Resultats de la cerca - Reinhard Ullmann

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  1. 1
    CGHPRO – A comprehensive data analysis tool for array CGH

    CGHPRO – A comprehensive data analysis tool for array CGH per Wei Chen, Fikret Erdogan, H-Hilger Ropers, Steffen Lenzner, Reinhard Ullmann

    Publicat 2005
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  2. 2
    Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients

    Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients per Stella‐Amrei Kunde, Nils Rademacher, Andreas Tzschach, Eberhard Wiedersberg, Reinhard Ullmann, Vera M. Kalscheuer, Sarah A. Shoichet

    Publicat 2013
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  3. 3
    Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

    Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions per Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein‐Hitpaß, Deniz Kanber, Katrin Õunap, Marc Kaulisch, Dietmar Lohmann

    Publicat 2011
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  4. 4
    Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia

    Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia per Arne Bokemeyer, Cornelia Eckert, Franziska Meyr, G. Koerner, Arend von Stackelberg, Reinhard Ullmann, Seval Türkmen, G. Henze, Karl Seeger

    Publicat 2013
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  5. 5
    Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young

    Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young per Klemens Raile, Eva Klopocki, Martin Holder, Theda Wessel, Angela Galler, Dorothee Deiss, Dominik Müller, T Riebel, Denise Horn, Monika Maringa, Jürgen Weber, Reinhard Ullmann, Annette Grüters

    Publicat 2009
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  6. 6
    Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

    Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia per George Kirov, Dilihan Gumus, Wei Chen, Nadine Norton, L. Georgieva, Murat Sarı, Michael O’Donovan, Fikret Erdogan, Michael J. Owen, H.-H. Ropers, Reinhard Ullmann

    Publicat 2007
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  7. 7
    Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

    Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 per Linda P. Jakobsen, Reinhard Ullmann, Stina Christensen, Kim Ebensgaard Jensen, Kirsten Mølsted, K. Henriksen, Christine Søholm Hansen, Mary A. Knudsen, Lars Allan Larsen, Niels Tommerup, Zeynep Tümer

    Publicat 2007
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  8. 8
    Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

    Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly per Rikke S. Møller, Sabine Kübart, Maria Hoeltzenbein, Babett Heye, Ida Vogel, Christian Pilebæk Hansen, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Hans‐Hilger Ropers, Zeynep Tümer, Vera M. Kalscheuer

    Publicat 2008
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  9. 9
    Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

    Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 per Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W. Kuß, Hossein Najmabadi, Andreas Tzschach

    Publicat 2010
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  10. 10
    Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: a genetic analysis

    Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: a genetic analysis per Elvira Stacher, Reinhard Ullmann, Iris Halbwedl, Margit Gogg‐Kammerer, Liliane Boccon-Gibod, Andrew G. Nicholson, Mary N. Sheppard, Lina Carvalho, Maria Teresa Franca, Fergus MacSweeney, Alicia Morresi‐Hauf, Helmut Popper

    Publicat 2004
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  11. 11
    Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

    Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy per Heather C. Mefford, Séverine Clauin, Andrew J. Sharp, Rikke S. Møller, Reinhard Ullmann, Raj P. Kapur, Dan Pinkel, Gregory M. Cooper, Mario Ventura, Hans‐Hilger Ropers, Niels Tommerup, Evan E. Eichler, Christine Bellanné‐Chantelot

    Publicat 2007
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  12. 12
    Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure

    Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure per Clelia Tiziana Storlazzi, Angelo Lonoce, Maria Corsignano Guastadisegni, Domenico Trombetta, Pietro D’Addabbo, Giulia Daniele, Alberto L’Abbate, Gemma Macchia, Cecilia Surace, Klaas Kok, Reinhard Ullmann, Stefania Purgato, Orazio Palumbo, Massimo Carella, Peter F. Ambros, Mariano Rocchi

    Publicat 2010
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  13. 13
    Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

    Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders per Mette Gilling, Hanne B. Rasmussen, Kirstine Calløe, Ana Filipa Sequeira, Marta Baretto, Guiomar Oliveira, Joana Almeida, Marlene Briciet Lauritsen, Reinhard Ullmann, Susanne E. Boonen, Karen Brøndum‐Nielsen, Vera M. Kalscheuer, Zeynep Tümer, Astrid M. Vicente, Nicole Schmitt, Niels Tommerup

    Publicat 2013
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  14. 14
    A balanced chromosomal translocation disrupting<i>ARHGEF9</i>is associated with epilepsy, anxiety, aggression, and mental retardation

    A balanced chromosomal translocation disrupting<i>ARHGEF9</i>is associated with epilepsy, anxiety, aggression, and mental retardation per Vera M. Kalscheuer, Luciana Musante, Cheng Fang, Kirsten Hoffmann, Céline Fuchs, Eloisa Carta, Emma Deas, Venkateswarlu Kanamarlapudi, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Leda Dalprà, Andreas Tzschach, Angelo Selicorni, Bernhard Lüscher, Hans‐Hilger Ropers, Kirsten Harvey, Victoria L. Harvey

    Publicat 2008
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  15. 15
    Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

    Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome per Eva Klopocki, Harald Schulze, Gabriele Strauß, Claus‐Eric Ott, Judith G. Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth Newbury‐Ecob, Luitgard M. Neumann, R. Habenicht, Rainer König, E Seemanová, André Mégarbané, Hans‐Hilger Ropers, Reinhard Ullmann, Denise Horn, Stefan Mundlos

    Publicat 2007
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  16. 16
    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation per Mohammad Mahdi Motazacker, Benjamin R. Rost, Tim Hucho, Masoud Garshasbi, Kimia Kahrizi, Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini, Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans Hilger Ropers, Hossein Najmabadi, Andreas W. Kuß

    Publicat 2007
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  17. 17
    Mapping translocation breakpoints by next-generation sequencing

    Mapping translocation breakpoints by next-generation sequencing per Wei Chen, Vera M. Kalscheuer, Andreas Tzschach, Corinna Menzel, Reinhard Ullmann, Marcel H. Schulz, Fikret Erdogan, Na Li, Zofia Kijas, Ger J. A. Arkesteijn, I. López Pajares, Margret Goetz-Sothmann, Uwe Heinrich, Imma Rost, Andreas Dufke, Ute Grasshoff, Birgitta Glaeser, Martin Vingron, Hans‐Hilger Ropers

    Publicat 2008
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  18. 18
    Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

    Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing per Wei Chen, Reinhard Ullmann, Claudia Langnick, Corinna Menzel, Zofia Wotschofsky, Hao Hu, Andreas Gogol‐Döring, Yuhui Hu, Hui Kang, Andreas Tzschach, Maria Hoeltzenbein, Heidemarie Neitzel, Susanne Markus, Eberhard Wiedersberg, G Kistner, Conny M. A. van Ravenswaaij-Arts, Tjitske Kleefstra, Vera M. Kalscheuer, Hans‐Hilger Ropers

    Publicat 2009
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  19. 19
    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 per Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K. Bijlsma, Arif B. Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Christina Prott, Sigrid Tinschert, Reinhard Ullmann, Eva Wohlleber, Geoffrey Woods, André Reis, Anita Rauch, Christiane Zweier

    Publicat 2011
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  20. 20
    Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

    Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation per Reinhard Ullmann, Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce J. Tonge, Carla Rosenberg, Michael Field, Angela Maria Vianna‐Morgante, Louise Christie, Ana Cristina Victorino Krepischi, Lynn Banna, Avril V. Brereton, Alyssa C. Hill, Anne‐Marie Bisgaard, Ines Müller, Claus Hultschig, Fikret Erdogan, Georg Wieczorek, Hans‐Hilger Ropers

    Publicat 2007
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