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There are 12020 results for: content related to: Duplication of AKT 3 as a cause of macrocephaly in duplication 1q43q44

  1. Deletion 1q43-44 in a patient with clinical diagnosis of Warburg–Micro syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1243–1251, Ignacio Arroyo-Carrera, María Solo de Zaldívar Tristancho, Eva Bermejo-Sánchez, María Luisa Martínez-Fernández, Amparo López-Lafuente, Alexandra MacDonald, Ángel Zúñiga, José Luis Gómez-Skarmeta and María Luisa Martínez-Frías

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.36878

  2. Phenotypes of AKT3 deletion: A case report and literature review

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 174–179, Dayu Gai, Eric Haan, Matthew Scholar, Jillian Nicholl and Sui Yu

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36710

  3. Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 171, Issue 3, April 2016, Pages: 458–467, Isabel A. Hemming, Alistair R. R. Forrest, Peter Shipman, Karen J. Woodward, Peter Walsh, David G. Ravine and Julian Ik-Tsen Heng

    Version of Record online : 7 FEB 2016, DOI: 10.1002/ajmg.b.32427

  4. Hemiconvulsion–hemiplegia–epilepsy syndrome with 1q44 microdeletion: Causal or chance association

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 186–189, Rekha Gupta, Meenal Agarwal, Vijay R. Boqqula, Rajendra V. Phadke and Shubha R. Phadke

    Version of Record online : 8 NOV 2013, DOI: 10.1002/ajmg.a.36198

  5. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 441–448, P.Y. Billie Au, Bob Argiropoulos, Jillian S. Parboosingh and A. Micheil Innes

    Version of Record online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36320

  6. 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

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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

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

  8. 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

  9. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 3, 15 March 2003, Pages: 251–254, M. Gentile, A. Di Carlo, P. Volpe, A. Pansini, P. Nanna, M.C. Valenzano and A.L. Buonadonna

    Version of Record online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10018

  10. Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: An array CGH analysis and review

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 490–494, Ibrahim Akalin, Senol Bozdag, Malte Spielmann, Sarenur Yilmaz Basaran, Indrajit Nanda and Eva Klopocki

    Version of Record online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36278

  11. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 15, 1 August 2007, Pages: 1692–1698, Anthony D. Hill, Bernard S. Chang, R. Sean Hill, Levi A. Garraway, Adria Bodell, William R. Sellers and Christopher A. Walsh

    Version of Record online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31776

  12. Pediatric glaucoma terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3205–3215, Anuradha Ganesh, Dang Tam Mai and Alex V. Levin

    Version of Record online : 18 SEP 2013, DOI: 10.1002/ajmg.a.35205

  13. Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 4, April 2016, Pages: 908–917, Satoshi Watanabe, Kenji Shimizu, Hirofumi Ohashi, Rika Kosaki, Nobuhiko Okamoto, Keiko Shimojima, Toshiyuki Yamamoto, Yasutsugu Chinen, Seiji Mizuno, Yuri Dowa, Natsuko Shiomi, Yoshihiro Toda, Katsuya Tashiro, Koichi Shichijo, Kazunori Minatozaki, Seijiro Aso, Kyoko Minagawa, Yoko Hiraki, Osamu Shimokawa, Tadashi Matsumoto, Masafumi Fukuda, Hiroyuki Moriuchi, Koh-ichiro Yoshiura and Tatsuro Kondoh

    Version of Record online : 18 JAN 2016, DOI: 10.1002/ajmg.a.37496

  14. 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

    Version of Record online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  15. 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

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35905

  16. 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

  17. 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

  18. Development of the human aortic arch system captured in an interactive three-dimensional reference model

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1372–1383, M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  19. 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

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

  20. 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