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April 1991 (Volume 28, Number 4). [Index by author]

		Book Reviews Conference Report Research Article

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Book Reviews

Mendelian Inheritance in Man
Peter S Harper
J Med Genet 1991; 28: 287. doi:10.1136/jmg.28.4.287 [PDF] [Request Permissions]

The Genetics of Mood Disorders
M J Owen
J Med Genet 1991; 28: 287-288. doi:10.1136/jmg.28.4.287-a [PDF] [Request Permissions]

Molecular Aspects of Development and Aging of the Nervous System
John Hardy
J Med Genet 1991; 28: 288. doi:10.1136/jmg.28.4.288 [PDF] [Request Permissions]

Conference Report

Third International Symposium on the Neuronal Ceroid-Lipofuscinoses (Batten's Disease), Indianapolis, Indiana, USA
Aristotle Siakotos, Jonathan Haines, and Glyn Dawson
J Med Genet 1991; 28: 284-285. doi:10.1136/jmg.28.4.284 [PDF] [Request Permissions]

Research Article

On the parental origin of de novo mutation in man.
A C Chandley
J Med Genet 1991; 28: 217-223. doi:10.1136/jmg.28.4.217 [Abstract] [PDF] [Request Permissions]

Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting.
R M Ridley, C D Frith, L A Farrer, and P M Conneally
J Med Genet 1991; 28: 224-231. doi:10.1136/jmg.28.4.224 [Abstract] [PDF] [Request Permissions]

Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.
A J Kirkilionis, D C Riddell, M W Spence, and R G Fenwick
J Med Genet 1991; 28: 232-240. doi:10.1136/jmg.28.4.232 [Abstract] [PDF] [Request Permissions]

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
G Sebastio, R de Franchis, P Strisciuglio, G Andria, C Dionisi Vici, G Sabetta, R Gatti, N C Cross, and T M Cox
J Med Genet 1991; 28: 241-243. doi:10.1136/jmg.28.4.241 [Abstract] [PDF] [Request Permissions]

Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.
L A Tyfield, M J Osborn, and J B Holton
J Med Genet 1991; 28: 244-247. doi:10.1136/jmg.28.4.244 [Abstract] [PDF] [Request Permissions]

Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): the J3.11 MspI polymorphism.
C R Newton, C Summers, L E Heptinstall, J R Lynch, R S Finniear, D Ogilvie, J C Smith, and A F Markham
J Med Genet 1991; 28: 248-251. doi:10.1136/jmg.28.4.248 [Abstract] [PDF] [Request Permissions]

Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.
M Losekoot, R Fodde, C L Harteveld, H van Heeren, P C Giordano, L N Went, and L F Bernini
J Med Genet 1991; 28: 252-255. doi:10.1136/jmg.28.4.252 [Abstract] [PDF] [Request Permissions]

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.
O W Quarrell, R G Snell, M A Curtis, S H Roberts, P S Harper, and D J Shaw
J Med Genet 1991; 28: 256-259. doi:10.1136/jmg.28.4.256 [Abstract] [PDF] [Request Permissions]

PCR amplification of genomic DNA from a 24 year old lysate derived from washed human erythrocytes.
W R Chegwidden, P J Venta, and R E Tashian
J Med Genet 1991; 28: 260-261. doi:10.1136/jmg.28.4.260 [PDF] [Request Permissions]

Hereditary multiple exostoses.
R C Hennekam
J Med Genet 1991; 28: 262-266. doi:10.1136/jmg.28.4.262 [PDF] [Request Permissions]

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.
I M Buntinx, P J Willems, S E Spitaels, P J Van Reempst, A M De Paepe, and J E Dumon
J Med Genet 1991; 28: 267-273. doi:10.1136/jmg.28.4.267 [Abstract] [PDF] [Request Permissions]

Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome.
R T Couper, R W Byard, E Cutz, D A Stringer, and P R Durie
J Med Genet 1991; 28: 274-276. doi:10.1136/jmg.28.4.274 [Abstract] [PDF] [Request Permissions]

Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
J C de Almeida, D F Reis, J Llerena Júnior, J Barbosa Neto, R L Pontes, S Middleton, and L F Telles
J Med Genet 1991; 28: 277-279. doi:10.1136/jmg.28.4.277 [Abstract] [PDF] [Request Permissions]

Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.
C P Bennett, D R Betts, and M J Seller
J Med Genet 1991; 28: 280-281. doi:10.1136/jmg.28.4.280 [Abstract] [PDF] [Request Permissions]

Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).
J P Park, J B Moeschler, S Z Berg, and D H Wurster-Hill
J Med Genet 1991; 28: 282-283. doi:10.1136/jmg.28.4.282 [Abstract] [PDF] [Request Permissions]

Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates.
M R Passos-Bueno and M Zatz
J Med Genet 1991; 28: 286-287. doi:10.1136/jmg.28.4.286 [PDF] [Request Permissions]

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	Mendelian Inheritance in Man Peter S Harper J Med Genet 1991; 28: 287. doi:10.1136/jmg.28.4.287 [PDF] [Request Permissions]

	The Genetics of Mood Disorders M J Owen J Med Genet 1991; 28: 287-288. doi:10.1136/jmg.28.4.287-a [PDF] [Request Permissions]

	Molecular Aspects of Development and Aging of the Nervous System John Hardy J Med Genet 1991; 28: 288. doi:10.1136/jmg.28.4.288 [PDF] [Request Permissions]

	Third International Symposium on the Neuronal Ceroid-Lipofuscinoses (Batten's Disease), Indianapolis, Indiana, USA Aristotle Siakotos, Jonathan Haines, and Glyn Dawson J Med Genet 1991; 28: 284-285. doi:10.1136/jmg.28.4.284 [PDF] [Request Permissions]

	On the parental origin of de novo mutation in man. A C Chandley J Med Genet 1991; 28: 217-223. doi:10.1136/jmg.28.4.217 [Abstract] [PDF] [Request Permissions]

	Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting. R M Ridley, C D Frith, L A Farrer, and P M Conneally J Med Genet 1991; 28: 224-231. doi:10.1136/jmg.28.4.224 [Abstract] [PDF] [Request Permissions]

	Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone. A J Kirkilionis, D C Riddell, M W Spence, and R G Fenwick J Med Genet 1991; 28: 232-240. doi:10.1136/jmg.28.4.232 [Abstract] [PDF] [Request Permissions]

	Aldolase B mutations in Italian families affected by hereditary fructose intolerance. G Sebastio, R de Franchis, P Strisciuglio, G Andria, C Dionisi Vici, G Sabetta, R Gatti, N C Cross, and T M Cox J Med Genet 1991; 28: 241-243. doi:10.1136/jmg.28.4.241 [Abstract] [PDF] [Request Permissions]

	Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England. L A Tyfield, M J Osborn, and J B Holton J Med Genet 1991; 28: 244-247. doi:10.1136/jmg.28.4.244 [Abstract] [PDF] [Request Permissions]

	Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): the J3.11 MspI polymorphism. C R Newton, C Summers, L E Heptinstall, J R Lynch, R S Finniear, D Ogilvie, J C Smith, and A F Markham J Med Genet 1991; 28: 248-251. doi:10.1136/jmg.28.4.248 [Abstract] [PDF] [Request Permissions]

	Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene. M Losekoot, R Fodde, C L Harteveld, H van Heeren, P C Giordano, L N Went, and L F Bernini J Med Genet 1991; 28: 252-255. doi:10.1136/jmg.28.4.252 [Abstract] [PDF] [Request Permissions]

	Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. O W Quarrell, R G Snell, M A Curtis, S H Roberts, P S Harper, and D J Shaw J Med Genet 1991; 28: 256-259. doi:10.1136/jmg.28.4.256 [Abstract] [PDF] [Request Permissions]

	PCR amplification of genomic DNA from a 24 year old lysate derived from washed human erythrocytes. W R Chegwidden, P J Venta, and R E Tashian J Med Genet 1991; 28: 260-261. doi:10.1136/jmg.28.4.260 [PDF] [Request Permissions]

	Hereditary multiple exostoses. R C Hennekam J Med Genet 1991; 28: 262-266. doi:10.1136/jmg.28.4.262 [PDF] [Request Permissions]

	Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. I M Buntinx, P J Willems, S E Spitaels, P J Van Reempst, A M De Paepe, and J E Dumon J Med Genet 1991; 28: 267-273. doi:10.1136/jmg.28.4.267 [Abstract] [PDF] [Request Permissions]

	Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome. R T Couper, R W Byard, E Cutz, D A Stringer, and P R Durie J Med Genet 1991; 28: 274-276. doi:10.1136/jmg.28.4.274 [Abstract] [PDF] [Request Permissions]

	Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance. J C de Almeida, D F Reis, J Llerena Júnior, J Barbosa Neto, R L Pontes, S Middleton, and L F Telles J Med Genet 1991; 28: 277-279. doi:10.1136/jmg.28.4.277 [Abstract] [PDF] [Request Permissions]

	Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. C P Bennett, D R Betts, and M J Seller J Med Genet 1991; 28: 280-281. doi:10.1136/jmg.28.4.280 [Abstract] [PDF] [Request Permissions]

	Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1). J P Park, J B Moeschler, S Z Berg, and D H Wurster-Hill J Med Genet 1991; 28: 282-283. doi:10.1136/jmg.28.4.282 [Abstract] [PDF] [Request Permissions]

	Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates. M R Passos-Bueno and M Zatz J Med Genet 1991; 28: 286-287. doi:10.1136/jmg.28.4.286 [PDF] [Request Permissions]