K
Krystyna H. Chrzanowska
Researcher at Memorial Hospital of South Bend
Publications - 119
Citations - 5282
Krystyna H. Chrzanowska is an academic researcher from Memorial Hospital of South Bend. The author has contributed to research in topics: Nijmegen breakage syndrome & Nibrin. The author has an hindex of 34, co-authored 116 publications receiving 4790 citations. Previous affiliations of Krystyna H. Chrzanowska include University of Freiburg.
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Journal ArticleDOI
Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
Raymonda Varon,Christine S. Vissinga,Matthias Platzer,Karen M. Cerosaletti,Krystyna H. Chrzanowska,Kathrin Saar,Georg Beckmann,Eva Seemanova,Paul R. Cooper,Norma J. Nowak,Markus Stumm,Corry M.R. Weemaes,Richard A. Gatti,Richard K. Wilson,Martin Digweed,André Rosenthal,Karl Sperling,Patrick Concannon,André Reis +18 more
TL;DR: The positional cloning of a gene encoding a novel protein, nibrin, which contains two modules found in cell cycle checkpoint proteins, a forkhead-associated domain adjacent to a breast cancer carboxy-terminal domain and a truncating 5 bp deletion are described.
Journal ArticleDOI
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Anita Rauch,Christian Thiel,Detlev Schindler,Ursula Wick,Yanick J. Crow,Arif B. Ekici,Anthonie J. van Essen,Timm O. Goecke,Lihadh Al-Gazali,Krystyna H. Chrzanowska,Christiane Zweier,Han G. Brunner,Kristin Becker,Cynthia J. Curry,Bruno Dallapiccola,Koenraad Devriendt,Arnd Dörfler,Esther Kinning,André Mégarbané,Peter Meinecke,Robert K. Semple,Stephanie Spranger,Annick Toutain,Richard C. Trembath,Egbert Voss,Louise C. Wilson,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Francis de Zegher,Helmuth G. Dörr,André Reis +31 more
TL;DR: Using genetic linkage analysis, the authors found that mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
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Diagnosis and management of Silver–Russell syndrome: first international consensus statement
Emma Wakeling,Frédéric Brioude,Frédéric Brioude,Oluwakemi Lokulo-Sodipe,Oluwakemi Lokulo-Sodipe,Susan M. O’Connell,Jennifer Salem,Jet Bliek,Ana Pinheiro Machado Canton,Krystyna H. Chrzanowska,Justin H Davies,Renuka P Dias,Renuka P Dias,Renuka P Dias,Béatrice Dubern,Miriam Elbracht,Eloise Giabicani,Eloise Giabicani,Adda Grimberg,Karen Grønskov,Anita C. S. Hokken-Koelega,Alexander A. L. Jorge,Masayo Kagami,Agnès Linglart,Mohamad Maghnie,Klaus Mohnike,David Monk,Gudrun E. Moore,Philip Murray,Tsutomu Ogata,Isabelle Oliver Petit,Silvia Russo,Edith Said,Edith Said,Meropi Toumba,Zeynep Tümer,Gerhard Binder,Thomas Eggermann,Madeleine D. Harbison,I. Karen Temple,I. Karen Temple,Deborah J G Mackay,Irène Netchine,Irène Netchine +43 more
TL;DR: The consensus statement as discussed by the authors summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation.
Journal ArticleDOI
Nijmegen breakage syndrome (NBS)
Krystyna H. Chrzanowska,Hanna Gregorek,Bożenna Dembowska-Bagińska,Maria Kalina,Martin Digweed +4 more
TL;DR: No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients and genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected.
Journal ArticleDOI
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Dagmar Wieczorek,Nina Bögershausen,Filippo Beleggia,Sabine Steiner-Haldenstätt,Esther Pohl,Yun Li,Esther Milz,Marcel Martin,Holger Thiele,Janine Altmüller,Yasemin Alanay,Yasemin Alanay,Hülya Kayserili,Ludger Klein-Hitpass,Stefan Böhringer,Andreas Wollstein,Beate Albrecht,Koray Boduroğlu,Almuth Caliebe,Krystyna H. Chrzanowska,Ozgur Cogulu,Francesca Cristofoli,Johanna Christina Czeschik,Koenraad Devriendt,Maria Teresa Dotti,Nursel Elcioglu,Blanca Gener,Timm O. Goecke,Małgorzata Krajewska-Walasek,Encarnación Guillén-Navarro,Joussef Hayek,Gunnar Houge,Esra Kılıç,Pelin Ozlem Simsek-Kiper,Vanesa López-González,Alma Kuechler,Stanislas Lyonnet,Francesca Mari,Annabella Marozza,Michèle Mathieu Dramard,Barbara Mikat,Gilles Morin,Fanny Morice-Picard,Ferda Ozkinay,Anita Rauch,Alessandra Renieri,Sigrid Tinschert,G. Eda Utine,Catheline Vilain,R. Vivarelli,Christiane Zweier,Peter Nürnberg,Sven Rahmann,Joris Vermeesch,Hermann-Josef Lüdecke,Michael Zeschnigk,Bernd Wollnik +56 more
TL;DR: It is shown that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations, and proposed genotype-phenotype correlations are important for molecular screening strategies.