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There are 9885 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

    Version of Record online : 17 SEP 2003, DOI: 10.1002/ajmg.a.20496

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    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

    Version of Record online : 23 MAR 2011, DOI: 10.1002/jbmr.276

  3. 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

    Version of Record online : 8 FEB 2011, DOI: 10.1111/j.1365-2265.2010.03919.x

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    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

    Version of Record online : 25 NOV 2008, DOI: 10.1111/j.1365-2141.2008.07493.x

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    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

    Version of Record online : 28 NOV 2014, DOI: 10.1002/humu.22696

  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

    Version of Record 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

    Version of Record online : 10 SEP 2013, DOI: 10.1002/ana.23969

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    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

    Version of Record 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

    Version of Record online : 13 JAN 2012, DOI: 10.1111/j.1600-0722.2011.00857.x

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    Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer

    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

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

  11. 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

    Version of Record online : 9 JAN 2003, DOI: 10.1002/ajmg.a.10209

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    American founder mutation for Lynch syndrome

    Cancer

    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

    Version of Record online : 13 DEC 2005, DOI: 10.1002/cncr.21624

  13. 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

    Version of Record online : 23 MAY 2005, DOI: 10.1111/j.1399-0004.2005.00469.x

  14. Mutation screening of the CDKN2A promoter in melanoma families

    Genes, Chromosomes and Cancer

    Volume 28, Issue 1, May 2000, Pages: 45–57, Mark Harland, Elizabeth A. Holland, Paola Ghiorzo, Michela Mantelli, Giovanna Bianchi-Scarrà, Alisa M. Goldstein, Margaret A. Tucker, Bruce A.J. Ponder, Graham J. Mann, D. Timothy Bishop and Julia Newton Bishop

    Version of Record online : 28 MAR 2000, DOI: 10.1002/(SICI)1098-2264(200005)28:1<45::AID-GCC6>3.0.CO;2-F

  15. Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility

    Clinical Endocrinology

    Volume 59, Issue 6, December 2003, Pages: 728–733, Dewi Astuti, Niki Hart-Holden, Farida Latif, Fiona Lalloo, Graeme C. Black, Caron Lim, Anthony Moran, Ashley B. Grossman, Shirley V. Hodgson, Anthony Freemont, Richard Ramsden, Charis Eng, D. Gareth R. Evans and Eamonn R. Maher

    Version of Record online : 20 NOV 2003, DOI: 10.1046/j.1365-2265.2003.01914.x

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    Characterization of ligurian melanoma families and risk of occurrence of other neoplasia

    International Journal of Cancer

    Volume 83, Issue 4, 12 November 1999, Pages: 441–448, Paola Ghiorzo, Paola Ciotti, Michela Mantelli, Abdelhamid Heouaine, Paola Queirolo, Maria Luisa Rainero, Carlo Ferrari, Pier Luigi Santi, Roberto De Marchi, Alessandro Farris, Franco Ajmar, Paolo Bruzzi and Giovanna Bianchi-Scarrà

    Version of Record online : 10 NOV 1999, DOI: 10.1002/(SICI)1097-0215(19991112)83:4<441::AID-IJC2>3.0.CO;2-R

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    Inherited and de novo von Willebrand disease ‘Vicenza’ in UK families with the R1205H mutation: diagnostic pitfalls and new insights

    British Journal of Haematology

    Volume 135, Issue 1, October 2006, Pages: 91–96, William A. Lester, Andrea M. Guilliatt, Gurcharan K. Surdhar, Said M. Enayat, Jonathan T. Wilde, Sara Willoughby, Pam Grundy, Anthony M. Cumming, Peter W. Collins and Frank G. H. Hill

    Version of Record online : 22 AUG 2006, DOI: 10.1111/j.1365-2141.2006.06251.x

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    Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma–pancreatic carcinoma–prone families

    Cancer

    Volume 94, Issue 1, 1 January 2002, Pages: 84–96, Henry T. Lynch, Randall E. Brand, David Hogg, Carolyn A. Deters, Ramon M. Fusaro, Jane F. Lynch, Ling Liu, Joseph Knezetic, Norman J. Lassam, Michael Goggins and Scott Kern

    Version of Record online : 28 DEC 2001, DOI: 10.1002/cncr.10159

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    Molecular genetics and hereditary cancer

    Cancer

    Volume 80, Issue S3, 1 August 1997, Pages: 533–536, Ramon Parsons

    Version of Record online : 19 NOV 2000, DOI: 10.1002/(SICI)1097-0142(19970801)80:3+<533::AID-CNCR2>3.0.CO;2-A

  20. Hereditary Pancreatitis and Pancreatic Carcinoma

    Annals of the New York Academy of Sciences

    Volume 880, Issue 1, June 1999, Pages: 201–209, DAVID C. WHITCOMB, SUZANNE APPLEBAUM and STEPHEN P. MARTIN

    Version of Record online : 6 FEB 2006, DOI: 10.1111/j.1749-6632.1999.tb09524.x