J Med Genet -- Table of Contents (22 [3])

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June 1985 (Volume 22, Number 3). [Index by author]

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Articles

Editorial
C A Clarke
J Med Genet 1985; 22: 161-163. doi:10.1136/jmg.22.3.161 [PDF] [Request Permissions]

Book Reviews

Prenatal Diagnosis. Special Issue. Collaborative Studies in Prenatal Diagnosis of Chromosome Aberrations
P Cooke
J Med Genet 1985; 22: 237. doi:10.1136/jmg.22.3.237 [PDF] [Request Permissions]

Catalogue of Unbalanced Chromosome Aberrations in Man
S H Roberts
J Med Genet 1985; 22: 237-238. doi:10.1136/jmg.22.3.237-a [PDF] [Request Permissions]

Clinical Atlas of Human Chromosomes
Martin Bobrow
J Med Genet 1985; 22: 238. doi:10.1136/jmg.22.3.238 [PDF] [Request Permissions]

Principles and Practice of Medical Genetics
Peter S Harper
J Med Genet 1985; 22: 238-239. doi:10.1136/jmg.22.3.238-a [PDF] [Request Permissions]

The Antibody Enigma
Alan E H Emery
J Med Genet 1985; 22: 239-240. doi:10.1136/jmg.22.3.239 [PDF] [Request Permissions]

Birth Defects: Clinical and Ethical Considerations
Dian Donnai
J Med Genet 1985; 22: 240. doi:10.1136/jmg.22.3.240 [PDF] [Request Permissions]

Research Article

Erroneous theories of sex determination.
U Mittwoch
J Med Genet 1985; 22: 164-170. doi:10.1136/jmg.22.3.164 [Abstract] [PDF] [Request Permissions]

An hypothesis regarding the origin of aneuploidy in man: indirect evidence from an experimental model.
M H Kaufman
J Med Genet 1985; 22: 171-178. doi:10.1136/jmg.22.3.171 [Abstract] [PDF] [Request Permissions]

Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome.
C S Brown, P L Pearson, N S Thomas, M Sarfarazi, P S Harper, and D J Shaw
J Med Genet 1985; 22: 179-181. doi:10.1136/jmg.22.3.179 [Abstract] [PDF] [Request Permissions]

Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.
A F Grobler-Rabie, D K Brebner, S Vandenplas, G Wallis, R Dalgleish, R E Kaufman, A J Bester, C G Mathew, and C D Boyd
J Med Genet 1985; 22: 182-186. doi:10.1136/jmg.22.3.182 [Abstract] [PDF] [Request Permissions]

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.
B Sykes, R Smith, S Vipond, C Paterson, K Cheah, and E Solomon
J Med Genet 1985; 22: 187-191. doi:10.1136/jmg.22.3.187 [Abstract] [PDF] [Request Permissions]

Seckel syndrome: an overdiagnosed syndrome.
E Thompson and M Pembrey
J Med Genet 1985; 22: 192-201. doi:10.1136/jmg.22.3.192 [Abstract] [PDF] [Request Permissions]

A new brachydactyly syndrome with similarities to Julia Bell types B and E.
P Pitt and I Williams
J Med Genet 1985; 22: 202-204. doi:10.1136/jmg.22.3.202 [Abstract] [PDF] [Request Permissions]

Clinical and haematological evaluation of beta thalassaemia intermedia with increased Hb F and Hb A2 in heterozygotes: beta thalassaemia intermedia I.
C Altay and A Gurgey
J Med Genet 1985; 22: 205-212. doi:10.1136/jmg.22.3.205 [Abstract] [PDF] [Request Permissions]

Clinical and haematological evaluation of beta thalassaemia intermedia characterised by unusually low Hb F and increased Hb A2: beta thalassaemia intermedia II.
A Gurgey, S Kayin, E Kansu, and C Altay
J Med Genet 1985; 22: 213-221. doi:10.1136/jmg.22.3.213 [Abstract] [PDF] [Request Permissions]

Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome.
E Orye, M Craen, G Laureys, R van Coster, and B van Mele
J Med Genet 1985; 22: 222-224. doi:10.1136/jmg.22.3.222 [Abstract] [PDF] [Request Permissions]

Interstitial deletion of the long arm of chromosome 11.
J M Klep-de Pater, H F de France, and J B Bijlsma
J Med Genet 1985; 22: 224-226. doi:10.1136/jmg.22.3.224 [Abstract] [PDF] [Request Permissions]

Interstitial deletion 2q24.3: case report with high resolution banding.
J Bernar, R S Sparkes, and S Allensworth
J Med Genet 1985; 22: 226-228. doi:10.1136/jmg.22.3.226 [Abstract] [PDF] [Request Permissions]

Hyperinsulinaemic hypoglycaemia in an infant with mosaic trisomy 13.
V S Smith and G P Giacoia
J Med Genet 1985; 22: 228-230. doi:10.1136/jmg.22.3.228 [Abstract] [PDF] [Request Permissions]

Complex cardiac malformation in a case of trisomy 9.
T Williams, I Zardawi, R Quaife, and I D Young
J Med Genet 1985; 22: 230-233. doi:10.1136/jmg.22.3.230 [Abstract] [PDF] [Request Permissions]

Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.
G N Wilson, S E Sauder, M Bush, and I Z Beitins
J Med Genet 1985; 22: 233-236. doi:10.1136/jmg.22.3.233 [Abstract] [PDF] [Request Permissions]

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	Editorial C A Clarke J Med Genet 1985; 22: 161-163. doi:10.1136/jmg.22.3.161 [PDF] [Request Permissions]

	Prenatal Diagnosis. Special Issue. Collaborative Studies in Prenatal Diagnosis of Chromosome Aberrations P Cooke J Med Genet 1985; 22: 237. doi:10.1136/jmg.22.3.237 [PDF] [Request Permissions]

	Catalogue of Unbalanced Chromosome Aberrations in Man S H Roberts J Med Genet 1985; 22: 237-238. doi:10.1136/jmg.22.3.237-a [PDF] [Request Permissions]

	Clinical Atlas of Human Chromosomes Martin Bobrow J Med Genet 1985; 22: 238. doi:10.1136/jmg.22.3.238 [PDF] [Request Permissions]

	Principles and Practice of Medical Genetics Peter S Harper J Med Genet 1985; 22: 238-239. doi:10.1136/jmg.22.3.238-a [PDF] [Request Permissions]

	The Antibody Enigma Alan E H Emery J Med Genet 1985; 22: 239-240. doi:10.1136/jmg.22.3.239 [PDF] [Request Permissions]

	Birth Defects: Clinical and Ethical Considerations Dian Donnai J Med Genet 1985; 22: 240. doi:10.1136/jmg.22.3.240 [PDF] [Request Permissions]

	Erroneous theories of sex determination. U Mittwoch J Med Genet 1985; 22: 164-170. doi:10.1136/jmg.22.3.164 [Abstract] [PDF] [Request Permissions]

	An hypothesis regarding the origin of aneuploidy in man: indirect evidence from an experimental model. M H Kaufman J Med Genet 1985; 22: 171-178. doi:10.1136/jmg.22.3.171 [Abstract] [PDF] [Request Permissions]

	Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome. C S Brown, P L Pearson, N S Thomas, M Sarfarazi, P S Harper, and D J Shaw J Med Genet 1985; 22: 179-181. doi:10.1136/jmg.22.3.179 [Abstract] [PDF] [Request Permissions]

	Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene. A F Grobler-Rabie, D K Brebner, S Vandenplas, G Wallis, R Dalgleish, R E Kaufman, A J Bester, C G Mathew, and C D Boyd J Med Genet 1985; 22: 182-186. doi:10.1136/jmg.22.3.182 [Abstract] [PDF] [Request Permissions]

	Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta. B Sykes, R Smith, S Vipond, C Paterson, K Cheah, and E Solomon J Med Genet 1985; 22: 187-191. doi:10.1136/jmg.22.3.187 [Abstract] [PDF] [Request Permissions]

	Seckel syndrome: an overdiagnosed syndrome. E Thompson and M Pembrey J Med Genet 1985; 22: 192-201. doi:10.1136/jmg.22.3.192 [Abstract] [PDF] [Request Permissions]

	A new brachydactyly syndrome with similarities to Julia Bell types B and E. P Pitt and I Williams J Med Genet 1985; 22: 202-204. doi:10.1136/jmg.22.3.202 [Abstract] [PDF] [Request Permissions]

	Clinical and haematological evaluation of beta thalassaemia intermedia with increased Hb F and Hb A2 in heterozygotes: beta thalassaemia intermedia I. C Altay and A Gurgey J Med Genet 1985; 22: 205-212. doi:10.1136/jmg.22.3.205 [Abstract] [PDF] [Request Permissions]

	Clinical and haematological evaluation of beta thalassaemia intermedia characterised by unusually low Hb F and increased Hb A2: beta thalassaemia intermedia II. A Gurgey, S Kayin, E Kansu, and C Altay J Med Genet 1985; 22: 213-221. doi:10.1136/jmg.22.3.213 [Abstract] [PDF] [Request Permissions]

	Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome. E Orye, M Craen, G Laureys, R van Coster, and B van Mele J Med Genet 1985; 22: 222-224. doi:10.1136/jmg.22.3.222 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion of the long arm of chromosome 11. J M Klep-de Pater, H F de France, and J B Bijlsma J Med Genet 1985; 22: 224-226. doi:10.1136/jmg.22.3.224 [Abstract] [PDF] [Request Permissions]

	Interstitial deletion 2q24.3: case report with high resolution banding. J Bernar, R S Sparkes, and S Allensworth J Med Genet 1985; 22: 226-228. doi:10.1136/jmg.22.3.226 [Abstract] [PDF] [Request Permissions]

	Hyperinsulinaemic hypoglycaemia in an infant with mosaic trisomy 13. V S Smith and G P Giacoia J Med Genet 1985; 22: 228-230. doi:10.1136/jmg.22.3.228 [Abstract] [PDF] [Request Permissions]

	Complex cardiac malformation in a case of trisomy 9. T Williams, I Zardawi, R Quaife, and I D Young J Med Genet 1985; 22: 230-233. doi:10.1136/jmg.22.3.230 [Abstract] [PDF] [Request Permissions]

	Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. G N Wilson, S E Sauder, M Bush, and I Z Beitins J Med Genet 1985; 22: 233-236. doi:10.1136/jmg.22.3.233 [Abstract] [PDF] [Request Permissions]