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There are 1636 results for: content related to: Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype

  1. You have free access to this content
    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

  2. Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2775–2792, Judith G. Hall

    Article first published online : 26 AUG 2014, DOI: 10.1002/ajmg.a.36731

  3. The extraordinary career of Professor Dr. Simon van Creveld

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2689–2700, Paul J. W. Stoelinga, Walter E. Berdon and M. Michael Cohen Jr.

    Article first published online : 30 SEP 2014, DOI: 10.1002/ajmg.a.36334

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    Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

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    If not Angelman, what is it? a review of Angelman-like syndromes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 975–992, Wen-Hann Tan, Lynne M. Bird, Ronald L. Thibert and Charles A. Williams

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36416

  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

    Article first published online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

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    A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 17–28, Kathryn J. Swoboda, Rebecca L. Margraf, John C. Carey, Holly Zhou, Tara M. Newcomb, Emily Coonrod, Jacob Durtschi, Kalyan Mallempati, Attila Kumanovics, Ben E. Katz, Karl V. Voelkerding and John M. Opitz

    Article first published online : 20 NOV 2013, DOI: 10.1002/ajmg.a.36189

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    Annals of morphology. Atavisms: Phylogenetic lazarus?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2822–2835, Ginevra Zanni and John M. Opitz

    Article first published online : 8 OCT 2013, DOI: 10.1002/ajmg.a.36234

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    Long term follow-up of four patients with Keutel syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2849–2856, H.E. Khosroshahi, S.C. Sahin, Y. Akyuz and H. Ede

    Article first published online : 13 AUG 2014, DOI: 10.1002/ajmg.a.36699

  10. Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3095–3114, Kun Ma

    Article first published online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  11. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1961–1971, Emma Vernersson Lindahl, Elvin L. Garcia and Alea A. Mills

    Article first published online : 14 JUN 2013, DOI: 10.1002/ajmg.a.36074

  12. Growth charts for individuals with Rubinstein–Taybi syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2300–2309, Lex Beets, Cristina Rodríguez-Fonseca and Raoul C. Hennekam

    Article first published online : 2 JUL 2014, DOI: 10.1002/ajmg.a.36654

  13. Endocrine abnormalities in townes–brocks syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2266–2273, Cara Lawrence, Irene Hong-McAtee, Bryan Hall, James Hartsfield, Andrew Rutherford, Tracy Bonilla and Carolyn Bay

    Article first published online : 25 JUL 2013, DOI: 10.1002/ajmg.a.36104

  14. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 898–906, Katta M. Girisha, Abdul Mueed Bidchol, Preeti S. Kamath, Krupa H. Shah, Geert R. Mortier, Stefan Mundlos and Hitesh Shah

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36367

  15. 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

  16. 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

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    Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1221–1237, Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi-Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35933

  18. Modeling AEC—New approaches to study rare genetic disorders

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2443–2454, Peter J. Koch, Jason Dinella, Mary Fete, Elaine C. Siegfried and Maranke I. Koster

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36455

  19. Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2370–2377, Piranit Nik Kantaputra, Massupa Kaewgahya, Atchareeya Wiwatwongwana, Damrong Wiwatwongwana, Rekwan Sittiwangkul, Anak Iamaroon and Prapai Dejkhamron

    Article first published online : 24 JUN 2014, DOI: 10.1002/ajmg.a.36630

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    Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2697–2703, G. Neri, R. Marini, M. Cappa, P. Borrelli and J.M. Opitz

    Article first published online : 24 OCT 2013, DOI: 10.1002/ajmg.a.36317