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There are 8456 results for: content related to: Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy

  1. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort

    American Journal of Medical Genetics Part A

    Volume 170, Issue 11, November 2016, Pages: 2943–2955, Kyle J. Steinman, Sarah J. Spence, Melissa B. Ramocki, Monica B. Proud, Sudha K. Kessler, Elysa J. Marco, LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, Wendy K. Chung, Elliott H. Sherr and on behalf of the Simons VIP Consortium

    Version of Record online : 13 JUL 2016, DOI: 10.1002/ajmg.a.37820

  2. Etiologies of uterine malformations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2141–2172, Adeline Jacquinet, Debra Millar and Anna Lehman

    Version of Record online : 8 JUN 2016, DOI: 10.1002/ajmg.a.37775

  3. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1118–1126, Hussam Al-Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K. Grange, Joseph Shen, Christopher D. Smyser, Shashikant Kulkarni and Marwan Shinawi

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36401

  4. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2003–2012, Isabel Filges, Steven Sparagana, Michael Sargent, Kathryn Selby, Kamilla Schlade-Bartusiak, Gregg T. Lueder, Amy Robichaux-Viehoever, Bradley L. Schlaggar, Joshua S. Shimony and Marwan Shinawi

    Version of Record online : 28 MAY 2014, DOI: 10.1002/ajmg.a.36605

  5. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1950–1960, Elena Vallespín, María Palomares Bralo, M. Ángeles Mori, Rubén Martín, Sixto García-Miñaúr, Luis Fernández, M. Luisa de Torres, Fe García-Santiago, Elena Mansilla, Fernando Santos, Victoria E. M-Montaño, M. Carmen Crespo, Sol Martín, Victor Martínez-Glez, Alicia Delicado, Pablo Lapunzina and Julián Nevado

    Version of Record online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960

  6. Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 535–541, Jacqueline R. Batanian, Stephen R. Braddock, Katherine Christensen and Alan P. Knutsen

    Version of Record online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36305

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    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Version of Record online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  8. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1666–1674, Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

  9. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  10. Genetic advances in craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1406–1429, Wanda Lattanzi, Marta Barba, Lorena Di Pietro and Simeon A. Boyadjiev

    Version of Record online : 4 FEB 2017, DOI: 10.1002/ajmg.a.38159

  11. Elements of morphology: Standard terminology for the external genitalia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1238–1263, Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

    Version of Record online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  12. Behavioral characteristics associated with 19p13.2 microdeletions

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2334–2343, Alice Welham, Bursharan Barth, Joanna Moss, Jessica Penhallow, Krupa Sheth, Lucy Wilde, Sarah Wynn and Chris Oliver

    Version of Record online : 16 JUL 2015, DOI: 10.1002/ajmg.a.37180

  13. Development of the human aortic arch system captured in an interactive three-dimensional reference model

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1372–1383, M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  14. Tentative clinical diagnosis of Lujan-Fryns syndrome—A conglomeration of different genetic entities?

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 94–102, Karl Hackmann, Andreas Rump, Stefan A. Haas, Johannes R. Lemke, Jean-Pierre Fryns, Andreas Tzschach, Dagmar Wieczorek, Beate Albrecht, Alma Kuechler, Tim Ripperger, Albrecht Kobelt, Konrad Oexle, Sigrid Tinschert, Evelin Schrock, Vera M. Kalscheuer and Nataliya Di Donato

    Version of Record online : 11 SEP 2015, DOI: 10.1002/ajmg.a.37378

  15. Development of the human heart

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1347–1371, Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  16. Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

    American Journal of Medical Genetics Part A

    Volume 173, Issue 4, April 2017, Pages: 1017–1037, Tim Ripperger, Stefan S. Bielack, Arndt Borkhardt, Ines B. Brecht, Birgit Burkhardt, Gabriele Calaminus, Klaus-Michael Debatin, Hedwig Deubzer, Uta Dirksen, Cornelia Eckert, Angelika Eggert, Miriam Erlacher, Gudrun Fleischhack, Michael C. Frühwald, Astrid Gnekow, Gudrun Goehring, Norbert Graf, Helmut Hanenberg, Julia Hauer, Barbara Hero, Simone Hettmer, Katja von Hoff, Martin Horstmann, Juliane Hoyer, Thomas Illig, Peter Kaatsch, Roland Kappler, Kornelius Kerl, Thomas Klingebiel, Udo Kontny, Uwe Kordes, Dieter Körholz, Ewa Koscielniak, Christof M. Kramm, Michaela Kuhlen, Andreas E. Kulozik, Britta Lamottke, Ivo Leuschner, Dietmar R. Lohmann, Andrea Meinhardt, Markus Metzler, Lüder H. Meyer, Olga Moser, Michaela Nathrath, Charlotte M. Niemeyer, Rainer Nustede, Kristian W. Pajtler, Claudia Paret, Mareike Rasche, Dirk Reinhardt, Olaf Rieß, Alexandra Russo, Stefan Rutkowski, Brigitte Schlegelberger, Dominik Schneider, Reinhard Schneppenheim, Martin Schrappe, Christopher Schroeder, Dietrich von Schweinitz, Thorsten Simon, Monika Sparber-Sauer, Claudia Spix, Martin Stanulla, Doris Steinemann, Brigitte Strahm, Petra Temming, Kathrin Thomay, Andre O. von Bueren, Peter Vorwerk, Olaf Witt, Marcin Wlodarski, Willy Wössmann, Martin Zenker, Stefanie Zimmermann, Stefan M. Pfister and Christian P. Kratz

    Version of Record online : 7 FEB 2017, DOI: 10.1002/ajmg.a.38142

  17. A clinical study of patients with pericentromeric deletion and duplication within 16p12.2–p11.2

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 213–219, Nobuhiko Okamoto, Tatsuya Fujii, Junko Tanaka, Kazumasa Saito, Takeshi Matsui and Naoki Harada

    Version of Record online : 20 NOV 2013, DOI: 10.1002/ajmg.a.36217

  18. Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene

    American Journal of Medical Genetics Part A

    Volume 173, Issue 8, August 2017, Pages: 2284–2288, Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo and Qun Fang

    Version of Record online : 24 MAY 2017, DOI: 10.1002/ajmg.a.38284

  19. Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P)

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 965–972, Azeez Butali, Satoshi Suzuki, Margaret E. Cooper, Adela M. Mansilla, Karen Cuenco, Elizabeth J. Leslie, Yasushi Suzuki, Teruyuki Niimi, Masahiko Yamamoto, Gongorjav Ayanga, Tudevdorj Erkhembaatar, Hiroo Furukawa, Kumiko Fujiwawa, Hideto Imura, Aline L. Petrin, Nagato Natsume, Terri H. Beaty, Mary L. Marazita and Jeffery C. Murray

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35749

  20. Review of familial cerebral cavernous malformations and report of seven additional families

    American Journal of Medical Genetics Part A

    Volume 173, Issue 2, February 2017, Pages: 338–351, Ivo J. H. M. de Vos, Maaike Vreeburg, Ger H. Koek and Maurice A. M. van Steensel

    Version of Record online : 28 OCT 2016, DOI: 10.1002/ajmg.a.38028