American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 7

1 April 2008

Volume 146A, Issue 7

Pages 803–964

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. New Syndrome
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys (pages 803–812)

      M. Giulia Torrioli, Silvia Vernacotola, Laura Peruzzi, Elisabetta Tabolacci, Montserrat Mila, Roberto Militerni, Sebastiano Musumeci, Feliciano J. Ramos, Marìa Frontera, Giovanni Sorge, Elisabetta Marzullo, Giusi Romeo, Louis Vallee, Edvige Veneselli, Elena Cocchi, Eleonora Garbarino, Umberto Moscato, Pietro Chiurazzi, Stefania D'Iddio, Menotti Calvani and Giovanni Neri

      Version of Record online: 19 FEB 2008 | DOI: 10.1002/ajmg.a.32268

  2. New Syndrome

    1. Top of page
    2. Rapid Publications
    3. New Syndrome
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. You have free access to this content
  3. Research Articles

    1. Top of page
    2. Rapid Publications
    3. New Syndrome
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA) (pages 833–842)

      Leslie Richter, Pamela Flodman, Fernando Barria von-Bischhoffshausen, Douglas Burch, Sandra Brown, Linda Nguyen, Julia Turner, M. Anne Spence and J. Bronwyn Bateman

      Version of Record online: 26 FEB 2008 | DOI: 10.1002/ajmg.a.32236

    2. In search of the psychosis gene in people with Prader-Willi syndrome (pages 843–853)

      Tessa Webb, Esther N. Maina, Sarita Soni, Joyce Whittington, Harm Boer, David Clarke and Anthony Holland

      Version of Record online: 6 MAR 2008 | DOI: 10.1002/ajmg.a.32212

    3. Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome (pages 854–860)

      Merlin G. Butler, William Fischer, Nataliya Kibiryeva and Douglas C. Bittel

      Version of Record online: 11 FEB 2008 | DOI: 10.1002/ajmg.a.32249

    4. The Italian National Survey for Prader–Willi syndrome: An epidemiologic study (pages 861–872)

      Graziano Grugni, Antonino Crinò, Laura Bosio, Andrea Corrias, Marina Cuttini, Teresa De Toni, Eliana Di Battista, Adriana Franzese, Luigi Gargantini, Nella Greggio, Lorenzo Iughetti, Chiara Livieri, Arturo Naselli, Claudio Pagano, Giovanni Pozzan, Letizia Ragusa, Alessandro Salvatoni, Giuliana Trifirò, Luciano Beccaria, Maria Bellizzi, Jaele Bellone, Amelia Brunani, Marco Cappa, Gabriella Caselli, Valeria Cerioni, Maurizio Delvecchio, Daniela Giardino, Francesco Iannì, Luigi Memo, Alba Pilotta, Cristoforo Pomara, Giorgio Radetti, Michele Sacco, Annarosa Sanzari, Alessandro Sartorio, Giorgio Tonini, Roberto Vettor, Federico Zaglia, Giuseppe Chiumello and on behalf of the Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)

      Version of Record online: 17 JAN 2008 | DOI: 10.1002/ajmg.a.32133

    5. Developmental profiles in young children with Prader–Labhart–Willi syndrome: Effects of weight and therapy with growth hormone or coenzyme Q10 (pages 873–880)

      Urs Eiholzer, Udo Meinhardt, Valentin Rousson, Nelica Petrovic, Michael Schlumpf and Dagmar l'Allemand

      Version of Record online: 6 FEB 2008 | DOI: 10.1002/ajmg.a.32137

  4. Research Reviews

    1. Top of page
    2. Rapid Publications
    3. New Syndrome
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Review of 64 cases of death in children with Prader–Willi syndrome (PWS) (pages 881–887)

      M. Tauber, G. Diene, C. Molinas and M. Hébert

      Version of Record online: 6 MAR 2008 | DOI: 10.1002/ajmg.a.32131

  5. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. New Syndrome
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. A girl with fragile X premutation from sperm donation (pages 888–892)

      Juthamas Wirojanan, Kathleen Angkustsiri, Flora Tassone, Louise W. Gane and Randi J. Hagerman

      Version of Record online: 19 FEB 2008 | DOI: 10.1002/ajmg.a.31876

    2. Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion (pages 893–898)

      Laila Zahed, Carolina Sismani, M. Ioannides, Monzer Saleh, G. Koumbaris, Mazen Kenj, Amal Abdallah, Maya Ayyache and Philippos Patsalis

      Version of Record online: 26 FEB 2008 | DOI: 10.1002/ajmg.a.32128

    3. Familial interstitial deletion of the short arm of chromosome 4 (p15.33–p16.3) characterized by molecular cytogenetic analysis (pages 899–903)

      Audrey Basinko, Nathalie Douet-Guilbert, Philippe Parent, Gilles Blondin, M. Mingam, Françoise Monot, Frédéric Morel, Marie-Josée Le Bris and Marc De Braekeleer

      Version of Record online: 26 FEB 2008 | DOI: 10.1002/ajmg.a.32138

    4. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome (pages 904–909)

      Gil Binenbaum, Donna M. McDonald-McGinn, Elaine H. Zackai, B. Michael Walker, Karlene Coleman, Amy M. Mach, Margaret Adam, Melanie Manning, Deborah M. Alcorn, Carrie Zabel, Dennis R. Anderson and Brian J. Forbes

      Version of Record online: 6 MAR 2008 | DOI: 10.1002/ajmg.a.32156

    5. Interstitial deletion of 13q associated with polymicrogyria (pages 910–916)

      Jillene M. Kogan, John C. Egelhoff and Howard M. Saal

      Version of Record online: 6 MAR 2008 | DOI: 10.1002/ajmg.a.32188

    6. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients (pages 917–924)

      Martine Doco-Fenzy, Muriel Holder-Espinasse, Eric Bieth, Corinne Magdelaine, Marie-Claire Vincent, Maroun Khoury, Joris Andrieux, Feng Zhang, James R. Lupski, Rabih Klink, Anouck Schneider, Odile Goze-Martineau, Jean-Marie Cuisset, Louis Vallee, Sylvie Manouvrier-Hanu, Dominique Gaillard and Bérengère de Martinville

      Version of Record online: 7 MAR 2008 | DOI: 10.1002/ajmg.a.32195

    7. Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman (pages 925–929)

      Martina Höckner, Barbara Utermann, Martin Erdel, Christine Fauth, Gerd Utermann and Dieter Kotzot

      Version of Record online: 26 FEB 2008 | DOI: 10.1002/ajmg.a.32251

  6. Research Letters

    1. Top of page
    2. Rapid Publications
    3. New Syndrome
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Genetic variation in the HTR1A gene and sudden infant death syndrome (pages 930–933)

      Megan E. Morley, Casey M. Rand, Elizabeth M. Berry-Kravis, Lili Zhou, Wenqing Fan and Debra E. Weese-Mayer

      Version of Record online: 19 FEB 2008 | DOI: 10.1002/ajmg.a.32112

    2. Infrequency of two deletion mutations at the DFNB1 locus in patients and controls (pages 934–936)

      Hsiao-Yuan Tang, Monica J. Basehore, Gregory L. Blakey, Sandra Darilek, John S. Oghalai, Benjamin B. Roa, Ping Fang and Raye Lynn Alford

      Version of Record online: 6 MAR 2008 | DOI: 10.1002/ajmg.a.32207

    3. Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1 (pages 937–939)

      Inaam El-Rassy, Jad Bou-Abdallah, Sara Al-Ghadban, Fadi Bitar and Georges Nemer

      Version of Record online: 11 FEB 2008 | DOI: 10.1002/ajmg.a.32225

  7. Correspondence

    1. Top of page
    2. Rapid Publications
    3. New Syndrome
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Clarification of previously reported Costello syndrome patients (pages 940–943)

      Angela E. Lin, Katherine A. Rauen, Karen W. Gripp and John C. Carey

      Version of Record online: 26 FEB 2008 | DOI: 10.1002/ajmg.a.32164

    2. Dominantly-inherited lop ears (page 944)

      Alasdair G.W. Hunter

      Version of Record online: 11 FEB 2008 | DOI: 10.1002/ajmg.a.32234

  8. Errata

    1. Top of page
    2. Rapid Publications
    3. New Syndrome
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. You have free access to this content
    2. You have free access to this content
      Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function (pages 952–964)

      Jayne S. Weiss, Howard S. Kruth, Helena Kuivaniemi, Gerard Tromp, Jayaprakash Karkera, Sunil Mahurkar, Walter Lisch, William J Dupps Jr., Peter S. White, R. Scott Winters, Chaesik Kim, Christopher J. Rapuano, John Sutphin, Jim Reidy, Fung-Rong Hu, Da Wen Lu, Neil Ebenezer and Michael L. Nickerson

      Version of Record online: 24 MAR 2008 | DOI: 10.1002/ajmg.a.32328

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