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There are 5034 results for: content related to: Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX 7 and VAX 1 in the Etiology of Nonsyndromic CL(P)

  1. 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

  2. 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

  3. You have full text access to this OnlineOpen article
    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

  4. 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

  5. You have free access to this content
    The sax1 dwarf mutant of Arabidopsis thaliana shows altered sensitivity of growth responses to abscisic acid, auxin, gibberellins and ethylene and is partially rescued by exogenous brassinosteroid

    The Plant Journal

    Volume 18, Issue 3, May 1999, Pages: 303–314, Geneviève Ephritikhine, Martin Fellner, Candida Vannini, Danielle Lapous and Hélène Barbier-Brygoo

    Article first published online : 5 JAN 2002, DOI: 10.1046/j.1365-313X.1999.00454.x

  6. Pax1EGFP: New wildtype and mutant EGFP mouse lines for molecular and fate mapping studies

    genesis

    Volume 51, Issue 6, June 2013, Pages: 420–429, V. Sivakamasundari, Petra Kraus, Song Jie and Thomas Lufkin

    Article first published online : 25 FEB 2013, DOI: 10.1002/dvg.22379

  7. 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

  8. Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1345–1353, Kelly N. Evans, Joseph S. Gruss, Paritosh C. Khanna, Michael L. Cunningham, Timothy C. Cox and Anne V. Hing

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

  9. You have free access to this content
    HAX1 deficiency: Impact on lymphopoiesis and B-cell development

    European Journal of Immunology

    Volume 40, Issue 11, November 2010, Pages: 3161–3172, Doris Peckl-Schmid, Susanne Wolkerstorfer, Sebastian Königsberger, Gertrude Achatz-Straussberger, Stefan Feichtner, Elisabeth Schwaiger, Nadja Zaborsky, Michael Huemer, Iris K. Gratz, Roger Schibli, Marinus Lamers, Reto Crameri, Katrin Moser, Elke O Luger and Gernot Achatz

    Article first published online : 24 SEP 2010, DOI: 10.1002/eji.200940221

  10. Preferential Associated Anomalies in 818 Cases of Microtia in South America

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1051–1057, Daniela V. Luquetti, Timothy C. Cox, Jorge Lopez-Camelo, Maria da Graça Dutra, Michael L. Cunningham and Eduardo E. Castilla

    Article first published online : 29 MAR 2013, DOI: 10.1002/ajmg.a.35888

  11. Simpson–Golabi–Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the GPC3 Gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1091–1095, Dr. María Elena Mateos, Katrin Beyer, Eduardo López-Laso, Juan López Siles, Juan Luis Pérez-Navero, María José Peña, Juana Guzmán and Juliana Matas

    Article first published online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35738

  12. Impacts of light and temperature on shoot branching gradient and expression of strigolactone synthesis and signalling genes in rose

    Plant, Cell & Environment

    Volume 37, Issue 3, March 2014, Pages: 742–757, SAMIA DJENNANE, LAURENCE HIBRAND-SAINT OYANT, KOJI KAWAMURA, DAVID LALANNE, MICHEL LAFFAIRE, TATIANA THOUROUDE, SÉVERINE CHALAIN, SOULAIMAN SAKR, RACHID BOUMAZA, FABRICE FOUCHER and NATHALIE LEDUC

    Article first published online : 23 SEP 2013, DOI: 10.1111/pce.12191

  13. Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 94, Issue 11, November 2012, Pages: 925–933, Entessar Nasser, Elisabeth Mangold, Daniela C. Tradowsky, Heide Fier, Jessica Becker, Anne C. Boehmer, Ruth Herberz, Nadine Fricker, Sandra Barth, Philipp Wahle, Stefanie Nowak, Heiko Reutter, Rudolf H. Reich, Carola Lauster, Bert Braumann, Thomas Kreusch, Alexander Hemprich, Bernd Pötzsch, Per Hoffmann, Franz-Josef Kramer, Michael Knapp, Christoph Lange, Markus M. Nöthen and Kerstin U. Ludwig

    Article first published online : 18 OCT 2012, DOI: 10.1002/bdra.23078

  14. Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1078–1084, Daisuke Usui, Shino Shimada, Keiko Shimojima, Midori Sugawara, Hajime Kawasaki, Hideo Shigematu, Yukitoshi Takahashi, Yushi Inoue, Katsumi Imai and Toshiyuki Yamamoto

    Article first published online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35679

  15. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 364–368, Anne M. Slavotinek, Ryan Chao, Tomas Vacik, Mani Yahyavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef and Daniel F. Schorderet

    Article first published online : 27 DEC 2011, DOI: 10.1002/humu.21658

  16. Severe Cenani–Lenz syndrome caused by loss of LRP4 function

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1475–1479, Ariana Kariminejad, Barbara Stollfuß, Yun Li, Nina Bögershausen, Karin Boss, Raoul C.M. Hennekam and Bernd Wollnik

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35920

  17. 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

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1750–1754, Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Gustavo Savino, Marco Pavanello, Rudolf Happle, Sheila Unger, Andrea Superti-Furga and Karl-Heinz Grzeschik

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35964

  18. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1779–1785, Shino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, Keisuke Yoshii, Yumi Tani, Midori Sugawara, Keiko Shimojima, Makiko Osawa and Toshiyuki Yamamoto

    Article first published online : 23 MAY 2013, DOI: 10.1002/ajmg.a.35975

  19. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1491–1494, Johanna Syvänen, Ilkka Helenius, Matti Hero, Outi Mäkitie and Jaakko Ignatius

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35872

  20. Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1806–1812, Kristina Orendi, Sabine Uhrig, Monika Mach, Petra Tschepper and Michael R. Speicher

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35986