• Issue

    American Journal of Medical Genetics: Volume 102, Issue 1

    1-108
    22 July 2001
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Research Articles

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SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature†

Luisa Nanni,  Jeffrey E. Ming,  Yangzhu Du,  Roger K. Hall,  Michael Aldred,  Agnes Bankier,  Maximilian Muenke, 
  • Pages: 1-10
  • First Published: 05 July 2001
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Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Lisa L. Wang,  Moise L. Levy,  Richard A. Lewis,  Murali M. Chintagumpala,  Dorit Lev,  Maureen Rogers,  Sharon E. Plon, 
  • Pages: 11-17
  • First Published: 05 July 2001
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Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

Małgorzata J.M. Nowaczyk,  Donna McCaughey,  Donald T. Whelan,  Forbes D. Porter, 
  • Pages: 18-20
  • First Published: 05 July 2001
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Analysis of the EPHX1 113 polymorphism and GSTM1 homozygous null polymorphism and oral clefting associated with maternal smoking

James K. Hartsfield Jr.,  Todd A. Hickman,  Eric T. Everett,  Gary M. Shaw,  Edward J. Lammer,  Richard A. Finnell, 
  • Pages: 21-24
  • First Published: 05 July 2001

Brief Clinical Report

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Maternal origin of a unique extra chromosome, der(9)(pter→q13::q13→q12:) in a girl with typical trisomy 9p syndrome

Michio Teraoka,  Koji Narahara,  Yuji Yokoyama,  Shinsuke Ninomiya,  Shoko Mizuta,  Tomoka Une,  Yoshiki Seino, 
  • Pages: 25-28
  • First Published: 05 July 2001
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Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)]

R. Zannolli,  R. Mostardini,  L. Pucci,  L. Sorrentino,  M. Biagioli,  R. Perotti,  M. Guarna,  T. Hadjistilianou,  G. Zerega,  M. Pierluigi,  B. Franco,  A. D'Ambrosio,  G. Morgese, 
  • Pages: 29-35
  • First Published: 05 July 2001

Research Articles

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Parental consanguinity in specific types of congenital anomalies

Mónica Rittler,  Rosa Liascovich,  Jorge López-Camelo,  Eduardo E. Castilla, 
  • Pages: 36-43
  • First Published: 05 July 2001
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Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First report of an affected male and review of literature

A. Micheil Innes,  Albert E. Chudley,  Martin H. Reed,  E. Paul Shuckett,  G. Elske Hildes-Ripstein,  Cheryl R. Greenberg, 
  • Pages: 44-47
  • First Published: 05 July 2001
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Variation in genetic and environmental influences in serum lipid and apolipoprotein levels across the lifespan in Swedish male and female twins

Anastasia Iliadou,  Paul Lichtenstein,  Ulf de Faire,  Nancy L. Pedersen, 
  • Pages: 48-58
  • First Published: 05 July 2001

Brief Clinical Report

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Systemic lupus erythematosus in a man with Noonan syndrome

Donna M. Martin,  Charisse F. Gencyuz,  Elizabeth M. Petty, 
  • Pages: 59-62
  • First Published: 05 July 2001

Brief Clinical Reports

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Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: A new autosomal recessive MCA/MR syndrome?

Tatsuro Kondoh,  Toyohiko Yamamoto,  Yoshiyasu Kono,  Tadashi Matsumoto,  Hirobumi Sugawara,  Naomichi Matsumoto,  Hiroyuki Moriuchi, 
  • Pages: 63-67
  • First Published: 05 July 2001

Research Articles

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Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci

H. Patel,  P.E. Hart,  T. Warner,  I. Allen,  H.E. Phillimore,  J.R. Silver,  N.W. Wood,  S. Jeffery,  M.A. Patton,  A.H. Crosby, 
  • Pages: 68-72
  • First Published: 05 July 2001

Brief Clinical Reports

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Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome

Maik Urban,  John Hartung, 
  • Pages: 73-75
  • First Published: 05 July 2001

Research Articles

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Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

Philip D. Cotter,  Sara Kaffe,  Lei Li,  Irina F. Gershin,  Kurt Hirschhorn, 
  • Pages: 76-80
  • First Published: 05 July 2001
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Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26)

Thomas Reinehr,  Anna Jauch,  Barbara Zoll,  Ute Engel,  Iris Bartels,  Werner Andler, 
  • Pages: 81-85
  • First Published: 05 July 2001
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Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

Lucille Voullaire,  Richard Saffery,  Elizabeth Earle,  Danielle V. Irvine,  Howard Slater,  Sue Dale,  Desiree du Sart,  Tracy Fleming,  K.H. Andy Choo, 
  • Pages: 86-94
  • First Published: 05 July 2001
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Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II

Lee-Jun C. Wong,  Pu Dai,  Duanjun Tan,  Mark Lipson,  Art Grix,  Mara Sifry-Platt,  Andrea Gropman,  Tian-Jian Chen, 
  • Pages: 95-99
  • First Published: 05 July 2001
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Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome

Marija Tadin,  Elizabeth Braverman,  Stefano Cianfarani,  Antonio J. Sobrino,  Brynn Levy,  Angela M. Christiano,  Dorothy Warburton, 
  • Pages: 100-104
  • First Published: 05 July 2001

Letter to the Editor

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Comments on neurofibromatosis 1 and optic pathway tumors

Robert Listernick,  Joel Charrow,  David H. Gutmann, 
  • Page: 105
  • First Published: 05 July 2001
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Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder

Martina Witsch-Baumgartner,  Judith Loeffler,  Hans-Jürgen Menzel,  Gerd Utermann,  Cordula Neuhaus, 
  • Pages: 106-107
  • First Published: 05 July 2001

Erratum

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Weymann S, Yonekawa Y, Khan N, Martin E, Heppner FL, Schinzel A, Kotzot D. 2001. Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? Am J Med Genet 99:190–195

  • Page: 108
  • First Published: 05 July 2001