American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 October 1991

Volume 41, Issue 1

Pages fmi–fmi, 1–140

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Masthead (page fmi)

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410101

  2. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Townes—Brocks syndrome in two mentally retarded youngsters (pages 1–4)

      Thomas H. Cameron, Ave M. Lachiewicz and Arthur S. Aylsworth

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410102

  3. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Hand and foot length in Prader-Willi syndrome (pages 5–9)

      Dr. Louanne Hudgins and Suzanne B. Cassidy

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410103

    2. MASA syndrome: Clinical variability and linkage analysis (pages 10–14)

      M. Rietschel, W. Friedl, S. Uhlhaas, M. Neugebauer, D. Heimann and K. Zerres

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410104

  4. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1] (pages 15–17)

      Linda C. Surh, David H. Ledbetter and Frank Greenberg

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410105

  5. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter (pages 18–20)

      Dr. David H. Gutmann, Elaine H. Zackai, Donna M. McDonald-McGinn, Kenneth H. Fischbeck and John Kamholz

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410106

  6. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Limb body-wall complex in association with sirenomelia sequence (pages 21–25)

      Thomas T. Tang, Herbert W. Oechler, David H. Hinke, Annette D. Segura and Ralph A. Franciosi

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410107

  7. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Concordance of auriculo-cardiovascular-skeletal malformations: A new malformation complex in an infant of a diabetic mother? (pages 26–29)

      Michal Berkenstadt, Rachel Shtrausberg, Richard M. Goodman, Mariassa Bat-Miriam Katznelson, Boleslav Goldman and Gad Barkai

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410108

  8. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Neu Laxova syndrome in two Egyptian families (pages 30–31)

      Nagwa Abdel Meguid and Prof. Dr. Samia A. Temtamy

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410109

    2. Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation (pages 32–34)

      Dr. Mitsuo Masuno, Yang Cholsong, Takashi Kuwahara, Nobuo Shimizu, Seiji Yamaguchi, Ichiro Kawabata, Teruhiko Tamaya, Yukio Morishita, Naoki Yoshimi and Tadao Orii

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410110

  9. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
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    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Marshall syndrome (pages 35–38)

      Robert F. Stratton, Brendan Lee and Francesco Ramirez

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410111

    2. Denaturing gradient gel electrophoresis of the α1-antitrypsin gene: Application to prenatal diagnosis (pages 39–43)

      Jacqueline R. Dubel, Raymond Finwick and J. Fielding Hejtmancik

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410112

    3. Genetic and clinical heterogeneity of Stickler syndrome (pages 44–48)

      Gillian M. Vintiner, I. Karen Temple, Helen R. Middleton-Price, Michael Baraitser and Dr. Sue Malcolm

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410113

    4. Syndrome of mental retardation and distal arthrogryposis in sibs (pages 49–51)

      David Chitayat, Kathy A. Hodgkinson, Shirley Blaichman, Moy-Fong Chen, Gordon V. Watters, Samir Khalife and Judith G. Hall

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410114

    5. Human chorionic gonadotrophin and trisomy 18 (pages 52–53)

      Dr. G. Barkai, R. Chaki, M. Sochat and B. Goldman

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410115

    6. Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients (pages 54–63)

      Jun-Ichi Hamabe, Yoshimitsu Fukushima, Naoki Harada, Kyohko Abe, Nobutake Matsuo, Toshiro Nagai, Akira Yoshioka, Hidefumi Tonoki, Ryuichi Tsukino and Norio Niikawa

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410116

    7. DNA deletion and its parental origin in Angelman syndrome patients (pages 64–68)

      Jun-Ichi Hamabe, Yoshikazu Kuroki, Kiyoshi Imaizumi, Tateo Sugimoto, Yoshimitsu Fukushima, Atsuko Yamaguchi, Yoshinori Izumikawa and Norio Niikawa

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410117

    8. Costello syndrome (pages 69–73)

      Dr. Vazken M. Der Kaloustian, Brenda Moroz, Nathalie McIntosh, A. Kevin Watters and Shirley Blaichman

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410118

    9. Cerebro-oculo-facio-skeletal syndrome: Further delineation (pages 74–77)

      Ruth Gershoni-Baruch, Ruth M. Ludatscher, Chaim Lichtig, Polo Sujov and Imad Machoul

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410119

    10. Monozygotic twins discordant for Ullrich-Turner syndrome (pages 78–82)

      Paul B. Kaplowitz, Joann Bodurtha, Judith Brown and J. Edward Spence

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410120

    11. Nager acrofacial dysostosis: Male-to-male transmission in 2 families (pages 83–88)

      Arthur S. Aylsworth, Angela E. Lin and Patricia A. Friedman

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410121

    12. Glutaric aciduria type I: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania (pages 89–95)

      D. Holmes Morton, Michael J. Bennett, Lorne E. Seargeant, Charles A. Nichter and Richard I. Kelley

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410122

    13. Diagnosis of twin zygosity by hypervariable RFLP markers (pages 96–98)

      Dr. Atsushi Akane, Kazuo Matsubara, Hiroshi Shiono, Masao Yamada and Yasuo Nakagome

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410123

    14. High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement (pages 99–101)

      Dr. Mazin B. Qumsiyeh, R. Sid Wilroy, Joseph N. Peeden and Avirachan T. Tharapel

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410124

  10. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Hypomandibular faciocranial dysostosis: Report of an affected sib and follow-up (pages 102–104)

      R. Neil Schimke, Katherine S. Claflin, John H. Seguin, Timothy L. Bennett, Brent E. Finley, Lenna M. Levitch and Ward M. Newcomb

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410125

  11. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. PCR detection of distal Yp sequences in an XX true hermaphrodite (pages 112–114)

      Dr. Yosuo Nakagome, Satoko Seki, Dr. Keiko Fukutani, Shigeo Nagafuchi, Yutaka Nakahori and Takashi Tamura

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410127

    2. The Otto Ullrich award for excellence in clinical genetics (page 125)

      John C. Carey

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410129

  12. Editorial Comment

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
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    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Otto Ullrich: An appreciation (pages 126–127)

      Dr. John M. Optiz

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410130

  13. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Otto Ullrich and his syndromes (pages 128–133)

      Dr. Hans-Rudolf Wiedemann

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410131

  14. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
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    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Follow-up of Ullrich's original patient with “Ullrich-Turner” syndrom (pages 134–136)

      Professor Dr. med. Drs. h.c. H.-R. Wiedemann and J. Glatzl

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410132

  15. Letter to the Editor

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
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    7. Brief Clinical Reports
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    9. Brief Clinical Reports
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    11. Brief Clinical Reports
    12. Articles
    13. Editorial Comment
    14. Articles
    15. Brief Clinical Reports
    16. Letter to the Editor
    1. Review of Dr. Parkash's report (page 137)

      Victor A. McKusick

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410133

    2. Mandibuloacral “dysplasia” (page 138)

      Helga V. Toriello

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410134

    3. Familial progeria or mandibulo-acral dysplasia? (page 139)

      Francesco Cusano and Gioacchino Scarano

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410135

    4. Reply to Dr. Toriello (page 140)

      Hari Parkash

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410136

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