American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 May 1993

Volume 46, Issue 3

Pages fmi–fmi, 255–354

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460301

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    1. New findings in short rib syndrome (pages 255–259)

      Daniela Cideciyan, Maria M. Rodriguez, Ronald L. Haun, George E. Abdenour and Jocelyn H. Bruce

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460302

    2. Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother (pages 260–262)

      Takehiko Ohzeki, Keiichi Hanaki, Hiroko Motozumi, Hiroko Ohtahara, Kazuo Shiraki and Kimiko Yoshioka

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460303

    3. Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients (pages 263–267)

      Juan Pablo Méndez, Alfredo Ulloa-Aguirre, Susana Kofman-Alfaro, Osvaldo Mutchinick, Carlos Fernández-del-Castillo, Edgardo Reyes and Gregorio Pérez-Palacios

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460304

    4. Detection of the cystic fibrosis delta-F508 mutation at autopsy by site-directed mutagenesis (pages 268–270)

      Mauricio Salcedo, Margarita Chávez, Cecilia Ridaura, Manuel Moreno, José L. Lezana and Lorena Orozco

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460305

    5. Renal findings in 40 individuals with Williams syndrome (pages 271–274)

      Barbara R. Pober, Ronald V. Lacro, Cynthia Rice, Valerie Mandell and Rita L. Teele

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460306

    6. Concordance and recessive inheritance of Leber congenital amaurosis (pages 275–277)

      Scott R. Lambert, Stephanie Sherman, David Taylor, Anthony Kriss, Rebecca Coffey and Marcus Pembrey

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460307

    7. Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers–Danlos syndrome type IV (pages 278–283)

      Paolo Narcisi, Yuli Wu, Gerard Tromp, James J Earley, Allan J. Richards, F. Michael Pope and Helena Kuivaniemi

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460308

    8. Apparent dominant transmission of the Rubinstein-Taybi syndrome (pages 284–287)

      Robert W. Marion, Diana M. Garcia and Jeffrey B. Karasik

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460309

    9. Molecular and cytogenetic characterization of 9p– abnormalities (pages 288–292)

      Ahmad S. Teebi, Lisa Gibson, James McGrath, M. S. Meyn, W. Roy Breg and Teresa L. Yang-Feng

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460310

    10. Rubinstein–Taybi syndrome with thymic hypoplasia (pages 293–296)

      Hiroshi Kimura, Yohko Ito, Yoshiro Koda and Yutaka Hase

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460311

    11. Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe (pages 297–303)

      Lauren Kenworthy, Taesung Park and Lawrence R. Charnas

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460312

    12. In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus “suddenly at risk” (pages 309–312)

      Mark I. Evans, S. A. Farrell, Anne Greb, Peter Ray, Mark P. Johnson and Eric P. Hoffman

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460314

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    1. Possible second case of tricho-oculo-dermo-vertebral (Alves) syndrome (pages 313–315)

      Dr. Robert F. Stratton, Ronald J. Jorgenson and Irene C. Krause

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460315

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    1. Encomium: Robert J. Gorlin (page 316)

      John M. Opitz

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460316

  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    1. Oral-facial-digital syndrome type I in a newborn male (pages 335–338)

      Yves Gillerot, Marianne Heimann, Catherine Fourneau, Christine Verellen-Dumoulin and Lionel Van Maldergem

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460318

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    1. Case of (Y;1) familial translocation (pages 339–340)

      Michelle Teyssier, Azim Rafat and Michel Pugeat

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460319

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    1. Inguinal hernia and atrial septal defect in tel Hashomer camptodactyly syndrome: Report of a new case expanding the phenotypic spectrum of the disease (pages 341–344)

      P. Franceschini, M. P. Vardeu, F. Signorile, A. Testa, A. Guala, D. Franceschini and L. Dalforno

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460320

  8. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    1. Short rib (polydactyly) syndrome type IV: Beemer–Langer syndrome (page 345)

      Dr. Anita K. Sharma, Shubha R. Phadke and S. S. Agarwal

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460321

    2. Response to Dr. Sharma and colleagues (page 346)

      Raj P. Kapur and Dr. Roberta A. Pagon

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460322

    3. Clustering of cri du chat syndrome among the Bedouins (pages 347–348)

      Dr. Talaat I. Farag, Sadika A. Al-Awadi, Makia J. Marafie, Laila Bastaki, D. S. Krishna Murthy, Sulaiman A. Al-Othman, Fawziyah M. Mohamed, Amira A. Reda, Sawsan J. Abul Hasan, Mariam A. Reda, Lulwa Al-Jeryan, Nawal Al-Hashash, Hutham Al-Khorafi, Iman A. Q. Haji, Ibrahim Al-Suliman, Kadr Al-Nagdi, Mohammed Al-Ghanem, R. Usha, Samir A. Mady and R. Uma

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460323

    4. Mucinous cystadenoma of ovary in a patient with Williams syndrome (page 349)

      Sandra L. Marles, Norman A. Goldberg and Dr. Albert E. Chudley

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460324

    5. Poland anomaly with a limb body wall disruption defect (page 350)

      Fiona J. Stewart, Norman C. Nevin and Victor E. Boston

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460325

    6. Monozygotic twinning and Wiedemann-Beckwith syndrome (pages 353–354)

      Dr. Piergiorgio Franceschini, Andrea Guala, Maria Paola Vardeu and Daniele Franceschini

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460327

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