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There are 18926 results for: content related to: Clinical variability of Waardenburg–Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus

  1. Chromosome 13

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    eLS

    Andrew Dunham

    Published Online : 27 JAN 2006, DOI: 10.1038/npg.els.0005822

  2. Characterization of a familial balanced rec(13) in a child with mild MR and his half-sibling with two structurally rearranged chromosomes 13

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 2, 30 August 2005, Pages: 217–221, S. Mehra, L. Christ, L. Jeng, A. B. Zinn and S. Schwartz

    Version of Record online : 29 JUL 2005, DOI: 10.1002/ajmg.a.30866

  3. Allelotyping of esophageal squamous-cell carcinoma on chromosome 13 defines deletions related to family history

    Genes, Chromosomes and Cancer

    Volume 44, Issue 3, November 2005, Pages: 271–278, Nan Hu, Hua Su, Wen Jun Li, Carol Giffen, Alisa M. Goldstein, Ying Hu, Chaoyu Wang, Mark J Roth, Guang Li, Sanford M. Dawsey, Yi Xu, Philip R. Taylor and Michael R. Emmert-Buck

    Version of Record online : 13 JUL 2005, DOI: 10.1002/gcc.20242

  4. Allelic loss on chromosome bands 13q11-q13 in esophageal squamous cell carcinoma

    Genes, Chromosomes and Cancer

    Volume 31, Issue 4, August 2001, Pages: 390–397, Guang Li, Nan Hu, Alisa M. Goldstein, Ze-Zhong Tang, Mark J. Roth, Quan-Hong Wang, Sanford M. Dawsey, Xiao-You Han, Ti Ding, Jing Huang, Carol Giffen, Philip R. Taylor and Michael R. Emmert-Buck

    Version of Record online : 7 JUN 2001, DOI: 10.1002/gcc.1158

  5. Chromosome 13

    Standard Article

    Encyclopedia Of Molecular Medicine

    Andy Dunham

    Published Online : 15 JAN 2002, DOI: 10.1002/0471203076.emm0929

  6. Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1190–1194, Isabel López-Expósito, Juan Antonio Bafalliu, Mónica Santos, Carme Fuster, Alberto Puche-Mira and Encarna Guillén-Navarro

    Version of Record online : 3 APR 2008, DOI: 10.1002/ajmg.a.32187

  7. Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 894–900, Véronique Haddad, Azzedine Aboura, Lucie Tosca, Narjes Guediche, Anne-Elisabeth Mas, Aurore Coulomb L'Herminé, Luc Druart, Olivier Picone, Sophie Brisset and Gérard Tachdjian

    Version of Record online : 14 MAR 2012, DOI: 10.1002/ajmg.a.35258

  8. Clonal evolution in chronic lymphocytic leukemia: Analysis of correlations with IGHV mutational status, NOTCH1 mutations and clinical significance

    Genes, Chromosomes and Cancer

    Volume 52, Issue 10, October 2013, Pages: 920–927, Cristina López, Julio Delgado, Dolors Costa, Neus Villamor, Alba Navarro, Maite Cazorla, Cándida Gómez, Amparo Arias, Concha Muñoz, Sandra Cabezas, Tycho Baumann, María Rozman, Marta Aymerich, Dolors Colomer, Arturo Pereira, Francesc Cobo, Armando López-Guillermo, Elías Campo and Ana Carrió

    Version of Record online : 26 JUL 2013, DOI: 10.1002/gcc.22087

  9. You have free access to this content
    Multiplex ligation-dependent probe amplification for detection of genomic alterations in chronic lymphocytic leukaemia

    British Journal of Haematology

    Volume 142, Issue 5, September 2008, Pages: 793–801, Llorenç Coll-Mulet, Antonio F. Santidrián, Ana M. Cosialls, Daniel Iglesias-Serret, Mercè De Frias, Javier Grau, Anna Menoyo, Eva González-Barca, Gabriel Pons, Alicia Domingo and Joan Gil

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1365-2141.2008.07268.x

  10. You have free access to this content
    Identification of a characteristic copy number alteration profile by high-resolution single nucleotide polymorphism arrays associated with metastatic sporadic colorectal cancer

    Cancer

    Volume 120, Issue 13, 1 July 2014, Pages: 1948–1959, María González-González, Celia Fontanillo, María M. Abad, María L. Gutiérrez, Ines Mota, Oscar Bengoechea, Ángel Santos-Briz, Oscar Blanco, Emilio Fonseca, Juana Ciudad, Manuel Fuentes, Javier De Las Rivas, José A. Alcazar, Jacinto García, Luís Muñoz-Bellvis, Alberto Orfao and José M. Sayagués

    Version of Record online : 25 MAR 2014, DOI: 10.1002/cncr.28681

  11. Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2302–2308, Aia E. Jønch, Lise G. Larsen, Susanne Pouplier, Kate Nielsen, Karen Brøndum-Nielsen and Zeynep Tümer

    Version of Record online : 27 JUL 2012, DOI: 10.1002/ajmg.a.35505

  12. Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2504–2509, Chloe Quelin, Emmanuel Spaggiari, Suonavy Khung-Savatovsky, Celine Dupont, Laurent Pasquier, Laurence Loeuillet, Sylvie Jaillard, Josette Lucas, Pascale Marcorelles, Hubert Journel, Khantaby Pluquailec-Bilavarn, Anne Bazin, Alain Verloes, Anne-Lise Delezoide, Azzedine Aboura and Fabien Guimiot

    Version of Record online : 26 JUN 2014, DOI: 10.1002/ajmg.a.36658

  13. Biallelic deletion 13q14.3 in patients with chronic lymphocytic leukemia: cytogenetic, FISH and clinical studies

    European Journal of Haematology

    Volume 81, Issue 2, August 2008, Pages: 94–99, Christian Chena, Julio Sánchez Avalos, Raimundo F. Bezares, Guillermo Arrossagaray, Karina Turdó, Alicia Bistmans and Irma Slavutsky

    Version of Record online : 6 MAY 2008, DOI: 10.1111/j.1600-0609.2008.01086.x

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    The Human Obesity Gene Map: The 2005 Update

    Obesity

    Volume 14, Issue 4, April 2006, Pages: 529–644, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Louis Pérusse and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  15. Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 751–754, Neena L. Champaigne, Nicole A. Laird, Jill K. Northup and Gopalrao V.N. Velagaleti

    Version of Record online : 16 MAR 2009, DOI: 10.1002/ajmg.a.32733

  16. Neural tube defects and the 13q deletion syndrome: Evidence for a critical region in 13q33-34

    American Journal of Medical Genetics

    Volume 91, Issue 3, 20 March 2000, Pages: 227–230, Jeffrey Luo, Nancy Balkin, Julie F. Stewart, John F. Sarwark, Joel Charrow and Jeffrey S. Nye

    Version of Record online : 7 APR 2000, DOI: 10.1002/(SICI)1096-8628(20000320)91:3<227::AID-AJMG14>3.0.CO;2-I

  17. 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

  18. Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32[RIGHTWARDS ARROW]qter

    American Journal of Medical Genetics

    Volume 93, Issue 5, 28 August 2000, Pages: 399–402, Inga Talvik, Katrin Õunap, Oliver Bartsch, Tiiu Ilus, Oivi Uibo and Tiina Talvik

    Version of Record online : 14 AUG 2000, DOI: 10.1002/1096-8628(20000828)93:5<399::AID-AJMG10>3.0.CO;2-Q

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    Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5–6.0 Hz polyspike waves

    Molecular Genetics & Genomic Medicine

    Volume 4, Issue 2, March 2016, Pages: 197–210, Jenny E. Wight, Viet-Huong Nguyen, Marco T. Medina, Christopher Patterson, Reyna M. Durón, Yolly Molina, Yu-Chen Lin, Iris E. Martínez-Juárez, Adriana Ochoa, Aurelio Jara-Prado, Miyabi Tanaka, Dongsheng Bai, Sumaya Aftab, Julia N. Bailey and Antonio V. Delgado-Escueta

    Version of Record online : 23 JAN 2016, DOI: 10.1002/mgg3.195

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    Estradiol and its metabolites 4-hydroxyestradiol and 2-hydroxyestradiol induce mutations in human breast epithelial cells

    International Journal of Cancer

    Volume 118, Issue 8, 15 April 2006, Pages: 1862–1868, Sandra V. Fernandez, Irma H. Russo and Jose Russo

    Version of Record online : 14 NOV 2005, DOI: 10.1002/ijc.21590