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There are 26194 results for: content related to: Inherited 14q duplication and 21q deletion: A rare adjacent-2 segregation in multiple family members

  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

    Version of Record online : 18 NOV 2004, DOI: 10.1002/ajmg.a.30511

  2. 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

    Version of Record online : 1 MAR 2012, DOI: 10.1002/ajmg.a.35220

  3. Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21

    American Journal of Medical Genetics

    Volume 100, Issue 3, 1 May 2001, Pages: 246–250, Charles Lee, Darren J. Fowler, Emmanuelle Lemyre, Mary McH. Sandstrom, Lewis B. Holmes and Cynthia C. Morton

    Version of Record online : 2 MAY 2001, DOI: 10.1002/1096-8628(20010501)100:3<246::AID-AJMG1254>3.0.CO;2-N

  4. 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

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560206.x

  5. 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

    Version of Record online : 12 JAN 2006, DOI: 10.1002/ajmg.a.31083

  6. Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1428–1433, Duck Sung Ko, Jae Won Cho, So Yeon Park, Jin Young Kim, Mi Kyoung Koong, In Ok Song, Inn Soo Kang and Chun Kyu Lim

    Version of Record online : 11 MAY 2010, DOI: 10.1002/ajmg.a.33368

  7. 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

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.a.33078

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    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

    Version of Record online : 22 APR 2013, DOI: 10.1002/uog.12429

  9. Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement

    American Journal of Medical Genetics

    Volume 73, Issue 3, 19 December 1997, Pages: 327–329, Jie Xu, Judy Chernos and Birgitte Roland

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971219)73:3<327::AID-AJMG18>3.0.CO;2-L

  10. 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

    Version of Record online : 14 NOV 2008, DOI: 10.1002/pd.2127

  11. Monosomy 21q: two cases of del(21q) and review of the literature

    Clinical Genetics

    Volume 48, Issue 3, September 1995, Pages: 140–147, J.-L. Huret, C. Léonard, M. Chery, C. Philippe, E. Schafei-Benaissa, G. Lefaure, B. Labrune and S. Gilgenkrantz

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1995.tb04074.x

  12. 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

    Version of Record online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34043

  13. Sperm chromosome complements in a man heterozygous for a reciprocal translocation 46,XY,t(9;13)(q21.1;q21.2) and a review of the literature

    Clinical Genetics

    Volume 47, Issue 1, January 1995, Pages: 42–46, Renée H. Martin and Elizabeth L. Spriggs

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1995.tb03920.x

  14. 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

    Version of Record online : 5 JUN 2008, DOI: 10.1002/ajmg.a.32293

  15. 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

    Version of Record online : 25 MAR 2010, DOI: 10.1002/ajmg.a.33278

  16. 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

    Version of Record online : 28 SEP 2007, DOI: 10.1111/j.1469-1809.1982.tb00694.x

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    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

    Version of Record online : 16 AUG 2011, DOI: 10.1111/j.1469-8749.2011.04080.x

  18. Definitive molecular cytogenetic characterization of 15 colorectal cancer cell lines

    Genes, Chromosomes and Cancer

    Volume 49, Issue 3, March 2010, Pages: 204–223, Turid Knutsen, Hesed M. Padilla-Nash, Danny Wangsa, Linda Barenboim-Stapleton, Jordi Camps, Nicole McNeil, Michael J. Difilippantonio and Thomas Ried

    Version of Record online : 19 NOV 2009, DOI: 10.1002/gcc.20730

  19. Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost-consequences analysis

    Clinical Genetics

    Volume 71, Issue 3, March 2007, Pages: 254–259, WG Newman, S Hamilton, J Ayres, N Sanghera, A Smith, L Gaunt, LM Davies and J Clayton-Smith

    Version of Record online : 12 JAN 2007, DOI: 10.1111/j.1399-0004.2007.00756.x

  20. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

    Clinical Genetics

    Volume 81, Issue 2, February 2012, Pages: 128–141, G D'Amours, Z Kibar, G Mathonnet, R Fetni, F Tihy, V Désilets, S Nizard, JL Michaud and E Lemyre

    Version of Record online : 16 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01687.x