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There are 7231 results for: content related to: Two cases of hepatic adenomas in patients with wolf-hirschhorn syndrome: A new rare complication?

  1. 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1465–1469, Nobuhiko Okamoto, Kazumi Ohmachi, Shino Shimada, Keiko Shimojima and Toshiyuki Yamamoto

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35910

  2. Wolf–Hirschhorn syndrome: A review and update

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

    Volume 169, Issue 3, September 2015, Pages: 216–223, Agatino Battaglia, John C. Carey and Sarah T. South

    Article first published online : 4 AUG 2015, DOI: 10.1002/ajmg.c.31449

  3. Microarray and FISH-based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 597–609, Kenji Shimizu, Keiko Wakui, Tomoki Kosho, Nobuhiko Okamoto, Seiji Mizuno, Kazuya Itomi, Shigeto Hattori, Kimio Nishio, Osamu Samura, Yoshiyuki Kobayashi, Yuko Kako, Takashi Arai, Tsutomu Oh-ishi, Hiroshi Kawame, Yoko Narumi, Hirofumi Ohashi and Yoshimitsu Fukushima

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36308

  4. Another patient with 12q13 microduplication

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2004–2008, M. Bertoli, V. Alesi, F. Gullotta, S. Zampatti, M.R. Abate, C. Palmieri, A. Novelli, M. Frontali and A. M. Nardone

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.35991

  5. 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

  6. 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

  7. 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

  8. A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 190–193, Gaetano Terrone, Gerarda Cappuccio, Rita Genesio, Annalisa Esposito, Valeria Fiorentino, Marina Riccitelli, Lucio Nitsch, Nicola Brunetti-Pierri and Ennio Del Giudice

    Article first published online : 15 NOV 2013, DOI: 10.1002/ajmg.a.36200

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2358–2362, Bitten Schönewolf-Greulich, Kirstine Ravn, Bente Hamborg-Petersen, Karen Brøndum-Nielsen and Zeynep Tümer

    Article first published online : 25 JUL 2013, DOI: 10.1002/ajmg.a.36099

  17. 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

  18. 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

  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