American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 December 2004

Volume 131A, Issue 2

Pages 111–226

  1. Invited Comments

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

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Letter
    7. Research Letters
    8. Correspondence
    1. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2 (pages 115–120)

      Russia Ha-Vinh, Yasemin Alanay, Ruud A. Bank, Ana Belinda Campos-Xavier, Andreas Zankl, Andrea Superti-Furga and Luisa Bonafé

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30231

    2. Phenotypic manifestations of the OCTN2 V295X mutation: Sudden infant death and carnitine-responsive cardiomyopathy in Roma families (pages 121–126)

      Béla Melegh, Judit Bene, Gábor Mogyorósy, Viktória Havasi, Katalin Komlósi, László Pajor, Éva Oláh, Gyula Kispál, Balázs Sumegi and Károly Méhes

      Article first published online: 14 OCT 2004 | DOI: 10.1002/ajmg.a.30207

    3. Further delineation of Frank–ter Haar syndrome (pages 127–133)

      Saskia M. Maas, Hulya Kayserili, Jan Lam, Memnune Y. Apak and Raoul C.M. Hennekam

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30244

    4. Three new families with arterial tortuosity syndrome (pages 134–143)

      Marja W. Wessels, Coriene E. Catsman-Berrevoets, Grazia M.S. Mancini, Martijn H. Breuning, Jeanette J.M. Hoogeboom, Hans Stroink, Ingrid Frohn-Mulder, Paul J. Coucke, Anne De Paepe, Martinus F. Niermeijer and Patrick J. Willems

      Article first published online: 4 NOV 2004 | DOI: 10.1002/ajmg.a.30272

    5. KBG syndrome in a cohort of Italian patients (pages 144–149)

      Francesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, Anna Sarkozy, Massimo Biondi, Davide De Brasi, Rita Mingarelli and Bruno Dallapiccola

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30292

    6. Clinical variability in KBG syndrome: Report of three unrelated families (pages 150–154)

      Gustavo Henrique Boff Maegawa, Júlio Cesar Loguercio Leite, Têmis Maria Félix, Heraldo Luís Dias da Silveira and Heloísa Emília da Silveira

      Article first published online: 21 SEP 2004 | DOI: 10.1002/ajmg.a.30293

    7. Heterogeneous basis of the type VIB form of Ehlers–Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation (pages 155–162)

      L.C. Walker, M.A. Overstreet, M.C. Willing, J.C. Marini, W.A. Cabral, G. Pals, J. Bristow, P. Atsawasuwan, M. Yamauchi and Heather N. Yeowell

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30302

    8. Living with achondroplasia: Quality of life evaluation following cervico-medullary decompression (pages 163–167)

      Nicola C. Ho, Michael Guarnieri, Larry J. Brant, Susan S. Park, Bonnie Sun, Marisa North, Clair A. Francomano and Benjamin S. Carson

      Article first published online: 14 OCT 2004 | DOI: 10.1002/ajmg.a.30342

    9. Genotype–phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B) (pages 168–173)

      Eleni Panagiotakaki, Maria Tzetis, Nina Manolaki, Giorgos Loudianos, Athanasios Papatheodorou, Emmanuel Manesis, Sanda Nousia-Arvanitakis, Syriopoulou V and Emmanuel Kanavakis

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30345

    10. Localization of MRX82: A new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family (pages 174–178)

      Francisco Martínez, Isabel Martínez-Garay, Silvestre Oltra, María Dolores Moltó, Carmen Orellana, Sandra Monfort, Félix Prieto and Isabel Tejada

      Article first published online: 3 NOV 2004 | DOI: 10.1002/ajmg.a.30352

    11. Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient (pages 179–185)

      Yasmin Mehraein, Sandra Ehlhardt, Arnold Wagner, Elisabeth Göttert, Wolfgang Tilgen, Klaus D. Zang and Dorothee Dill-Müller

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30370

  3. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Letter
    7. Research Letters
    8. Correspondence
    1. A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: Clinical, cytogenetic, and molecular findings (pages 186–189)

      Griet Van Buggenhout, Nicole M.C. Maas, Jean-Pierre Fryns and Joris R. Vermeesch

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.20679

    2. Partial trisomy of chromosome 10(q22–q24) due to maternal insertional translocation (15;10) (pages 190–193)

      J.Y. Han, K.H. Kim, H.J. Jun, G.H. Je, C.D. Glotzbach and L.G. Shaffer

      Article first published online: 7 OCT 2004 | DOI: 10.1002/ajmg.a.30307

    3. Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia (pages 194–199)

      Doris Taha, Cornelius F. Boerkoel, John Williamson Balfe, Mohammed Khalifah, Emily A. Sloan, Maha Barbar, Abdulrazzaq Haider and Hassan Kanaan

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30356

    4. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency (pages 200–203)

      S. Riedl, A. Giedion, K. Schweitzer, A. Müllner-Eidenböck, F. Grill, H. Frisch and H.-J. Lüdecke

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30374

  4. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Letter
    7. Research Letters
    8. Correspondence
    1. Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia (page 204)

      Dominique Bonneau, Françoise Boussion, Catherine Lépinard, Florence Biquard, Philippe Descamps and Agnès Guichet

      Article first published online: 14 OCT 2004 | DOI: 10.1002/ajmg.a.30180

  5. Research Letter

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Letter
    7. Research Letters
    8. Correspondence
    1. Skewed X-inactivation in carriers establishes linkage in an X-linked deafness–mental retardation syndrome (pages 209–212)

      Frank J. Probst, Peter Hedera, Anthony M. Sclafani, Maria Grazia Pomponi, Giovanni Neri, Jessica Tyson, Julie A. Douglas, Elizabeth M. Petty and Donna M. Martin

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30308

  6. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Letter
    7. Research Letters
    8. Correspondence
    1. Cerebro–reno–digital (Meckel-like) syndrome with limb malformations and acetabular spurs in two sibs: A new MCA syndrome? (pages 213–215)

      Piergiorgio Franceschini, Domenico Licata, Andrea Guala, Pietro Gaglioti, Gianni Botta, Gianna Gianotti and Daniele Franceschini

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30313

    2. Multiple circumferential skin creases: Another sign of genetic mosaicism? (pages 219–220)

      Koen Devriendt, J.P. Fryns, C. Vanhole and G. Bogaert

      Article first published online: 21 SEP 2004 | DOI: 10.1002/ajmg.a.30324

  7. Correspondence

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Letter
    7. Research Letters
    8. Correspondence
    1. Middle and inner ear malformations in velocardiofacial syndrome (pages 225–226)

      Koenraad Devriendt, Ann Swillen, Isabelle Schatteman, Marc Lemmerling and Ingeborg Dhooge

      Article first published online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30326

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