Search Results

There are 9813 results for: content related to: Inflammatory bowel disease aggregation in Utah kindreds

  1. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 1, November 15, 2003, Pages: 45–59, Colleen A. Morris, Carolyn B. Mervis, Holly H. Hobart, Ronald G. Gregg, Jacquelyn Bertrand, Gregory J. Ensing, Annemarie Sommer, Cynthia A. Moore, Robert J. Hopkin, Patricia A. Spallone, Mark T. Keating, Lucy Osborne, Kendra W. Kimberley and A. Dean Stock

    Article first published online : 17 SEP 2003, DOI: 10.1002/ajmg.a.20496

  2. Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

    Clinical Endocrinology

    Volume 74, Issue 3, March 2011, Pages: 312–318, Mary D. Ruppe, Patrick G. Brosnan, Kit Sing Au, Phong X. Tran, Barbara W. Dominguez and Hope Northrup

    Article first published online : 8 FEB 2011, DOI: 10.1111/j.1365-2265.2010.03919.x

  3. You have free access to this content
    Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location

    Journal of Bone and Mineral Research

    Volume 26, Issue 4, April 2011, Pages: 873–880, Pekka Nieminen, Lisa Papagiannoulis-Lascarides, Janna Waltimo-Siren, Päivi Ollila, Sara Karjalainen, Sirpa Arte, Jaap Veerkamp, Victoria Tallon Walton, Eduard Chimenos Küstner, Tarja Siltanen, Heidi Holappa, Pirjo-Liisa Lukinmaa and Satu Alaluusua

    Article first published online : 23 MAR 2011, DOI: 10.1002/jbmr.276

  4. You have full text access to this OnlineOpen article
    GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 11–19, Manuel C. Lemos and Rajesh V. Thakker

    Article first published online : 28 NOV 2014, DOI: 10.1002/humu.22696

  5. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia

    Clinical Genetics

    Volume 68, Issue 2, August 2005, Pages: 137–145, S-C Lee, J-Y Guo, R Lim, R Soo, E Koay, M Salto-Tellez, A Leong and B-C Goh

    Article first published online : 23 MAY 2005, DOI: 10.1111/j.1399-0004.2005.00469.x

  6. Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management

    Clinical Endocrinology

    Volume 64, Issue 2, February 2006, Pages: 146–152, Filomena Cetani, Elena Pardi, Elena Ambrogini, Monica Lemmi, Simona Borsari, Luisella Cianferotti, Edda Vignali, Paolo Viacava, Piero Berti, Stefano Mariotti, Aldo Pinchera and Claudio Marcocci

    Article first published online : 4 JAN 2006, DOI: 10.1111/j.1365-2265.2006.02438.x

  7. Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case–control cohort study of familial and sporadic amyotrophic lateral sclerosis

    Annals of Neurology

    Volume 74, Issue 5, November 2013, Pages: 699–708, Susan Byrne, Mark Heverin, Marwa Elamin, Peter Bede, Catherine Lynch, Kevin Kenna, Russell MacLaughlin, Cathal Walsh, Ammar Al Chalabi and Orla Hardiman

    Article first published online : 10 SEP 2013, DOI: 10.1002/ana.23969

  8. You have free access to this content
    Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor

    International Journal of Cancer

    Volume 122, Issue 3, 1 February 2008, Pages: 711–718, Eric P. Kleinbaum, Alexander J.F. Lazar, Elena Tamborini, John C. Mcauliffe, Pamela B. Sylvestre, Thomas D. Sunnenberg, Louise Strong, Lei L. Chen, Haesun Choi, Robert S. Benjamin, Wei Zhang and Jonathan C. Trent

    Article first published online : 17 OCT 2007, DOI: 10.1002/ijc.23137

  9. Target gene analyses of 39 amelogenesis imperfecta kindreds

    European Journal of Oral Sciences

    Volume 119, Issue s1, December 2011, Pages: 311–323, Hui-Chen Chan, Ninna M. R. P. Estrella, Rachel N. Milkovich, Jung-Wook Kim, James P. Simmer and Jan C-C. Hu

    Article first published online : 13 JAN 2012, DOI: 10.1111/j.1600-0722.2011.00857.x

  10. You have free access to this content
    Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer


    Volume 85, Issue 12, 15 June 1999, Pages: 2512–2518, Karl Heinimann, Rodney J. Scott, Jean-Marie Buerstedde, Walter Weber, Karl Siebold, Michèle Attenhofer, Hansjakob Müller and Zuzana Dobbie

    Article first published online : 19 NOV 2000, DOI: 10.1002/(SICI)1097-0142(19990615)85:12<2512::AID-CNCR4>3.0.CO;2-G

  11. Subject Index

    Annals of Neurology

    Volume 55, Issue 6, June 2004, Pages: 907–922,

    Article first published online : 27 MAY 2004, DOI: 10.1002/ana.11003

  12. Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 1, 1 July 2003, Pages: 77–83, Michael P. Wajnrajch, Joseph M. Gertner, Alisa S. Sokoloff, Irina Ten, Madeleine D. Harbison, Irène Netchine, Hiralal G. Maheshwari, David B. Goldstein, Serge Amselem, Gerhard Baumann and Rudolph L. Leibel

    Article first published online : 9 JAN 2003, DOI: 10.1002/ajmg.a.10209

  13. You have free access to this content
    Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds

    British Journal of Haematology

    Volume 144, Issue 5, March 2009, Pages: 762–770, Bradley N. Smith, Phil J. Ancliff, Arnold Pizzey, Asim Khwaja, David C. Linch and Rosemary E. Gale

    Article first published online : 25 NOV 2008, DOI: 10.1111/j.1365-2141.2008.07493.x

  14. Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype

    Clinical Genetics

    Volume 75, Issue 5, May 2009, Pages: 485–489, BN Smith, a S Bevan, b C Vance, a P Renwick, c P Wilkinson, d,e C Proukakis, e F Squitieri, f A Berardelli, g TT Warner, e E Reid and b CE Shaw a,c

    Article first published online : 28 APR 2009, DOI: 10.1111/j.1399-0004.2009.01184.x


    Australian and New Zealand Journal of Surgery

    Volume 69, Issue 1, January 1999, Pages: 6–13, J. Moore and P. Cowled

    Article first published online : 6 APR 2002, DOI: 10.1046/j.1440-1622.1999.01469.x

  16. You have free access to this content
    American founder mutation for Lynch syndrome


    Volume 106, Issue 2, 15 January 2006, Pages: 448–452, Henry T. Lynch, Albert de la Chapelle, Heather Hampel, Anja Wagner, Riccardo Fodde, Jane F. Lynch, Ross Okimoto, Mary Beth Clark, Stephanie Coronel, Abdon Trowonou, Yun-Xin Fu, Gleb R. Haynatzki and Gordon Gong

    Article first published online : 13 DEC 2005, DOI: 10.1002/cncr.21624

  17. You have free access to this content
    Update on the profile of multiple endocrine neoplasia type 2a RET mutations


    Volume 80, Issue S3, 1 August 1997, Pages: 557–568, Ruth A. Decker and Michael L. Peacock

    Article first published online : 19 NOV 2000, DOI: 10.1002/(SICI)1097-0142(19970801)80:3+<557::AID-CNCR5>3.0.CO;2-6

  18. You have free access to this content
    The Pseudohypoparathyroidism Type 1b Locus Is Linked to a Region Including GNAS1 at 20q13.3

    Journal of Bone and Mineral Research

    Volume 18, Issue 3, March 2003, Pages: 424–433, Suzanne M Jan De Beur, Jeffery R O'Connell, Rita Peila, Justin Cho, Zhichao Deng, Stephen Kam and Michael A Levine

    Article first published online : 1 MAR 2003, DOI: 10.1359/jbmr.2003.18.3.424

  19. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

    Clinical Genetics

    Volume 74, Issue 4, October 2008, Pages: 358–366, C Boyd, MJ Smith, L Kluwe, A Balogh, M MacCollin and SR Plotkin

    Article first published online : 21 JUL 2008, DOI: 10.1111/j.1399-0004.2008.01060.x

  20. You have free access to this content
    Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma–pancreatic carcinoma syndrome


    Volume 98, Issue 4, 15 August 2003, Pages: 798–804, Stephen J. Rulyak, Teresa A. Brentnall, Henry T. Lynch and Melissa A. Austin

    Article first published online : 13 JUN 2003, DOI: 10.1002/cncr.11562