Search Results

There are 816893 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. 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

  4. Fraser Syndrome: Epidemiological Study in a European Population

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1012–1018, Ingeborg Barisic, Ljubica Odak, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Sebastiano Bianca, Patricia A. Boyd, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Anna Latos-Bielenska, Bob McDonnell, Anna Pierini, Judith Rankin, Anke Rissmann, Annette Queisser-Luft, Christine Verellen-Dumoulin, David Stone and Romano Tenconi

    Article first published online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35839

  5. A de novo GLI3 mutation in a patient with acrocallosal syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1394–1400, Leonie Speksnijder, Titia E. Cohen-Overbeek, Maarten F.C.M. Knapen, Simone M. Lunshof, A. Jeannette M. Hoogeboom, Ans M. van den Ouwenland, Irenaneus F.M. de Coo, Maarten H. Lequin, Hanno J. Bolz, Carsten Bergmann, Leslie G. Biesecker, Patrick J. Willems and Marja W. Wessels

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35874

  6. 12q24.33 deletion: Report of a patient with intellectual disability and review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1409–1413, Martin Kehrer, Sylke Singer, Ute Grasshoff, Karin Schäferhoff, Michael Bonin, Olaf Riess, Martin Schöning and Andreas Tzschach

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35877

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. Persistent Hypertension Despite Successful Dilation of a Stenotic Renal Artery in a Boy With Neurofibromatosis Type 1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1154–1157, Keisuke Ueda, Midori Awazu, Yoriko Konishi, Toshiki Takenouchi, Sachiko Shimozato, Kenjiro Kosaki and Takao Takahashi

    Article first published online : 5 APR 2013, DOI: 10.1002/ajmg.a.35829