检索结果 - Adele Schneider

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  1. 1
    Novel <i>SOX2</i> mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

    Novel <i>SOX2</i> mutations and genotype–phenotype correlation in anophthalmia and microphthalmia 由 Adele Schneider, Tanya Bardakjian, Linda M. Reis, Rebecca C. Tyler, Elena V. Semina

    出版 2009
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  2. 2
    Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease

    Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease 由 Christopher M. Chou, Christine C. Nelson, Susan A. Tarlé, Jonathan T. Pribila, Tanya Bardakjian, Sean Woods, Adele Schneider, Tom Glaser

    出版 2015
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  3. 3
    ACMG position statement on prenatal/preconception expanded carrier screening

    ACMG position statement on prenatal/preconception expanded carrier screening 由 Wayne W. Grody, Barry H. Thompson, Anthony R. Gregg, Lora Bean, Kristin G. Monaghan, Adele Schneider, Roger V. Lebo

    出版 2013
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  4. 4
    Whole‐genome copy number variation analysis in anophthalmia and microphthalmia

    Whole‐genome copy number variation analysis in anophthalmia and microphthalmia 由 KF Schilter, Linda M. Reis, Adele Schneider, TM Bardakjian, Omar Abdul‐Rahman, BA Kozel, HH Zimmerman, Ulrich Broeckel, EV Semina

    出版 2013
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  5. 5
    Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

    Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis 由 Alex Choi, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Mayer Wasima, Tanya Bardakjian, Gary M. Shaw, Pui‐Yan Kwok, Adele Schneider, Anne Slavotinek

    出版 2014
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  6. 6
    <i>VAX1</i>mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a<i>VAX1</i>phenotype in humans

    <i>VAX1</i>mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a<i>VAX1</i>phenotype in humans 由 Anne Slavotinek, Ryan Chao, Tomáš Vacı́k, Mani Yavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary M. Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef, Daniel F. Schorderet

    出版 2011
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  7. 7
    Role of<i>SOX2</i>Mutations in Human Hippocampal Malformations and Epilepsy

    Role of<i>SOX2</i>Mutations in Human Hippocampal Malformations and Epilepsy 由 Sanjay M. Sisodiya, Nicola Ragge, Gianpiero L. Cavalleri, Ann Hever, Birgit Lorenz, Adele Schneider, Kathleen A. Williamson, John Stevens, S. L. Free, Pamela J. Thompson, Veronica van Heyningen, David Fitzpatrick

    出版 2006
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  8. 8
    ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

    ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm 由 Mani Yavi, Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Tong Xiao, Tanya Bardakjian, Adele Schneider, Alex Choi, Eric Jorgenson, Herwig Baier, Mohamad El Sada, Daniel F. Schorderet, Anne Slavotinek

    出版 2013
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  9. 9
    BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

    BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome 由 Linda M. Reis, Rebecca C. Tyler, Kala F. Schilter, Omar Abdul‐Rahman, Jeffrey W. Innis, Beth A. Kozel, Adele Schneider, Tanya Bardakjian, Edward J. Lose, Donna M. Martin, Ulrich Broeckel, Elena V. Semina

    出版 2011
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  10. 10
    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome 由 Kathleen A. Williamson, Ann Hever, Joe Rainger, R. Curtis Rogers, Alex Magee, Z Fiedler, Wee Teik Keng, Freddie H. Sharkey, Niolette I. McGill, Clare J. Hill, Adele Schneider, Mario Messina, Peter D. Turnpenny, Judy Fantes, Veronica van Heyningen, David Fitzpatrick

    出版 2006
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  11. 11
    Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

    Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR 由 David Ng, Nalin Thakker, Connie M. Corcoran, Dian Donnai, Rahat Perveen, Adele Schneider, Donald W. Hadley, Cynthia J. Tifft, Liqun Zhang, Andrew O.M. Wilkie, Jasper J. van der Smagt, Robert J. Gorlin, Shawn M. Burgess, Vivian J. Bardwell, Graeme Black, Leslie G. Biesecker

    出版 2004
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  12. 12
    NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

    NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage 由 Christiane Messaed, Wafaa Chebaro, Raphaël B. Di Roberto, Cécile Rittore, Any Cheung, Jocelyne Arseneau, Adele Schneider, M. F. Chen, K. Bernishke, Urvashi Surti, Lori Hoffner, Philippe Sauthier, William Buckett, Jiang Qian, N. M. Lau, Rashmi Bagga, James C. Engert, P. Coullin, Isabelle Touitou, Rima Slim

    出版 2011
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  13. 13
    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment

    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment 由 Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen, Sébastien Levesque, Marie-Ange Delrue, Troy A. Becker, Fadi F. Hamdan, Zoha Kibar, Shannon G. Sattler, Michael C. Schneider, Pierre Bitoun, Nicolas Chassaing, Jill A. Rosenfeld, Fan Xia, Sonal Desai, Elizabeth Roeder, Virginia Kimonis, Adele Schneider, Rebecca O. Littlejohn, Sofia Douzgou, André Tremblay, Jacques L. Michaud

    出版 2016
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  14. 14
    Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

    Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects 由 Anne Slavotinek, Sarah Garcia, Gemma Chandratillake, Tanya Bardakjian, Ehsan Ullah, Di Wu, Kaoru Umeda, R. Lao, Paul Ling-Fung Tang, Eunice Wan, Lohith Madireddy, Svetlana Lyalina, Bryce A. Mendelsohn, Shannon Dugan, Jeanie Tirch, R. Tischler, Jason Harris, Michael J. Clark, Stephen A. Chervitz, A. Patwardhan, John West, Philip C. Ursell, Alejandra de Alba Campomanes, Adele Schneider, Pui‐Yan Kwok, Sergio E. Baranzini, R.O. Chen

    出版 2014
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  15. 15
    Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice 由 Joe Rainger, Ellen van Beusekom, Jacqueline Ramsay, Lisa McKie, Lihadh Al‐Gazali, R Pallotta, Anita Saponari, Peter Branney, Malcolm E Fisher, Harris Morrison, Louise S. Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya Bardakjian, Adele Schneider, Nursel Elcioğlu, Ferda Özkınay, Rainer Koenig, André Mégarbané, C. Nur Semerci, Ayesha Khan, Saemah Nuzhat Zafar, Raoul C. M. Hennekam, Sérgio B. Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J. Jackson, Gabriele Gillessen‐Kaesbach, Han G. Brunner, Dagmar Wieczorek, Hans van Bokhoven, David Fitzpatrick

    出版 2011
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  16. 16
    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i>

    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> 由 Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke

    出版 2012
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