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There are 81038 results for: content related to: Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI)

  1. Detection of Mediterranean fever gene mutations in Egyptian children with inflammatory bowel disease

    International Journal of Rheumatic Diseases

    Samia Salah, Mortada El-Shabrawi, Hala Mohamed Lotfy, Hala Fathy Shiba, Maha Abou-Zekri and Yomna Farag

    Version of Record online : 8 OCT 2014, DOI: 10.1111/1756-185X.12482

  2. Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state

    American Journal of Medical Genetics

    Volume 102, Issue 3, 15 August 2001, Pages: 272–276, Anna Kogan, Yael Shinar, Merav Lidar, Ani Revivo, Pnina Langevitz, Shai Padeh, Mordechai Pras and Avi Livneh

    Version of Record online : 14 JUN 2001, DOI: 10.1002/ajmg.1438

  3. You have free access to this content
    Abstracts: Turkish Society of Molecular Medicine, Third International Congress of Molecular Medicine, May 5–8, 2009, Istanbul, Turkey

    IUBMB Life

    Volume 61, Issue 3, March 2009, Pages: 273–389, Prof. Dr. Turgay Isbir

    Version of Record online : 25 FEB 2009, DOI: 10.1002/iub.183

  4. Molecular Genetics of Familial Mediterranean Fever

    Standard Article

    eLS

    Levon Yepiskoposyan and Ashot Harutyunyan

    Published Online : 15 DEC 2008, DOI: 10.1002/9780470015902.a0021442

  5. Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 564–569, A. Šedivá, R. Horváth, V. Maňásek, A. Gregorová, P. Plevová, M. Horáčková, M. Tesařová, N. Toplak and M. Debeljak

    Version of Record online : 20 DEC 2013, DOI: 10.1111/cge.12323

  6. Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients

    Annals of Human Genetics

    Volume 79, Issue 1, January 2015, Pages: 20–27, Vassos Neocleous, Constantina Costi, Christina Kyriakou, Tassos C Kyriakides, Christos Shammas, Nicos Skordis, Meropi Toumba, Sophia Kyriakou, Maria Koliou, Marianna Kousparou, Margarita Onoufriou, Adamos Hadjipanayis, Michalis Iasonides, Vick N Atamyan, Alkis Pierides, Violetta Christophidou-Anastasiadou, George A Tanteles and Leonidas A Phylactou

    Version of Record online : 13 NOV 2014, DOI: 10.1111/ahg.12087

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    Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations

    Arthritis & Rheumatism

    Volume 48, Issue 8, August 2003, Pages: 2324–2331, Cécile Cazeneuve, Zaruhi Hovannesyan, David Geneviève, Hasmik Hayrapetyan, Stéphanie Papin, Emmanuelle Girodon-Boulandet, Brigitte Boissier, Josué Feingold, Karine Atayan, Tamara Sarkisian and Serge Amselem

    Version of Record online : 1 AUG 2003, DOI: 10.1002/art.11102

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    Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever

    Arthritis & Rheumatism

    Volume 46, Issue 10, October 2002, Pages: 2785–2793, Cécile Notarnicola, Marie-Noëlle Didelot, Isabelle Koné-Paut, Fabienne Seguret, Jacques Demaille and Isabelle Touitou

    Version of Record online : 16 OCT 2002, DOI: 10.1002/art.10575

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    Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease

    Clinical & Experimental Immunology

    Volume 179, Issue 3, March 2015, Pages: 392–397, F. Nonaka, K. Migita, Y. Jiuchi, T. Shimizu, M. Umeda, N. Iwamoto, K. Fujikawa, Y. Izumi, A. Mizokami, M. Nakashima, Y. Ueki, M. Yasunami, A. Kawakami and K. Eguchi

    Version of Record online : 16 FEB 2015, DOI: 10.1111/cei.12463

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    2015 ACR/ARHP Annual Meeting Abstract Supplement

    Arthritis & Rheumatology

    Volume 67, Issue S10, October 2015, Pages: 1–4046,

    Version of Record online : 5 NOV 2015, DOI: 10.1002/art.39448

  11. Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2629–2640, Mohammed Al-Owain, Hamad Al-Zaidan and Zuhair Al-Hassnan

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35551

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    The Fate of 12 Recessive Mutations in A Single Village

    Annals of Human Genetics

    Volume 71, Issue 2, March 2007, Pages: 202–208, J. Zlotogora, Y. Hujerat, S. Barges, S. A. Shalev and A. Chakravarti

    Version of Record online : 23 AUG 2006, DOI: 10.1111/j.1469-1809.2006.00308.x

  13. Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village

    American Journal of Medical Genetics

    Volume 92, Issue 5, 19 June 2000, Pages: 343–345, J. Zlotogora, S. Shalev, H. Habiballah and S. Barjes

    Version of Record online : 8 JUN 2000, DOI: 10.1002/1096-8628(20000619)92:5<343::AID-AJMG9>3.0.CO;2-I

  14. Gastrointestinal and Hepatic Manifestations of Specific Genetic Disorders

    Textbook of Gastroenterology

    Tadataka Yamada, Pages: 2672–2710, 2009

    Published Online : 17 FEB 2009, DOI: 10.1002/9781444303254.ch108

  15. A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin

    Paediatric and Perinatal Epidemiology

    Volume 29, Issue 4, July 2015, Pages: 351–359, Anna Gundlund, Anne Vinkel Hansen, Grete Skøtt Pedersen, Sarah Fredsted Villadsen, Laust Hvas Mortensen, Karen Brøndum-Nielsen and Anne-Marie Nybo Andersen

    Version of Record online : 13 MAY 2015, DOI: 10.1111/ppe.12195

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    Genetic heterogeneity in familial Mediterranean fever: Comment on the article by Cazeneuve et al

    Arthritis & Rheumatism

    Volume 50, Issue 4, April 2004, Page: 1355, Ahmet Gul

    Version of Record online : 5 APR 2004, DOI: 10.1002/art.20143

  17. Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of ‘intermediate risk’

    Clinical Genetics

    Volume 73, Issue 2, February 2008, Pages: 152–159, E Fragouli, E Eliopoulos, E Petraki, P Sidiropoulos, I Aksentijevich, E Galanakis, H Kritikos, A Repa, G Fragiadakis, DT Boumpas and GN Goulielmos

    Version of Record online : 30 DEC 2007, DOI: 10.1111/j.1399-0004.2007.00948.x

  18. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 622–629, Carolina Prando, Stéphanie Boisson-Dupuis, Audrey V. Grant, Xiao-Fei Kong, Jacinta Bustamante, Jacqueline Feinberg, Ariane Chapgier, Yoann Rose, Lucile Jannière, Elena Rizzardi, Qiuping Zhang, Catherine M. Shanahan, Louis Viollet, Stanislas Lyonnet, Laurent Abel, Ezia Maria Ruga and Jean-Laurent Casanova

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33291

  19. MEFV (FMF) Gene (Marenostrin, Pyrin)

    Standard Article

    Encyclopedia Of Molecular Medicine

    Isabelle Touitou

    Published Online : 15 JAN 2002, DOI: 10.1002/0471203076.emm0958

  20. Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

    American Journal of Human Biology

    Volume 28, Issue 2, March/April 2016, Pages: 171–180, Nizar Ben Halim, Sana Hsouna, Khaled Lasram, Insaf Rejeb, Asma Walha, Faten Talmoudi, Habib Messai, Ahlem Sabrine Ben Brick, Houyem Ouragini, Wafa Cherif, Majdi Nagara, Faten Ben Rhouma, Ibtissem Chouchene, Farah Ouechtati, Yosra Bouyacoub, Mariem Ben Rekaya, Olfa Messaoud, Slim Ben Ammar, Leila El Matri, Neji Tebib, Marie F. Ben Dridi, Mourad Mokni, Ahlem Amouri, Rym Kefi and Sonia Abdelhak

    Version of Record online : 16 JUL 2015, DOI: 10.1002/ajhb.22764