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There are 6264 results for: content related to: A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21–12p12.2 by oligonucleotide array CGH

  1. Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3033–3045, Kosuke Izumi, Laura K. Conlin, Donna Berrodin, Christopher Fincher, Alisha Wilkens, Chad Haldeman-Englert, Sulagna C. Saitta, Elaine H. Zackai, Nancy B. Spinner and Ian D. Krantz

    Article first published online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35500

  2. A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 3, 1 February 2006, Pages: 238–244, Desheng Liang, Lingqian Wu, Qian Pan, Naoki Harada, Zhigao Long, Kun Xia, Koh-ichiro Yoshiura, Heping Dai, Norio Niikawa, Fang Cai and Jiahui Xia

    Article first published online : 12 JAN 2006, DOI: 10.1002/ajmg.a.31077

  3. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 728–740, Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger Ladda, Susan Sell, Judith Martin, Shawnia Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan-Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye, Bénédicte Heron-Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloes, Bertrand Isidor, Cedric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif and Lisa G. Shaffer

    Article first published online : 12 MAR 2012, DOI: 10.1002/humu.22037

  4. A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1745–1752, Yasemin Soysal, Joris Vermeesch, Nooshin Ardeshir Davani, Kuyaş Hekimler and Necat İmirzalıoğlu

    Article first published online : 27 MAY 2011, DOI: 10.1002/ajmg.a.34101

  5. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 1, 1 January 2003, Pages: 66–70, Birgitta Gläser, Eva Rossier, Gotthold Barbi, Loredana Delle Chiaie, Christian Blank, Walther Vogel and Hildegard Kehrer-Sawatzki

    Article first published online : 30 AUG 2002, DOI: 10.1002/ajmg.a.10878

  6. Role of gain of 12p in germ cell tumour development

    APMIS

    Volume 111, Issue 1, January 2003, Pages: 161–170, LEENDERT H. J. LOOIJENGA, GAETANO ZAFARANA, BEATA GRYGALEWICZ, BRENDA SUMMERSGILL, MARIA DEBIEC-RYCHTER, JORIS VELTMAN, ERIC F. P. M. SCHOENMAKERS, SANDRINE RODRIGUEZ, OSMAN JAFER, JEREMY CLARK, AD GEURTS VAN KESSEL, JANET SHIPLEY, RUUD J. H. L. M. VAN GURP, AD J. M. GILLIS and J. WOLTER OOSTERHUIS

    Article first published online : 6 MAY 2003, DOI: 10.1034/j.1600-0463.2003.11101201.x

  7. Deletions of CDKN1B and ETV6 in acute myeloid leukemia and myelodysplastic syndromes without cytogenetic evidence of 12p abnormalities

    Genes, Chromosomes and Cancer

    Volume 19, Issue 2, June 1997, Pages: 77–83, Patrik Andreasson, Bertil Johansson, Kristina Arheden, Rolf Billström, Felix Mitelman and Mattias Höglund

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199706)19:2<77::AID-GCC2>3.0.CO;2-X

  8. Subtelomeric deletion of 12p: Description of a third case and review

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1561–1566, A.H. MacDonald, L. Rodríguez, I. Aceña, M.L. Martínez-Fernández, D. Sánchez-Izquierdo, E. Zuazo and M.L. Martínez-Frías

    Article first published online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33401

  9. COMMENTS

    APMIS

    Volume 111, Issue 1, January 2003, Pages: 161–170,

    Article first published online : 28 JUN 2008, DOI: 10.1034/j.1600-0463.2003.11101202.x

  10. Abnormalities of the der(12)t(12;21) in ETV6-RUNX1 acute lymphoblastic leukemia

    Genes, Chromosomes and Cancer

    Volume 52, Issue 2, February 2013, Pages: 202–213, Halima Al-Shehhi, Zoe J. Konn, Claire J. Schwab, Amy Erhorn, Kerry E. Barber, Sarah L. Wright, Alem S. Gabriel, Christine J. Harrison and Anthony V. Moorman

    Article first published online : 18 OCT 2012, DOI: 10.1002/gcc.22021

  11. Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 505–509, Alison Yeung, David Francis, Olivia Giouzeppos and David J. Amor

    Article first published online : 12 FEB 2009, DOI: 10.1002/ajmg.a.32664

  12. Rearrangement between the MYH11 gene at 16p13 and D12S158 at 12p13 in a case of acute myeloid leukemia M1 (AML-M1)

    Genes, Chromosomes and Cancer

    Volume 23, Issue 1, September 1998, Pages: 10–15, Roberta La Starza, Iwona Wlodarska, Caterina Matteucci, Daniela Falzetti, Mathijs Baens, Massimo F. Martelli, Herman Van den Berghe, Peter Marynen and Cristina Mecucci

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199809)23:1<10::AID-GCC2>3.0.CO;2-9

  13. You have free access to this content
    Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12

    British Journal of Haematology

    Volume 100, Issue 3, March 1998, Pages: 521–533, Berthold Streubel, Cristina Sauerland, Gerhard Heil, Mathias Freund, Heinrich Bartels, Eva Lengfelder, Hannes Wandt, Wolf-Dieter Ludwig, Hadwiga Nowotny, Michael Baldus, Bernward Grothaus-Pinke, Thomas Büchner and Christa Fonatsch

    Article first published online : 25 DEC 2001, DOI: 10.1046/j.1365-2141.1998.00591.x

  14. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 3, 1 September 2004, Pages: 261–264, Walter Zumkeller, Marianne Volleth, Petra Muschke, Holger Tönnies, Anita Heller, Thomas Liehr, Peter Wieacker and Markus Stumm

    Article first published online : 11 JUN 2004, DOI: 10.1002/ajmg.a.30125

  15. Detailed genomic mapping and expression analyses of 12p amplifications in pancreatic carcinomas reveal a 3.5-Mb target region for amplification

    Genes, Chromosomes and Cancer

    Volume 34, Issue 2, June 2002, Pages: 211–223, Markus Heidenblad, Tord Jonson, Eija H. Mahlamäki, Ludmila Gorunova, Ritva Karhu, Bertil Johansson and Mattias Höglund

    Article first published online : 8 MAR 2002, DOI: 10.1002/gcc.10063

  16. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect

    Clinical Genetics

    Volume 61, Issue 3, March 2002, Pages: 198–201, E Baker, L Hinton, DF Callen, EA Haan, A Dobbie and GR Sutherland

    Article first published online : 8 MAY 2002, DOI: 10.1034/j.1399-0004.2002.610305.x

  17. Post-zygotic origin of isochromosome 12p

    Prenatal Diagnosis

    Volume 24, Issue 12, 15 December 2004, Pages: 984–988, Dr Thomy J. L. de Ravel, Kathelijn Keymolen, Elvire van Assche, Ingrid Wittevronghel, Philippe Moerman, Ivo Salden, Gert Matthijs, Jean-Pierre Fryns and Joris R. Vermeesch

    Article first published online : 21 DEC 2004, DOI: 10.1002/pd.956

  18. A Meniere's disease gene linked to chromosome 12p12.3

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 141B, Issue 5, 5 July 2006, Pages: 463–467, Joakim Klar, Carina Frykholm, Ulla Friberg and Niklas Dahl

    Article first published online : 1 JUN 2006, DOI: 10.1002/ajmg.b.30347

  19. The testicular germ cell tumour genome

    APMIS

    Volume 111, Issue 1, January 2003, Pages: 136–151, ROLF I. SKOTHEIM and RAGNHILD A. LOTHE

    Article first published online : 6 MAY 2003, DOI: 10.1034/j.1600-0463.2003.11101181.x

  20. Familial cryptic translocation with del 4q34[RIGHTWARDS ARROW]qter and dup 12pter[RIGHTWARDS ARROW]p13 in sibs with tracheal stenosis: Clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 271–280, Barbara Fritz, Susanne Greber-Platzer, Thomas Frischer, Berthold Streubel, Johann Gröblacher, Gabriele Amann, Pavel Ventruba, Helga Rehder and Christa Fonatsch

    Article first published online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<271::AID-AJMG2>3.0.CO;2-Y