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There are 2983709 results for: content related to: A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect

  1. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

    Clinical Genetics

    Volume 74, Issue 5, November 2008, Pages: 469–475, BC Ballif, A Theisen, DM McDonald-McGinn, EH Zackai, JH Hersh, BA Bejjani and LG Shaffer

    Article first published online : 21 SEP 2008, DOI: 10.1111/j.1399-0004.2008.01094.x

  2. Implications for genotype–phenotype predictions in Townes–Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 533–540, Erin M. Miller, Robert Hopkin, Liming Bao and Stephanie M. Ware

    Article first published online : 3 FEB 2012, DOI: 10.1002/ajmg.a.34426

  3. Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2365–2371, Ching-Fen Chang, Ling-Hui Li, Chung-Hsing Wang, Fuu-Jen Tsai, Tsai-Chuan Chen, Jer-Yuarn Wu, Yuan-Tsong Chen and Anne Chun-Hui Tsai

    Article first published online : 20 AUG 2010, DOI: 10.1002/ajmg.a.33580

  4. Detection of numerical alterations of chromosome 1 in cytopathological specimens of breast tumors by chromogen in situ hybridization

    Pathology International

    Volume 51, Issue 10, October 2001, Pages: 786–791, Teruko Takarabe, Hitoshi Tsuda, Satoshi Okada, Takashi Fukutomi and Setsuo Hirohashi

    Article first published online : 1 MAR 2002, DOI: 10.1046/j.1440-1827.2001.01282.x

  5. der(16)t(1;16)/der(1;16) in breast cancer detected by fluorescence in situ hybridization is an indicator of better patient prognosis

    Genes, Chromosomes and Cancer

    Volume 24, Issue 1, January 1999, Pages: 72–77, Hitoshi Tsuda, Teruko Takarabe, Takashi Fukutomi and Setsuo Hirohashi

    Article first published online : 6 JAN 1999, DOI: 10.1002/(SICI)1098-2264(199901)24:1<72::AID-GCC10>3.0.CO;2-M

  6. Novel evidence of a role for chromosome 1 pericentric heterochromatin in the pathogenesis of B-cell lymphoma and multiple myeloma

    Genes, Chromosomes and Cancer

    Volume 32, Issue 3, November 2001, Pages: 250–264, Patricia Le Baccon, Dominique Leroux, Christina Dascalescu, Samuel Duley, Danielle Marais, Eliane Esmenjaud, Jean Jacques Sotto and Mary Callanan

    Article first published online : 25 SEP 2001, DOI: 10.1002/gcc.1189

  7. SALL1 mutations in Townes-Brocks syndrome and related disorders

    Human Mutation

    Volume 16, Issue 6, December 2000, Pages: 460–466, Jürgen Kohlhase

    Article first published online : 28 NOV 2000, DOI: 10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4

  8. Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects

    American Journal of Medical Genetics

    Volume 102, Issue 3, 15 August 2001, Pages: 250–257, Winn S. Surka, Juergen Kohlhase, Cindy E. Neunert, Daniel S. Schneider and Virginia K. Proud

    Article first published online : 26 JUL 2001, DOI: 10.1002/1096-8628(20010815)102:3<250::AID-AJMG1479>3.0.CO;2-Q

  9. You have free access to this content
    Mouse homolog of SALL1, a causative gene for Townes–Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains

    Genes to Cells

    Volume 12, Issue 2, February 2007, Pages: 171–182, Kazunari Yamashita, Akira Sato, Makoto Asashima, Pi-Chao Wang and Ryuichi Nishinakamura

    Article first published online : 2 FEB 2007, DOI: 10.1111/j.1365-2443.2007.01042.x

  10. SIAH1 inactivation correlates with tumor progression in hepatocellular carcinomas

    Genes, Chromosomes and Cancer

    Volume 36, Issue 3, March 2003, Pages: 283–291, Koichi Matsuo, Seiji Satoh, Hiroshi Okabe, Akinari Nomura, Toshiki Maeda, Yoshio Yamaoka and Iwao Ikai

    Article first published online : 23 JAN 2003, DOI: 10.1002/gcc.10170

  11. Mosaic marker chromosome 16 resulting in 16q11.2–q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 2991–2996, Ayelet Zerem, Chana Vinkler, Marina Michelson, Esther Leshinsky-Silver, Tally Lerman-Sagie and Dorit Lev

    Article first published online : 3 NOV 2011, DOI: 10.1002/ajmg.a.34316

  12. You have full text access to this OnlineOpen article
    Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA

    Clinical Case Reports

    Carolina Sanchez-Jimeno, Ana Bustamante-Aragonés, Fernando Infantes-Barbero, Marta Rodriguez De Alba, Carmen Ramos, María Jose Trujillo-Tiebas and Isabel Lorda-Sánchez

    Article first published online : 15 SEP 2014, DOI: 10.1002/ccr3.117

  13. A mouse line expressing Sall1-driven inducible Cre recombinase in the kidney mesenchyme

    genesis

    Volume 48, Issue 3, March 2010, Pages: 207–212, Shuji Inoue, Miki Inoue, Sayoko Fujimura and Ryuichi Nishinakamura

    Article first published online : 1 FEB 2010, DOI: 10.1002/dvg.20603

  14. SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes

    Human Mutation

    Volume 29, Issue 9, September 2008, Pages: 1133–1140, Susan M. Kiefer, Lynn Robbins, Andrew Barina, Zhihong Zhang and Michael Rauchman

    Article first published online : 9 MAY 2008, DOI: 10.1002/humu.20759

  15. You have free access to this content
    Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

    Human Mutation

    Volume 27, Issue 2, February 2006, Pages: 211–212, Wiktor Borozdin, Katharina Steinmann, Beate Albrecht, Armand Bottani, Koenraad Devriendt, Michael Leipoldt and Jürgen Kohlhase

    Article first published online : 20 JAN 2006, DOI: 10.1002/humu.9396

  16. Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3150–3160, Dominic Furniss, Paul Critchley, Henk Giele and Andrew O.M. Wilkie

    Article first published online : 14 NOV 2007, DOI: 10.1002/ajmg.a.32097

  17. You have free access to this content
    The Human Obesity Gene Map: The 2003 Update

    Obesity Research

    Volume 12, Issue 3, March 2004, Pages: 369–439, Eric E. Snyder, Brandon Walts, Louis Pérusse, Yvon C. Chagnon, S. John Weisnagel, Tuomo Rankinen and Claude Bouchard

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2004.47

  18. You have full text access to this OnlineOpen article
    1q12 chromosome translocations form aberrant heterochromatic foci associated with changes in nuclear architecture and gene expression in B cell lymphoma

    EMBO Molecular Medicine

    Volume 2, Issue 5, May 2010, Pages: 159–171, Alexandra Fournier, Anne McLeer-Florin, Christine Lefebvre, Samuel Duley, Leila Barki, Juliana Ribeyron, Kassambara Alboukadel, Sieme Hamaidia, Aurélie Granjon, Rémy Gressin, Alicia Lajmanovich, Thierry Bonnefoix, Stéphanie Chauvelier, Alexandra Debernardi, Sophie Rousseaux, Florence de Fraipont, Martin Figeac, Jean-Pierre Kerckaert, John De Vos, Yves Usson, Katia Delaval, Alexei Grichine, Claire Vourc'h, Saadi Khochbin, Robert Feil, Dominique Leroux and Mary B. Callanan

    Article first published online : 29 APR 2010, DOI: 10.1002/emmm.201000067

  19. Kidney failure in Townes–Brocks syndrome: An under recognized phenomenon?

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 21, 1 November 2007, Pages: 2588–2591, William Reardon, Liam F. Casserly, Ralf Birkenhäger and Jürgen Kohlhase

    Article first published online : 1 OCT 2007, DOI: 10.1002/ajmg.a.31699

  20. SALL1 mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 18, 15 September 2006, Pages: 1904–1908, Johann Böhm, Susanne Munk-Schulenburg, Stephanie Felscher and Jürgen Kohlhase

    Article first published online : 4 AUG 2006, DOI: 10.1002/ajmg.a.31383