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December 1994 (Volume 31, Number 12). [Index by author]

		Book Reviews Research Article

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Book Reviews

Genetics and Alcoholism
D F Roberts
J Med Genet 1994; 31: 981. doi:10.1136/jmg.31.12.981 [PDF] [Request Permissions]

Diagnostic Criteria for Neuromuscular Disorders
J C Macmillan
J Med Genet 1994; 31: 981-982. doi:10.1136/jmg.31.12.981-a [PDF] [Request Permissions]

Research Article

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.
P J Rosenfeld, V A McKusick, J S Amberger, and T P Dryja
J Med Genet 1994; 31: 903-915. doi:10.1136/jmg.31.12.903 [PDF] [Request Permissions]

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
M Bitner-Glindzicz, Y de Kok, D Summers, I Huber, F P Cremers, H H Ropers, W Reardon, M E Pembrey, and S Malcolm
J Med Genet 1994; 31: 916-921. doi:10.1136/jmg.31.12.916 [Abstract] [PDF] [Request Permissions]

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
N Dahl, F Samson, N S Thomas, L J Hu, W Gong, G Herman, J Laporte, P Kioschis, A Poustka, and J L Mandel
J Med Genet 1994; 31: 922-924. doi:10.1136/jmg.31.12.922 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
M E Porteous, A Curtis, O Williams, D Marchuk, S S Bhattacharya, and J Burn
J Med Genet 1994; 31: 925-926. doi:10.1136/jmg.31.12.925 [Abstract] [PDF] [Request Permissions]

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
K A McAllister, F Lennon, B Bowles-Biesecker, W C McKinnon, E A Helmbold, D S Markel, C E Jackson, A E Guttmacher, M A Pericak-Vance, and D A Marchuk
J Med Genet 1994; 31: 927-932. doi:10.1136/jmg.31.12.927 [Abstract] [PDF] [Request Permissions]

Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
P Heutink, T Haitjema, G J Breedveld, B Janssen, L A Sandkuijl, C J Bontekoe, C J Westerman, and B A Oostra
J Med Genet 1994; 31: 933-936. doi:10.1136/jmg.31.12.933 [Abstract] [PDF] [Request Permissions]

Automated analysis of multiplex microsatellites.
G R Taylor, J S Noble, and R F Mueller
J Med Genet 1994; 31: 937-943. doi:10.1136/jmg.31.12.937 [Abstract] [PDF] [Request Permissions]

Genetic epidemiology of early onset breast cancer.
D Eccles, A Marlow, G Royle, A Collins, and N E Morton
J Med Genet 1994; 31: 944-949. doi:10.1136/jmg.31.12.944 [Abstract] [PDF] [Request Permissions]

The impact of genetic counselling on females in fragile X families.
G Curtis, N Dennis, and J MacPherson
J Med Genet 1994; 31: 950-952. doi:10.1136/jmg.31.12.950 [Abstract] [PDF] [Request Permissions]

Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.
M A Hannan, D Sigut, M Waghray, and G G Gascon
J Med Genet 1994; 31: 953-956. doi:10.1136/jmg.31.12.953 [Abstract] [PDF] [Request Permissions]

Syndactyly, ectodermal dysplasia, and cleft lip/palate.
J Zlotogora
J Med Genet 1994; 31: 957-959. doi:10.1136/jmg.31.12.957 [PDF] [Request Permissions]

Anophthalmia with cleft palate and micrognathia: a new syndrome?
S R Phadke, A K Sharma, and S S Agarwal
J Med Genet 1994; 31: 960-961. doi:10.1136/jmg.31.12.960 [Abstract] [PDF] [Request Permissions]

Two fetuses with Fryns syndrome without diaphragmatic defects.
K K Wilgenbus, R Engers, G Crombach, and F Majewski
J Med Genet 1994; 31: 962-964. doi:10.1136/jmg.31.12.962 [Abstract] [PDF] [Request Permissions]

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.
M Gomez-Lira, A Sangalli, P F Pignatti, M C Digilio, A Giannotti, E Carnevale, and M Mottes
J Med Genet 1994; 31: 965-968. doi:10.1136/jmg.31.12.965 [Abstract] [PDF] [Request Permissions]

Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus.
M Leäo and M L da Silva
J Med Genet 1994; 31: 969-971. doi:10.1136/jmg.31.12.969 [Abstract] [PDF] [Request Permissions]

Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.
A A Bergen, J B ten Brink, L M Bleeker-Wagemakers, and M J van Schooneveld
J Med Genet 1994; 31: 972-975. doi:10.1136/jmg.31.12.972 [Abstract] [PDF] [Request Permissions]

Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin.
M Bueno, G Oliván, A Jiménez, J M Garagorri, A Sarría, A L Bueno, M Bueno, Jr, and F J Ramos
J Med Genet 1994; 31: 976-977. doi:10.1136/jmg.31.12.976 [Abstract] [PDF] [Request Permissions]

Assessment of Yqh translocations.
J L Fernández, S Pereira, A Campos, and V Goyanes
J Med Genet 1994; 31: 978-979. doi:10.1136/jmg.31.12.978 [Abstract] [PDF] [Request Permissions]

Meiotic drive at the myotonic dystrophy locus.
M Gennarelli, B Dallapiccola, M Baiget, L Martorell, and G Novelli
J Med Genet 1994; 31: 980. doi:10.1136/jmg.31.12.980 [PDF] [Request Permissions]

Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390)
S Ohdo, T Sonoda, and K Ohba
J Med Genet 1994; 31: 980-981. doi:10.1136/jmg.31.12.980-a [PDF] [Request Permissions]

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	Genetics and Alcoholism D F Roberts J Med Genet 1994; 31: 981. doi:10.1136/jmg.31.12.981 [PDF] [Request Permissions]

	Diagnostic Criteria for Neuromuscular Disorders J C Macmillan J Med Genet 1994; 31: 981-982. doi:10.1136/jmg.31.12.981-a [PDF] [Request Permissions]

	Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. P J Rosenfeld, V A McKusick, J S Amberger, and T P Dryja J Med Genet 1994; 31: 903-915. doi:10.1136/jmg.31.12.903 [PDF] [Request Permissions]

	Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. M Bitner-Glindzicz, Y de Kok, D Summers, I Huber, F P Cremers, H H Ropers, W Reardon, M E Pembrey, and S Malcolm J Med Genet 1994; 31: 916-921. doi:10.1136/jmg.31.12.916 [Abstract] [PDF] [Request Permissions]

	X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). N Dahl, F Samson, N S Thomas, L J Hu, W Gong, G Herman, J Laporte, P Kioschis, A Poustka, and J L Mandel J Med Genet 1994; 31: 922-924. doi:10.1136/jmg.31.12.922 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity in hereditary haemorrhagic telangiectasia. M E Porteous, A Curtis, O Williams, D Marchuk, S S Bhattacharya, and J Burn J Med Genet 1994; 31: 925-926. doi:10.1136/jmg.31.12.925 [Abstract] [PDF] [Request Permissions]

	Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. K A McAllister, F Lennon, B Bowles-Biesecker, W C McKinnon, E A Helmbold, D S Markel, C E Jackson, A E Guttmacher, M A Pericak-Vance, and D A Marchuk J Med Genet 1994; 31: 927-932. doi:10.1136/jmg.31.12.927 [Abstract] [PDF] [Request Permissions]

	Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. P Heutink, T Haitjema, G J Breedveld, B Janssen, L A Sandkuijl, C J Bontekoe, C J Westerman, and B A Oostra J Med Genet 1994; 31: 933-936. doi:10.1136/jmg.31.12.933 [Abstract] [PDF] [Request Permissions]

	Automated analysis of multiplex microsatellites. G R Taylor, J S Noble, and R F Mueller J Med Genet 1994; 31: 937-943. doi:10.1136/jmg.31.12.937 [Abstract] [PDF] [Request Permissions]

	Genetic epidemiology of early onset breast cancer. D Eccles, A Marlow, G Royle, A Collins, and N E Morton J Med Genet 1994; 31: 944-949. doi:10.1136/jmg.31.12.944 [Abstract] [PDF] [Request Permissions]

	The impact of genetic counselling on females in fragile X families. G Curtis, N Dennis, and J MacPherson J Med Genet 1994; 31: 950-952. doi:10.1136/jmg.31.12.950 [Abstract] [PDF] [Request Permissions]

	Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. M A Hannan, D Sigut, M Waghray, and G G Gascon J Med Genet 1994; 31: 953-956. doi:10.1136/jmg.31.12.953 [Abstract] [PDF] [Request Permissions]

	Syndactyly, ectodermal dysplasia, and cleft lip/palate. J Zlotogora J Med Genet 1994; 31: 957-959. doi:10.1136/jmg.31.12.957 [PDF] [Request Permissions]

	Anophthalmia with cleft palate and micrognathia: a new syndrome? S R Phadke, A K Sharma, and S S Agarwal J Med Genet 1994; 31: 960-961. doi:10.1136/jmg.31.12.960 [Abstract] [PDF] [Request Permissions]

	Two fetuses with Fryns syndrome without diaphragmatic defects. K K Wilgenbus, R Engers, G Crombach, and F Majewski J Med Genet 1994; 31: 962-964. doi:10.1136/jmg.31.12.962 [Abstract] [PDF] [Request Permissions]

	Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. M Gomez-Lira, A Sangalli, P F Pignatti, M C Digilio, A Giannotti, E Carnevale, and M Mottes J Med Genet 1994; 31: 965-968. doi:10.1136/jmg.31.12.965 [Abstract] [PDF] [Request Permissions]

	Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus. M Leäo and M L da Silva J Med Genet 1994; 31: 969-971. doi:10.1136/jmg.31.12.969 [Abstract] [PDF] [Request Permissions]

	Refinement of the chromosomal position of the X linked juvenile retinoschisis gene. A A Bergen, J B ten Brink, L M Bleeker-Wagemakers, and M J van Schooneveld J Med Genet 1994; 31: 972-975. doi:10.1136/jmg.31.12.972 [Abstract] [PDF] [Request Permissions]

	Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin. M Bueno, G Oliván, A Jiménez, J M Garagorri, A Sarría, A L Bueno, M Bueno, Jr, and F J Ramos J Med Genet 1994; 31: 976-977. doi:10.1136/jmg.31.12.976 [Abstract] [PDF] [Request Permissions]

	Assessment of Yqh translocations. J L Fernández, S Pereira, A Campos, and V Goyanes J Med Genet 1994; 31: 978-979. doi:10.1136/jmg.31.12.978 [Abstract] [PDF] [Request Permissions]

	Meiotic drive at the myotonic dystrophy locus. M Gennarelli, B Dallapiccola, M Baiget, L Martorell, and G Novelli J Med Genet 1994; 31: 980. doi:10.1136/jmg.31.12.980 [PDF] [Request Permissions]

	Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390) S Ohdo, T Sonoda, and K Ohba J Med Genet 1994; 31: 980-981. doi:10.1136/jmg.31.12.980-a [PDF] [Request Permissions]