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There are 83520 results for: content related to: Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX 3 Expression

  1. 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

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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

    Article first published online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  3. Reduces Bone Mass as in Human Apert Syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 983–992, Xia Zhou, Dongquan Pu, Ri Liu, Xiangjie Li, Xiujie Wen, Li Zhang, Lin Chen, Manjing Deng and Luchuan Liu

    Article first published online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35824

  4. 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

    Article first published online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35835

  5. 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

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  6. 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

  7. 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

    Article first published online : 6 AUG 2013, DOI: 10.1002/ajmg.a.35437

  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

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

  9. Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1117–1121, Paul R. Mark, Brian C. Radlinski, Nathalie Core, Alan Fryer, Edwin P. Kirk and Chad R. Haldeman-Englert

    Article first published online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35791

  10. 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

  11. 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

    Article first published online : 18 SEP 2013, DOI: 10.1002/ajmg.a.35205

  12. 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

  13. 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

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  14. 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

  15. Evaluation of Tibial Osteopathy Occurrence in Neurofibromatosis Type 1 Italian Patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 927–934, Guido Morcaldi, Maurizio Clementi, Giuliana Lama, Orazio Gabrielli, Silvia Vannelli, Raffaele Virdis, Rossella Vivarelli, Silvio Boero and Eugenio Bonioli

    Article first published online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35753

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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