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There are 3774 results for: content related to: Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly

  1. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1833–1852, Cynthia J. Curry, Jill A. Rosenfeld, Erica Grant, Karen W. Gripp, Carol Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, Michelle Falco, Christina Fels, Marco Fichera, Jesper Graakjaer, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene Huggins, Roger Ladda, Chumei Li, John Moeschler, Malgorzata J.M. Nowaczyk, Jillian R. Ozmore, Santina Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark Tarnopolsky, Raymond Tervo, Anne Chun-Hui Tsai, Megan Tucker, Stephanie Vallee, Ferrin C Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer and William B. Dobyns

    Article first published online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

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    CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 563–578, Brigitte C. Widemann, Maria T. Acosta, Sylvia Ammoun, Allan J. Belzberg, Andre Bernards, Jaishri Blakeley, Antony Bretscher, Karen Cichowski, D. Wade Clapp, Eva Dombi, Gareth D. Evans, Rosalie Ferner, Cristina Fernandez-Valle, Michael J. Fisher, Marco Giovannini, David H. Gutmann, C. Oliver Hanemann, Robert Hennigan, Susan Huson, David Ingram, Joe Kissil, Bruce R. Korf, Eric Legius, Roger J. Packer, Andrea I McClatchey, Frank McCormick, Kathryn North, Minja Pehrsson, Scott R. Plotkin, Vijaya Ramesh, Nancy Ratner, Susann Schirmer, Larry Sherman, Elizabeth Schorry, David Stevenson, Douglas R. Stewart, Nicole Ullrich, Annette C. Bakker and Helen Morrison

    Article first published online : 17 JAN 2014, DOI: 10.1002/ajmg.a.36312

  3. 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

    Article first published online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960

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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

    Article first published online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  5. Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 4, June 2014, Pages: 303–313, Abdul Noor, Anath C. Lionel, Sarah Cohen-Woods, Narges Moghimi, James Rucker, Alanna Fennell, Bhooma Thiruvahindrapuram, Liana Kaufman, Bryan Degagne, John Wei, Sagar V. Parikh, Pierandrea Muglia, Julia Forte, Stephen W. Scherer, James L. Kennedy, Wei Xu, Peter McGuffin, Anne Farmer, John Strauss and John B. Vincent

    Article first published online : 3 APR 2014, DOI: 10.1002/ajmg.b.32232

  6. 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

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

  7. A genome-wide linkage scan of bipolar disorder in Latino families identifies susceptibility loci at 8q24 and 14q32

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 6, September 2014, Pages: 479–491, Suzanne Gonzalez, Cynthia Camarillo, Marco Rodriguez, Mercedes Ramirez, Juan Zavala, Regina Armas, Salvador A. Contreras, Javier Contreras, Albana Dassori, Laura Almasy, Deborah Flores, Alvaro Jerez, Henriette Raventós, Alfonso Ontiveros, Humberto Nicolini and Michael Escamilla

    Article first published online : 17 JUL 2014, DOI: 10.1002/ajmg.b.32251

  8. Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 2, May 2013, Pages: 92–105, EDOUARD COTTEREAU, ISABELLE MORTEMOUSQUE, MARIE-PIERRE MOIZARD, LYDIE BÜRGLEN, DIDIER LACOMBE, BRIGITTE GILBERT-DUSSARDIER, SABINE SIGAUDY, ODILE BOUTE, ALBERT DAVID, LAURENCE FAIVRE, JEANNE AMIEL, ROBERT ROBERTSON, FABIANA VIANA RAMOS, ERIC BIETH, SYLVIE ODENT, BÉNÉDICTE DEMEER, MICHÉLE MATHIEU, DOMINIQUE GAILLARD, LIONEL VAN MALDERGEM, GENEVIÉVE BAUJAT, ISABELLE MAYSTADT, DELPHINE HÉRON, ALAIN VERLOES, NICOLE PHILIP, VALÉRIE CORMIER-DAIRE, MARIE-FRANÇOISE FROUTÉ, LUCILE PINSON, PATRICIA BLANCHET, PIERRE SARDA, MARJOLAINE WILLEMS, ADELINE JACQUINET, ILHAM RATBI, JENNEKE VAN DEN ENDE, MARYLIN LACKMY-PORT LIS, ALICE GOLDENBERG, DOMINIQUE BONNEAU, SYLVIE ROSSIGNOL and ANNICK TOUTAIN

    Article first published online : 18 APR 2013, DOI: 10.1002/ajmg.c.31360

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    Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: A genome-wide association and polygenic scoring study

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 5, July 2014, Pages: 428–437, Niamh Mullins, Nader Perroud, Rudolf Uher, Amy W. Butler, Sarah Cohen-Woods, Margarita Rivera, Karim Malki, Jack Euesden, Robert A. Power, Katherine E. Tansey, Lisa Jones, Ian Jones, Nick Craddock, Michael J. Owen, Ania Korszun, Michael Gill, Ole Mors, Martin Preisig, Wolfgang Maier, Marcella Rietschel, John P. Rice, Bertram Müller-Myhsok, Elisabeth B. Binder, Susanne Lucae, Marcus Ising, Ian W. Craig, Anne E. Farmer, Peter McGuffin, Gerome Breen and Cathryn M. Lewis

    Article first published online : 25 JUN 2014, DOI: 10.1002/ajmg.b.32247

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    Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1221–1237, Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi-Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35933

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    Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1713–1733, Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E.R. Parker, Cathy Blumhorst, Thomas Darling, Laura L. Tosi, Susan M. Huson, Richard W. Whitehouse, Eveliina Jakkula, Ian Grant, Meena Balasubramanian, Kate E. Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin Clark, Elizabeth A. Sellars, Loren DM Pena, Vidya Krishnamurty, Andrew Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasic, John M. Graham Jr., Joseph Geer Jr., Alex Henderson, Robert K. Semple and Leslie G. Biesecker

    Article first published online : 29 APR 2014, DOI: 10.1002/ajmg.a.36552

  12. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1354–1369, José A. Caparrós-Martin, María Valencia, Veronica Pulido, Victor Martínez-Glez, Inmaculada Rueda-Arenas, Khalda Amr, Chantal Farra, Pablo Lapunzina, Victor L. Ruiz-Perez, Samia Temtamy and Mona Aglan

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35938

  13. Genetic variation at the CELF1 (CUGBP, elav-like family member 1 gene) locus is genome-wide associated with Alzheimer's disease and obesity

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 4, June 2014, Pages: 283–293, Anke Hinney, Özgür Albayrak, Jochen Antel, Anna-Lena Volckmar, Rebecca Sims, Jade Chapman, Denise Harold, Amy Gerrish, Iris M. Heid, Thomas W. Winkler, André Scherag, Jens Wiltfang, Julie Williams, Johannes Hebebrand, GERAD Consortium, IGAP Consortium and GIANT Consortium

    Article first published online : 1 MAY 2014, DOI: 10.1002/ajmg.b.32234

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    MLL2 and KDM6A mutations in patients with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2234–2243, Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun-Ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko-Ichiro Yoshiura, Naomichi Matsumoto and Norio Niikawa

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

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    Genome-wide significant localization for working and spatial memory: Identifying genes for psychosis using models of cognition

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 1, January 2014, Pages: 84–95, Emma E.M. Knowles, Melanie A. Carless, Marcio A.A. de Almeida, Joanne E. Curran, D. Reese McKay, Emma Sprooten, Thomas D. Dyer, Harald H. Göring, Rene Olvera, Peter Fox, Laura Almasy, Ravi Duggirala, Jack W. Kent Jr., John Blangero and David. C. Glahn

    Article first published online : 14 NOV 2013, DOI: 10.1002/ajmg.b.32211

  16. Novel QTL at chromosome 6p22 for alcohol consumption: Implications for the genetic liability of alcohol use disorders

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 165, Issue 4, June 2014, Pages: 294–302, Mark Z. Kos, David C. Glahn, Melanie A. Carless, Rene Olvera, D. Reese McKay, Ellen E. Quillen, Joel Gelernter, Xiang-Ding Chen, Hong-Wen Deng, Jack W. Kent, Thomas D. Dyer, Harald H.H. Göring, Joanne E. Curran, Ravi Duggirala, John Blangero and Laura Almasy

    Article first published online : 1 APR 2014, DOI: 10.1002/ajmg.b.32231

  17. Delineation of a region responsible for panhypopituitarism in 20p11.2

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1547–1554, Manal Dayem-Quere, Fabienne Giuliano, Kathy Wagner-Mahler, Christophe Massol, Letizia Crouzet-Ozenda, Jean-Claude Lambert and Houda Karmous-Benailly

    Article first published online : 8 MAY 2013, DOI: 10.1002/ajmg.a.35921

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    Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2972–2980, Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valerie Cormier-Daire, Tom Cushing, Frances Flinter, Marie-Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, Childhood Overgrowth Consortium and Nazneen Rahman

    Article first published online : 8 NOV 2013, DOI: 10.1002/ajmg.a.36229

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    CHARGE-like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2557–2566, Tara L. Wenger, Margaret Harr, Stefania Ricciardi, Elizabeth Bhoj, Avni Santani, Margaret P. Adam, Sarah S. Barnett, Rebecca Ganetzky, Donna M. McDonald-McGinn, Domenica Battaglia, Stefania Bigoni, Angelo Selicorni, Giovanni Sorge, Matteo Della Monica, Francesca Mari, Elena Andreucci, Silvia Romano, Guido Cocchi, Salvatore Savasta, Baris Malbora, Giuseppe Marangi, Livia Garavelli, Marcella Zollino and Elaine H. Zackai

    Article first published online : 14 AUG 2014, DOI: 10.1002/ajmg.a.36696

  20. Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 4, November 2013, Pages: 259–270, T. Roscioli, G. Elakis, T.C. Cox, D.J. Moon, H. Venselaar, A.M. Turner, T. Le, E. Hackett, E. Haan, A. Colley, D. Mowat, L. Worgan, E.P. Kirk, R. Sachdev, E. Thompson, M. Gabbett, J. McGaughran, K. Gibson, M. Gattas, M-L. Freckmann, J. Dixon, L. Hoefsloot, M. Field, A. Hackett, B. Kamien, M. Edwards, L.C. Adès, F.A. Collins, M.J. Wilson, R. Savarirayan, T.Y. Tan, D.J. Amor, G. McGIllivray, S.M. White, I.A. Glass, D.J. David, P.J. Anderson, M. Gianoutsos and M.F. Buckley

    Article first published online : 11 OCT 2013, DOI: 10.1002/ajmg.c.31378