borozdin w. Nat Genet. 2008 Mar;40(3):287-9. doi: 10.1038/ng.86. Epub 2008 Feb 24. Nat Genet. 2008. PMID: 18297069

9

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.

Borozdin W, Bravo-Ferrer Acosta AM, Seemanova E, Leipoldt M, Bamshad MJ, Unger S, Kohlhase J. Borozdin W, et al. Am J Med Genet A. 2006 Sep 1;140A(17):1880-6. doi: 10.1002/ajmg.a.31340. Am J Med Genet A. 2006. PMID: 16892408 No abstract available.

10

Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.

Schlachetzki JC, Schmidtke K, Beckervordersandforth J, Borozdin W, Wilhelm C, Hüll M, Kohlhase J. Schlachetzki JC, et al. Among authors: borozdin w. J Neurol. 2009 Dec;256(12):2043-51. doi: 10.1007/s00415-009-5248-6. Epub 2009 Jul 19. J Neurol. 2009. PMID: 19618231

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