Hereditary motor and sensory neuropathies.
J M Vance
J Med Genet 1991; 28: 1-5. doi:10.1136/jmg.28.1.1
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An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.
C Cooper, J A Crolla, C Laister, D I Johnston, and P Cooke
J Med Genet 1991; 28: 6-9. doi:10.1136/jmg.28.1.6
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Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.
K D MacDermot, R M Winter, J S Wigglesworth, and S Strobel
J Med Genet 1991; 28: 10-17. doi:10.1136/jmg.28.1.10
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Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.
K D MacDermot, R M Winter, D Taylor, and M Baraitser
J Med Genet 1991; 28: 18-26. doi:10.1136/jmg.28.1.18
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Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.
P D Turnpenny, R J Thwaites, and F N Boulos
J Med Genet 1991; 28: 27-33. doi:10.1136/jmg.28.1.27
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Association of less common cystic fibrosis mutations with a mild phenotype.
A Curtis, R Nelson, M Porteous, J Burn, and S S Bhattacharya
J Med Genet 1991; 28: 34-37. doi:10.1136/jmg.28.1.34
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Two distinct mutations at a single BamHI site in phenylketonuria.
D Melle, P Verelst, F Rey, M Berthelon, B François, A Munnich, and S Lyonnet
J Med Genet 1991; 28: 38-40. doi:10.1136/jmg.28.1.38
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The sex ratios of probands and of secondary cases in conditions of multifactorial inheritance where liability varies with sex.
W H James
J Med Genet 1991; 28: 41-43. doi:10.1136/jmg.28.1.41
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Aarskog syndrome.
M E Porteous and D R Goudie
J Med Genet 1991; 28: 44-47. doi:10.1136/jmg.28.1.44
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Growth hormone deficiency in a girl with the Cohen syndrome.
G Massa, L Dooms, and M Vanderschueren-Lodeweyckx
J Med Genet 1991; 28: 48-50. doi:10.1136/jmg.28.1.48
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Spondylocostal dysplasia and neural tube defects.
G P Giacoia and B Say
J Med Genet 1991; 28: 51-53. doi:10.1136/jmg.28.1.51
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Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
J A Hurst, P Meinecke, and M Baraitser
J Med Genet 1991; 28: 54-55. doi:10.1136/jmg.28.1.54
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Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.
C Braegger, A Bottani, F Hallé, A Giedion, E Leumann, R Seger, U Willi, and A Schinzel
J Med Genet 1991; 28: 56-59. doi:10.1136/jmg.28.1.56
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A familial case of chromosome 16p variant.
G Croci, L Camurri, and F Franchi
J Med Genet 1991; 28: 60. doi:10.1136/jmg.28.1.60
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A familial X;autosome translocation associated with Becker type muscular dystrophy?
N Tommerup
J Med Genet 1991; 28: 65. doi:10.1136/jmg.28.1.65
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Facial measurements in the newborn.
K Méhes
J Med Genet 1991; 28: 65. doi:10.1136/jmg.28.1.65-a
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