American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 5

1 March 2008

Volume 146A, Issue 5

Pages 541–674

  1. In Memoriam

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Károly Méhes (1936–2007) (pages 541–542)

      György Kosztolányi

      Version of Record online: 6 FEB 2008 | DOI: 10.1002/ajmg.a.31859

  2. New Syndrome

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
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      Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: A newly recognized overgrowth syndrome? (pages 543–547)

      Margaret P. Adam, Joyce A. Kobori, Kristina Cusmano-Ozog, Kelly M. Chen and H. Eugene Hoyme

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32166

  3. Research Articles

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. The clinical atlas of Greig cephalopolysyndactyly syndrome (pages 548–557)

      Katherine Balk and Leslie G. Biesecker

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32167

    2. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia (pages 558–569)

      David O. Robinson, Rachel J. Howarth, Kathleen A. Williamson, Veronica van Heyningen, Sarah J. Beal and John A. Crolla

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32209

    3. Pituitary abnormalities in Prader–Willi syndrome and early onset morbid obesity (pages 570–577)

      Jennifer L. Miller, Anthony P. Goldstone, Jessica A. Couch, Jonathan Shuster, Guojun He, Daniel J. Driscoll, Yijun Liu and Ilona M. Schmalfuss

      Version of Record online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31677

    4. A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11 (pages 578–584)

      Peter Kinirons, Dominique J. Verlaan, Marie-Pierre Dubé, Josée Poirier, Charles Deacon, Anne Lortie, Jean-François Clément, Richard Desbiens, Lionel Carmant, Cecile Cieuta-Walti, Michael Shevell, Guy A. Rouleau and Patrick Cossette

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32139

    5. Cranial nerve manifestations in CHARGE syndrome (pages 585–592)

      Kim D. Blake, Timothy S. Hartshorne, Christopher Lawand, A. Nichole Dailor and James W. Thelin

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32179

    6. X-linked congenital ataxia: A new locus maps to Xq25-q27.1 (pages 593–600)

      Ginevra Zanni, Enrico Bertini, Cecelia Bellcross, Brigitte Nedelec, Guy Froyen, Gerhard Neuhäuser, John M. Opitz and Jamel Chelly

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32186

    7. 3q29 interstitial microduplication: A new syndrome in a three-generation family (pages 601–609)

      Emily C. Lisi, Ada Hamosh, Kimberly F. Doheny, Elizabeth Squibb, Barbara Jackson, Rebecca Galczynski, George H. Thomas and Denise A.S. Batista

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32190

    8. Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome (pages 620–628)

      Giuseppe Limongelli, Anna Sarkozy, Giuseppe Pacileo, Paolo Calabrò, Maria Cristina Digilio, Valeria Maddaloni, Giulia Gagliardi, Giovanni Di Salvo, Maria Iacomino, Bruno Marino, Bruno Dallapiccola and Raffaele Calabrò

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32206

    9. A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS (pages 629–635)

      Dalila Aguilar, Kathryn E. Sigford, Kultida Soontarapornchai, Danh V. Nguyen, Patrick E. Adams, Jennifer M. Yuhas, Flora Tassone, Paul J. Hagerman and Randi J. Hagerman

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32211

  4. Clinical Reports

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay (pages 636–643)

      Alisa Nakamine, Leonid Ouchanov, Patricia Jiménez, Elina R. Manghi, Marcela Esquivel, Silvia Monge, Marietha Fallas, Barbara K. Burton, Barbara Szomju, Sarah H. Elsea, Christian R. Marshall, Stephen W. Scherer and L. Alison McInnes

      Version of Record online: 2 MAR 2007 | DOI: 10.1002/ajmg.a.31636

    2. Autosomal dominant gigantiform cementoma associated with bone fractures (pages 644–648)

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

      Version of Record online: 4 FEB 2008 | DOI: 10.1002/ajmg.a.32171

    3. Two new Brazilian patients with Gómez–López-Hernández syndrome: Reviewing the expanded phenotype with molecular insights (pages 649–657)

      Israel Gomy, Benjamin Heck, Antônio Carlos Santos, Maria Silvia L. Figueiredo, Carlos E. Martinelli Jr, Maria Priscila C. Nogueira and João M. Pina-Neto

      Version of Record online: 4 FEB 2008 | DOI: 10.1002/ajmg.a.32173

    4. Second case of Beare–Stevenson syndrome with an FGFR2 Ser372Cys mutation (pages 658–660)

      Renata Fonseca, Marcelo A. Costa-Lima, Viviana Cosentino and Iêda M. Orioli

      Version of Record online: 4 FEB 2008 | DOI: 10.1002/ajmg.a.32176

    5. Perrault syndrome: Report of four new cases, review and exclusion of candidate genes (pages 661–664)

      Sandrine Marlin, Didier Lacombe, Laurence Jonard, Nicolas Leboulanger, Dominique Bonneau, Cyril Goizet, Thierry Billette de Villemeur, Sylvie Cabrol, Muriel Houang, Lucien Moatti, Delphine Feldmann and Françoise Denoyelle

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32180

  5. Research Letters

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader–Willi syndrome (pages 665–669)

      Duane T. Brandau, Mariana Theodoro, Uttam Garg and Merlin G. Butler

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32194

    2. Segmental hemangioma: An important clinical term (pages 670–671)

      Anita N. Haggstrom and Ilona J. Frieden

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32198

  6. Correspondence

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Segmental hemangioma: The misuse of a term (pages 672–673)

      M. Michael Cohen Jr.

      Version of Record online: 4 FEB 2008 | DOI: 10.1002/ajmg.a.32196

    2. Oculocerebrocutaneous syndrome: An update (page 674)

      Alasdair Hunter

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32185

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