• Issue

    American Journal of Medical Genetics: Volume 90, Issue 2

    95-184
    17 January 2000
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Genetic Drift

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Erin, before I knew her

Robert W. Marion, 
  • Pages: 95-97
  • First Published: 03 March 2000
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Ultrasound screening for fetal chromosome anomalies

Arie Drugan,  Mark P. Johnson,  Mark I. Evans, 
  • Pages: 98-107
  • First Published: 03 March 2000
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Unique frequency of known mutations in Brazilian MPS I patients

Ursula Matte,  Sandra Leistner,  Luciane Lima,  Ida Schwartz,  Roberto Giugliani, 
  • Pages: 108-109
  • First Published: 03 March 2000
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Infantile refsum disease in four Amish sibs

Patricia I. Bader,  Susannah Dougherty,  Nancy Cangany,  Gerald Raymond,  Charles E. Jackson, 
  • Pages: 110-114
  • First Published: 03 March 2000
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Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p

C. Hallermann,  G. Mücher,  N. Kohlschmidt,  B. Wellek,  R. Schumacher,  F. Bahlmann,  P. Shahidi-Asl,  U. Theile,  S. Rudnik-Schöneborn,  H. Müntefering,  K. Zerres, 
  • Pages: 115-119
  • First Published: 03 March 2000
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Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)

Ayala Aviram-Goldring,  Michal Daniely,  Moshe Frydman,  Yona Shneyour,  Hannah Cohen,  Gad Barkai, 
  • Pages: 120-122
  • First Published: 03 March 2000
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Analysis of all exons of tsc1 and tsc2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations

Yokihiko Yamashita,  Jiro Ono,  Shintaro Okada,  Mari Wataya-Kaneda,  Kunihiko Yoshikawa,  Masae Nishizawa,  Youko Hirayama,  Etuko Kobayashi,  Kuniaki Seyama,  Okio Hino, 
  • Pages: 123-126
  • First Published: 03 March 2000

Brief Clinical Report

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Chudley-Mccullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities

Edmond G. Lemire,  Gwendolyn P. Stoeber, 
  • Pages: 127-130
  • First Published: 03 March 2000
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Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review

Enikö K. Pivnick,  Brad Angle,  Robert A. Kaufman,  Bryan D. Hall,  Pisit Pitukcheewanont,  Joseph H. Hersh,  John L. Fowlkes,  Lynda P. Sanders,  John M. O'Brien,  Gregory S. Carroll,  Wendy M. Gunther,  Helen G. Morrow,  George A. Burghen,  Jewell C. Ward, 
  • Pages: 131-140
  • First Published: 03 March 2000
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Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population

Takayuki Kudo,  Katsuhisa Ikeda,  Shigeo Kure,  Yoichi Matsubara,  Takeshi Oshima,  Ken-ichi Watanabe,  Tetsuaki Kawase,  Kuniaki Narisawa,  Tomonori Takasaka, 
  • Pages: 141-145
  • First Published: 03 March 2000

Brief Clinical Report

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Knobloch syndrome involving midline scalp defect of the frontal region

Lisa C. Sniderman,  Robert K. Koenekoop,  Augustin M. O'Gorman,  Robert H. Usher,  Maria R. Sufrategui,  Brenda Moroz,  Gordon V. Watters,  Vazken M. Der Kaloustian, 
  • Pages: 146-149
  • First Published: 03 March 2000
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Ophthalmo-acromelic syndrome: Report and review

Mustafa Tekin,  Ercan Tutar,  Saadet Arsan,  Gülsüm Atay,  Joann Bodurtha, 
  • Pages: 150-154
  • First Published: 03 March 2000
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Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients

Rick A. Martin,  Valerie Hunter,  Whitney Neufeld-Kaiser,  Pamela Flodman,  M. Anne Spence,  David Furnas,  Kimberly A. Martin, 
  • Pages: 155-161
  • First Published: 03 March 2000
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Ring chromosome 8 syndrome: Further characterization

Vijay S. Tonk,  Mary K. Kukolich,  David Morgan,  Ashraf Khan,  Syed M. Jalal, 
  • Pages: 162-164
  • First Published: 03 March 2000
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Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21

N.M. Ghiasvand,  A.B. Kanis,  C. Helms,  V.C. Sheffield,  E.M. Stone,  H. Donis-Keller, 
  • Pages: 165-168
  • First Published: 03 March 2000

Conference Report

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Summary of the association of professors of human and medical genetics fourth annual workshop

Robert J. Desnick,  Bruce Korf,  Miriam G. Blitzer,  Robert Saul, 
  • Pages: 169-172
  • First Published: 03 March 2000

Letter to the Editor

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Waardenburg anophthalmia syndrome: Report and review

Özgür Cogulu,  Ferda Ozkinay,  Cumhur Güundüz,  Gül Sapmaz,  Cihangir Ozkinay, 
  • Pages: 173-174
  • First Published: 03 March 2000
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Mosaicism in Prader-Willi syndrome

Robert D. Nicholls, 
  • Pages: 175-176
  • First Published: 03 March 2000
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Reply to letter to the editor by Nicholls—“mosaicism in Praeder-Willi syndrome”

Patricia A. Mowery-Rushton,  Jeanne M. Hanchett,  William B. Zipf,  Peter K. Rogan,  Urvashi Surti, 
  • Page: 177
  • First Published: 03 March 2000

Book Review

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Basic human genetics

L.B. Jorde, 
  • Page: 178
  • First Published: 03 March 2000

Rapid Publication

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Adult syndrome allelic to limb mammary syndrome (LMS)?

Peter Propping,  Waltraut Friedl,  Thomas F. Wienker,  Siegfried Uhlhaas,  Klaus Zerres, 
  • Pages: 179-182
  • First Published: 03 March 2000

Editorial Comment

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Getting a LEAD on EEC

Michael Bamshad,  Lynn B. Jorde,  John C. Carey, 
  • Pages: 183-184
  • First Published: 03 March 2000