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Wiktor Borozdin

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S Pauli; M Steckel; N von Velsen; J Mänz; Wiktor Borozdin; A Buchholz; Peter Burfeind; Juergen Kohlhase
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
Zofia Esden-Tempska; Juergen Kohlhase; Anna Lewczuk; Wiktor Borozdin; Edward S Tobias; Krzysztof Sworczak
Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.
Johanna Stoevesandt; A Volz; B Wiewrodt; Wiktor Borozdin; G Girschick; Henning Hamm; B Höcht; Juergen Kohlhase; Johannes Wirbelauer
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.

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All Publications

2012: S Pauli; M Steckel; N von Velsen; J Mänz; Wiktor Borozdin; A Buchholz; Peter Burfeind; Juergen Kohlhase
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
Clinical genetics 2012;81(3):234-9.
2012: Zofia Esden-Tempska; Juergen Kohlhase; Anna Lewczuk; Wiktor Borozdin; Edward S Tobias; Krzysztof Sworczak
Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.
Journal of pediatric endocrinology & metabolism : JPEM 2012;25(1-2):147-8.
2012: Johanna Stoevesandt; A Volz; B Wiewrodt; Wiktor Borozdin; G Girschick; Henning Hamm; B Höcht; Juergen Kohlhase; Johannes Wirbelauer
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.
Klinische Pädiatrie 2012;224(1):8-11.
2010: Georgia Ramantani; Jürgen Kohlhase; Christoph Hertzberg; A Micheil Innes; Kerstin Engel; Susan Hunger; Wiktor Borozdin; Jean K Mah; Kristina Ungerath; Hartmut Walkenhorst; Hans-Helmut Richardt; Johannes Buckard; Andrea Bevot; Corinna Siegel; Celina von Stülpnagel; Chrysanthy Ikonomidou; Kara Thomas; Virginia Proud; Frank Niemann; Dagmar Wieczorek; Martin Häusler; Pascal Niggemann; Volkan Baltaci; Karsten Conrad; Pierre Lebon; Min Ae Lee-Kirsch
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Arthritis and rheumatism 2010;62(5):1469-77.
2009: Johannes Carolus Magnus Schlachetzki; Klaus Schmidtke; Jan Beckervordersandforth; Wiktor Borozdin; Christian Wilhelm; Michael Hüll; Juergen Kohlhase
Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.
Journal of neurology 2009;256(12):2043-51.
2008: Sérgio B Sousa; Raquel Pina; Lina Ramos; Naigel Pereira; Martin Krahn; Wiktor Borozdin; Juergen Kohlhase; Marta Amorim; Katia Gonnet; Nicolas Lévy; Isabel M Carreira; Ana Bela Couceiro; Jorge M Saraiva
Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.
American journal of medical genetics. Part A 2008;146A(21):2799-803.
2008: Johann Böhm; Anja Buck; Wiktor Borozdin; Ashraf U Mannan; Uta Matysiak-Scholze; Ibrahim Adham; Walter Schulz-Schaeffer; Thomas Floss; Wolfgang Wurst; Juergen Kohlhase; Francisco Barrionuevo
Sall1, sall2, and sall4 are required for neural tube closure in mice.
The American journal of pathology 2008;173(5):1455-63.
2008: Bettina Blaumeiser; Barbara Oehl-Jaschkowitz; Wiktor Borozdin; Juergen Kohlhase
Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.
American journal of medical genetics. Part A 2008;146A(17):2304-7.
2008: Sheila Unger; Detlef Böhm; Frank J Kaiser; Silke Kaulfuss; Wiktor Borozdin; Karin Buiting; Peter Burfeind; Johann Böhm; Francisco Barrionuevo; Alexander Craig; Kristi Borowski; Kim Keppler-Noreuil; Thomas Schmitt-Mechelke; Bernhard Steiner; Deborah Bartholdi; Johannes Lemke; Geert R Mortier; Richard Sandford; Bernhard Zabel; andrea superti-furga; Juergen Kohlhase
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Nature genetics 2008;40(3):287-9.
2007: Pia Vuorela; Sirpa Ala-Mello; Carola Saloranta; Maila Penttinen; Minna Pöyhönen; Kirsi Huoponen; Wiktor Borozdin; Birke Bausch; Elke M Botzenhart; Christian Wilhelm; Helena Kääriäinen; Juergen Kohlhase
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(10):690-4.
2007: Wiktor Borozdin; John M Graham; Detlef Böhm; Michael Bamshad; Stephanie Spranger; Leah Burke; Michael Leipoldt; Juergen Kohlhase
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.
Human mutation 2007;28(8):830.
2007: Johann Böhm; Frank J Kaiser; Wiktor Borozdin; Reinhard Depping; Juergen Kohlhase
Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression.
Biochemical and biophysical research communications 2007;356(3):773-9.
2006: Wiktor Borozdin; Ana M Bravo Ferrer Acosta; Michael Bamshad; Elke M Botzenhart; Ursula G Froster; Johannes Lemke; Albert Schinzel; Stephanie Spranger; Julie McGaughran; Dorothea Wand; Krystyna H Chrzanowska; Juergen Kohlhase
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.
Human mutation 2006;27(9):975-6.
2006: Wiktor Borozdin; Ana M Bravo-Ferrer Acosta; Eva Seemanova; Michael Leipoldt; Michael Bamshad; Sheila Unger; Juergen Kohlhase
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
American journal of medical genetics. Part A 2006;140A(17):1880-6.
2006: Birke Bausch; Wiktor Borozdin; Hartmut P H Neumann
Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma.
The New England journal of medicine 2006;354(25):2729-31.
2006: Jan Miertus; Wiktor Borozdin; Vladimir Frecer; Giorgio Tonini; Sara Bertok; Antonio Amoroso; Stanislav Miertus; Juergen Kohlhase
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.
Human genetics 2006;119(1-2):154-61.
2006: Wiktor Borozdin; Katharina Steinmann; Beate Albrecht; Armand Bottani; koenraad devriendt; Michael Leipoldt; Juergen Kohlhase
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.
Human mutation 2006;27(2):211-2.
2004: Wiktor Borozdin; D Boehm; Michael Leipoldt; C Wilhelm; W Reardon; J Clayton-Smith; K Becker; H Mühlendyck; R Winter; O Giray; F Silan; Juergen Kohlhase
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
Journal of medical genetics 2004;41(9):e113.
2004: Wiktor Borozdin; M J Wright; Raoul Hennekam; M C Hannibal; Y J Crow; T E Neumann; Juergen Kohlhase
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.
Journal of medical genetics 2004;41(8):e102.