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There are 23758 results for: content related to: Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci

  1. 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

  2. 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

    Article first published online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35631

  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. 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

  6. 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

  7. Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3139–3143, Laura I. Rudaks, Jillian K. Nicholl, Drago Bratkovic and Christopher P. Barnett

    Article first published online : 7 NOV 2011, DOI: 10.1002/ajmg.a.34310

  8. 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

  9. You have free access to this content
    15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 147–154, Katrina Tatton-Brown, Daniela T. Pilz, Karen Helene Örstavik, Michael Patton, John C.K. Barber, Morag N. Collinson, Vivienne K. Maloney, Shuwen Huang, John A. Crolla, Karen Marks, Eli Ormerod, Peter Thompson, Zafar Nawaz, Christa Lese-Martin, Susan Tomkins, Paula Waits, Nazneen Rahman and Meriel McEntagart

    Article first published online : 9 JAN 2009, DOI: 10.1002/ajmg.a.32534

  10. 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

  11. 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

    Article first published online : 17 JAN 2008, DOI: 10.1002/ajmg.a.32116

  12. 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

  13. Tetrasomy 15q25.2 [RIGHTWARDS ARROW] qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1971–1976, Jaya K. George-Abraham, Sarah L. Zimmerman, Robert B. Hinton, Bradley S. Marino, David P. Witte and Robert J. Hopkin

    Article first published online : 18 JUN 2012, DOI: 10.1002/ajmg.a.35428

  14. An infant with deletion of the distal long arm of chromosome 15 (q26.1[RIGHTWARDS ARROW]qter) and loss of insulin-like growth factor 1 receptor gene

    American Journal of Medical Genetics

    Volume 38, Issue 1, 1 January 1991, Pages: 74–79, Ellen W. Roback, Amin J. Barakat, V. G. Dev, Majambu Mbikay, Michel Chrétien and Merlin G. Butler

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320380117

  15. 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

  16. You have free access to this content
    Functional effect of polymorphisms in 15q25 locus on CHRNA5 mRNA, bulky DNA adducts and TP53 mutations

    International Journal of Cancer

    Volume 132, Issue 8, 15 April 2013, Pages: 1811–1820, Xavier Tekpli, Nina E. Landvik, Vidar Skaug, Amund Gulsvik, Aage Haugen and Shanbeh Zienolddiny

    Article first published online : 20 OCT 2012, DOI: 10.1002/ijc.27870

    Corrected by:

    Errata: Erratum

    Vol. 135, Issue 10, E12, Article first published online: 8 SEP 2014

  17. 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

  18. Smoking and Genetic Risk Variation Across Populations of European, Asian, and African American Ancestry—A Meta-Analysis of Chromosome 15q25

    Genetic Epidemiology

    Volume 36, Issue 4, May 2012, Pages: 340–351, Li-Shiun Chen, Nancy L. Saccone, Robert C. Culverhouse, Paige M. Bracci, Chien-Hsiun Chen, Nicole Dueker, Younghun Han, Hongyan Huang, Guangfu Jin, Takashi Kohno, Jennie Z. Ma, Thomas R. Przybeck, Alan R. Sanders, Jennifer A. Smith, Yun Ju Sung, Angie S. Wenzlaff, Chen Wu, Dankyu Yoon, Ying-Ting Chen, Yu-Ching Cheng, Yoon Shin Cho, Sean P. David, Jubao Duan, Charles B. Eaton, Helena Furberg, Alison M. Goate, Dongfeng Gu, Helen M. Hansen, Sarah Hartz, Zhibin Hu, Young Jin Kim, Steven J. Kittner, Douglas F. Levinson, Thomas H. Mosley, Thomas J. Payne, D. C. Rao, John P. Rice, Treva K. Rice, Tae-Hwi Schwantes-An, Sanjay S. Shete, Jianxin Shi, Margaret R. Spitz, Yan V. Sun, Fuu-Jen Tsai, Jen C. Wang, Margaret R. Wrensch, Hong Xian, Pablo V. Gejman, Jiang He, Steven C. Hunt, Sharon L. Kardia, Ming D. Li, Dongxin Lin, Braxton D. Mitchell, Taesung Park, Ann G. Schwartz, Hongbing Shen, John K. Wiencke, Jer-Yuarn Wu, Jun Yokota, Christopher I. Amos and Laura J. Bierut

    Article first published online : 26 APR 2012, DOI: 10.1002/gepi.21627

  19. 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

  20. Tetrasomy 15q25[RIGHTWARDS ARROW]qter: Cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome

    American Journal of Medical Genetics

    Volume 93, Issue 5, 28 August 2000, Pages: 393–398, Amy G. Rowe, Liane Abrams, Yong Qu, Emily Chen and Philip D. Cotter

    Article first published online : 14 AUG 2000, DOI: 10.1002/1096-8628(20000828)93:5<393::AID-AJMG9>3.0.CO;2-Z