American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 February 2006

Volume 140A, Issue 3

Pages 195–302

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years (pages 195–199)

      Annegret Müller, Hans K. Schackert, Bettina Lange, Josef Rüschoff, Laslow Füzesi, Joerg Willert, Peter Burfeind, Parantu Shah, Heinz Becker, Joerg Thomas Epplen and Susanne Stemmler

      Version of Record online: 21 DEC 2005 | DOI: 10.1002/ajmg.a.31070

  2. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. BAC array CGH reveals genomic aberrations in idiopathic mental retardation (pages 205–211)

      Noriko Miyake, Osamu Shimokawa, Naoki Harada, Nadia Sosonkina, Aiko Okubo, Hiroki Kawara, Nobuhiko Okamoto, Kenji Kurosawa, Hiroshi Kawame, Mie Iwakoshi, Tomoki Kosho, Yoshimitsu Fukushima, Yoshio Makita, Yuji Yokoyama, Takanori Yamagata, Mitsuhiro Kato, Yoko Hiraki, Masayo Nomura, Ko-ichiro Yoshiura, Tatsuya Kishino, Tohru Ohta, Takeshi Mizuguchi, Norio Niikawa and Naomichi Matsumoto

      Version of Record online: 17 JAN 2006 | DOI: 10.1002/ajmg.a.31098

    2. Pure direct duplication (12)(q24.1 [RIGHTWARDS ARROW] q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies (pages 212–221)

      Martine Doco-Fenzy, Pierre Mauran, Jean Marie Lebrun, Sylvie Bock, Nathalie Bednarek, Stéphanie Struski, Juliette Albuisson, Azarnouche Ardalan, Nathalie Collot, Anouck Schneider, Florence Dastot-Le Moal, Dominique Gaillard and Michel Goossens

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31057

    3. Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome (pages 227–232)

      Yoko Kondo, Seiji Mizuno, Kei Ohara, Takeshi Nakamura, Kenichiro Yamada, Shunji Yamamori, Chiemi Hayakawa, Takashi Ishii, Yasukazu Yamada and Nobuaki Wakamatsu

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31073

    4. Characterization of mosaic supernumerary ring chromosomes by array-CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity (pages 233–237)

      Céline Bonnet, Christian Zix, Marie-José Grégoire, Karène Brochet, Mireille Duc, Florence Rousselet, Christophe Philippe and Philippe Jonveaux

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31075

    5. A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2 (pages 238–244)

      Desheng Liang, Lingqian Wu, Qian Pan, Naoki Harada, Zhigao Long, Kun Xia, Koh-ichiro Yoshiura, Heping Dai, Norio Niikawa, Fang Cai and Jiahui Xia

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31077

    6. Obstructive sleep apnea in Costello syndrome (pages 257–262)

      Giacomo Della Marca, Isabella Vasta, Emanuele Scarano, Mario Rigante, Emma De Feo, Paolo Mariotti, Marco Rubino, Catello Vollono, Gioacchino Francesco Mennuni, Pietro Tonali and Giuseppe Zampino

      Version of Record online: 17 JAN 2006 | DOI: 10.1002/ajmg.a.31076

    7. High heritability of fingertip arch patterns in twin-pairs (pages 263–271)

      Terry Reed, Richard J. Viken and Shannon A. Rinehart

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31086

  3. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. Diagnosis and management of heterokaryotypic monochorionic twins (pages 272–275)

      Liesbeth Lewi, Isaac Blickstein, Dominique Van Schoubroeck, Karl-Philipp Gloning, Martine Casteels, Helen Brandenburg, Jean-Pierre Fryns and Jan Deprest

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31052

    2. Behavioral management of a long-term survivor with tetrasomy 18p (pages 276–280)

      Hanes M. Swingle, Joel Ringdahl, Royann Mraz, Shivanand Patil and Kim Keppler-Noreuil

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31058

    3. Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome (pages 281–283)

      Edda Haberlandt, Christine Svejda, Stefan Felber, Sara Baumgartner, Barbara Günther, Gerd Utermann and Dieter Kotzot

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31071

    4. Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele (pages 284–290)

      P. Rump, T.G.W. Letteboer, J.J.P. Gille, M.J.L. Torringa, W. Baerts, J.P.J. van Gestel, J.B.G.M. Verheij and A.J. van Essen

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31084

  4. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients (pages 291–293)

      Noriko Miyake, Osamu Shimokawa, Naoki Harada, Nadia Sosonkina, Aiko Okubo, Hiroki Kawara, Nobuhiko Okamoto, Hirofumi Ohashi, Kenji Kurosawa, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Vorasuk Shotelersuk, Jia-Woei Hou, Yoshimitsu Fukushima, Tatsuro Kondoh, Tadashi Matsumoto, Toshihiko Shinoki, Mitsuhiro Kato, Hidefumi Tonoki, Masayo Nomura, Ko-ichiro Yoshiura, Tatsuya Kishino, Tohru Ohta, Norio Niikawa and Naomichi Matsumoto

      Version of Record online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.31012

    2. Restrictive dermatopathy: A lethal congenital dermatosis and review of literature (pages 294–297)

      M.L. Kulkarni, K. Sudarshan Shetty, V.K. Chandrasekar and M. Preethi Kulkarni

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.20264

    3. Finlay–Marks (SEN) syndrome: A sporadic case and the delineation of the syndrome (pages 300–302)

      Nara Lygia de Macena Sobreira, Décio Brunoni, Mirlene Cecília Soares Pinho Cernach and Ana Beatriz Alvarez Perez

      Version of Record online: 12 JAN 2006 | DOI: 10.1002/ajmg.a.31063

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