American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 24

15 December 2008

Volume 146A, Issue 24

Pages 3115–3246

  1. In Memoriam

    1. Top of page
    2. In Memoriam
    3. Rapid Publications
    4. New Syndrome
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Errata
  2. Rapid Publications

    1. Top of page
    2. In Memoriam
    3. Rapid Publications
    4. New Syndrome
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Errata
    1. Navajo microvillous inclusion disease is due to a mutation in MYO5B (pages 3117–3119)

      Robert P. Erickson, Katherine Larson-Thomé, Robert K. Valenzuela, Stacia E. Whitaker and Mitchell D. Shub

      Article first published online: 12 NOV 2008 | DOI: 10.1002/ajmg.a.32605

  3. New Syndrome

    1. Top of page
    2. In Memoriam
    3. Rapid Publications
    4. New Syndrome
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Errata
    1. You have free access to this content
    2. You have free access to this content
      A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects (pages 3126–3131)

      Silvana C. Santos, Eliete Pardono, Maria Ione Ferreira da Costa, Aurea Nogueira de Melo, Zodja Graciani, Alessandra Cavalcanti de Albuquerque e Souza, Karina Lezirovitz, Renata Soares Thiele-Aguiar, Regina Célia Mingroni-Netto, John M. Opitz, Fernando Kok and Paulo A. Otto

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32580

  4. Invited Comments

    1. Top of page
    2. In Memoriam
    3. Rapid Publications
    4. New Syndrome
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Errata
  5. Research Articles

    1. Top of page
    2. In Memoriam
    3. Rapid Publications
    4. New Syndrome
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Errata
    1. Predictive genetic testing for cardiovascular diseases: Impact on carrier children (pages 3136–3146)

      Tineke M. Meulenkamp, Aad Tibben, Eline D. Mollema, Irene M. van Langen, Albert Wiegman, Guido M. de Wert, Inez D. de Beaufort, Arthur A.M. Wilde and Ellen M.A. Smets

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32592

    2. Familial twinning and fertility in Dutch mothers of twins (pages 3147–3156)

      Chantal Hoekstra, Gonneke Willemsen, Toos C.E.M. van Beijsterveldt, Grant W. Montgomery and Dorret I. Boomsma

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32585

    3. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome (pages 3157–3166)

      Meike Rybczynski, Alexander M.J. Bernhardt, Uwe Rehder, Bettina Fuisting, Ludwig Meiss, Ursula Voss, Christian Habermann, Christian Detter, Peter N. Robinson, Mine Arslan-Kirchner, Jörg Schmidtke, Thomas S. Mir, Jürgen Berger, Thomas Meinertz and Yskert von Kodolitsch

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32595

    4. Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family (pages 3167–3172)

      Magdalena Nawara, Jakub Klapecki, Katarzyna Borg, Marta Jurek, Sarah Moreno, Jolanta Tryfon, Jerzy Bal, Jamel Chelly and Tadeusz Mazurczak

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32613

    5. You have free access to this content
      Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo-TORCH” phenotype (pages 3173–3180)

      T.A. Briggs, N.I. Wolf, S. D'Arrigo, F. Ebinger, I. Harting, W.B. Dobyns, J.H. Livingston, G.I. Rice, D. Crooks, C.A. Rowland-Hill, W. Squier, N. Stoodley, D.T. Pilz and Y.J. Crow

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32614

  6. Clinical Reports

    1. Top of page
    2. In Memoriam
    3. Rapid Publications
    4. New Syndrome
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Errata
    1. Identification of a HOXD13 mutation in a VACTERL patient (pages 3181–3185)

      Maria-Mercè Garcia-Barceló, Kenneth Kak-yuen Wong, Vincent Chi-hang Lui, Zhen-wei Yuan, Man-ting So, Elly Sau-wai Ngan, Xiao-ping Miao, Patrick Ho-yu Chung, Pek-lan Khong and Paul Kwong-hang Tam

      Article first published online: 12 NOV 2008 | DOI: 10.1002/ajmg.a.32426

    2. Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy (pages 3186–3194)

      Sérgio B. Sousa, Isabelle Russell-Eggitt, Christine Hall, Bryan D. Hall and Raoul C.M. Hennekam

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32576

    3. Unique mosaic X/Y translocation/insertion in infant 45,X male (pages 3195–3197)

      V.B. Chernykh, S.V. Vyatkina, V.G. Antonenko, N.V. Shilova, T.V. Zolotukhina, L.F. Kurilo, A.L. Chukhrova and A.V. Polyakov

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32578

    4. Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome? (pages 3198–3201)

      André Mégarbané, Leila Samaras, Rima Chédid, Eliane Chouery, Dominique Chrétien, Catherine Caillaud, Joelle Abou-Ghoch and Nadine Jalkh

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32579

    5. The presence of bicuspid aortic valve does not predict ventricular septal defect type (pages 3202–3205)

      Kan N. Hor, William L. Border, Linda H. Cripe, D. Woodrow Benson and Robert B. Hinton

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32609

    6. A novel 2.43 Mb deletion of 7q11.22–q11.23 (pages 3206–3210)

      Moira Blyth, Sarah Beal, Shuwen Huang, John Crolla and Nicola Foulds

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32584

  7. Research Letters

    1. Top of page
    2. In Memoriam
    3. Rapid Publications
    4. New Syndrome
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Errata
    1. Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation (pages 3223–3226)

      Farkhondeh Behjati, Yousef Shafeghati, Kimia Kahrizi, Saghar Ghasemi Firouzabadi, Hossein Najmabadi, Neil Dixon and Angela F. Davies

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32575

    2. Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus (pages 3227–3229)

      Jose I. Martin-Subero, Marina Bibikova, Deborah Mackay, Eliza Wickham-Garcia, Nadia Sellami, Julia Richter, Rene Santer, Almuth Caliebe, Jian-Bing Fan, I. Karen Temple and Reiner Siebert

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32577

    3. A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient (pages 3230–3233)

      Doriana Misceo, Kathrine Bjørgo, Eli Ormerod, Øyvind Ringen, Mariano Rocchi, Carl Birger van der Hagen and Eirik Frengen

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32582

    4. Slender bone dysplasia (gracile) (pages 3234–3236)

      Jessica L. Nyholm, Noralane M. Lindor, Kristen B. Thomas and Brian C. Brost

      Article first published online: 12 NOV 2008 | DOI: 10.1002/ajmg.a.31979

    5. Crisponi syndrome: A new case with additional features and new mutation in CRLF1 (pages 3237–3239)

      Ilyas Okur, Leyla Tumer, Laura Crisponi, Fatma Tuba Eminoglu, Francesca Chiappe, Peyami Cinaz, Idil Yenicesu and Alev Hasanoglu

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32531

    6. Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 [RIGHTWARDS ARROW] pter and monosomy 3p26.3 [RIGHTWARDS ARROW] pter in seven members (pages 3242–3245)

      Anna Lisa Nucaro, Marta Meloni, Tiziana Pisano, Paola Melis, Elena Rossi, Rossano Rossino, Simona Corona, Mario Loi, Francesco Achena, Orsetta Zuffardi and Carlo Cianchetti

      Article first published online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32590

  8. Errata

    1. Top of page
    2. In Memoriam
    3. Rapid Publications
    4. New Syndrome
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Errata
    1. You have free access to this content
      Am J Med Genet Part A 146A:644–648 Autosomal dominant gigantiform cementoma associated with bone fractures (page 3246)

      Mohammad Moshref, Arash Khojasteh, Bahram Kazemi, Mohsen Vahid Roudsari, Masood Varshowsaz and Behnam Eslami

      Article first published online: 24 NOV 2008 | DOI: 10.1002/ajmg.a.32470

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