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There are 17591 results for: content related to: Familial case of Potocki–Shaffer syndrome associated with microdeletion of EXT2 and ALX4

  1. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 180–183, Louise Chuang, Keiko Wakui, Whey-Chen Sue, Mei-Hsu Su, Lisa G. Shaffer and Pao-Lin Kuo

    Article first published online : 21 JAN 2005, DOI: 10.1002/ajmg.a.30362

  2. A 137-kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 198–202, Nathan D. Montgomery, Christie M. Turcott, James H. Tepperberg, Marie T. McDonald and Arthur S. Aylsworth

    Article first published online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35671

  3. Identification of candidate liver tumor suppressor genes from human 11p11.2-p12

    Genes, Chromosomes and Cancer

    Volume 33, Issue 1, January 2002, Pages: 47–59, Sharon L. Ricketts, Nicole F. Garcia, Bryan L. Betz and William B. Coleman

    Article first published online : 8 NOV 2001, DOI: 10.1002/gcc.1210

  4. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 3011–3018, Jonathan D. J. Labonne, Julie Vogt, Lisa Reali, Il-Keun Kong, Lawrence C. Layman and Hyung-Goo Kim

    Article first published online : 3 SEP 2015, DOI: 10.1002/ajmg.a.37344

  5. You have full text access to this OnlineOpen article
    Aggregatibacter actinomycetemcomitans QseBC is activated by catecholamines and iron and regulates genes encoding proteins associated with anaerobic respiration and metabolism

    Molecular Oral Microbiology

    Volume 30, Issue 5, October 2015, Pages: 384–398, W.A. Weigel, D.R. Demuth, A. Torres-Escobar and M.D. Juárez-Rodríguez

    Article first published online : 5 JUN 2015, DOI: 10.1111/omi.12101

  6. Karyotype–phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 24, 15 December 2006, Pages: 2721–2729, Peining Li, Hui Z. Zhang, Shannon Huff, Manjunath Nimmakayalu, Mazin Qumsiyeh, Jingwei Yu, Anna Szekely, Tian Xu and Barbara R. Pober

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31498

  7. Phylogeography of the large Myotis bats (Chiroptera: Vespertilionidae) in Europe, Asia Minor, and Transcaucasia

    Biological Journal of the Linnean Society

    Volume 108, Issue 1, January 2013, Pages: 189–209, Andrzej Furman, Emrah Çoraman, Zoltan L. Nagy, Tomasz Postawa, Raşit Bilgin, Marta Gajewska and Wieslaw Bogdanowicz

    Article first published online : 10 OCT 2012, DOI: 10.1111/j.1095-8312.2012.01994.x

  8. Chromosome 11q13 and atopic asthma

    Clinical Genetics

    Volume 55, Issue 6, June 1999, Pages: 431–437, C N Adra , X-Q Mao1, H Kawada, P-S Gao, B Korzycka , J L Donate, S R Shaldon, P Coull, M Dubowitz , T Enomoto, A Ozawa, S A Syed, T Horiuchi, R Khaeraja, R Khan, S R Lin, F Flinter, P Beales, A Hagihara, H Inoko, T Shirakawa and Jm Hopkin

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550606.x

  9. Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 3, 15 October 2005, Pages: 225–228, Adriana Díaz-Anzaldúa, Jean-Baptiste Rivière, Marie-Pierre Dubé, Ridha Joober, Judith Saint-Onge, Yves Dion, Paul Lespérance, Francois Richer, Sylvain Chouinard and Guy Armand Rouleau

    Article first published online : 12 SEP 2005, DOI: 10.1002/ajmg.a.30928

  10. You have free access to this content
    Identification and characterization of the multiple endocrine neoplasia type 1 (MEN1) gene

    Journal of Internal Medicine

    Volume 243, Issue 6, June 1998, Pages: 433–439, Guru, Manickam, Crabtree, Olufemi, Agarwal, Debelenko, Zhuang, Lubensky, Kester, Kim, Heppner, Weisemann, Boguski, Wang, Roe, Burns, Liotta, Spiegel, Emmert-Buck, Marx, Collins and Chandrasekharappa

    Article first published online : 9 OCT 2008, DOI: 10.1046/j.1365-2796.1998.00346.x

  11. Dopaminergic mutations: Within-family association and linkage in multiplex alcohol dependence families

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 147B, Issue 4, 5 June 2008, Pages: 517–526, Shirley Y. Hill, Eric K. Hoffman, Nicholas Zezza, Anbupalam Thalamuthu, Daniel E. Weeks, Abigail G. Matthews and Indranil Mukhopadhyay

    Article first published online : 19 OCT 2007, DOI: 10.1002/ajmg.b.30630

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    Deletion mapping of chromosome segment 11q24-q25, exhibiting extensive allelic loss in early onset breast cancer

    International Journal of Cancer

    Volume 92, Issue 2, 15 April 2001, Pages: 208–213, Massimilano Gentile, Åsa Wiman, Sten Thorstenson, Niklas Loman, Åke Borg and Sten Wingren

    Article first published online : 21 FEB 2001, DOI: 10.1002/1097-0215(200102)9999:9999<::AID-IJC1169>3.0.CO;2-4

  13. Homozygous deletions within the 11q13 cervical cancer tumor-suppressor locus in radiation-induced, neoplastically transformed human hybrid cells

    Genes, Chromosomes and Cancer

    Volume 39, Issue 4, April 2004, Pages: 277–287, Marc S. Mendonca, Daphne L. Farrington, Brendan M. Mayhugh, Yan Qin, Toni Temples, Kathleen Comerford, Rita Chakrabarti, Kayvan Zainabadi, J. Leslie Redpath, Eric J. Stanbridge and Eri S. Srivatsan

    Article first published online : 22 JAN 2004, DOI: 10.1002/gcc.20007

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    Identification of two distinct deletion targets at 11q23 in cutaneous malignant melanoma

    International Journal of Cancer

    Volume 80, Issue 2, 18 January 1999, Pages: 205–209, Rudolf A. Herbst, Ralf Gutzmer, Frank Matiaske, Susanne Mommert, Uta Casper, Alexer Kapp and Jürgen Weiss

    Article first published online : 8 NOV 1999, DOI: 10.1002/(SICI)1097-0215(19990118)80:2<205::AID-IJC8>3.0.CO;2-J

  15. You have free access to this content
    Autosomal Dominant Gnathodiaphyseal Dysplasia Maps to Chromosome 11p14.3-15.1

    Journal of Bone and Mineral Research

    Volume 18, Issue 3, March 2003, Pages: 413–418, Satoshi Tsutsumi, Nobuyuki Kamata, Yutaka Maruoka, Miki Ando, Osamu Tezuka, Shoji Enomoto, Ken Omura, Masaru Nagayama, Eiji Kudo, Maki Moritani, Takashi Yamaoka and Mitsuo Itakura

    Article first published online : 1 MAR 2003, DOI: 10.1359/jbmr.2003.18.3.413

  16. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)

    Clinical Genetics

    Volume 66, Issue 2, August 2004, Pages: 144–151, M Faiyaz-Ul-Haque, W Ahmad, SHE Zaidi, S Hussain, S Haque, M Ahmad, DH Cohn and L-C Tsui

    Article first published online : 8 JUN 2004, DOI: 10.1111/j.1399-0004.2004.00275.x

  17. Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

    The Laryngoscope

    Volume 121, Issue 8, August 2011, Pages: 1760–1764, Yang Zha, Xing-ming Chen, Ching-wan Lam, Soo-chin Lee, Sui-fan Tong and Zhi-qiang Gao

    Article first published online : 25 JUL 2011, DOI: 10.1002/lary.21850

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    ATM gene deletion in patients with adult acute lymphoblastic leukemia


    Volume 88, Issue 5, 1 March 2000, Pages: 1057–1062, Mohammad A. Haidar, Hagop Kantarjian, Taghi Manshouri, Chin-Yung Chang, Susan O'Brien, Emil Freireich, Michael Keating and Maher Albitar

    Article first published online : 20 NOV 2000, DOI: 10.1002/(SICI)1097-0142(20000301)88:5<1057::AID-CNCR16>3.0.CO;2-6

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    Identification of tumor suppressive activity by irradiation microcell-mediated chromosome transfer and involvement of alpha B-crystallin in nasopharyngeal carcinoma

    International Journal of Cancer

    Volume 122, Issue 6, 15 March 2008, Pages: 1288–1296, Hong Lok Lung, Cathy Carfield Lo, Carmen Chak Lui Wong, Arthur Kwok Leung Cheung, Ka Fu Cheong, Nathalie Wong, Fung Mei Kwong, King Chi Chan, Evan Wai Lok Law, Sai Wah Tsao, Daniel Chua, Jonathan Shuntong Sham, Yue Cheng, Eric J. Stanbridge, Gavin P. Robertson and Maria Li Lung

    Article first published online : 20 NOV 2007, DOI: 10.1002/ijc.23259

  20. Potocki–shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 346–352, Alessandra Ferrarini, Muriel Gaillard, Frederic Guerry, Gianpaolo Ramelli, Fodstad Heidi, Caroline Verley Keddache, Ilse Wieland, Jacques S. Beckmann, Sébastien Jaquemont and Danielle Martinet

    Article first published online : 13 DEC 2013, DOI: 10.1002/ajmg.a.36140