American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 October 1994

Volume 53, Issue 1

Pages fmi–fmi, 1–97

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. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530101

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Detection of sex chromosomal aneuploidies X-X, Y-Y, and X-Y in human sperm using two-chromosome fluorescence in situ hybridization (pages 1–7)

      Andrew J. Wyrobek, Wendie A. Robbins, Yasmin Mehraein, Dan Pinkel and H.-U. Weier

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530102

    2. Identification of marker chromosomes in thirteen patients using FISH probing (pages 8–18)

      Dr. Art Daniel, Paul Malafiej, Kerrie Preece, Nicole Chia, John Nelson and Meryl Smith

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530103

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Lessons on objectivity in clinical studies (pages 19–20)

      Elizabeth A. Harvey, Ailish M. Hayes and Lewis B. Holmes

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320530104

    2. OEIS complex with craniofacial anomalies—defect of blastogenesis? (pages 21–23)

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

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530105

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Microscopic neuroblastoma in a fetus with a de novo unbalanced translocation 3;10 (pages 24–28)

      Faisal Qureshi, Suzanne M. Jacques, Mark P. Johnson, Avihai Reichler and Mark I. Evans

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530106

    2. On the inheritance of the split hand/split foot malformation (pages 29–32)

      Joël Zlotogora

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530107

    3. Recurrence of diaphragmatic agenesis associated with multiple midline defects: Evidence for an autosomal gene regulating the midline (pages 33–38)

      Lynne M. Bird, Robert O. Newbury, Rodolfo Ruiz-Velasco and Marilyn C. Jones

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320530108

    4. Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation (pages 39–45)

      Karen M. Gustashaw, Vickie Zurcher, Lois H. Dickerman, Richard Stallard and Huntington F. Willard

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530109

    5. Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis (pages 46–51)

      Dr. María Luisa Martínez-Frías, Eva Bermejo, Angel García, Enrique Galín and Luis Prieto

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530110

    6. Monozygotic twins of different apparent sex (pages 52–55)

      Yukifumi Yokota, Atsushi Akane, Nobuyuki Fujino, Yoshiaki Sato, Akira Matsunobu, Nobuo Matsuura, Tohru Maeda, Mamoru Tadokoro, Yutaka Nakahori and Yasuo Nakagome

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530111

  5. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Hypertrichosis “cubiti” with facial asymmetry (pages 56–58)

      Matthew J. Edwards, Anthony E. Crawford, Vapinder Jammu and Graham Wise

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320530112

  6. Historical Essay

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Earliest description by Johann Friedrich Meckel, Senior (1750) of What is known today as Lutembacher syndrome (1916) (pages 59–64)

      Professor DR. med. Drs. h.c. Hans-Rudolf Wiedemann

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530113

  7. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1 (pages 65–71)

      M. J. Edwards, C. J. Challinor, P. W. Colley, J. Roberts, M. W. Partington, G. E. Hollway, H. M. Kozman and J. C. Mulley

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530114

    2. Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family (pages 72–74)

      Dr. J.-M. Berthelot, Y. Maugars, N. Robillard, O. Pascal, J.-F. Stalder, A. David and A. Prost

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530115

    3. Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred (pages 75–80)

      Eleanor Dow, Sean Cross, Debra J. Wolgemuth, Stanislas Lyonnet, Lois M. Mulligan, Maria Mascari, Roger Ladda and Robert Williamson

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320530116

  8. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Brachytelephalangic chondrodysplasia punctata in an extremely premature infant (pages 81–82)

      Sahar Mansour, Deborah Liberman and Dr. Ian Young

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530117

    2. “Autistic” behavior in two children with Williams-Beuren syndrome (pages 83–84)

      Dr. phil. Angela Gosch and Rainer Pankau

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530118

    3. Varadi syndrome or Opitz trigonocephaly: Overlapping manifestation in two cousins (pages 85–86)

      Dr. Agnes Bankier and Catherine M. Rose

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320530119

    4. Reply to Drs. Rose and Bankier: OFD VI and C syndromes (pages 87–88)

      Roxana Cleper, Arieh Kavschansky, Itzhak Varsano and Moshe Frydman

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530120

    5. Ectrodactyly and 7q22.1 (page 89)

      Dr. Horacio Rivera

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530121

    6. Reply to Dr. Rivera: Split hand/split foot anomaly and 7q22.1 (page 90)

      Dr. Maurizio Genuardi and Giovanni Neri

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530122

    7. Esophageal stenosis in Acrocephalosyndactyly type I (page 91)

      Prof. Dr. Lothar Pelz, Katrin Unger and Michael Radke

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530123

    8. New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry (pages 94–96)

      Elizabeth Berry-Kravis, Rong Mao, Rita Ciurlionis and Abby Adams

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530125

  9. Books Received

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Historical Essay
    8. Articles
    9. Letter to the Editors
    10. Books Received
    1. Books Received (page 97)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320530126

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