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There are 27512 results for: content related to: Gonadal mosaicism as a rare cause of autosomal recessive inheritance

  1. 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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    Genome-wide autozygosity mapping in human populations

    Genetic Epidemiology

    Volume 33, Issue 2, February 2009, Pages: 172–180, Shuang Wang, Chad Haynes, Francis Barany and Jurg Ott

    Version of Record online : 22 SEP 2008, DOI: 10.1002/gepi.20344

  3. You have full text access to this OnlineOpen article
    Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 823–830, Christopher M. Watson, Laura A. Crinnion, Juliana Gurgel-Gianetti, Sally M. Harrison, Catherine Daly, Agne Antanavicuite, Carolina Lascelles, Alexander F. Markham, Sergio D. J. Pena, David T. Bonthron and Ian M. Carr

    Version of Record online : 22 JUL 2015, DOI: 10.1002/humu.22818

  4. Analysis of runs of homozygosity and their relationship with inbreeding in five cattle breeds farmed in Italy

    Animal Genetics

    Volume 46, Issue 2, April 2015, Pages: 110–121, Gabriele Marras, Giustino Gaspa, Silvia Sorbolini, Corrado Dimauro, Paolo Ajmone-Marsan, Alessio Valentini, John L. Williams and Nicolò P. P. Macciotta

    Version of Record online : 22 DEC 2014, DOI: 10.1111/age.12259

  5. Computation of multilocus prior probability of autozygosity for complex inbred pedigrees

    Genetic Epidemiology

    Volume 14, Issue 1, 1997, Pages: 1–15, Sun-Wei Guo

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1098-2272(1997)14:1<1::AID-GEPI1>3.0.CO;2-C

  6. 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

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    Runs of homozygosity: current knowledge and applications in livestock

    Animal Genetics

    E. Peripolli, D. P. Munari, M. V. G. B. Silva, A. L. F. Lima, R. Irgang and F. Baldi

    Version of Record online : 1 DEC 2016, DOI: 10.1111/age.12526

  8. Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees

    Unit

    Current Protocols in Human Genetics

    6:6.12.1–6.12.13

    Fowzan S. Alkuraya

    Published Online : 1 OCT 2012, DOI: 10.1002/0471142905.hg0612s75

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    Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders

    Human Mutation

    Volume 30, Issue 12, December 2009, Pages: 1642–1649, Ian M. Carr, Katarzyna Szymanska, Eamonn Sheridan, Alexander F. Markham, David T. Bonthron and Colin A. Johnson

    Version of Record online : 14 AUG 2009, DOI: 10.1002/humu.21105

  10. 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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    IBDfinder and SNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

    Human Mutation

    Volume 30, Issue 6, June 2009, Pages: 960–967, Ian M. Carr, Eamonn Sheridan, Bruce E. Hayward, Alexander F. Markham and David T. Bonthron

    Version of Record online : 20 JAN 2009, DOI: 10.1002/humu.20974

  12. Effects of models with finite loci, selection, dominance, epistasis and linkage on inbreeding coefficients based on pedigree and genotypic information

    Journal of Animal Breeding and Genetics

    Volume 119, Issue 2, April 2002, Pages: 101–115, INO CURIK, JOHANN SÖLKNER and NIKOLA STIPIC

    Version of Record online : 29 APR 2002, DOI: 10.1046/j.1439-0388.2002.00329.x

  13. A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2485–2492, Mojgan Babanejad, Zohreh Fattahi, Niloofar Bazazzadegan, Carla Nishimura, Nicole Meyer, Nooshin Nikzat, Elahe Sohrabi, Amin Najmabadi, Peyman Jamali, Farkhonde Habibi, Richard J.H. Smith, Kimia Kahrizi and Hossein Najmabadi

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35572

  14. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

    Human Mutation

    Volume 27, Issue 10, October 2006, Pages: 1041–1046, Ian M. Carr, Kimberley J. Flintoff, Graham R. Taylor, Alexander F. Markham and David T. Bonthron

    Version of Record online : 28 AUG 2006, DOI: 10.1002/humu.20383

  15. Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 36–40, Nouran Adly, Amal Alhashem, Amer Ammari and Fowzan S. Alkuraya

    Version of Record online : 25 NOV 2013, DOI: 10.1002/humu.22477

  16. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 124–135, Annick Salzmann, Michel Guipponi, Peter J. Lyons, Lloyd D. Fricker, Matthew Sapio, Carmen Lambercy, Catherine Buresi, Bouchra Ouled Amar Bencheikh, Fatiha Lahjouji, Reda Ouazzani, Arielle Crespel, Denys Chaigne and Alain Malafosse

    Version of Record online : 31 OCT 2011, DOI: 10.1002/humu.21613

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    From a Single Whole Exome Read to Notions of Clinical Screening: Primary Ciliary Dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula

    Annals of Human Genetics

    Volume 76, Issue 3, May 2012, Pages: 211–220, Muslim M. AlSaadi, Tom R. Gaunt, Christopher R. Boustred, Philip A. I. Guthrie, Xuan Liu, Luca Lenzi, Lucille Rainbow, Neil Hall, Khalid K. Alharbi and Ian N. M. Day

    Version of Record online : 2 MAR 2012, DOI: 10.1111/j.1469-1809.2012.00704.x

  18. Estimates of autozygosity derived from runs of homozygosity: empirical evidence from selected cattle populations

    Journal of Animal Breeding and Genetics

    Volume 130, Issue 4, August 2013, Pages: 286–293, M. Ferenčaković, E. Hamzić, B. Gredler, T.R. Solberg, G. Klemetsdal, I. Curik and J. Sölkner

    Version of Record online : 31 OCT 2012, DOI: 10.1111/jbg.12012

  19. Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 23, 1 December 2008, Pages: 3034–3037, William G. Newman, Jill Clayton-Smith, Kay Metcalfe, Rachel Cole, Marco Tartaglia, Francesco Brancati, Sara Morara, Antonio Novelli, Xiangdong Liu, Katherine A. Siminovitch, Stefan Mundlos, May Tassabehji and Graeme C.M. Black

    Version of Record online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32564

  20. You have full text access to this OnlineOpen article
    A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2577–2582, Alistair T. Pagnamenta, Jennie E. Murray, Grace Yoon, Elham Sadighi Akha, Victoria Harrison, Louise S. Bicknell, Kaseem Ajilogba, Helen Stewart, Usha Kini, Jenny C. Taylor, David A. Keays, Andrew P. Jackson and Samantha J.L. Knight

    Version of Record online : 10 AUG 2012, DOI: 10.1002/ajmg.a.35558