Search Results

There are 16003 results for: content related to: Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia

  1. Thoracic Aortic Aneurysm in Infancy in Aneurysms–Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1028–1035, Anita Wischmeijer, Lut Van Laer, Giada Tortora, Nikhita Ajit Bolar, Guy Van Camp, Erik Fransen, Nils Peeters, Roberto di Bartolomeo, Davide Pacini, Gaetano Gargiulo, Simone Turci, Marco Bonvicini, Elisabetta Mariucci, Luigi Lovato, Stefano Brusori, Marco Ritelli, Marina Colombi, Livia Garavelli, Marco Seri and Bart L. Loeys

    Article first published online : 29 MAR 2013, DOI: 10.1002/ajmg.a.35852

  2. Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia–Esophageal Atresia Syndrome Negative for SOX2 Mutation

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1189–1193, J. Román Corona-Rivera, Juan Carlos Zenteno, Erika Pelcastre-Luna, Karla Miguel-Jiménez, Rafael L. Aguirre-Guillén, Jesús Cabral-Macías, Christian Peña-Padilla, Lucina Bobadilla-Morales and Alfredo Corona-Rivera

    Article first published online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35854

  3. ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1376–1380, Marije E.C. Meuwissen, Maarten H. Lequin, Karen Bindels-de Heus, Hennie T. Bruggenwirth, Maarten F.C.M. Knapen, Michiel Dalinghaus, René de Coo, Yolande van Bever, Beerend H.J. Winkelman and Grazia M.S. Mancini

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35858

  4. GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 973–976, Rowida Almomani, Yu Sun, Emmelien Aten, Yvonne Hilhorst-Hofstee, Cacha M.P.C.D. Peeters-Scholte, Arie van Haeringen, Yvonne M.C. Hendriks, Johan T. den Dunnen, Martijn H. Breuning, Marjolein Kriek and Gijs W.E. Santen

    Article first published online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35808

  5. 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

  6. 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

    Article first published online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35749

  7. 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

  8. 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

  9. 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

  10. A newly recognized autosomal recessive syndrome affecting neurologic function and vision

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1207–1213, Mustafa A. Salih, Andreas Tzschach, Darren T. Oystreck, Hamdy H. Hassan, Abdulmajeed AlDrees, Salah A. Elmalik, Heba Y. El Khashab, Thomas F. Wienker, Khaled K. Abu-Amero and Thomas M. Bosley

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35850

  11. 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

  12. Analysis of De Novo HOXA13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1019–1027, Kailey M. Owens, Shane C. Quinonez, Peedikayil E. Thomas, Catherine E. Keegan, Nanci Lefebvre, Diane Roulston, Christine A. Larsen, H. Scott Stadler and Jeffrey W. Innis

    Article first published online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35843

  13. Recurring and Generalized Visceroptosis in Ehlers–Danlos Syndrome Hypermobility Type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1143–1147, Chiara Dordoni, Marco Ritelli, Marina Venturini, Nicola Chiarelli, Lidia Pezzani, Annalisa Vascellaro, Piergiacomo Calzavara-Pinton and Marina Colombi

    Article first published online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35825

  14. Partial tetrasomy 14 associated with multiple malformations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1284–1290, Johanna Winberg, Kristina Lagerstedt Robinson, Karin Naess, Nicole Lesko, Rolf Wibom, Agne Liedén, Britt-Marie Anderlid, Caroline Graff, Agneta Nordenskjöld, Ann Nordgren and Peter Gustavsson

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35887

  15. Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 958–964, Maike Busch, Barbara Leube, Anne Thiel, Ina Schanze, Manfred Beier and Dr. Brigitte Royer-Pokora

    Article first published online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35818

  16. Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1036–1043, Young Bae Sohn, Jeehun Lee, Sung Yoon Cho, Su Jin Kim, Ah-Ra Ko, Mi Hyun Nam and Dong-Kyu Jin

    Article first published online : 25 MAR 2013, DOI: 10.1002/ajmg.a.35869

  17. 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

    Article first published online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  18. Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1381–1385, Chiara Barone, Sebastiano Bianca, Daniela Luciano, Daniela Di Benedetto, Mirella Vinci and Marco Fichera

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35860

  19. Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1291–1299, Agnieszka Jurecka, Ekaterina Zakharova, Loreta Cimbalistiene, Nina Gusina, Anna Kulpanovich, Adam Golda, Violetta Opoka-Winiarska, Ewa Piotrowska, Elena Voskoboeva and Anna Tylki-Szymańska

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35905

  20. You have free access to this content
    Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 993–1001, Jennifer M. Kalish, Laura K. Conlin, Sogol Mostoufi-Moab, Alisha B. Wilkens, Surabhi Mulchandani, Kristin Zelley, Megan Kowalski, Tricia R. Bhatti, Pierre Russo, Peter Mattei, William G. Mackenzie, Virginia LiVolsi, Kim E. Nichols, Jaclyn A. Biegel, Nancy B. Spinner and Matthew A. Deardorff

    Article first published online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35831