J Med Genet -- Table of Contents (28 [8])

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August 1991 (Volume 28, Number 8). [Index by author]

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Abstracts

Abstracts of the Meeting of the Clinical Genetics Society Held on 28 November 1990 at the Institute of Education, London
J Med Genet 1991; 28: 550-561. doi:10.1136/jmg.28.8.550 [PDF] [Request Permissions]

Abstracts of the Meeting of the Clinical Genetics Society Held on 20 to 22 March 1991 at Belfast City Hospital
J Med Genet 1991; 28: 562-574. doi:10.1136/jmg.28.8.562 [PDF] [Request Permissions]

Research Article

Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.
I B Ginjaar, E Bakker, M M van Paassen, J T den Dunnen, A Wessels, E E Zubrzycka-Gaarn, A F Moorman, and G J van Ommen
J Med Genet 1991; 28: 505-510. doi:10.1136/jmg.28.8.505 [Abstract] [PDF] [Request Permissions]

Maternal uniparental disomy for chromosome 14.
I K Temple, A Cockwell, T Hassold, D Pettay, and P Jacobs
J Med Genet 1991; 28: 511-514. doi:10.1136/jmg.28.8.511 [Abstract] [PDF] [Request Permissions]

Age at onset in Huntington's disease: effect of line of inheritance and patient's sex.
R A Roos, M Vegter-van der Vlis, J Hermans, H M Elshove, A C Moll, J J van de Kamp, and G W Bruyn
J Med Genet 1991; 28: 515-519. doi:10.1136/jmg.28.8.515 [Abstract] [PDF] [Request Permissions]

Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.
L Barron, A Curtis, A E Shrimpton, S Holloway, H May, R G Snell, and D J Brock
J Med Genet 1991; 28: 520-522. doi:10.1136/jmg.28.8.520 [Abstract] [PDF] [Request Permissions]

Reproductive behaviour of families segregating for Cooley's anaemia before and after the availability of prenatal diagnosis.
M R Gamberini, M Lucci, C Vullo, B Anderson, R Canella, and I Barrai
J Med Genet 1991; 28: 523-529. doi:10.1136/jmg.28.8.523 [Abstract] [PDF] [Request Permissions]

Single maxillary central incisor in a girl with del(18p) syndrome.
D J Aughton, A A AlSaadi, and D J Transue
J Med Genet 1991; 28: 530-532. doi:10.1136/jmg.28.8.530 [Abstract] [PDF] [Request Permissions]

Interstitial deletion of chromosome 13: prognosis and adult phenotype.
J C Dean, S Simpson, D A Couzin, and G S Stephen
J Med Genet 1991; 28: 533-535. doi:10.1136/jmg.28.8.533 [Abstract] [PDF] [Request Permissions]

De novo ring chromosome 3: a new case with a mild phenotype.
M McKinley, A Colley, P Sinclair, D Donnai, and T Andrews
J Med Genet 1991; 28: 536-538. doi:10.1136/jmg.28.8.536 [Abstract] [PDF] [Request Permissions]

De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).
M Yoshino, Y Watanabe, N Harada, and K Abe
J Med Genet 1991; 28: 539-540. doi:10.1136/jmg.28.8.539 [Abstract] [PDF] [Request Permissions]

Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.
D R McLeod, L R Wesselman, and D I Hoar
J Med Genet 1991; 28: 541-543. doi:10.1136/jmg.28.8.541 [Abstract] [PDF] [Request Permissions]

Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.
R B Laing, J C Dean, D W Pearson, and A W Johnston
J Med Genet 1991; 28: 544-546. doi:10.1136/jmg.28.8.544 [Abstract] [PDF] [Request Permissions]

Neurosonography and pathology in the Schinzel-Giedion syndrome.
A C Maclennan, D Doyle, and R M Simpson
J Med Genet 1991; 28: 547-549. doi:10.1136/jmg.28.8.547 [Abstract] [PDF] [Request Permissions]

Cystic fibrosis screening and community genetics.
G Turner, B Wilcken, and H Griffiths
J Med Genet 1991; 28: 575. doi:10.1136/jmg.28.8.575 [PDF] [Request Permissions]

False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13.
F J Priest and N C Nevin
J Med Genet 1991; 28: 575-576. doi:10.1136/jmg.28.8.575-a [PDF] [Request Permissions]

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	Abstracts of the Meeting of the Clinical Genetics Society Held on 28 November 1990 at the Institute of Education, London J Med Genet 1991; 28: 550-561. doi:10.1136/jmg.28.8.550 [PDF] [Request Permissions]

	Abstracts of the Meeting of the Clinical Genetics Society Held on 20 to 22 March 1991 at Belfast City Hospital J Med Genet 1991; 28: 562-574. doi:10.1136/jmg.28.8.562 [PDF] [Request Permissions]

	Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy. I B Ginjaar, E Bakker, M M van Paassen, J T den Dunnen, A Wessels, E E Zubrzycka-Gaarn, A F Moorman, and G J van Ommen J Med Genet 1991; 28: 505-510. doi:10.1136/jmg.28.8.505 [Abstract] [PDF] [Request Permissions]

	Maternal uniparental disomy for chromosome 14. I K Temple, A Cockwell, T Hassold, D Pettay, and P Jacobs J Med Genet 1991; 28: 511-514. doi:10.1136/jmg.28.8.511 [Abstract] [PDF] [Request Permissions]

	Age at onset in Huntington's disease: effect of line of inheritance and patient's sex. R A Roos, M Vegter-van der Vlis, J Hermans, H M Elshove, A C Moll, J J van de Kamp, and G W Bruyn J Med Genet 1991; 28: 515-519. doi:10.1136/jmg.28.8.515 [Abstract] [PDF] [Request Permissions]

	Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely. L Barron, A Curtis, A E Shrimpton, S Holloway, H May, R G Snell, and D J Brock J Med Genet 1991; 28: 520-522. doi:10.1136/jmg.28.8.520 [Abstract] [PDF] [Request Permissions]

	Reproductive behaviour of families segregating for Cooley's anaemia before and after the availability of prenatal diagnosis. M R Gamberini, M Lucci, C Vullo, B Anderson, R Canella, and I Barrai J Med Genet 1991; 28: 523-529. doi:10.1136/jmg.28.8.523 [Abstract] [PDF] [Request Permissions]

	Single maxillary central incisor in a girl with del(18p) syndrome. D J Aughton, A A AlSaadi, and D J Transue J Med Genet 1991; 28: 530-532. doi:10.1136/jmg.28.8.530 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion of chromosome 13: prognosis and adult phenotype. J C Dean, S Simpson, D A Couzin, and G S Stephen J Med Genet 1991; 28: 533-535. doi:10.1136/jmg.28.8.533 [Abstract] [PDF] [Request Permissions]

	De novo ring chromosome 3: a new case with a mild phenotype. M McKinley, A Colley, P Sinclair, D Donnai, and T Andrews J Med Genet 1991; 28: 536-538. doi:10.1136/jmg.28.8.536 [Abstract] [PDF] [Request Permissions]

	De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter). M Yoshino, Y Watanabe, N Harada, and K Abe J Med Genet 1991; 28: 539-540. doi:10.1136/jmg.28.8.539 [Abstract] [PDF] [Request Permissions]

	Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage. D R McLeod, L R Wesselman, and D I Hoar J Med Genet 1991; 28: 541-543. doi:10.1136/jmg.28.8.541 [Abstract] [PDF] [Request Permissions]

	Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus. R B Laing, J C Dean, D W Pearson, and A W Johnston J Med Genet 1991; 28: 544-546. doi:10.1136/jmg.28.8.544 [Abstract] [PDF] [Request Permissions]

	Neurosonography and pathology in the Schinzel-Giedion syndrome. A C Maclennan, D Doyle, and R M Simpson J Med Genet 1991; 28: 547-549. doi:10.1136/jmg.28.8.547 [Abstract] [PDF] [Request Permissions]

	Cystic fibrosis screening and community genetics. G Turner, B Wilcken, and H Griffiths J Med Genet 1991; 28: 575. doi:10.1136/jmg.28.8.575 [PDF] [Request Permissions]

	False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13. F J Priest and N C Nevin J Med Genet 1991; 28: 575-576. doi:10.1136/jmg.28.8.575-a [PDF] [Request Permissions]