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March 1995 (Volume 32, Number 3). [Index by author]

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Book Reviews

Genetic Factors in Drug Therapy: Clinical and Molecular Pharmacogenetics
Martin Lennard
J Med Genet 1995; 32: 246-247. doi:10.1136/jmg.32.3.246 [PDF] [Request Permissions]

ABC of Clinical Genetics
D De Silva
J Med Genet 1995; 32: 247. doi:10.1136/jmg.32.3.247 [PDF] [Request Permissions]

Genetics and Medicine in the United States 1800 to 1922
Alan E H Emery
J Med Genet 1995; 32: 247. doi:10.1136/jmg.32.3.247-a [PDF] [Request Permissions]

From Genetics to Gene Therapy
David Rubinsztein
J Med Genet 1995; 32: 247. doi:10.1136/jmg.32.3.247-b [PDF] [Request Permissions]

Clinical Genetics Handbook
S J Davies
J Med Genet 1995; 32: 247-248. doi:10.1136/jmg.32.3.247-c [PDF] [Request Permissions]

Guide to Techniques in Mouse Development
Peter H Glenister
J Med Genet 1995; 32: 248. doi:10.1136/jmg.32.3.248 [PDF] [Request Permissions]

The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions
S Antonarakis
J Med Genet 1995; 32: 248. doi:10.1136/jmg.32.3.248-a [PDF] [Request Permissions]

Research Article

Genetic testing for cancer predisposition: need and demand.
D G Evans
J Med Genet 1995; 32: 161. doi:10.1136/jmg.32.3.161 [PDF] [Request Permissions]

FRAXE and mental retardation.
J C Mulley, S Yu, D Z Loesch, D A Hay, A Donnelly, A K Gedeon, P Carbonell, I López, G Glover, and I Gabarrón
J Med Genet 1995; 32: 162-169. doi:10.1136/jmg.32.3.162 [Abstract] [PDF] [Request Permissions]

A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.
Q Wang, E Green, M Bobrow, and C G Mathew
J Med Genet 1995; 32: 170-173. doi:10.1136/jmg.32.3.170 [Abstract] [PDF] [Request Permissions]

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.
A O Wilkie, S P Yang, D Summers, M D Poole, W Reardon, and R M Winter
J Med Genet 1995; 32: 174-180. doi:10.1136/jmg.32.3.174 [Abstract] [PDF] [Request Permissions]

A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.
T Webb, D Clarke, C A Hardy, M W Kilpatrick, J Corbett, and M Dahlitz
J Med Genet 1995; 32: 181-185. doi:10.1136/jmg.32.3.181 [Abstract] [PDF] [Request Permissions]

Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
C MacGeoch, G Turner, L G Bobrow, D M Barnes, D T Bishop, and N K Spurr
J Med Genet 1995; 32: 186-190. doi:10.1136/jmg.32.3.186 [Abstract] [PDF] [Request Permissions]

Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition.
G Woods, G Black, and G Norbury
J Med Genet 1995; 32: 191-196. doi:10.1136/jmg.32.3.191 [Abstract] [PDF] [Request Permissions]

A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
C J Gallione, K A Pasyk, L M Boon, F Lennon, D W Johnson, E A Helmbold, D S Markel, M Vikkula, J B Mulliken, and M L Warman
J Med Genet 1995; 32: 197-199. doi:10.1136/jmg.32.3.197 [Abstract] [PDF] [Request Permissions]

Absence of linkage between familial neural tube defects and PAX3 gene.
S Chatkupt, F A Hol, Y Y Shugart, M P Geurds, E S Stenroos, M R Koenigsberger, B C Hamel, W G Johnson, and E C Mariman
J Med Genet 1995; 32: 200-204. doi:10.1136/jmg.32.3.200 [Abstract] [PDF] [Request Permissions]

Further evidence for an intermittent pattern of neural tube closure in humans.
M J Seller
J Med Genet 1995; 32: 205-207. doi:10.1136/jmg.32.3.205 [Abstract] [PDF] [Request Permissions]

Haplotype analysis in autosomal dominant polycystic kidney disease.
S E Pound, S Thomas, A Snarey, A M Macnicol, M L Watson, P M Pignatelli, A M Frischauf, P C Harris, and A F Wright
J Med Genet 1995; 32: 208-212. doi:10.1136/jmg.32.3.208 [Abstract] [PDF] [Request Permissions]

Menkes disease.
A Bankier
J Med Genet 1995; 32: 213-215. doi:10.1136/jmg.32.3.213 [PDF] [Request Permissions]

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.
G Novelli, F Capon, L Tamisari, E Grandi, C Angelini, P Guerrini, and B Dallapiccola
J Med Genet 1995; 32: 216-219. doi:10.1136/jmg.32.3.216 [Abstract] [PDF] [Request Permissions]

A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.
P M Smooker, J Christodoulou, R R McInnes, and R G Cotton
J Med Genet 1995; 32: 220-223. doi:10.1136/jmg.32.3.220 [Abstract] [PDF] [Request Permissions]

Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.
C Y Gregory, K Evans, and S S Bhattacharya
J Med Genet 1995; 32: 224-226. doi:10.1136/jmg.32.3.224 [Abstract] [PDF] [Request Permissions]

Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
S A Lynch, K A Ashcroft, S Zwolinski, C Clarke, and J Burn
J Med Genet 1995; 32: 227-230. doi:10.1136/jmg.32.3.227 [Abstract] [PDF] [Request Permissions]

Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.
C Cudrey, C Chevillard, D Le Paslier, A Vignal, E Passage, and M Fontes
J Med Genet 1995; 32: 231-233. doi:10.1136/jmg.32.3.231 [Abstract] [PDF] [Request Permissions]

Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
J Eason, C M Hall, and J Q Trounce
J Med Genet 1995; 32: 234-235. doi:10.1136/jmg.32.3.234 [Abstract] [PDF] [Request Permissions]

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.
J N Macpherson, G Curtis, J A Crolla, N Dennis, B Migeon, P K Grewal, M C Hirst, K E Davies, and P A Jacobs
J Med Genet 1995; 32: 236-239. doi:10.1136/jmg.32.3.236 [Abstract] [PDF] [Request Permissions]

Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
C Y Gregory, S Wijesuriya, K Evans, M Jay, A C Bird, and S S Bhattacharya
J Med Genet 1995; 32: 240-241. doi:10.1136/jmg.32.3.240 [Abstract] [PDF] [Request Permissions]

Familial schizencephaly: further delineation of a rare disorder.
F Haverkamp, K Zerres, B Ostertun, D Emons, and M J Lentze
J Med Genet 1995; 32: 242-244. doi:10.1136/jmg.32.3.242 [Abstract] [PDF] [Request Permissions]

Thalassaemia in Azerbaijan.
D Gaziev
J Med Genet 1995; 32: 245. doi:10.1136/jmg.32.3.245 [PDF] [Request Permissions]

Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.
A Moncla, N Philip, and J F Mattei
J Med Genet 1995; 32: 245-246. doi:10.1136/jmg.32.3.245-a [PDF] [Request Permissions]

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	Genetic Factors in Drug Therapy: Clinical and Molecular Pharmacogenetics Martin Lennard J Med Genet 1995; 32: 246-247. doi:10.1136/jmg.32.3.246 [PDF] [Request Permissions]

	ABC of Clinical Genetics D De Silva J Med Genet 1995; 32: 247. doi:10.1136/jmg.32.3.247 [PDF] [Request Permissions]

	Genetics and Medicine in the United States 1800 to 1922 Alan E H Emery J Med Genet 1995; 32: 247. doi:10.1136/jmg.32.3.247-a [PDF] [Request Permissions]

	From Genetics to Gene Therapy David Rubinsztein J Med Genet 1995; 32: 247. doi:10.1136/jmg.32.3.247-b [PDF] [Request Permissions]

	Clinical Genetics Handbook S J Davies J Med Genet 1995; 32: 247-248. doi:10.1136/jmg.32.3.247-c [PDF] [Request Permissions]

	Guide to Techniques in Mouse Development Peter H Glenister J Med Genet 1995; 32: 248. doi:10.1136/jmg.32.3.248 [PDF] [Request Permissions]

	The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions S Antonarakis J Med Genet 1995; 32: 248. doi:10.1136/jmg.32.3.248-a [PDF] [Request Permissions]

	Genetic testing for cancer predisposition: need and demand. D G Evans J Med Genet 1995; 32: 161. doi:10.1136/jmg.32.3.161 [PDF] [Request Permissions]

	FRAXE and mental retardation. J C Mulley, S Yu, D Z Loesch, D A Hay, A Donnelly, A K Gedeon, P Carbonell, I López, G Glover, and I Gabarrón J Med Genet 1995; 32: 162-169. doi:10.1136/jmg.32.3.162 [Abstract] [PDF] [Request Permissions]

	A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. Q Wang, E Green, M Bobrow, and C G Mathew J Med Genet 1995; 32: 170-173. doi:10.1136/jmg.32.3.170 [Abstract] [PDF] [Request Permissions]

	Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. A O Wilkie, S P Yang, D Summers, M D Poole, W Reardon, and R M Winter J Med Genet 1995; 32: 174-180. doi:10.1136/jmg.32.3.174 [Abstract] [PDF] [Request Permissions]

	A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. T Webb, D Clarke, C A Hardy, M W Kilpatrick, J Corbett, and M Dahlitz J Med Genet 1995; 32: 181-185. doi:10.1136/jmg.32.3.181 [Abstract] [PDF] [Request Permissions]

	Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. C MacGeoch, G Turner, L G Bobrow, D M Barnes, D T Bishop, and N K Spurr J Med Genet 1995; 32: 186-190. doi:10.1136/jmg.32.3.186 [Abstract] [PDF] [Request Permissions]

	Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition. G Woods, G Black, and G Norbury J Med Genet 1995; 32: 191-196. doi:10.1136/jmg.32.3.191 [Abstract] [PDF] [Request Permissions]

	A gene for familial venous malformations maps to chromosome 9p in a second large kindred. C J Gallione, K A Pasyk, L M Boon, F Lennon, D W Johnson, E A Helmbold, D S Markel, M Vikkula, J B Mulliken, and M L Warman J Med Genet 1995; 32: 197-199. doi:10.1136/jmg.32.3.197 [Abstract] [PDF] [Request Permissions]

	Absence of linkage between familial neural tube defects and PAX3 gene. S Chatkupt, F A Hol, Y Y Shugart, M P Geurds, E S Stenroos, M R Koenigsberger, B C Hamel, W G Johnson, and E C Mariman J Med Genet 1995; 32: 200-204. doi:10.1136/jmg.32.3.200 [Abstract] [PDF] [Request Permissions]

	Further evidence for an intermittent pattern of neural tube closure in humans. M J Seller J Med Genet 1995; 32: 205-207. doi:10.1136/jmg.32.3.205 [Abstract] [PDF] [Request Permissions]

	Haplotype analysis in autosomal dominant polycystic kidney disease. S E Pound, S Thomas, A Snarey, A M Macnicol, M L Watson, P M Pignatelli, A M Frischauf, P C Harris, and A F Wright J Med Genet 1995; 32: 208-212. doi:10.1136/jmg.32.3.208 [Abstract] [PDF] [Request Permissions]

	Menkes disease. A Bankier J Med Genet 1995; 32: 213-215. doi:10.1136/jmg.32.3.213 [PDF] [Request Permissions]

	Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13. G Novelli, F Capon, L Tamisari, E Grandi, C Angelini, P Guerrini, and B Dallapiccola J Med Genet 1995; 32: 216-219. doi:10.1136/jmg.32.3.216 [Abstract] [PDF] [Request Permissions]

	A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect. P M Smooker, J Christodoulou, R R McInnes, and R G Cotton J Med Genet 1995; 32: 220-223. doi:10.1136/jmg.32.3.220 [Abstract] [PDF] [Request Permissions]

	Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval. C Y Gregory, K Evans, and S S Bhattacharya J Med Genet 1995; 32: 224-226. doi:10.1136/jmg.32.3.224 [Abstract] [PDF] [Request Permissions]

	Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. S A Lynch, K A Ashcroft, S Zwolinski, C Clarke, and J Burn J Med Genet 1995; 32: 227-230. doi:10.1136/jmg.32.3.227 [Abstract] [PDF] [Request Permissions]

	Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis. C Cudrey, C Chevillard, D Le Paslier, A Vignal, E Passage, and M Fontes J Med Genet 1995; 32: 231-233. doi:10.1136/jmg.32.3.231 [Abstract] [PDF] [Request Permissions]

	Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism. J Eason, C M Hall, and J Q Trounce J Med Genet 1995; 32: 234-235. doi:10.1136/jmg.32.3.234 [Abstract] [PDF] [Request Permissions]

	Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. J N Macpherson, G Curtis, J A Crolla, N Dennis, B Migeon, P K Grewal, M C Hirst, K E Davies, and P A Jacobs J Med Genet 1995; 32: 236-239. doi:10.1136/jmg.32.3.236 [Abstract] [PDF] [Request Permissions]

	Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. C Y Gregory, S Wijesuriya, K Evans, M Jay, A C Bird, and S S Bhattacharya J Med Genet 1995; 32: 240-241. doi:10.1136/jmg.32.3.240 [Abstract] [PDF] [Request Permissions]

	Familial schizencephaly: further delineation of a rare disorder. F Haverkamp, K Zerres, B Ostertun, D Emons, and M J Lentze J Med Genet 1995; 32: 242-244. doi:10.1136/jmg.32.3.242 [Abstract] [PDF] [Request Permissions]

	Thalassaemia in Azerbaijan. D Gaziev J Med Genet 1995; 32: 245. doi:10.1136/jmg.32.3.245 [PDF] [Request Permissions]

	Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. A Moncla, N Philip, and J F Mattei J Med Genet 1995; 32: 245-246. doi:10.1136/jmg.32.3.245-a [PDF] [Request Permissions]