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American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

22 August 1997

Volume 71, Issue 3

Pages 251–374

Currently known as: American Journal of Medical Genetics Part A

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Letters to the Editor
    1. MODED: Microcephaly-oculo-digito-esophageal-duodenal syndrome (pages 251–257)

      Moshe Frydman, Miriam Katz, Susan G. Cabot, Galia Soen, Arie Kauschansky and Lea Sirota

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<251::AID-AJMG1>3.0.CO;2-X

    2. New autosomal-recessive syndrome of leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis (pages 258–266)

      Hiroaki Ehara, Chizuko Nakano, Kousaku Ohno, Yu-Ichi Goto and Kenzo Takeshita

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<258::AID-AJMG2>3.0.CO;2-Q

    3. Hyperlipidemia, insulin-dependent diabetes mellitus, and rapidly progressive diabetic retinopathy and nephropathy in Prader-Willi syndrome with del(15)(q11.2q13) (pages 267–270)

      Reda Bassali, William H. Hoffman, Harold Chen and Cathy M. Tuck-Muller

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<267::AID-AJMG3>3.0.CO;2-R

    4. Familial broad terminal phalanges with one individual showing additional anomalies (pages 271–274)

      Lorenzo Pavone, Giovanni Sorge, Vito Pavone, Renata Rizzo, Martino Ruggieri, Agata Polizzi and John M. Opitz

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<271::AID-AJMG4>3.0.CO;2-X

    5. Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24) (pages 275–279)

      Elizabeth C. R. Mickelson, Wendy P. Robinson, Monica A. Hrynchak and M.E. Suzanne Lewis

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<275::AID-AJMG5>3.0.CO;2-T

    6. Inheritance of familial congenital isolated anorectal malformations: Case report and review (pages 280–282)

      Daniella Landau, Jacov Mordechai, Michael Karplus and Rivka Carmi

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<280::AID-AJMG6>3.0.CO;2-Y

    7. Familial blomstrand chondrodysplasia with advanced skeletal maturation: Further delineation (pages 283–288)

      Ara Loshkajian, Joelle Roume, Victor Stanescu, Anne-lise Delezoide, Françoise Stampf and Pierre Maroteaux

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<283::AID-AJMG7>3.0.CO;2-V

    8. Relationship between medical genetics and public health: Changing the paradigm of disease prevention and the definition of a genetic disease (pages 289–291)

      Muin J. Khoury

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<289::AID-AJMG8>3.0.CO;2-P

    9. Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia (pages 292–297)

      Jeffrey W. Innis, James H. Asher, Jr., Yong Liang, Aihui Wang, Charles M. Wilke, Herman A. Dierick, Kristin Kazen-Gillespie, Susan Sheldon, Thomas W. Glover and Thomas B. Friedman

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<292::AID-AJMG9>3.0.CO;2-W

    10. Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism? (pages 298–304)

      Ron C. Michaelis, Steven A. Skinner, Rusty Deason, Cindy Skinner, C. Lynn Moore and Mary C. Phelan

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<298::AID-AJMG10>3.0.CO;2-F

    11. Mental retardation in Nance-Horan syndrome: Clinical and neuropsychological assessment in four families (pages 305–314)

      Annick Toutain, Anne-Dominique Ayrault and Claude Moraine

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<305::AID-AJMG11>3.0.CO;2-O

    12. Family history: A comprehensive genetic risk assessment method for the chronic conditions of adulthood (pages 315–324)

      Maren T. Scheuner, Sue-Jane Wang, Leslie J. Raffel, Susan K. Larabell and Jerome I. Rotter

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<315::AID-AJMG12>3.0.CO;2-N

    13. Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19 (pages 325–328)

      Philip D. Cotter, Leslie D. McCurdy, Irina F. Gershin, Arvind Babu, Judith P. Willner and Robert J. Desnick

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<325::AID-AJMG13>3.0.CO;2-M

    14. Fabry disease: Molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1 (pages 329–335)

      Michele Caggana, Grace A. Ashley, Robert J. Desnick and Christine M. Eng

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<329::AID-AJMG14>3.0.CO;2-M

    15. Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait (pages 336–340)

      Su-Min Gu, Ulrike Orth, Merve Zankl, Jutta Schröder and Andreas Gal

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<336::AID-AJMG15>3.0.CO;2-L

    16. Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred (pages 341–347)

      Stephen Robertson, Tania Gunn, Bruce Allen, Cyril Chapman and David Becroft

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<341::AID-AJMG16>3.0.CO;2-K

    17. Progressive diaphyseal dysplasia: A three-generation family with markedly variable expressivity (pages 348–352)

      Jorge M. Saraiva

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<348::AID-AJMG17>3.0.CO;2-K

    18. Proximal interstitial 6q deletion: A recognizable syndrome (pages 353–356)

      Rajesh Kumar, Diane Riordan, Angelika J. Dawson and Albert E. Chudley

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<353::AID-AJMG18>3.0.CO;2-J

    19. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene (pages 357–360)

      Cherie Bond, Xiaoli Si, Margaret Crisp, Paul Wong, George W. Paulson, Carl P. Boesel, Stephen R. Dlouhy and M. E. Hodes

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<357::AID-AJMG19>3.0.CO;2-J

    20. Duplication 14(q24.3q31) in a father and daughter: Delineation of a possible imprinted region (pages 361–365)

      Nathaniel H. Robin, Amalia Harari-Shacham, Stuart Schwartz and Daynna J. Wolff

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<361::AID-AJMG20>3.0.CO;2-H

    21. Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability (pages 366–370)

      F. Zolezzi, M. Valli, M. Clementi, I. Mammi, G. Cetta, P. F. Pignatti and M. Mottes

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<366::AID-AJMG21>3.0.CO;2-H

  2. Letters to the Editor

    1. Top of page
    2. Research Articles
    3. Letters to the Editor
    1. Use of MRI in genetic studies of endometriosis (pages 371–372)

      Stephen Kennedy, Ruth Hadfield, David Barlow, Daniel E. Weeks, Euan Laird and Stephen Golding

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<371::AID-AJMG22>3.0.CO;2-G

    2. Thomas syndrome: Clinical variability and autosomal recessive inheritance (pages 373–374)

      Vincenza Briscioli, Faustina Lalatta, Tommaso Rizzuti and Vlasta Fesslová

      Article first published online: 6 DEC 1998 | DOI: 10.1002/(SICI)1096-8628(19970822)71:3<373::AID-AJMG23>3.0.CO;2-G

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