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There are 144265 results for: content related to: Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH

  1. Genotype–phenotype correlation in four 15q24 deleted patients identified by array-CGH

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2813–2819, Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attie-Bitach, Elsa Delaby, Michèle Mathieu, Hubert Journel, Henri Copin, Eléonore Blondeel, Martine Doco-Fenzy, Emilie Landais, Bruno Delobel, Sylvie Odent, Sylvie Manouvrier-Hanu and Muriel Holder-Espinasse

    Version of Record online : 16 NOV 2009, DOI: 10.1002/ajmg.a.33097

  2. A report of three patients with an interstitial deletion of chromosome 15q24

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 1, 15 August 2005, Pages: 65–71, Lisa J. Cushman, Wilfredo Torres-Martinez, Athena M. Cherry, Melanie A. Manning, Omar Abdul-Rahman, Carol E. Anderson, Hope H. Punnett, Virginia C. Thurston, Danielle Sweeney and Gail H. Vance

    Version of Record online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30836

  3. Intrachromosomal triplication for the distal part of chromosome 15q

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Pages: 179–184, C. Schluth, M. G. Mattei, C. Mignon-Ravix, S. Salman, Y. Alembik, J. Willig, E. Ginglinger and E. Jeandidier

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.a.30745

  4. Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 4, 1 May 2004, Pages: 398–402, Jennifer A. Roggenbuck, Nancy J. Mendelsohn, Beverly Tenenholz, Roger L. Ladda and James M. Fink

    Version of Record online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20617

  5. Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 218–224, Sandra C. Doelken, Karl Seeger, Patrick Hundsdoerfer, Wencke Weber-Ferro, Eva Klopocki and Luitgard Graul-Neumann

    Version of Record online : 14 DEC 2012, DOI: 10.1002/ajmg.a.35695

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    A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL

    British Journal of Haematology

    Volume 157, Issue 2, April 2012, Pages: 180–187, Susanne Haemmerling, Wolfgang Behnisch, Tobias Doerks, Jan O. Korbel, Peer Bork, Ute Moog, Sabine Hentze, Ute Grasshoff, Michael Bonin, Olaf Rieß, Johannes W. G. Janssen, Anna Jauch, Claus R. Bartram, Dirk Reinhardt, Karin A. Koch, Obul R. Bandapalli and Andreas E. Kulozik

    Version of Record online : 1 FEB 2012, DOI: 10.1111/j.1365-2141.2012.09028.x

  7. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2204–2212, M. Klaassens, R.J.H. Galjaard, D.A. Scott, H.T. Brüggenwirth, D. van Opstal, M.V. Fox, R.R. Higgins, T.E. Cohen-Overbeek, E.M. Schoonderwaldt, B. Lee, D. Tibboel and A. de Klein

    Version of Record online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31892

  8. Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3173–3178, Katharina M. Roetzer, Thomas Schwarzbraun, Anna C. Obenauf, Erwin Hauser and Michael R. Speicher

    Version of Record online : 24 NOV 2010, DOI: 10.1002/ajmg.a.33750

  9. Trisomy 15q25.2-qter in an autistic child: Genotype–phenotype correlations

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 184–188, Maria Teresa Bonati, Palma Finelli, Daniela Giardino, Giulietta Gottardi, Wendy Roberts and Lidia Larizza

    Version of Record online : 21 JAN 2005, DOI: 10.1002/ajmg.a.30503

  10. Phenotype–genotype correlation of a patient with a “balanced” translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1515–1522, Eleftheria Papadopoulou, Carolina Sismani, Christodoulos Christodoulou, Marios Ioannides, Maria Kalmanti and Philippos Patsalis

    Version of Record online : 11 MAY 2010, DOI: 10.1002/ajmg.a.33302

  11. Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13

    American Journal of Medical Genetics

    Volume 96, Issue 6, 4 December 2000, Pages: 765–770, Moyra Smith, Pauline A. Filipek, Charles Wu, Maureen Bocian, Simin Hakim, Charlotte Modahl and M. Anne Spence

    Version of Record online : 14 DEC 2000, DOI: 10.1002/1096-8628(20001204)96:6<765::AID-AJMG13>3.0.CO;2-L

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    Evidence of Linkage and Association with Body Fatness and Abdominal Fat on Chromosome 15q26

    Obesity

    Volume 15, Issue 8, August 2007, Pages: 2061–2070, Luigi Bouchard, Claude Bouchard, Yvon C. Chagnon and Louis Perusse

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2007.245

  13. Myelodysplastic syndrome in a child with 15q24 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 2, February 2012, Pages: 412–416, Yoko Narumi, Masaaki Shiohara, Keiko Wakui, Asahito Hama, Seiji Kojima, Kentaro Yoshikawa, Yoshiro Amano, Tomoki Kosho and Yoshimitsu Fukushima

    Version of Record online : 2 DEC 2011, DOI: 10.1002/ajmg.a.34395

  14. Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 4, 1 August 2004, Pages: 422–428, Genesio Rita, De Brasi Daniele, Conti Anna, Borghese Annamaria, Di Micco Pasqua, Di Costanzo Pasquale, Paladini Dario, Ungaro Paola and Prof. Nitsch Lucio

    Version of Record online : 25 MAY 2004, DOI: 10.1002/ajmg.a.30112

  15. A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 3, 1 September 2004, Pages: 312–315, L. Spruijt, J.J.M. Engelen, I.P. Bruinen-Smeijsters, J.C.M. Albrechts, J. Schrander and C.T.R.M. Schrander-Stumpel

    Version of Record online : 20 JUL 2004, DOI: 10.1002/ajmg.a.30185

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    The Human Obesity Gene Map: The 2005 Update

    Obesity

    Volume 14, Issue 4, April 2006, Pages: 529–644, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Louis Pérusse and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  17. Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 156, Issue 4, June 2011, Pages: 493–501, Holly N. Cukier, Daria Salyakina, Sarah F. Blankstein, Joycelyn L. Robinson, Stephanie Sacharow, Deqiong Ma, Harry H. Wright, Ruth K. Abramson, Ramkumar Menon, Scott M. Williams, Jonathan L. Haines, Michael L. Cuccaro, John R. Gilbert and Margaret A. Pericak-Vance

    Version of Record online : 7 APR 2011, DOI: 10.1002/ajmg.b.31188

  18. Kidney abnormalities in persons with monosomy 15q26

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1761–1764, Iosif W. Lurie

    Version of Record online : 16 JUN 2008, DOI: 10.1002/ajmg.a.32333

  19. An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3182–3189, Orazio Palumbo, Pietro Palumbo, Teresa Palladino, Raffaella Stallone, Mattia Miroballo, Maria Rosaria Piemontese, Leopoldo Zelante and Massimo Carella

    Version of Record online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35631

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    The Human Obesity Gene Map: The 2003 Update

    Obesity Research

    Volume 12, Issue 3, March 2004, Pages: 369–439, Eric E. Snyder, Brandon Walts, Louis Pérusse, Yvon C. Chagnon, S. John Weisnagel, Tuomo Rankinen and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2004.47