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There are 7643 results for: content related to: Daytime somnolence in an adult with smith–magenis syndrome

  1. Circadian abnormalities in mouse models of smith–magenis syndrome: Evidence for involvement of RAI1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1561–1568, Melanie Lacaria, Wenli Gu and James R Lupski

    Version of Record online : 23 MAY 2013, DOI: 10.1002/ajmg.a.35941

  2. 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

  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

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

  4. 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

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

  5. 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

  6. 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

    Version of Record online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

  7. Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1309–1318, Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau and Brian H.Y. Chung

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35909

  8. Corpus Callosum Shape Is Altered in Individuals With Nonsyndromic Cleft Lip and Palate

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1002–1007, Seth M. Weinberg, Trish E. Parsons, Melissa R. Fogel, Courtney P. Walter, Amy L. Conrad and Peg Nopoulos

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35835

  9. Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant

    American Journal of Medical Genetics Part A

    Volume 170, Issue 9, September 2016, Pages: 2383–2388, Patra Yeetong, Thierry Vilboux, Carla Ciccone, Kristin Boulier, Rhonda E. Schnur, William A. Gahl, Marjan Huizing, Gonzalo Laje and Ann C. M. Smith

    Version of Record online : 17 JUN 2016, DOI: 10.1002/ajmg.a.37602

  10. 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

  11. Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1940–1946, Idit Maya, Chana Vinkler, Osnat Konen, Liora Kornreich, Tamar Steinberg, Josepha Yeshaya, Victoria Latarowski, Mordechai Shohat, Dorit Lev and Hagit N. Baris

    Version of Record online : 30 APR 2014, DOI: 10.1002/ajmg.a.36583

  12. Hemifacial microsomia in cat-eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1985–1991, Fabiola Quintero-Rivera and Julian A. Martinez-Agosto

    Version of Record online : 21 JUN 2013, DOI: 10.1002/ajmg.a.35895

  13. 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

    Version of Record online : 29 MAR 2013, DOI: 10.1002/ajmg.a.35888

  14. 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

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35738

  15. You have free access to this content
    First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation

    American Journal of Medical Genetics Part A

    Volume 173, Issue 1, January 2017, Pages: 231–238, Fabio Acquaviva, Maria Elena Sana, Matteo Della Monica, Michele Pinelli, Diana Postorivo, Paolo Fontana, Maria Teresa Falco, Anna Maria Nardone, Fortunato Lonardo, Maria Iascone and Gioacchino Scarano

    Version of Record online : 28 SEP 2016, DOI: 10.1002/ajmg.a.37989

  16. Angelman syndrome: Current and emerging therapies in 2016

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

    Volume 172, Issue 4, December 2016, Pages: 384–401, Wen-Hann Tan and Lynne M. Bird

    Version of Record online : 8 NOV 2016, DOI: 10.1002/ajmg.c.31536

  17. 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

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35679

  18. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2274–2280, M.M. Al-Qattan

    Version of Record online : 6 AUG 2013, DOI: 10.1002/ajmg.a.35437

  19. 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

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35920

  20. Severe obstructive sleep apnea in loeys–dietz syndrome successfully treated using continuous positive airway pressure

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1733–1736, Toshiki Takenouchi, Hideyuki Saito, Ryo Maruoka, Naoki Oishi, Chiharu Torii, Jun Maeda, Takao Takahashi and Kenjiro Kosaki

    Version of Record online : 17 MAY 2013, DOI: 10.1002/ajmg.a.35953