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January 1994 (Volume 31, Number 1). [Index by author]

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Miscellaneous

Correction
J Med Genet 1994; 31: 88. doi:10.1136/jmg.31.1.88 [PDF] [Request Permissions]

Abstracts

Medical genetics: advances in brief
W Reardon
J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83 [PDF] [Request Permissions]

Medical genetics: advances in brief: Diagnosis of human genetic disease using recombinant DNA. Fourth edition
J C K Barber
J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83-a [PDF] [Request Permissions]

Medical genetics: advances in brief: The fish odour syndrome: biochemical, familial, and clinical aspects
A M Norman
J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Wolfram syndrome: a mitochondrial-mediated disorder?
W Reardon
J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
A Wilkie
J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83-d [PDF] [Request Permissions]

Book Reviews

PCR Protocols—Current Methods and Applications
Andrew J Walley
J Med Genet 1994; 31: 87. doi:10.1136/jmg.31.1.87 [PDF] [Request Permissions]

The Molecular and Genetic Basis of Neurological Disease
John C Macmillan
J Med Genet 1994; 31: 87. doi:10.1136/jmg.31.1.87-a [PDF] [Request Permissions]

Research Article

Mouse homologues of human hereditary disease.
A G Searle, J H Edwards, and J G Hall
J Med Genet 1994; 31: 1-19. doi:10.1136/jmg.31.1.1 [Abstract] [PDF] [Request Permissions]

Sotos syndrome: a study of the diagnostic criteria and natural history.
T R Cole and H E Hughes
J Med Genet 1994; 31: 20-32. doi:10.1136/jmg.31.1.20 [Abstract] [PDF] [Request Permissions]

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.
C Lavedan, H Hofmann-Radvanyi, C Boileau, C Bonaïti-Pellié, D Savoy, P Shelbourne, C Duros, J P Rabes, I Dehaupas, and S Luce
J Med Genet 1994; 31: 33-36. doi:10.1136/jmg.31.1.33 [Abstract] [PDF] [Request Permissions]

Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats.
A Goldman, M Ramsay, and T Jenkins
J Med Genet 1994; 31: 37-40. doi:10.1136/jmg.31.1.37 [Abstract] [PDF] [Request Permissions]

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.
P M Matthews, J Hopkin, R M Brown, J B Stephenson, D Hilton-Jones, and G K Brown
J Med Genet 1994; 31: 41-44. doi:10.1136/jmg.31.1.41 [Abstract] [PDF] [Request Permissions]

Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder.
S Nørby, P Lestienne, I Nelson, I M Nielsen, H Schmalbruch, O Sjö, and M Warburg
J Med Genet 1994; 31: 45-50. doi:10.1136/jmg.31.1.45 [Abstract] [PDF] [Request Permissions]

Ascertainment and severity of Marfan syndrome in a Scottish population.
J R Gray, A B Bridges, M J Faed, T Pringle, P Baines, J Dean, and M Boxer
J Med Genet 1994; 31: 51-54. doi:10.1136/jmg.31.1.51 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis.
S V Hodgson, D T Bishop, and B Jay
J Med Genet 1994; 31: 55-58. doi:10.1136/jmg.31.1.55 [Abstract] [PDF] [Request Permissions]

The spectrum of beta thalassaemia mutations in the UAE national population.
R Quaife, L al-Gazali, S Abbes, P Fitzgerald, A Fitches, D Valler, and J M Old
J Med Genet 1994; 31: 59-61. doi:10.1136/jmg.31.1.59 [Abstract] [PDF] [Request Permissions]

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
S P Horslen, O W Quarrell, and M S Tanner
J Med Genet 1994; 31: 62-64. doi:10.1136/jmg.31.1.62 [Abstract] [PDF] [Request Permissions]

Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?
G Wolff, E Zimmermann, B Zimmerhackl, C Harnasch, C Jung, and E Back
J Med Genet 1994; 31: 65-67. doi:10.1136/jmg.31.1.65 [Abstract] [PDF] [Request Permissions]

Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
J C Ramer, D B Vasily, and R L Ladda
J Med Genet 1994; 31: 68-71. doi:10.1136/jmg.31.1.68 [Abstract] [PDF] [Request Permissions]

De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.
F J Los, J O Van Hemel, H J Jacobs, S L Drop, and J J van Dongen
J Med Genet 1994; 31: 72-73. doi:10.1136/jmg.31.1.72 [Abstract] [PDF] [Request Permissions]

Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation.
B Blanco, F Loeza, and A Carnevale
J Med Genet 1994; 31: 74-75. doi:10.1136/jmg.31.1.74 [Abstract] [PDF] [Request Permissions]

Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.
M I Tejada, E Mornet, E Tizzano, M Molina, M Baiget, and A Boue
J Med Genet 1994; 31: 76-78. doi:10.1136/jmg.31.1.76 [Abstract] [PDF] [Request Permissions]

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.
E Tahvanainen, A H Beggs, and C Wallgren-Pettersson
J Med Genet 1994; 31: 79-80. doi:10.1136/jmg.31.1.79 [Abstract] [PDF] [Request Permissions]

Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients.
Y Wang, L L Yu, Q Sheng, C Meng, J Sun, and S S Chen
J Med Genet 1994; 31: 81-82. doi:10.1136/jmg.31.1.81 [Abstract] [PDF] [Request Permissions]

Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.
V Schuster, W Kress, and K Kruse
J Med Genet 1994; 31: 84. doi:10.1136/jmg.31.1.84 [PDF] [Request Permissions]

Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
M Desgeorges, M Laussel, B Rollin, J Demaille, and M Claustres
J Med Genet 1994; 31: 84-85. doi:10.1136/jmg.31.1.84-a [PDF] [Request Permissions]

Cutis laxa: a feature of Costello syndrome.
S J Davies and H E Hughes
J Med Genet 1994; 31: 85. doi:10.1136/jmg.31.1.85 [PDF] [Request Permissions]

Fibrodysplasia ossificans progressiva.
T E Herman
J Med Genet 1994; 31: 85. doi:10.1136/jmg.31.1.85-a [PDF] [Request Permissions]

Low segregation ratios in autosomal recessive disorders.
J C Oosterwijk
J Med Genet 1994; 31: 85-86. doi:10.1136/jmg.31.1.85-b [PDF] [Request Permissions]

Del(18p) syndrome with a single central maxillary incisor.
E Morales Peralta and A Lantigua
J Med Genet 1994; 31: 86. doi:10.1136/jmg.31.1.86 [PDF] [Request Permissions]

Prevention of Mediterranean anaemia in Latium, Italy, today.
I Bianco, B Graziani, M Lerone, D Ponzini, M C Aliquò, A Amato, E Foglietta, M P Cappabianca, E Greco, and P D Di Biagio
J Med Genet 1994; 31: 86. doi:10.1136/jmg.31.1.86-a [PDF] [Request Permissions]

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	Correction J Med Genet 1994; 31: 88. doi:10.1136/jmg.31.1.88 [PDF] [Request Permissions]

	Medical genetics: advances in brief W Reardon J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Diagnosis of human genetic disease using recombinant DNA. Fourth edition J C K Barber J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: The fish odour syndrome: biochemical, familial, and clinical aspects A M Norman J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Wolfram syndrome: a mitochondrial-mediated disorder? W Reardon J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome A Wilkie J Med Genet 1994; 31: 83. doi:10.1136/jmg.31.1.83-d [PDF] [Request Permissions]

	PCR Protocols—Current Methods and Applications Andrew J Walley J Med Genet 1994; 31: 87. doi:10.1136/jmg.31.1.87 [PDF] [Request Permissions]

	The Molecular and Genetic Basis of Neurological Disease John C Macmillan J Med Genet 1994; 31: 87. doi:10.1136/jmg.31.1.87-a [PDF] [Request Permissions]

	Mouse homologues of human hereditary disease. A G Searle, J H Edwards, and J G Hall J Med Genet 1994; 31: 1-19. doi:10.1136/jmg.31.1.1 [Abstract] [PDF] [Request Permissions]

	Sotos syndrome: a study of the diagnostic criteria and natural history. T R Cole and H E Hughes J Med Genet 1994; 31: 20-32. doi:10.1136/jmg.31.1.20 [Abstract] [PDF] [Request Permissions]

	French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion. C Lavedan, H Hofmann-Radvanyi, C Boileau, C Bonaïti-Pellié, D Savoy, P Shelbourne, C Duros, J P Rabes, I Dehaupas, and S Luce J Med Genet 1994; 31: 33-36. doi:10.1136/jmg.31.1.33 [Abstract] [PDF] [Request Permissions]

	Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. A Goldman, M Ramsay, and T Jenkins J Med Genet 1994; 31: 37-40. doi:10.1136/jmg.31.1.37 [Abstract] [PDF] [Request Permissions]

	Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. P M Matthews, J Hopkin, R M Brown, J B Stephenson, D Hilton-Jones, and G K Brown J Med Genet 1994; 31: 41-44. doi:10.1136/jmg.31.1.41 [Abstract] [PDF] [Request Permissions]

	Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. S Nørby, P Lestienne, I Nelson, I M Nielsen, H Schmalbruch, O Sjö, and M Warburg J Med Genet 1994; 31: 45-50. doi:10.1136/jmg.31.1.45 [Abstract] [PDF] [Request Permissions]

	Ascertainment and severity of Marfan syndrome in a Scottish population. J R Gray, A B Bridges, M J Faed, T Pringle, P Baines, J Dean, and M Boxer J Med Genet 1994; 31: 51-54. doi:10.1136/jmg.31.1.51 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis. S V Hodgson, D T Bishop, and B Jay J Med Genet 1994; 31: 55-58. doi:10.1136/jmg.31.1.55 [Abstract] [PDF] [Request Permissions]

	The spectrum of beta thalassaemia mutations in the UAE national population. R Quaife, L al-Gazali, S Abbes, P Fitzgerald, A Fitches, D Valler, and J M Old J Med Genet 1994; 31: 59-61. doi:10.1136/jmg.31.1.59 [Abstract] [PDF] [Request Permissions]

	Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. S P Horslen, O W Quarrell, and M S Tanner J Med Genet 1994; 31: 62-64. doi:10.1136/jmg.31.1.62 [Abstract] [PDF] [Request Permissions]

	Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome? G Wolff, E Zimmermann, B Zimmerhackl, C Harnasch, C Jung, and E Back J Med Genet 1994; 31: 65-67. doi:10.1136/jmg.31.1.65 [Abstract] [PDF] [Request Permissions]

	Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. J C Ramer, D B Vasily, and R L Ladda J Med Genet 1994; 31: 68-71. doi:10.1136/jmg.31.1.68 [Abstract] [PDF] [Request Permissions]

	De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data. F J Los, J O Van Hemel, H J Jacobs, S L Drop, and J J van Dongen J Med Genet 1994; 31: 72-73. doi:10.1136/jmg.31.1.72 [Abstract] [PDF] [Request Permissions]

	Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation. B Blanco, F Loeza, and A Carnevale J Med Genet 1994; 31: 74-75. doi:10.1136/jmg.31.1.74 [Abstract] [PDF] [Request Permissions]

	Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome. M I Tejada, E Mornet, E Tizzano, M Molina, M Baiget, and A Boue J Med Genet 1994; 31: 76-78. doi:10.1136/jmg.31.1.76 [Abstract] [PDF] [Request Permissions]

	Exclusion of two candidate loci for autosomal recessive nemaline myopathy. E Tahvanainen, A H Beggs, and C Wallgren-Pettersson J Med Genet 1994; 31: 79-80. doi:10.1136/jmg.31.1.79 [Abstract] [PDF] [Request Permissions]

	Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients. Y Wang, L L Yu, Q Sheng, C Meng, J Sun, and S S Chen J Med Genet 1994; 31: 81-82. doi:10.1136/jmg.31.1.81 [Abstract] [PDF] [Request Permissions]

	Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting. V Schuster, W Kress, and K Kruse J Med Genet 1994; 31: 84. doi:10.1136/jmg.31.1.84 [PDF] [Request Permissions]

	Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X. M Desgeorges, M Laussel, B Rollin, J Demaille, and M Claustres J Med Genet 1994; 31: 84-85. doi:10.1136/jmg.31.1.84-a [PDF] [Request Permissions]

	Cutis laxa: a feature of Costello syndrome. S J Davies and H E Hughes J Med Genet 1994; 31: 85. doi:10.1136/jmg.31.1.85 [PDF] [Request Permissions]

	Fibrodysplasia ossificans progressiva. T E Herman J Med Genet 1994; 31: 85. doi:10.1136/jmg.31.1.85-a [PDF] [Request Permissions]

	Low segregation ratios in autosomal recessive disorders. J C Oosterwijk J Med Genet 1994; 31: 85-86. doi:10.1136/jmg.31.1.85-b [PDF] [Request Permissions]

	Del(18p) syndrome with a single central maxillary incisor. E Morales Peralta and A Lantigua J Med Genet 1994; 31: 86. doi:10.1136/jmg.31.1.86 [PDF] [Request Permissions]

	Prevention of Mediterranean anaemia in Latium, Italy, today. I Bianco, B Graziani, M Lerone, D Ponzini, M C Aliquò, A Amato, E Foglietta, M P Cappabianca, E Greco, and P D Di Biagio J Med Genet 1994; 31: 86. doi:10.1136/jmg.31.1.86-a [PDF] [Request Permissions]