• Issue

    American Journal of Medical Genetics: Volume 101, Issue 3

    187-288
    1 July 2001
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Research Articles

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Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3

T. Roscioli,  S. Flanagan,  R.J. Mortimore,  P. Kumar,  D. Weedon,  J. Masel,  R. Lewandowski,  V. Hyland,  I.A. Glass, 
  • Pages: 187-194
  • First Published: 11 May 2001
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Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings

Yehuda Senecky,  Gabrielle J. Halpern,  Dov Inbar,  Joseph Attias,  Mordechai Shohat, 
  • Pages: 195-197
  • First Published: 04 May 2001
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SMN2-deletion in childhood-onset spinal muscular atrophy

Sandhya Srivastava,  Monisha Mukherjee,  Inusha Panigrahi,  Gouri Shanker Pandey,  Sunil Pradhan,  Balraj Mittal, 
  • Pages: 198-202
  • First Published: 17 May 2001
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Metachromatic leukodystrophy in the Navajo: Fallout of the American-Indian wars of the Nineteenth Century†‡

Steve Holve,  Diana Hu,  Shawn E. McCandless, 
  • Pages: 203-208
  • First Published: 04 May 2001
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Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia

Alain Verloes,  Marie-Françoise Dresse,  Henri Keutgen,  Charlotta Asplund,  C.I. Edvard Smith, 
  • Pages: 209-212
  • First Published: 11 May 2001
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Gerodermia osteodysplastica and wrinkly skin syndrome: Are they the same?

L.I. Al-Gazali,  L. Sztriha,  F. Skaff,  D. Haas, 
  • Pages: 213-220
  • First Published: 04 May 2001

Brief Clinical Report

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Chest wall hamartoma with Wiedemann-Beckwith syndrome: Clinical report and brief review of chromosome 11p15.5-related tumors

Roy E. Jonas,  Virginia E. Kimonis, 
  • Pages: 221-225
  • First Published: 11 June 2001

Research Articles

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Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18

Paweł Stankiewicz,  Izabela Brozek,  Zofia Hélias-Rodzewicz,  Jolanta Wierzba,  Jacek Pilch,  Ewa Bocian,  Anna Balcerska,  Agnieszka Woźniak,  Iwona Kardaś,  Jutta Wirth,  Tadeusz Mazurczak,  Janusz Limon, 
  • Pages: 226-239
  • First Published: 11 June 2001

Brief Clinical Report

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Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome

Emily Chen,  Philip D. Cotter,  Ronald A. Cohen,  Ralph S. Lachman, 
  • Pages: 240-245
  • First Published: 17 May 2001

Research Articles

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Smoking, folate and methylenetetrahydrofolate reductase status as interactive determinants of adenomatous and hyperplastic polyps of colorectum

Arve Ulvik,  Espen Thiis Evensen,  Ernst A. Lien,  Geir Hoff,  Stein Emil Vollset,  Bernhard M. Majak,  Per Magne Ueland, 
  • Pages: 246-254
  • First Published: 11 May 2001
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Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: A new syndrome?

Karsten Haug,  Nicolai Kohlschmidt,  Mirjam Dereser-Dennl,  Judith Zielinski,  Eberhard Merz,  Dieter Schäfer, 
  • Pages: 255-258
  • First Published: 11 June 2001

Brief Clinical Report

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Candidate region for Gilles de la Tourette syndrome at 7q31

Peter M. Kroisel,  Erwin Petek,  Werner Emberger,  Christian Windpassinger,  Wolfgang Wladika,  Klaus Wagner, 
  • Pages: 259-261
  • First Published: 11 June 2001

Research Articles

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Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood

Enrico Parano,  Ernesto Falcidia,  Agata Grillo,  Piero Pavone,  Nunzio Cutuli,  Haruo Takabayashi,  Rosario R. Trifiletti,  Conrad T. Gilliam, 
  • Pages: 262-267
  • First Published: 04 May 2001
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Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia

Karen W. Gripp,  Donna M. McDonald-McGinn,  Don La Rossa,  David McGain,  Noah Federman,  Adrianna Vlachos,  Bertil E. Glader,  Steven E. McKenzie,  Jeffrey M. Lipton,  Elaine H. Zackai, 
  • Pages: 268-274
  • First Published: 04 May 2001
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Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies

Margherita Silengo,  Angelo Del Monaco,  Alessandra Linari,  Roberto Lala, 
  • Pages: 275-278
  • First Published: 11 June 2001

New Syndrome?

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Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: New acrocraniofacial dysostosis syndrome?

Nouriya Al-Sannaa,  C.R. Forrest,  Ahmad S. Teebi, 
  • Pages: 279-282
  • First Published: 17 May 2001

Letter to the Editor

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Comment on Traupe's tribute to Rudolf Happle

Leslie J. Sheffield, 
  • Page: 283
  • First Published: 11 June 2001
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Congenital human baculum deficiency: The generative bone of Genesis 2:21–23

Scott F. Gilbert,  Ziony Zevit, 
  • Pages: 284-285
  • First Published: 22 May 2001
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Homozygous α-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the θ1-globin gene on 16p13.3 is compensated by its duplicate θ2 on chromosome 10

Boris Utsch,  Norbert Albers,  Christof Dame,  Peter Bartmann,  Michael J. Lentze,  Michael Ludwig, 
  • Pages: 286-287
  • First Published: 17 May 2001
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Interface between Robin sequence and ordinary cleft palate

M. Michael Cohen Jr., 
  • Page: 288
  • First Published: 08 May 2001