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There are 2530494 results for: content related to: An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review

  1. 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

    Article first published online : 14 DEC 2012, DOI: 10.1002/ajmg.a.35695

  2. You have free access to this content
    Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 77–86, Trent Burgess, Natasha J. Brown, Zornitza Stark, Damien L. Bruno, Ralph Oertel, Belinda Chong, Vanessa Calabro, Andrew Kornberg, Christine Sanderson, Julian Kelly, Katherine B. Howell, Ravi Savarirayan, Rupert Hinds, Anthea Greenway, Howard R. Slater and Susan M. White

    Article first published online : 21 NOV 2013, DOI: 10.1002/ajmg.a.36203

  3. 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

    Article first published online : 21 JAN 2005, DOI: 10.1002/ajmg.a.30503

  4. 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

    Article first published online : 11 MAY 2010, DOI: 10.1002/ajmg.a.33302

  5. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1427–1435, Roxana Kariminejad, Allan Lind-Thomsen, Zeynep Tümer, Fikret Erdogan, Hans H. Ropers, Niels Tommerup, Reinhard Ullmann and Rikke S. Møller

    Article first published online : 23 SEP 2011, DOI: 10.1002/humu.21585

  6. 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

    Article first published online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30836

  7. 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

    Article first published online : 25 MAY 2004, DOI: 10.1002/ajmg.a.30112

  8. Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2106–2112, Maja Hempel, Nuria Rivera Brugués, Janine Wagenstaller, Gaby Lederer, Andrea Weitensteiner, Heide Seidel, Thomas Meitinger and Tim M. Strom

    Article first published online : 12 AUG 2009, DOI: 10.1002/ajmg.a.33042

  9. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

    Human Mutation

    Volume 30, Issue 7, July 2009, Pages: 1082–1092, Dominic J. McMullan, Michael Bonin, Jayne Y. Hehir-Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Riess, Özge Altug-Teber, Herbert Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith M. Walker, Catherine V. Lamb, E. Val Davison, Louise Brueton, Olaf Riess and Joris A. Veltman

    Article first published online : 18 MAR 2009, DOI: 10.1002/humu.21015

  10. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1066–1078, Jonathan S. Berg, Lorraine Potocki and Carlos A. Bacino

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

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    Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population

    Respirology

    Volume 17, Issue 4, May 2012, Pages: 699–706, EUN YOUNG BAE, SHIN YUP LEE, BONG KYOON KANG, EUN JIN LEE, YI YOUNG CHOI, HYO-GYOUNG KANG, JIN EUN CHOI, HYO-SUNG JEON, WON KEE LEE, SHIN KAM, KYUNG MIN SHIN, GUANG JIN, SEUNG SOO YOO, JAEHEE LEE, SEUNG ICK CHA, CHANG HO KIM, TAE HOON JUNG and JAE YONG PARK

    Article first published online : 19 APR 2012, DOI: 10.1111/j.1440-1843.2012.02165.x

  12. 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

    Article first published online : 16 NOV 2009, DOI: 10.1002/ajmg.a.33097

  13. Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

    Prenatal Diagnosis

    Volume 33, Issue 13, December 2013, Pages: 1283–1292, P. D. Brady, P. DeKoninck, J. P. Fryns, K. Devriendt, J. A. Deprest and J. R. Vermeesch

    Article first published online : 14 NOV 2013, DOI: 10.1002/pd.4244

  14. 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

    Article first published online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31892

  15. Chromosome 15

    Standard Article

    eLS

    Chantal Farra and Cynthia C Morton

    Published Online : 16 APR 2007, DOI: 10.1002/9780470015902.a0005824.pub2

  16. 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

    Article first published online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20617

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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

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  18. Tetrasomy 15q25.3 [RIGHTWARDS ARROW] qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors

    American Journal of Medical Genetics

    Volume 113, Issue 1, 15 November 2002, Pages: 82–88, J. Hu, E. McPherson, U. Surti, S.L. Hasegawa, S. Gunawardena and S.M. Gollin

    Article first published online : 17 JUL 2002, DOI: 10.1002/ajmg.10708

  19. 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

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.a.30745

  20. Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 283–292, David A. Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y. Hehir-Kwa, Willy M. Nillesen, Ineke Neefs, Ine Scheltinga, Erik Sistermans, Dominique Smeets, Han G. Brunner, Ad Geurts van Kessel, Joris A. Veltman and Bert B.A. de Vries

    Article first published online : 9 DEC 2008, DOI: 10.1002/humu.20883