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There are 32889 results for: content related to: Human Congenital Diseases with Mixed Modes of Inheritance Have a Shortage of Recessive Disease. A Demographic Scenario?

  1. 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

  2. Inbreeding in outport Newfoundland

    American Journal of Medical Genetics

    Volume 29, Issue 3, March 1988, Pages: 649–660, Dr. J. C. Bear, T. F. Nemec, J. C. Kennedy, W. H. Marshall, A. A. Power, V. M. Kolonel, G. B. Vurke, John M. Optiz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320290324

  3. An expected decrease in the incidence of autosomal recessive disease due to decreasing consanguineous marriages

    Genetic Epidemiology

    Volume 5, Issue 6, 1988, Pages: 421–432, Dr. Tomohiro Saito, G. P. Vogler and D. C. Rao

    Version of Record online : 3 JUN 2005, DOI: 10.1002/gepi.1370050606

  4. 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

  5. You have free access to this content
    Consequences of a screening programme on the prevalence of congenital hereditary sensorineural deafness in the Australian Cattle Dog

    Animal Genetics

    Volume 45, Issue 6, December 2014, Pages: 855–862, S. F. Sommerlad, J. M. Morton, I. Johnstone, C. A. O'Leary and J. M. Seddon

    Version of Record online : 6 OCT 2014, DOI: 10.1111/age.12224

  6. You have full text access to this OnlineOpen article
    Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

    Prenatal Diagnosis

    Volume 32, Issue 10, October 2012, Pages: 976–985, Lisa G. Shaffer, Mindy P. Dabell, Allan J. Fisher, Justine Coppinger, Anne M. Bandholz, Jay W. Ellison, J. Britt Ravnan, Beth S. Torchia, Blake C. Ballif and Jill A. Rosenfeld

    Version of Record online : 2 AUG 2012, DOI: 10.1002/pd.3945

  7. You have full text access to this OnlineOpen article
    Edgetic perturbation models of human inherited disorders

    Molecular Systems Biology

    Volume 5, Issue 1, 2009, Quan Zhong, Nicolas Simonis, Qian-Ru Li, Benoit Charloteaux, Fabien Heuze, Niels Klitgord, Stanley Tam, Haiyuan Yu, Kavitha Venkatesan, Danny Mou, Venus Swearingen, Muhammed A Yildirim, Han Yan, Amélie Dricot, David Szeto, Chenwei Lin, Tong Hao, Changyu Fan, Stuart Milstein, Denis Dupuy, Robert Brasseur, David E Hill, Michael E Cusick and Marc Vidal

    Version of Record online : 3 NOV 2009, DOI: 10.1038/msb.2009.80

  8. Frequencies of complex diseases in hybrid populations

    American Journal of Physical Anthropology

    Volume 70, Issue 4, August 1986, Pages: 489–503, Ranajit Chakraborty and Kenneth M. Weiss

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajpa.1330700408

  9. Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype

    Human Mutation

    Volume 36, Issue 3, March 2015, Pages: 327–332, Tatehiro Kagawa, Akira Oka, Yoshinao Kobayashi, Yoichi Hiasa, Tsuneo Kitamura, Hiroshi Sakugawa, Yukihiko Adachi, Kazuya Anzai, Kota Tsuruya, Yoshitaka Arase, Shunji Hirose, Koichi Shiraishi, Takashi Shiina, Tadayuki Sato, Ting Wang, Masayuki Tanaka, Hideki Hayashi, Noboru Kawabe, Peter N. Robinson, Tomasz Zemojtel and Tetsuya Mine

    Version of Record online : 13 MAR 2015, DOI: 10.1002/humu.22745

  10. Autozygosity Mapping with Exome Sequence Data

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 50–56, Ian M. Carr, Sanjeev Bhaskar, James O’ Sullivan, Mohammed A. Aldahmesh, Hanan E. Shamseldin, Alexander F. Markham, David T. Bonthron, Graeme Black and Fowzan S. Alkuraya

    Version of Record online : 22 OCT 2012, DOI: 10.1002/humu.22220

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    Pathogenic or not? Assessing the clinical relevance of copy number variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 415–421, JY Hehir-Kwa, R Pfundt, JA Veltman and N de Leeuw

    Version of Record online : 21 AUG 2013, DOI: 10.1111/cge.12242

  12. Sequencing: the next generation. Moving beyond population-based recessive disease carrier screening

    Clinical Genetics

    Volume 80, Issue 1, July 2011, Pages: 25–26, CE Kobelka

    Version of Record online : 25 APR 2011, DOI: 10.1111/j.1399-0004.2011.01677.x

  13. Predicting recurrence risks under epistatic models

    American Journal of Medical Genetics

    Volume 28, Issue 3, November 1987, Pages: 631–645, Dr. T. H. Beaty, N. E. Maestri, D. A. Meyers, E. A. Murphy, John M. Opitz and James F. Reynolds

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320280311

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    A paralog of the MtN3/saliva family recessively confers race-specific resistance to Xanthomonas oryzae in rice

    Plant, Cell & Environment

    Volume 34, Issue 11, November 2011, Pages: 1958–1969, QINSONG LIU, MENG YUAN, YAN ZHOU, XIANGHUA LI, JINGHUA XIAO and SHIPING WANG

    Version of Record online : 28 JUL 2011, DOI: 10.1111/j.1365-3040.2011.02391.x

  15. Estimating parental relationship in linkage analysis of recessive traits

    American Journal of Medical Genetics

    Volume 63, Issue 2, 17 May 1996, Pages: 386–391, Chantal Mérette and Jurg Ott

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960517)63:2<386::AID-AJMG12>3.0.CO;2-G

  16. Clinical consequences of heterozygosity for autosomal-recessive diseases*,**

    Clinical Genetics

    Volume 25, Issue 5, May 1984, Pages: 381–415, F. Vogel

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1984.tb02009.x

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    Common bacterial toxins and physiological vulnerability to sudden infant death: the role of deleterious genetic mutations

    FEMS Immunology & Medical Microbiology

    Volume 42, Issue 1, September 2004, Pages: 42–47, J.A. Morris

    Version of Record online : 9 JAN 2006, DOI: 10.1016/j.femsim.2004.06.016

  18. Computing probabilities of homozygosity by descent

    Genetic Epidemiology

    Volume 16, Issue 2, 1999, Pages: 135–149, Alejandro A. Schäffer

    Version of Record online : 12 FEB 1999, DOI: 10.1002/(SICI)1098-2272(1999)16:2<135::AID-GEPI2>3.0.CO;2-W

  19. Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods

    Journal of Obstetric, Gynecologic, & Neonatal Nursing

    Volume 44, Issue 6, November/December 2015, Pages: 717–725, Jennifer J. Shiroff and Lynne S. Nemeth

    Version of Record online : 15 OCT 2015, DOI: 10.1111/1552-6909.12764

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    The Logistic Regression Model for Gene–Environment Interactions Using Both Case-Parent Trios and Unrelated Case–Controls

    Annals of Human Genetics

    Volume 78, Issue 4, July 2014, Pages: 299–305, Chao-Yu Guo, Yu-Jing Chen and Yi-Hau Chen

    Version of Record online : 26 APR 2014, DOI: 10.1111/ahg.12063