American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

30 January 1995

Volume 55, Issue 3

Pages fmi–fmi, 257–395

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. Masthead (page fmi)

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550301

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. Auriculocephalic index: A new anthropometric index for syndrome delineation (pages 257–260)

      Lothar Pelz and Beate Stein

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550302

    2. Absent tibiae—polydactyly—triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome? (pages 261–264)

      Fernando Regla Vargas, Ricardo Lopes Pontes, Juan Clinton Llerena Jr. and Jose Carlos Cabral de Almeida

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550303

    3. Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies (pages 269–275)

      S. Shankman, A. B. Spurdle, D. Morris, J. Rosendorff, I. Marques, R. Bernstein and M. Ramsay

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550305

    4. Genital abnormalities in females with Bardet-Biedl syndrome (pages 276–278)

      Dr. Joan M. Stoler, John T. Herrin and Lewis B. Holmes

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550306

    5. Prenatal diagnosis of recurrence of short rib-polydactyly syndrome (pages 279–284)

      Meng-Hsing Wu, Pao-Lin Kuo and Shio-Jean Lin

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550307

    6. Male pseudohermaphroditism in sibs with the α-thalassemia/mental retardation (ATR-X) syndrome (pages 285–287)

      Dr. W. Reardon, R. J. Gibbons, R. M. Winter and M. Baraitser

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550308

    7. Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X) (pages 288–299)

      R. J. Gibbons, L. Brueton, V. J. Buckle, J. Burn, J. Clayton-Smith, B. C. C. Davison, R. J. M. Gardner, T. Homfray, L. Kearney, H. M. Kingston, R. Newbury-Ecob, M. E. P. Porteous, A. O. M. Wilkie and Dr. D. R. Higgs

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550309

  3. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. Lumping Juberg–Marsidi syndrome and X-linked α-thalassemia/mental retardation syndrome? (pages 300–301)

      Pascale Saugier-Veber, Arnold Munnich, Stanislas Lyonnet, Annick Toutain, Claude Moraine, Charles Piussan, Michèle Mathieu and Richard J. Gibbons

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550310

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. X-linked α-thalassemia/mental retardation (ATR-X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression (pages 302–306)

      Elizabeth W. McPherson, Michele M. Clemens, Richard J. Gibbons and Douglas R. Higgs

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550311

    2. Genetic linkage for Darier disease (keratosis follicularis) (pages 307–310)

      James L. Kennedy, Daniel Berg, Anne S. Bassett, Rochelle Roy, Nicole King and Michelle Perkins

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550312

    3. Familial Mediterranean fever: High gene frequency among the non-Ashkenazic and ashkenazic Jewish populations in Israel (pages 311–314)

      M. Daniels, T. Shohat, A. Brenner-Ullman and M. Shohat

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550313

    4. Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21 (pages 315–318)

      Fiorella Gurrieri, Marina Cammarata, Rosa Maria Avarello, Maurizio Genuardi, Maria Grazia Pomponi, Giovanni Neri and Liborio Giuffrè

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550314

  5. New Syndrome?

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. Clitoromegaly in neurofibromatosis (pages 325–330)

      Rebecca Sutphen, Enrique Galán-Goméz and Boris G. Kousseff

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550316

    2. Arthrogryposis multiplex congenita in an Arab kindred: Update (pages 331–334)

      Lutfi Jaber, Raphael Weitz, Xiangdong Bu, Nathan Fischel-Ghodsian, Jerome I. Rotter and Dr. Mordechai Shohat

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550317

    3. Genetic, environmental, and phenotypic links between body mass index and blood pressure among women (pages 335–341)

      David B. Allison, Stanley Heshka, Michael C. Neale, Peter V. Tishler and Steven B. Heymsfield

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550318

    4. Duchenne muscular dystrophy and myotonic dystrophy in the same patient (pages 342–348)

      Alberto L. Dubrovsky, A. L. Taratuto, G. Sevlever, M. Schultz, E. Pegoraro, R. C. Hoop and E. P. Hoffman

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550319

    5. Mulibrey nanism: Three additional patients and a review of 39 patients (pages 349–355)

      Dr. Pablo Lapunzina, José Ignacio Rodríguez, Elena de Matteo, Ricardo Gracia and Felipe Moreno

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550320

    6. SRY alone can induce normal male sexual differentiation (pages 356–358)

      Marisol López, Leda Torres, Juan P. Méndez, Alicia Cervantes, Guillermo Alfaro, Gregorio Pérez-Palacios, Robert P. Erickson and Susana Kofman-Alfaro

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550321

    7. Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females (pages 359–362)

      Dvorah Abeliovich, Judith Dagan, Chava Kimchi-Sarfaty and Joel Zlotogora

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550322

    8. Diabetic embryopathy: Possible pathogenesis (pages 363–366)

      Laurie S. Sadler, Luther K. Robinson and Michael E. Msall

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550323

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay (pages 367–371)

      Rochelle Bagatelle and Suzanne B. Cassidy

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550324

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome (pages 372–378)

      Aida Inbal, Nelly Avissar, Mati Shaklai, Arieh Kuritzky, Abel Schejter, Eitan Ben-David, Sara Shanske and Ben-Zion Garty

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550325

    2. De novo interstitial deletion q16.2q21 on chromosome 6 (pages 379–383)

      Amelia Villa, Miguel Urioste, Josep M. Bofarull and María-Luisa Martínez-Frías

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550326

  9. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. Germline mosaicism at the fragile X locus (pages 384–386)

      Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra, Marco Guida and Benedicta G. Enrile

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550327

  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2–p22.3 (pages 387–390)

      Francisco Martínez, Andreas Gal, Francisco Palau and Félix Prieto

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550328

  11. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. New case of axial mesodermal dysplasia spectrum (page 391)

      Dr. Jorge M. Saraiva

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550329

  12. Book Reviews

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
  13. Books Received

    1. Top of page
    2. Masthead
    3. Articles
    4. Letter to the Editors
    5. Articles
    6. New Syndrome?
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Letter to the Editors
    13. Book Reviews
    14. Books Received
    1. Books received (pages 394–395)

      Article first published online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550332

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