American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 December 1992

Volume 44, Issue 6

Pages fmi–fmi, 705–864

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 Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440601

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Autosomal dominant insulin resistance syndrome due to a postbinding defect (pages 705–712)

      MUDr. E. Seemanová, H. W. Rüdiger and M. Dreyer

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440602

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Late diagnosis of phenylketonuria in a bedouin mother (pages 713–715)

      Dr. R. Usha, R. Uma, T. I. Farag, Y. Girish, M. M. A. Al-Ghanim, K. Al-Najdi, S. A. Al-Awadi and M. H. El-Badramany

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440603

    2. Rapadilino syndrome (pages 716–719)

      Fernando Regla Vargas, Dr. José Carlos Cabral de Almeida, Juan Clinton Llerena Jr. and Dimas Fagundes Reis

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440604

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Williams syndrome in adults (pages 720–729)

      E. Lopez-Rangel, M. Maurice, B. McGillivray and Dr. J. M. Friedman

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440605

    2. Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: A new autosomal dominant bone disorder (pages 730–737)

      Piranit N. Kantaputra, Robert J. Gorlin and Leonard O. Langer Jr.

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440606

    3. Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity (pages 738–753)

      J. Bonaventure, R. Stanescu, V. Stanescu, J. C. Allain, M. P. Muriel, D. Ginisty and P. Maroteaux

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440607

    4. Choanal atresia: Evidence for autosomal recessive inheritance (pages 754–756)

      Ruth Gershoni-Baruch

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440608

    5. New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects (pages 757–761)

      L. T. Middleton, V. Anastasiades, K. Panayidou, D. Georghiou, E. Kalli, G. Gabriel and N. C. Myrianthopoulos

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440609

    6. Huntington disease in black Zimbabwean families living near the Mozambique border (pages 762–766)

      Dr. Euan M. Scrimgeour and John W. Pfumojena

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440610

    7. Upper limb deficiencies and associated malformations: A population-based study (pages 767–781)

      Dr. Ursula G. Froster and Patricia A. Baird

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440611

    8. Congenital defects of the limbs and alcohol exposure in pregnancy: Data from a population based study (pages 782–785)

      Dr. Ursula G. Froster and Patricia A. Baird

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440612

  5. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Delayed membranous cranial ossification in a mother and child (pages 786–789)

      Ariadna Gonzalez-del Angel, Dra. Alessandra Carnevale and Raul Takenaga

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440613

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Tricho-Rhino-Phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion (pages 790–794)

      Feliciano J. Ramos, Donna M. McDonald-McGinn, Beverly S. Emanuel and Elaine H. Zackai

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440614

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Chondrodysplasia punctata: Another possible X-linked recessive case (pages 795–799)

      C. P. Bennett, A. Caroline Berry, D. J. Maxwell and Dr. Mary J. Seller

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440615

    2. Acro-fronto-facio-nasal dysostosis: Report of a new brazilian family (pages 800–802)

      A. Richieri-Costa, M. L. Guion-Almeida and Nina A. B. Pagnan

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440616

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Urinary tract involvement in EEC syndrome: A clinical study in 25 Brazilian patients (pages 803–806)

      Aguinaldo C. Nardi, Ubirajara Ferreira, Nelson Rodrigues Netto Jr., Luis Alberto Magna, E. S. O. Rodini and A. Richieri-Costa

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440617

    2. Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome (pages 807–812)

      P. Franceschini, M. P. Vardeu, L. Dalforno, F. Signorile, D. Franceschini, R. Lala and P. Matarazzo

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440618

  9. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. VATER/VACTERL association: Clinical variability and expanding phenotype including laryngeal stenosis (pages 813–815)

      Dott. Giovanni Corsello, Emiliano Maresi, Anna Maria Corrao, Ubaldo Dimita, Manlio Lo Cascio, Marina Cammarata and Liborio Giuffrè

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440619

  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Cytogenetic guidelines for fragile X studies tested in routine practice (pages 816–821)

      Gordon W. Dewald, Diane D. Buckley, Jack L. Spurbeck and Syed M. Jalal

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440620

  11. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Prenatal exclusion of choroideremia (pages 822–823)

      J. A. J. M. van den Hurk, P. M. van Zandvoort, F. Brunsmann, I. H. Pawlowitzki, W. Holzgreve, P. Szabo, F. P. M. Cremers and B. A. van Oost

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440621

  12. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. False-negative prenatal diagnosis of restrictive dermopathy (pages 824–826)

      B. C. J. Hamel, R. Happle, P. M. Steylen, L. A. A. Kollée, J. H. Schuurmans Stekhoven, J. G. Nijhuis, R. Rauskolb and I. Anton-Lamprecht

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440622

    2. Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: Report of a case with thumb hypoplasia (pages 827–829)

      M. Lerone, M. Soliani, D. Corea, G. Romeo, G. Martucciello and M. C. Silengo

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440623

    3. Infantile autism—fragile X: Molecular findings support genetic heterogeneity (pages 830–833)

      Helena Malmgren, Karl-Henrik Gustavson, Jan Wahlström, Ingrid Arpi-Henriksson, Jurgen Bensch, Ulf Pettersson and Dr. Niklas Dahl

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440624

    4. Female twin with hunter disease due to nonrandom inactivation of the X-chromosome: A consequence of twinning (pages 834–838)

      Dr. Bryan Winchester, Elisabeth Young, Stella Geddes, Sally Genet, Jane Hurst, Helen Middelton-Price, Nicola Williams, Michael Webb, Alex Habel and Susan Malcolm

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440625

  13. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Familial male breast cancer (pages 839–840)

      Alan R. Hauser, Irving J. Lerner and Richard A. King

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440626

    2. Regarding corsello et al (page 841)

      Dr. A. S. Knisely

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440627

    3. Reply to Drs. Machin and Knisely (page 843)

      Dr. Giovanni Corsello

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440629

    4. Comment on the paper of Qumsiyeh et al. (Am J Med Genet 41: 99–101, 1991) (pages 844–845)

      Dr. Leopoldo Zelante, Rita Mingarelli and Bruno Dallapiccola

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440630

    5. Reply to Zelante et al (page 846)

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

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440631

    6. Anorectal and esophageal anomalies with down syndrome (page 847)

      Dr. Claudine P. Torfs, Thomas F. Bateson and Cynthia J. R. Curry

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440632

    7. Anorectal and esophageal anomalies in down syndrome (pages 848–849)

      Dr. María-Luisa Martínez-Frías, Miguel Urioste, Ana Cereijo and Elvira Rodríguez-Pinilla

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440633

    8. Duty to disclose (page 851)

      Dr. Digamber S. Borgaonker

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440635

    9. Duty to disclose: Response to Dr. Borgaonkar (pages 852–853)

      Dr. Mary Z. Pelias

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440636

    10. Response to Prof. Frézal (page 855)

      Dr. Gillian Turner

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440638

  14. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letters to the Editor
    15. Articles
    1. Limb anomalies following chorionic villus sampling: A registry based case-control study (pages 856–864)

      Pierpaolo Mastroiacovo, Lorenzo Davide Botto, Denise Pontes Cavalcanti, Faustina Lalatta, Angelo Selicorni, Alberto Eugenio Tozzi, Dante Baronciani, Anna Chiara Cigolotti, Sergio Giordano, Fabio Petroni and Francesco Puppin

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440639

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