Search Results

There are 15518 results for: content related to: A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

  1. ADAM “sequence” part II: Hypothesis and speculation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 478–503, John M. Opitz, Dennis R. Johnson and Enid F. Gilbert-Barness

    Article first published online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36937

  2. 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

  3. Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader–Willi syndrome: An observational study

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2167–2173, Yasuhiro Kido, Satoru Sakazume, Yoshiko Abe, Yuji Oto, Hisashi Itabashi, Masahisa Shiraishi, Atsunori Yoshino, Yuriko Tanaka, Kazuo Obata, Nobuyuki Murakami and Toshiro Nagai

    Article first published online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36048

  4. Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2066–2073, Lior Borovik, Peggy Modaff, Hans R. Waterham, Anthony D. Krentz and Richard M. Pauli

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36019

  5. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2204–2215, Ofer Sarig, Dorit Goldsher, Janna Nousbeck, Dana Fuchs-Telem, Ksenya Cohen-Katsenelson, Theodore C. Iancu, Irena Manov, Ann Saada, Eli Sprecher and Hanna Mandel

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36059

  6. 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

  7. You have free access to this content
    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

  8. Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2363–2368, Alberto Plaja, Elisabet Lloveras, Cristina Martinez-Bouzas, Beatriz Barreña, Miguel Del Campo, Asunción Fernández, Marta Herrero, Laura Barranco, Nuria Palau, M. Asunción López-Aríztegui, Vicenç Català and Maria-Isabel Tejada

    Article first published online : 25 JUL 2013, DOI: 10.1002/ajmg.a.36102

  9. You have free access to this content
    MLL2 and KDM6A mutations in patients with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2234–2243, Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun-Ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko-Ichiro Yoshiura, Naomichi Matsumoto and Norio Niikawa

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

  10. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1797–1802, Caroline Alby, Bettina Bessieres, Eric Bieth, Tania Attie-Bitach, Laurent Fermont, Isabelle Citony, Ferechté Razavi, Michel Vekemans, Fabienne Escande, Sylvie Manouvrier, Valérie Malan and Jeanne Amiel

    Article first published online : 24 MAY 2013, DOI: 10.1002/ajmg.a.36054

  11. Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1792–1796, Sharon Moalem, Sarah Keating, Patrick Shannon, Megan Thompson, Kathryn Millar, Keith Nykamp, Adam Forster, Abdul Noor and David Chitayat

    Article first published online : 24 MAY 2013, DOI: 10.1002/ajmg.a.36036

  12. You have full text access to this OnlineOpen article
    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

  13. A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2528–2534, Masaki Matsushita, Hiroshi Kitoh, Hiroshi Kaneko, Kenichi Mishima, Izumi Kadono, Naoki Ishiguro and Gen Nishimura

    Article first published online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36134

  14. Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1972–1979, Ok-Hwa Kim, Dong-Kyu Jin, Keisuke Kosaki, Jung-Wook Kim, Sung Yoon Cho, Won Joon Yoo, In Ho Choi, Gen Nishimura, Shiro Ikegawa and Tae-Joon Cho

    Article first published online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36024

  15. 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

  16. 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

  17. Growth hormone, gender and face shape in prader–willi syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2453–2463, Mauren Abreu de Souza, Catherine McAllister, Michael Suttie, Concetta Perrotta, Teresa Mattina, Francesca Faravelli, Francesca Forzano, Anthony Holland and Peter Hammond

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36100

  18. Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2504–2511, Radu Harbuz, Frédéric Bilan, Dominique Couet, Valérie Charraud, Alain Kitzis and Brigitte Gilbert-Dussardier

    Article first published online : 15 AUG 2013, DOI: 10.1002/ajmg.a.36122

  19. 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

  20. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1929–1939, Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly A. Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi-Moab, Surabhi Mulchandani, Sulagna Saitta, Lisa J. States, Daniel T. Swarr, Alisha B. Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew A. Palladino, Nancy B. Spinner and Matthew A. Deardorff

    Article first published online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36045