Publications by authors named "Wiktor Borozdin"

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Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.
Zofia Esden-Tempska, Anna Lewczuk, Edward S Tobias, Wiktor Borozdin, Juergen Kohlhase

J Pediatr Endocrinol Metab· May 2012

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Georgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg, A Micheil Innes, Kerstin Engel, Wiktor Borozdin

Arthritis Rheum· May 2010

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Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.
Johannes Carolus Magnus Schlachetzki, Klaus Schmidtke, Jan Beckervordersandforth, Wiktor Borozdin, Christian Wilhelm

J Neurol· December 2009

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Sall1, sall2, and sall4 are required for neural tube closure in mice.
Johann Böhm, Anja Buck, Wiktor Borozdin, Ashraf U Mannan, Uta Matysiak-Scholze

Am J Pathol· November 2008

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Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.
Sérgio B Sousa, Raquel Pina, Lina Ramos, Naigel Pereira, Martin Krahn, Wiktor Borozdin

Am J Med Genet A· November 2008

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Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.
Bettina Blaumeiser, Barbara Oehl-Jaschkowitz, Wiktor Borozdin, Jürgen Kohlhase

Am J Med Genet A· September 2008

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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Sheila Unger, Detlef Böhm, Frank J Kaiser, Silke Kaulfuss, Wiktor Borozdin

Nat Genet· March 2008

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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
Pia Vuorela, Sirpa Ala-Mello, Carola Saloranta, Maila Penttinen, Minna Pöyhönen, Wiktor Borozdin

Genet Med· October 2007

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Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
Wiktor Borozdin, John M Graham, Detlef Böhm, Michael J Bamshad, Stefanie Spranger

Hum Mutat· August 2007

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Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
Birke Bausch, Wiktor Borozdin, Victor F Mautner, Michael M Hoffmann, Detlef Boehm

J Clin Endocrinol Metab· July 2007

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Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression.
Johann Böhm, Frank J Kaiser, Wiktor Borozdin, Reinhard Depping, Jürgen Kohlhase

Biochem Biophys Res Commun· May 2007

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Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Wiktor Borozdin, Ana M Bravo-Ferrer Acosta, Eva Seemanova, Michael Leipoldt, Michael J Bamshad

Am J Med Genet A· September 2006

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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.
Wiktor Borozdin, Ana M Bravo Ferrer Acosta, Michael J Bamshad, Elke M Botzenhart, Ursula G Froster

Hum Mutat· September 2006

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Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma.
Birke Bausch, Wiktor Borozdin, Hartmut P H Neumann,

N Engl J Med· June 2006

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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.
Jan Miertus, Wiktor Borozdin, Vladimir Frecer, Giorgio Tonini, Sara Bertok

Hum Genet· March 2006

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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.
Wiktor Borozdin, Katharina Steinmann, Beate Albrecht, Armand Bottani, Koenraad Devriendt

Hum Mutat· February 2006

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