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There are 1889354 results for: content related to: Nutrient intakes in women and risks of anophthalmia and microphthalmia in their offspring

  1. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989–1997

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 1, 15 August 2005, Pages: 36–40, Gary M. Shaw, Suzan L. Carmichael, Wei Yang, John A. Harris, Richard H. Finnell and Edward J. Lammer

    Version of Record online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30840

  2. Associated malformations among infants with anophthalmia and microphthalmia

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 94, Issue 3, March 2012, Pages: 147–152, Claude Stoll, Beatrice Dott, Yves Alembik and Marie-Paule Roth

    Version of Record online : 13 JAN 2012, DOI: 10.1002/bdra.22877

  3. Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986–2001

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 76, Issue 3, March 2006, Pages: 187–192, Mathias B. Forrester and Ruth D. Merz

    Version of Record online : 23 FEB 2006, DOI: 10.1002/bdra.20237

  4. Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2706–2715, Adele Schneider, Tanya Bardakjian, Linda M. Reis, Rebecca C. Tyler and Elena V. Semina

    Version of Record online : 16 NOV 2009, DOI: 10.1002/ajmg.a.33098

  5. Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2794–2798, Adele Schneider, Tanya M. Bardakjian, Jie Zhou, Nkecha Hughes, Rosanne Keep, Darnelle Dorsainville, Femida Kherani, James Katowitz, Lisa A. Schimmenti, Marybeth Hummel, David R. FitzPatrick and Terri L. Young

    Version of Record online : 1 OCT 2008, DOI: 10.1002/ajmg.a.32384

  6. SOX2 anophthalmia syndrome

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 1, 15 May 2005, Pages: 1–7, Nicola K. Ragge, Birgit Lorenz, Adele Schneider, Kate Bushby, Luisa de Sanctis, Ugo de Sanctis, Alison Salt, J. Richard O. Collin, Anthony J. Vivian, Samantha L. Free, Pamela Thompson, Kathleen A. Williamson, Sanjay M. Sisodiya, Veronica van Heyningen and David R. FitzPatrick

    Version of Record online : 5 APR 2005, DOI: 10.1002/ajmg.a.30642

  7. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 12, 15 June 2007, Pages: 1268–1281, David Chitayat, Hana Sroka, Sarah Keating, Randall S. Colby, Greg Ryan, Ants Toi, Susan Blaser, Sandra Viero, Louise Devisme, Odile Boute-Bénéjean, Sylvie Manouvrier-Hanu, Geert Mortier, Bart Loeys, Anita Rauch and Pierre Bitoun

    Version of Record online : 15 MAY 2007, DOI: 10.1002/ajmg.a.31788

  8. 14q(22) deletion in a familial case of anophthalmia with polydactyly

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 1, 1 July 2003, Pages: 117–122, M.E. Ahmad, Rima Dada, Tanuj Dada and Kiran Kucheria

    Version of Record online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10146

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    Whole-genome copy number variation analysis in anophthalmia and microphthalmia

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 473–481, KF Schilter, LM Reis, A Schneider, TM Bardakjian, O Abdul-Rahman, BA Kozel, HH Zimmerman, U Broeckel and EV Semina

    Version of Record online : 17 JUN 2013, DOI: 10.1111/cge.12202

  10. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 244–250, N Chassaing, N Ragge, A Kariminejad, A Buffet, S Ghaderi-Sohi, J Martinovic and P Calvas

    Version of Record online : 4 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01904.x

  11. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 105, Issue 2, June 2015, Pages: 96–113, Linda M. Reis and Elena V. Semina

    Version of Record online : 3 JUN 2015, DOI: 10.1002/bdrc.21097

  12. Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

    American Journal of Medical Genetics

    Volume 75, Issue 5, 17 February 1998, Pages: 497–504, Eva Bermejo and María-Luisa Martínez-Frías

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980217)75:5<497::AID-AJMG8>3.0.CO;2-K

  13. Confirmation of RAX gene involvement in human anophthalmia

    Clinical Genetics

    Volume 74, Issue 4, October 2008, Pages: 392–395, L Lequeux, M Rio, A Vigouroux, M Titeux, H Etchevers, F Malecaze, N Chassaing and P Calvas

    Version of Record online : 9 SEP 2008, DOI: 10.1111/j.1399-0004.2008.01078.x

  14. Anophthalmia/Microphthalmia/Coloboma (MAC)

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    eLS

    Adele Schneider and Sarina Kopinsky

    Published Online : 20 MAR 2017, DOI: 10.1002/9780470015902.a0026852

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    Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

    Molecular Genetics & Genomic Medicine

    Volume 1, Issue 1, May 2013, Pages: 15–31, Christina Gerth-Kahlert, Kathleen Williamson, Morad Ansari, Jacqueline K. Rainger, Volker Hingst, Theodor Zimmermann, Stefani Tech, Rudolf F. Guthoff, Veronica van Heyningen and David R. FitzPatrick

    Version of Record online : 27 MAR 2013, DOI: 10.1002/mgg3.2

  16. Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 18, 15 September 2006, Pages: 1899–1903, Juan Carlos Zenteno, Hector J. Perez-Cano and Monica Aguinaga

    Version of Record online : 4 AUG 2006, DOI: 10.1002/ajmg.a.31384

  17. SOX2 anophthalmia syndrome and dental anomalies

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2830–2833, Oscar Francisco Chacon-Camacho, Bertha Irene Fuerte-Flores, Edgar F. Ricardez-Marcial and Juan Carlos Zenteno

    Version of Record online : 6 AUG 2015, DOI: 10.1002/ajmg.a.37277

  18. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 326–334, N. Chassaing, A. Causse, A. Vigouroux, A. Delahaye, J.-L. Alessandri, O. Boespflug-Tanguy, O. Boute-Benejean, H. Dollfus, B. Duban-Bedu, B. Gilbert-Dussardier, F. Giuliano, M. Gonzales, M. Holder-Espinasse, B. Isidor, M.-L. Jacquemont, D. Lacombe, D. Martin-Coignard, M. Mathieu-Dramard, S. Odent, O. Picone, L. Pinson, C. Quelin, S. Sigaudy, A. Toutain, C. Thauvin-Robinet, Josseline Kaplan and Patrick Calvas

    Version of Record online : 7 OCT 2013, DOI: 10.1111/cge.12275

  19. A family with X-linked anophthalmia: Exclusion of SOX3 as a candidate gene

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 2, 1 October 2005, Pages: 89–94, Anne Slavotinek, Stephen S. Lee and Steven P. Hamilton

    Version of Record online : 19 AUG 2005, DOI: 10.1002/ajmg.a.30872

  20. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1417–1426, Jillian Casey, Riki Kawaguchi, Maria Morrissey, Hui Sun, Paul McGettigan, Jens E. Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W. Morris, Peter Tormey, Muireann Ní Chróinín, Breandan N. Kennedy, SallyAnn Lynch, Andrew Green and Sean Ennis

    Version of Record online : 29 SEP 2011, DOI: 10.1002/humu.21590