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There are 15491 results for: content related to: Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members

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  1. Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): Phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 164–170, Emily Chen, Michele A. Choe, William D. Loughman, Susan Covert, Sheila Bitts, Amy Rowe, Linda Beischel and John P. Johnson

    Article first published online : 18 NOV 2004, DOI: 10.1002/ajmg.a.30511

  2. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1637–1654, William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica Roseberry, Gary D. Clark, Cynthia J.R. Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai, Julie Parsons, Dina J. Zand, Fuki M. Hisama, Christopher A. Walsh, Richard J. Leventer, Christa L. Martin, Marzena Gajecka and Lisa G. Shaffer

    Article first published online : 5 JUN 2008, DOI: 10.1002/ajmg.a.32293

  3. FISH analysis with locus-specific probes in sperm from two translocation carrier men

    Clinical Genetics

    Volume 56, Issue 2, August 1999, Pages: 129–135, Beyhan Durak, Yavuz Hakan Özön, Muhsin Özdemir, Sevilhan Artan, Nurettin Basaran, Seher Basaran and Cihangir Özkinay

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560206.x

  4. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1661–1677, Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott and Sung-Hae Lee Kang

    Article first published online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32896

  5. 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

  6. Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2437–2443, Gordana Raca, Amber Artzer, Laura Thorson, Suzanne Huber, Peggy Modaff, Jennifer Laffin and Richard M. Pauli

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33083

  7. Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

    Prenatal Diagnosis

    Volume 30, Issue 12-13, December 2010, Pages: 1131–1137, Idit Maya, Bella Davidov, Liron Gershovitz, Yael Zalzstein, Ellen Taub, Justine Coppinger, Lisa G. Shaffer and Mordechai Shohat

    Article first published online : 6 OCT 2010, DOI: 10.1002/pd.2626

  8. Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an lnfant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2538–2542, Robin R. McGoey and Yves Lacassie

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33078

  9. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1605–1615, Peining Li, Pawel Pomianowski, Miriam S. DiMaio, Joanne R. Florio, Michael R. Rossi, Bixia Xiang, Fang Xu, Hui Yang, Qian Geng, Jiansheng Xie and Maurice J. Mahoney

    Article first published online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34043

  10. Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 3, 1 February 2006, Pages: 245–256, Alina T. Midro, Ewa Wiland, Barbara Panasiuk, Ryszard Leśniewicz and Maciej Kurpisz

    Article first published online : 12 JAN 2006, DOI: 10.1002/ajmg.a.31083

  11. Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 1942–1954, Bixia Xiang, Ao Li, Dinu Valentin, Norma J. Nowak, Hongyu Zhao and Peining Li

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32411

  12. Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 22, 15 November 2008, Pages: 2898–2904, Craig Horbinski, Erika M. Carter, Patricia L. Heard, Malini Sathanoori, Jie Hu, Jerry Vockley, Shelly Gunn, Daniel E. Hale, Urvashi Surti and Jannine D. Cody

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32557

  13. Balanced complex chromosome rearrangements: Reproductive aspects. A review

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 947–963, Kamlesh Madan

    Article first published online : 1 MAR 2012, DOI: 10.1002/ajmg.a.35220

  14. You have full text access to this OnlineOpen article
    Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis

    Developmental Medicine & Child Neurology

    Volume 53, Issue 11, November 2011, Pages: 994–999, YANNIS TRAKADIS and MICHAEL SHEVELL

    Article first published online : 16 AUG 2011, DOI: 10.1111/j.1469-8749.2011.04080.x

  15. Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test: results from over 1000 consecutive cases

    Ultrasound in Obstetrics & Gynecology

    Volume 41, Issue 5, May 2013, Pages: 500–507, F. Scott, K. Murphy, L. Carey, W. Greville, N. Mansfield, P. Barahona, R. Robertson and A. McLennan

    Article first published online : 22 APR 2013, DOI: 10.1002/uog.12429

  16. Paper Abstracts of the ISPD 14th International Conference

    Prenatal Diagnosis

    Volume 28, Issue S1, May 2008, Pages: 1–76,

    Article first published online : 28 MAY 2008, DOI: 10.1002/pd.2024

  17. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1111–1126, Sung-Hae L. Kang, Chad Shaw, Zhishuo Ou, Patricia A. Eng, M. Lance Cooper, Amber N. Pursley, Trilochan Sahoo, Carlos A. Bacino, A. Craig Chinault, Pawel Stankiewicz, Ankita Patel, James R. Lupski and Sau Wai Cheung

    Article first published online : 25 MAR 2010, DOI: 10.1002/ajmg.a.33278

  18. Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies

    Annals of Human Genetics

    Volume 46, Issue 1, January 1982, Pages: 41–74, J. STENE and S. STENGEL-RUTKOWSKI

    Article first published online : 28 SEP 2007, DOI: 10.1111/j.1469-1809.1982.tb00694.x

  19. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

    Prenatal Diagnosis

    Volume 29, Issue 12, December 2009, Pages: 1156–1166, Justine Coppinger, Sarah Alliman, Allen N. Lamb, Beth S. Torchia, Bassem A. Bejjani and Lisa G. Shaffer

    Article first published online : 30 SEP 2009, DOI: 10.1002/pd.2371

  20. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

    Prenatal Diagnosis

    Volume 29, Issue 1, January 2009, Pages: 29–39, Ignatia B. Van den Veyver, Ankita Patel, Chad A. Shaw, Amber N. Pursley, Sung-Hae L. Kang, Marcia J. Simovich, Patricia A. Ward, Sandra Darilek, Anthony Johnson, Sarah E. Neill, Weimin Bi, Lisa D. White, Christine M. Eng, James R. Lupski, Sau Wai Cheung and Arthur L. Beaudet

    Article first published online : 14 NOV 2008, DOI: 10.1002/pd.2127

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