American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 June 2005

Volume 135A, Issue 2

Pages 117–236

  1. Invited Comments

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

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    8. In Memoriam
    1. Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile (pages 120–125)

      Jorge S. López-Camelo, Iêda M. Orioli, Maria da Graça Dutra, Julio Nazer-Herrera, Nelson Rivera, María Elena Ojeda, Aurora Canessa, Elisabeth Wettig, Ana María Fontannaz, Cecília Mellado and Eduardo E. Castilla

      Version of Record online: 21 APR 2005 | DOI: 10.1002/ajmg.a.30651

    2. GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population (pages 126–129)

      Rikkert L. Snoeckx, Bulantrisna Djelantik, Lut Van Laer, Paul Van de Heyning and Guy Van Camp

      Version of Record online: 14 APR 2005 | DOI: 10.1002/ajmg.a.30726

    3. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein–Taybi syndrome (pages 130–133)

      Toshiyuki Yamamoto, Kenji Kurosawa, Mitsuo Masuno, Shigeharu Okuzumi, Soichi Kondo, Sahoko Miyama, Nobuhiko Okamoto, Noriko Aida and Gen Nishimura

      Version of Record online: 14 APR 2005 | DOI: 10.1002/ajmg.a.30708

    4. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers (pages 142–144)

      Carlo Castellani, Luigi Picci, Maurizio Scarpa, Maria Cristina Dechecchi, Luisa Zanolla, Baroukh Maurice Assael and Franco Zacchello

      Version of Record online: 14 APR 2005 | DOI: 10.1002/ajmg.a.30470

    5. Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability (pages 145–149)

      Philippos C Patsalis, Nicos Skordis, Carolina Sismani, Ludmila Kousoulidou, George Koumbaris, Christina Eftychi, George Stavrides, Antonis Ioulianos, Sophia Kitsiou-Tzeli, Angeliki Galla-Voumvouraki, Zoe Kosmaidou, Charalambos G Hadjiathanasiou and Ken McElreavey

      Version of Record online: 5 MAY 2005 | DOI: 10.1002/ajmg.a.30712

    6. Gonadoblastoma in Turner syndrome and Y-chromosome-derived material (pages 150–154)

      Laura Mazzanti, Alessandro Cicognani, Lilia Baldazzi, Rosalba Bergamaschi, Emanuela Scarano, Simona Strocchi, Annalisa Nicoletti, Francesca Mencarelli, Mariacarla Pittalis, Antonino Forabosco and Emanuele Cacciari

      Version of Record online: 5 MAY 2005 | DOI: 10.1002/ajmg.a.30569

    7. Omphalocele, advanced maternal age, and fetal morbidity outcomes (pages 161–165)

      Hamisu M. Salihu, Donath Emusu, Zakari Y. Aliyu, Bosny J. Pierre-Louis, Charlotte M. Druschel and Russell S. Kirby

      Version of Record online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30725

    8. EMX2-independent familial schizencephaly: Clinical and genetic analyses (pages 166–170)

      Ian Tietjen, Füsun Erdogan, Sophie Currier, Kira Apse, Bernard S. Chang, R. Sean Hill, Christine K. Lee and Christopher A. Walsh

      Version of Record online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30734

    9. Essential versus complex autism: Definition of fundamental prognostic subtypes (pages 171–180)

      J.H. Miles, T.N. Takahashi, S. Bagby, P.K. Sahota, D.F. Vaslow, C.H. Wang, R.E. Hillman and J.E. Farmer

      Version of Record online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30590

  3. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    8. In Memoriam
    1. Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20 (pages 181–185)

      Marc K. Halushka, Gail Stetten, Joseph L. McMichael, Karin J. Blakemore and Grover M. Hutchins

      Version of Record online: 14 APR 2005 | DOI: 10.1002/ajmg.a.30730

    2. Adams–Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism? (pages 186–189)

      Muriel Girard, Jeanne Amiel, Monique Fabre, Danièle Pariente, Stanislas Lyonnet and Emmanuel Jacquemin

      Version of Record online: 14 APR 2005 | DOI: 10.1002/ajmg.a.30724

    3. Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of “mosaic chimerism” (pages 190–194)

      Sylvie Bourthoumieu, Catherine Yardin, Faraj Terro, Brigitte Gilbert, Cécile Laroche, Robert Saura, Marie-Claire Vincent and Françoise Esclaire

      Version of Record online: 14 APR 2005 | DOI: 10.1002/ajmg.a.30674

    4. Novel autosomal recessive progressive hyperpigmentation syndrome (pages 195–199)

      Ulrike Hüffmeier, Ingrid Hausser, André Reis and Anita Rauch

      Version of Record online: 25 APR 2005 | DOI: 10.1002/ajmg.a.30668

    5. Hypoparathyroidism–retardation–dysmorphism (HRD) syndrome in triplets (pages 200–201)

      Khalil Al Tawil, Adnan Shataiwi, Angham Mutair, Wafa Eyaid and Saif Al Saif

      Version of Record online: 25 APR 2005 | DOI: 10.1002/ajmg.a.30666

    6. Schimke-immuno-osseous dysplasia: New mutation with weak genotype–phenotype correlation in siblings (pages 202–205)

      Thomas Lücke, Heiko Billing, Emily A. Sloan, Cornelius F. Boerkoel, Doris Franke, Miriam Zimmering, Jochen H.H. Ehrich and Anibh M. Das

      Version of Record online: 5 MAY 2005 | DOI: 10.1002/ajmg.a.30691

    7. Association of migraine-like headaches with Schimke immuno-osseous dysplasia (pages 206–210)

      Sara Sebnem Kilic, Osman Donmez, Emily A. Sloan, Leah I. Elizondo, Cheng Huang, Jean-Luc André, Radovan Bogdanovic, Sandra Cockfield, Isabel Cordeiro, Georges Deschenes, Stefan Fründ, Ilkka Kaitila, Giuliana Lama, Petra Lamfers, Thomas Lücke, David V. Milford, Lydia Najera, Francisco Rodrigo, Jorge M. Saraiva, Beate Schmidt, Graham C. Smith, Nastasa Stajic, Anja Stein, Doris Taha, Dorothea Wand, Dawna Armstrong and Cornelius F. Boerkoel

      Version of Record online: 9 MAY 2005 | DOI: 10.1002/ajmg.a.30692

    8. Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of HOXD13 (pages 211–213)

      Jacobo Mendioroz, Joaquín Fernández-Toral, Etelvina Suárez, Fermina López-Grondona, Klaus W. Kjaer, Eva Bermejo and María Luisa Martínez-Frías

      Version of Record online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30728

    9. Cockayne syndrome: The developing phenotype (pages 214–216)

      Wen-Hann Tan, Hagit Baris, Caroline D. Robson and Virginia E. Kimonis

      Version of Record online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30731

  4. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    8. In Memoriam
    1. Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy (pages 217–219)

      Fuki M. Hisama, Michelangelo Mancuso, Massimiliano Filosto and Salvatore DiMauro

      Version of Record online: 30 MAR 2005 | DOI: 10.1002/ajmg.a.30672

    2. Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects (pages 220–223)

      Alexandre R. Vieira, Jeffrey C. Murray, Dimitri Trembath, Iêda M. Orioli, Eduardo E. Castilla, Margaret E. Cooper, Mary L. Marazita, Felicia Lennon-Graham and Marcy Speer

      Version of Record online: 5 MAY 2005 | DOI: 10.1002/ajmg.a.30705

    3. OEIS complex with del(3)(q12.2q13.2) (pages 224–226)

      Rika Kosaki, Yasuyuki Fukuhara, Motomichi Kosuga, Torayuki Okuyama, Noriko Kawashima, Toshiro Honna, Katsuhiko Ueoka and Kenjiro Kosaki

      Version of Record online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30733

  5. Book Reviews

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

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    8. In Memoriam
    1. Other tumors in Sotos syndrome (page 228)

      Pablo Lapunzina

      Version of Record online: 25 APR 2005 | DOI: 10.1002/ajmg.a.30667

    2. Cardiovascular genetics clinics (page 229)

      Kim L. McBride, Doug Teske, Libby Sparks and Sara Fitzgerald

      Version of Record online: 21 MAR 2005 | DOI: 10.1002/ajmg.a.30657

    3. Statin drugs and congenital anomalies (pages 230–231)

      Herman Gibb and Anthony R. Scialli

      Version of Record online: 4 APR 2005 | DOI: 10.1002/ajmg.a.30685

    4. Reply to “Statin Drugs and Congenital Anomalies” by Gibb and Scialli (pages 232–234)

      Robin J. Edison and Maximilian Muenke

      Version of Record online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30686

  7. In Memoriam

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

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