• Issue

    Clinical Genetics: Volume 44, Issue 6

    281-340
    December 1993
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Original Article

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Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations

A. M. N. Hanssen,  H. Werquin,  E. Suys,  J. P. Fryns, 
  • Pages: 281-286
  • First Published: December 1993
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Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression

John C. S. Dean,  E. S. Gray,  K. N. Stewart,  T. Brown,  D. J. Lloyd,  N. C. Smith,  F. M. Pope, 
  • Pages: 287-291
  • First Published: December 1993
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Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and myocardial infarction

M. Bøhn,  K. E. Berge,  A. Bakken,  J. Erikssen,  K. Berg, 
  • Pages: 292-297
  • First Published: December 1993
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Insertion /deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and parental history of myocardial infarction

M. Bøhn,  K. E. Berge,  A. Bakken,  J. Erikssen,  K. Berg, 
  • Pages: 298-301
  • First Published: December 1993
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Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy

Kohji Itoh,  Masaharu Kotani,  Tadashi Tai,  Hiroshi Suzuki,  Toru Utsunomiya,  Hisako Inoue,  Hideo Yamada,  Hitoshi Sakuraba,  Yoshiyuki Suzuki, 
  • Pages: 302-306
  • First Published: December 1993
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Adenine for guanine substitution — pairs 5‘ to the apolipoprotein (APO) A4 gene: relation with hgh density lipoprotein cholesterol and APO A-I concentrations

Fernando Civeira,  Miguel Pocovi,  Ana Cenarro,  Carmen Garces,  Jose M. Ordovas, 
  • Pages: 307-312
  • First Published: December 1993
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A mild form of mucolipidosis type III in four Baluch siblings

Chandra Ward,  Rashmi Singh,  Christina Slade,  A. H. Fensom,  A. Fahmy,  A. Semrin,  A. Sjövall,  A. Talat,  A. Hasilik,  I. Klein,  P. F. Benson, 
  • Pages: 313-319
  • First Published: December 1993
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Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

A. Chabás,  S. Castellvi,  M. Bayés,  S. Balcells,  D. Grinberg,  Ll. Vilageliu,  G. Marfany,  W. Lissens,  R. Gonzàlez-Duarte, 
  • Pages: 320-323
  • First Published: December 1993
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11q trisomy detected by fluorescence in situ hybridization

Takako Takano,  Yasuko Yamanouchi,  Shoko Kawashima,  Masatsune Date,  Shintaro Hashira,  Mitsushiro Kida,  Toshiaki Abe,  Yutaka Nakahori,  Yasuo Nakagome, 
  • Pages: 324-328
  • First Published: December 1993
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Disease profile of 400 institutionalized mentally retarded patients in Kuwait

T. I. Farag,  S. A. Al-Awadi,  M. H. El-Badramary,  M. A. Aref,  B. Kasrawi,  D. S. Krishna Murthy,  M. Y. El-Khalifa,  G. Yadav,  M. J. Marafie,  L. Bastaki,  R. A. Wahba,  F. M. Mohammed,  S. Abul Hassan,  A. A. Redha,  M. A. Redha,  H. Al-Aboud,  S. Al-Hijji,  D. Al-Dighashem,  N. Al-Hashash,  L. Al-Jeryan,  H. Al-Khorafi,  E. A. Qurban,  I. Al-Sulaiman, 
  • Pages: 329-334
  • First Published: December 1993

Case Report

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De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)

Nathaniel H. Robin,  Mark Magnusson,  Donna McDonald-McGinn,  Elaine H. Zackai,  Nancy B. Spinner, 
  • Pages: 335-337
  • First Published: December 1993
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Twins and their mildly affected mother with Weaver syndrome

M. Dumić,  J. Vuković,  M. Cvitković,  I. Medica, 
  • Pages: 338-340
  • First Published: December 1993