American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 February 2005

Volume 133A, Issue 1

Pages 1–113

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Research Letters
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy (pages 1–12)

      Aleksander Hinek, Michael A. Teitell, Lisa Schoyer, William Allen, Karen W. Gripp, Robert Hamilton, Rosanna Weksberg, Michael Klüppel and Angela E. Lin

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30495

    2. Large deletion involving the 5′-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia (pages 13–17)

      Hiroshi Iwanaga, Akira Tsujino, Susumu Shirabe, Hiroto Eguchi, Naomi Fukushima, Norio Niikawa, Koh-ichiro Yoshiura and Katsumi Eguchi

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30510

    3. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3 (pages 18–22)

      Muhammad Aslam, Muhammad Wajid, Maria H. Chahrour, Muhammad Ansar, Sayedul Haque, Thanh L. Pham, Regie P. Santos, Kai Yan, Wasim Ahmad and Suzanne M. Leal

      Version of Record online: 7 JAN 2005 | DOI: 10.1002/ajmg.a.30508

    4. Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31 (pages 23–26)

      Asif Mir, Muhammad Ansar, Maria H. Chahrour, Thanh L. Pham, Muhammad Wajid, Sayedul Haque, Kai Yan, Wasim Ahmad and Suzanne M. Leal

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30516

    5. Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation (pages 27–30)

      Qiuju Wang, Roughua Li, Hui Zhao, Jennifer L. Peters, Qiong Liu, Li Yang, Dongyi Han, John H. Greinwald Jr., Wie-Yen Young and Min-Xin Guan

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30424

    6. Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype (pages 37–43)

      Ching-Cherng Tzeng, Li-Ping Tsai, Wuh-Liang Hwu, Shio-Jean Lin, Mei-Chyn Chao, Yuh-Jyh Jong, Shao-Yin Chu, Wei-Chen Chao and Chin-Li Lu

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30528

    7. Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of β-CATENIN and MLH1 (pages 44–47)

      Hans Eiberg, Lars Hansen, Claus Hansen, Jan Mohr, Peter Stubbe Teglbjærg and Klaus Wilbrandt Kjaer

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30568

    8. Subtelomeric rearrangements as neutral genomic polymorphisms (pages 48–52)

      Markus Hengstschläger, Andrea Prusa, Christa Repa, Josef Deutinger, Arnold Pollak and Gerhard Bernaschek

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30520

    9. Mutations in POMT1 are found in a minority of patients with Walker–Warburg syndrome (pages 53–57)

      Sophie C. Currier, Christine K. Lee, Bernard S. Chang, Adria L. Bodell, G. Shashidhar Pai, Leela Job, Lieven G. Lagae, Lihadh I. Al-Gazali, Wafaa M. Eyaid, Greg Enns, William B. Dobyns and Christopher A. Walsh

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30487

  2. Research Letters

    1. Top of page
    2. Research Articles
    3. Research Letters
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly (pages 58–60)

      C. Vitiello, P. D'Adamo, F. Gentile, E.M. Vingolo, P. Gasparini and S. Banfi

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30554

  3. Research Articles

    1. Top of page
    2. Research Articles
    3. Research Letters
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies (pages 61–67)

      Andreas Zankl, Luitgard Neumann, Jaako Ignatius, Peter Nikkels, Connie Schrander-Stumpel, Geert Mortier, Heymut Omran, Michael Wright, Katja Hilbert, Luisa Bonafé, Juergen Spranger, Bernhard Zabel and Andrea Superti-Furga

      Version of Record online: 10 JAN 2005 | DOI: 10.1002/ajmg.a.30531

    2. ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia (pages 68–70)

      Anna Sarkozy, Emanuela Conti, Rita D'Agostino, Maria Cristina Digilio, Roberto Formigari, Fernando Picchio, Bruno Marino, Antonio Pizzuti and Bruno Dallapiccola

      Version of Record online: 10 JAN 2005 | DOI: 10.1002/ajmg.a.30534

    3. Maternal inheritance in cyclic vomiting syndrome (pages 71–77)

      Richard G. Boles, Kathleen Adams and B.U.K. Li

      Version of Record online: 10 JAN 2005 | DOI: 10.1002/ajmg.a.30524

  4. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Research Letters
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene (pages 82–84)

      Wim Wuyts, Edwin Reyniers, Chantal Ceuterick, Katrien Storm, Thierry de Barsy and Jean-Jacques Martin

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30517

    2. An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene (pages 85–89)

      Orazio Gabrielli, Giovanni V. Coppa, Stefano Bruni, Guglielmo R.D. Villani, Gianfranco Pontarelli and Paola Di Natale

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30552

    3. Neonatal paroxysmal trismus and camptodactyly: The Crisponi syndrome (pages 90–92)

      Eline A. Nannenberg, Rob Bijlmer, Bjorn M. Van Geel and Raoul C.M. Hennekam

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30536

    4. A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation (pages 93–98)

      Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T. Noblin, Carlos A. Bacino and Michael J. Gambello

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30535

  5. Research Letters

    1. Top of page
    2. Research Articles
    3. Research Letters
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. 14q32.3 deletion syndrome with autism (pages 99–100)

      J. Lawrence Merritt II, Syed M. Jalal, William J. Barbaresi and Dusica Babovic-Vuksanovic

      Version of Record online: 15 DEC 2004 | DOI: 10.1002/ajmg.a.30462

    2. A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II (pages 101–102)

      Deniz Yilmaz, Özgür Çogǧulu, Ferda Ozkinay, Kaan Kavakli and Dirk Roos

      Version of Record online: 22 DEC 2004 | DOI: 10.1002/ajmg.a.30467

    3. Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis (pages 103–105)

      Iris Schrijver, Wikrom Karnsakul, Chanin Limwongse, Sudha Ramalingam, Ramalingam Sankaran, Phyllis Gardner and Richard Moss

      Version of Record online: 22 DEC 2004 | DOI: 10.1002/ajmg.a.30472

    4. Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation (pages 106–107)

      Eiji Nakashima, Shiro Ikegawa, Hirofumi Ohashi, Mamori Kimizuka and Gen Nishimura

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30481

    5. New type of twin spot (pages 108–111)

      M.A.M. van Steensel, P.M. Steijlen and M.B. Maessen-Visch

      Version of Record online: 22 DEC 2004 | DOI: 10.1002/ajmg.a.30447

  6. Book Reviews

    1. Top of page
    2. Research Articles
    3. Research Letters
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Book review (page 112)

      F. Clarke Fraser

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30556

  7. Correspondence

    1. Top of page
    2. Research Articles
    3. Research Letters
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence

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