Search Results

There are 190970 results for: content related to: Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21

  1. 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

  2. Association between copy number variants in 16p11.2 and major depressive disorder in a German case–control sample

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 3, April 2012, Pages: 263–273, Franziska Degenhardt, Lutz Priebe, Stefan Herms, Manuel Mattheisen, Thomas W. Mühleisen, Sandra Meier, Susanne Moebus, Jana Strohmaier, Magdalena Groß, René Breuer, Christoph Lange, Per Hoffmann, Andreas Meyer-Lindenberg, Andreas Heinz, Henrik Walter, Susanne Lucae, Christiane Wolf, Bertram Müller-Myhsok, Florian Holsboer, Wolfgang Maier, Marcella Rietschel, Markus M. Nöthen and Sven Cichon

    Version of Record online : 17 FEB 2012, DOI: 10.1002/ajmg.b.32034

  3. 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

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  4. 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

  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

  6. 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

  7. 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

    Version of Record online : 14 NOV 2013, DOI: 10.1002/pd.4244

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

    Version of Record online : 19 APR 2012, DOI: 10.1111/j.1440-1843.2012.02165.x

  14. 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

  15. Characterization of a cryptic 3.3 Mb deletion in a patient with a “balanced t(15;22) translocation” using high density oligo array CGH and gene expression arrays

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 3, 1 February 2008, Pages: 368–375, Marilyn M. Li, Manjunath A. Nimmakayalu, Danielle Mercer, Hans C. Andersson and Beverly S. Emanuel

    Version of Record online : 17 JAN 2008, DOI: 10.1002/ajmg.a.32116

  16. 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

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 7, July 2009, Pages: 1504–1510, Alice Masurel-Paulet, Patrick Callier, Christel Thauvin-Robinet, Mondher Chouchane, Nathalie Mejean, Nathalie Marle, Anne-Laure Mosca, Douraied Ben Salem, Maurice Giroud, Laurent Guibaud, Frédéric Huet, Francine Mugneret and Laurence Faivre

    Version of Record online : 16 JUN 2009, DOI: 10.1002/ajmg.a.32904

  17. Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 2, 15 May 2007, Pages: 217–226, Sibel Kantarci and Patricia K. Donahoe

    Version of Record online : 13 APR 2007, DOI: 10.1002/ajmg.c.30132

  18. 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

  19. You have free access to this content
    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

  20. 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

    Version of Record online : 17 JUL 2002, DOI: 10.1002/ajmg.10708