American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 October 2005

Volume 138A, Issue 3

Pages 197–305

  1. Genetic Drift

    1. Top of page
    2. Genetic Drift
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
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      On being a medical geneticist (pages 197–198)

      Eduardo E. Castilla

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30956

  2. Research Articles

    1. Top of page
    2. Genetic Drift
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Stickler syndrome: Clinical characteristics and diagnostic criteria (pages 199–207)

      Peter S. Rose, Howard P. Levy, Ruth M. Liberfarb, Joie Davis, Y. Szymko-Bennett, Benjamin I. Rubin, Ekaterini Tsilou, Andrew J. Griffith and Clair A. Francomano

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30955

    2. Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation (pages 208–211)

      Chunmei Li, Gregory Kosmorsky, Kang Zhang, Bradley J. Katz, Jian Ge and Elias I. Traboulsi

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30794

    3. Adults with VATER association: Long-term prognosis (pages 212–217)

      Patricia G. Wheeler and David D. Weaver

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30938

    4. FISH-mapping of telomeric 14q32 deletions: Search for the cause of seizures (pages 218–224)

      Kamilla Schlade-Bartusiak, Teresa Costa, Anne M. Summers, Malgorzata J.M. Nowaczyk and Diane W. Cox

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30942

    5. Chromosome 11-q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population (pages 225–228)

      Adriana Díaz-Anzaldúa, Jean-Baptiste Rivière, Marie-Pierre Dubé, Ridha Joober, Judith Saint-Onge, Yves Dion, Paul Lespérance, Francois Richer, Sylvain Chouinard and Guy Armand Rouleau

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30928

    6. Ring chromosome 9 [r(9)(p24q34)]: A report of two cases (pages 229–235)

      Smita M. Purandare, Jiyun Lee, Susan Hassed, Marilyn I. Steele, Piers R. Blackett, John J. Mulvihill and Shibo Li

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30382

    7. XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family (pages 241–246)

      Orietta Radi, Pietro Parma, Sandrine Imbeaud, Maria Rita Nasca, Filippo Uccellatore, Paola Maraschio, Luciano Tiepolo, Giuseppe Micali and Giovanna Camerino

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30935

    8. Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images (pages 247–253)

      Kristina Aldridge, Simeon A. Boyadjiev, George T. Capone, Valerie B. DeLeon and Joan T. Richtsmeier

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30959

    9. Facial and physical features of Aicardi syndrome: Infants to teenagers (pages 254–258)

      V. Reid Sutton, Bobbi J. Hopkins, Tanya N. Eble, Nikki Gambhir, Richard A. Lewis and Ignatia B. Van den Veyver

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30963

    10. Genome-wide SNP arrays as a diagnostic tool: Clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population (pages 262–267)

      Kevin A. Strauss, Erik G. Puffenberger, David W. Craig, Corrie B. Panganiban, Anne M. Lee, Diane Hu-Lince, Dietrich A. Stephan and D. Holmes Morton

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30961

  3. Clinical Reports

    1. Top of page
    2. Genetic Drift
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome (pages 272–277)

      Germán Rodríguez-Criado, Luis Magano, Mabel Segovia, Fiorella Gurrieri, Giovanni Neri, Antonio González-Meneses, Ignacio Gómez de Terreros, Rita Valdéz, Ricardo Gracia and Pablo Lapunzina

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30920

    2. Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation (pages 278–281)

      Emma McCann, Stephen B. Kaye, William Newman, Gail Norbury, Graeme C.M. Black and Ian H. Ellis

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30944

    3. Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls (pages 282–287)

      Tomoki Kosho, Jun Takahashi, Hirofumi Ohashi, Gen Nishimura, Hiroyuki Kato and Yoshimitsu Fukushima

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30965

    4. Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20 (pages 288–293)

      Azarnouche Ardalan, Marguerite Prieur, Agnès Choiset, Catherine Turleau, Françoise Goutieres and Sylvie Girard-Orgeolet

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30966

  4. Research Letters

    1. Top of page
    2. Genetic Drift
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. A male with two idic(Y)(q12) chromosomes: A distinct phenotype resembling the XXXY/XXXXY syndrome (pages 294–296)

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

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30934

    2. Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? (pages 297–299)

      Shoko Takahira, Tatsuro Kondoh, Muneichiro Sumi, Masato Tagawa, Masayuki Obatake, Eiichi Kinoshita, Osamu Shimokawa, Naoki Harada, Noriko Miyake, Naomichi Matsumoto and Hiroyuki Moriuchi

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30947

    3. X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3 (pages 300–302)

      Tadashi Matsumoto, Noriko Miyake, Yoshiaki Watanabe, Gaku Yamanaka, Shingo Oana, Masaaki Ogiwara, Akinori Hoshika, Noriko Sasaki, Harumi Miyahara and Norio Niikawa

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30951

  5. Book Reviews

    1. Top of page
    2. Genetic Drift
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Book review (page 303)

      Cynthia J. Curry

      Version of Record online: 9 AUG 2005 | DOI: 10.1002/ajmg.a.30874

  6. Correspondence

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

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