J Med Genet -- Table of Contents (23 [2])

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April 1986 (Volume 23, Number 2). [Index by author]

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Articles

Abstracts of the meeting of the Clinical Genetics Society held at the Clinical Research Centre, Northwick Park Hospital, London on 8 and 9 November 1985
J Med Genet 1986; 23: 165-170. doi:10.1136/jmg.23.2.165 [PDF] [Request Permissions]

Research Article

Molecular euphoria.
R Harris
J Med Genet 1986; 23: 97-98. doi:10.1136/jmg.23.2.97 [PDF] [Request Permissions]

Of mice and men, metals and mutations.
D M Danks
J Med Genet 1986; 23: 99-106. doi:10.1136/jmg.23.2.99 [Abstract] [PDF] [Request Permissions]

Chromosome 1 in relation to human disease.
S Povey and J M Parrington
J Med Genet 1986; 23: 107-115. doi:10.1136/jmg.23.2.107 [Abstract] [PDF] [Request Permissions]

The orofaciodigital (OFD) syndromes.
M Baraitser
J Med Genet 1986; 23: 116-119. doi:10.1136/jmg.23.2.116 [PDF] [Request Permissions]

Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.
J Köbberling and M G Dunnigan
J Med Genet 1986; 23: 120-127. doi:10.1136/jmg.23.2.120 [Abstract] [PDF] [Request Permissions]

Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).
J Burn and M Baraitser
J Med Genet 1986; 23: 128-130. doi:10.1136/jmg.23.2.128 [Abstract] [PDF] [Request Permissions]

Familial polyposis coli: growth characteristics of karyotypically variable cultured fibroblasts, response to epidermal growth factor and the tumour promoter 12-0-tetradecanoyl phorbol-13-acetate.
S H Rider, H A Mazzullo, M B Davis, and J D Delhanty
J Med Genet 1986; 23: 131-144. doi:10.1136/jmg.23.2.131 [Abstract] [PDF] [Request Permissions]

A new epsilon globin HincII variant fragment length in a South African Negroid family.
M Ramsay, J A Thomson, and T Jenkins
J Med Genet 1986; 23: 145-150. doi:10.1136/jmg.23.2.145 [Abstract] [PDF] [Request Permissions]

Abnormal haemoglobins among pregnant women from Mozambique.
M C Willcox, J Liljestrand, and S Bergström
J Med Genet 1986; 23: 151-152. doi:10.1136/jmg.23.2.151 [Abstract] [PDF] [Request Permissions]

Monosomy 8p: an easily overlooked syndrome.
A H Bröcker-Vriends, P D Mooij, F van Bel, G C Beverstock, and J J van de Kamp
J Med Genet 1986; 23: 153-154. doi:10.1136/jmg.23.2.153 [Abstract] [PDF] [Request Permissions]

The relationship between the acetylator and the sparteine hydroxylation polymorphisms.
D Harmer, D A Evans, L C Eze, M Jolly, and E J Whibley
J Med Genet 1986; 23: 155-156. doi:10.1136/jmg.23.2.155 [Abstract] [PDF] [Request Permissions]

Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.
L Mehta, J Q Trounce, J R Moore, and I D Young
J Med Genet 1986; 23: 157-160. doi:10.1136/jmg.23.2.157 [Abstract] [PDF] [Request Permissions]

A Noonan-like short stature syndrome with sparse hair.
M Baraitser and M A Patton
J Med Genet 1986; 23: 161-164. doi:10.1136/jmg.23.2.161 [Abstract] [PDF] [Request Permissions]

Duchenne muscular dystrophy in a female with a translocation involving Xp21.
N C Nevin, A E Hughes, M Calwell, and J H Lim
J Med Genet 1986; 23: 171-173. doi:10.1136/jmg.23.2.171 [Abstract] [PDF] [Request Permissions]

An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.
P R Scarbrough, K Huddleston, and S C Finley
J Med Genet 1986; 23: 174-175. doi:10.1136/jmg.23.2.174 [Abstract] [PDF] [Request Permissions]

Possible Waardenburg syndrome with gastrointestinal anomalies.
J Nutman, R Steinherz, Y Sivan, and R M Goodman
J Med Genet 1986; 23: 175-178. doi:10.1136/jmg.23.2.175 [Abstract] [PDF] [Request Permissions]

Multifocal meningiomas in a patient with a constitutional ring chromosome 22.
T Arinami, I Kondo, H Hamaguchi, and S Nakajima
J Med Genet 1986; 23: 178-180. doi:10.1136/jmg.23.2.178 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.
M H Bogart, C L Bradshaw, O W Jones, and J E Schanberger
J Med Genet 1986; 23: 180-183. doi:10.1136/jmg.23.2.180 [Abstract] [PDF] [Request Permissions]

Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome.
S M Abidi, M Griffiths, D G Oscier, G J Mufti, and T J Hamblin
J Med Genet 1986; 23: 183-185. doi:10.1136/jmg.23.2.183 [Abstract] [PDF] [Request Permissions]

Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.
P R Scarbrough, A J Carroll, S C Finley, and K Hamerick
J Med Genet 1986; 23: 185-187. doi:10.1136/jmg.23.2.185 [Abstract] [PDF] [Request Permissions]

A study of retinitis pigmentosa in the city of Birmingham.
S Bundey and S J Crews
J Med Genet 1986; 23: 188. doi:10.1136/jmg.23.2.188 [PDF] [Request Permissions]

Cornelia de Lange syndrome.
R M Winter
J Med Genet 1986; 23: 188. doi:10.1136/jmg.23.2.188-a [PDF] [Request Permissions]

A pedigree study of perinatally lethal renal disease.
A Hockey, J Crowhurst, and I Walpole
J Med Genet 1986; 23: 188-189. doi:10.1136/jmg.23.2.188-b [PDF] [Request Permissions]

Mosaic trisomy 9.
J M Sánchez
J Med Genet 1986; 23: 189. doi:10.1136/jmg.23.2.189 [PDF] [Request Permissions]

Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs.
A S Teebi and S A Al Awadi
J Med Genet 1986; 23: 189-191. doi:10.1136/jmg.23.2.189-a [PDF] [Request Permissions]

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	Abstracts of the meeting of the Clinical Genetics Society held at the Clinical Research Centre, Northwick Park Hospital, London on 8 and 9 November 1985 J Med Genet 1986; 23: 165-170. doi:10.1136/jmg.23.2.165 [PDF] [Request Permissions]

	Molecular euphoria. R Harris J Med Genet 1986; 23: 97-98. doi:10.1136/jmg.23.2.97 [PDF] [Request Permissions]

	Of mice and men, metals and mutations. D M Danks J Med Genet 1986; 23: 99-106. doi:10.1136/jmg.23.2.99 [Abstract] [PDF] [Request Permissions]

	Chromosome 1 in relation to human disease. S Povey and J M Parrington J Med Genet 1986; 23: 107-115. doi:10.1136/jmg.23.2.107 [Abstract] [PDF] [Request Permissions]

	The orofaciodigital (OFD) syndromes. M Baraitser J Med Genet 1986; 23: 116-119. doi:10.1136/jmg.23.2.116 [PDF] [Request Permissions]

	Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. J Köbberling and M G Dunnigan J Med Genet 1986; 23: 120-127. doi:10.1136/jmg.23.2.120 [Abstract] [PDF] [Request Permissions]

	Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). J Burn and M Baraitser J Med Genet 1986; 23: 128-130. doi:10.1136/jmg.23.2.128 [Abstract] [PDF] [Request Permissions]

	Familial polyposis coli: growth characteristics of karyotypically variable cultured fibroblasts, response to epidermal growth factor and the tumour promoter 12-0-tetradecanoyl phorbol-13-acetate. S H Rider, H A Mazzullo, M B Davis, and J D Delhanty J Med Genet 1986; 23: 131-144. doi:10.1136/jmg.23.2.131 [Abstract] [PDF] [Request Permissions]

	A new epsilon globin HincII variant fragment length in a South African Negroid family. M Ramsay, J A Thomson, and T Jenkins J Med Genet 1986; 23: 145-150. doi:10.1136/jmg.23.2.145 [Abstract] [PDF] [Request Permissions]

	Abnormal haemoglobins among pregnant women from Mozambique. M C Willcox, J Liljestrand, and S Bergström J Med Genet 1986; 23: 151-152. doi:10.1136/jmg.23.2.151 [Abstract] [PDF] [Request Permissions]

	Monosomy 8p: an easily overlooked syndrome. A H Bröcker-Vriends, P D Mooij, F van Bel, G C Beverstock, and J J van de Kamp J Med Genet 1986; 23: 153-154. doi:10.1136/jmg.23.2.153 [Abstract] [PDF] [Request Permissions]

	The relationship between the acetylator and the sparteine hydroxylation polymorphisms. D Harmer, D A Evans, L C Eze, M Jolly, and E J Whibley J Med Genet 1986; 23: 155-156. doi:10.1136/jmg.23.2.155 [Abstract] [PDF] [Request Permissions]

	Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. L Mehta, J Q Trounce, J R Moore, and I D Young J Med Genet 1986; 23: 157-160. doi:10.1136/jmg.23.2.157 [Abstract] [PDF] [Request Permissions]

	A Noonan-like short stature syndrome with sparse hair. M Baraitser and M A Patton J Med Genet 1986; 23: 161-164. doi:10.1136/jmg.23.2.161 [Abstract] [PDF] [Request Permissions]

	Duchenne muscular dystrophy in a female with a translocation involving Xp21. N C Nevin, A E Hughes, M Calwell, and J H Lim J Med Genet 1986; 23: 171-173. doi:10.1136/jmg.23.2.171 [Abstract] [PDF] [Request Permissions]

	An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. P R Scarbrough, K Huddleston, and S C Finley J Med Genet 1986; 23: 174-175. doi:10.1136/jmg.23.2.174 [Abstract] [PDF] [Request Permissions]

	Possible Waardenburg syndrome with gastrointestinal anomalies. J Nutman, R Steinherz, Y Sivan, and R M Goodman J Med Genet 1986; 23: 175-178. doi:10.1136/jmg.23.2.175 [Abstract] [PDF] [Request Permissions]

	Multifocal meningiomas in a patient with a constitutional ring chromosome 22. T Arinami, I Kondo, H Hamaguchi, and S Nakajima J Med Genet 1986; 23: 178-180. doi:10.1136/jmg.23.2.178 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement. M H Bogart, C L Bradshaw, O W Jones, and J E Schanberger J Med Genet 1986; 23: 180-183. doi:10.1136/jmg.23.2.180 [Abstract] [PDF] [Request Permissions]

	Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. S M Abidi, M Griffiths, D G Oscier, G J Mufti, and T J Hamblin J Med Genet 1986; 23: 183-185. doi:10.1136/jmg.23.2.183 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation. P R Scarbrough, A J Carroll, S C Finley, and K Hamerick J Med Genet 1986; 23: 185-187. doi:10.1136/jmg.23.2.185 [Abstract] [PDF] [Request Permissions]

	A study of retinitis pigmentosa in the city of Birmingham. S Bundey and S J Crews J Med Genet 1986; 23: 188. doi:10.1136/jmg.23.2.188 [PDF] [Request Permissions]

	Cornelia de Lange syndrome. R M Winter J Med Genet 1986; 23: 188. doi:10.1136/jmg.23.2.188-a [PDF] [Request Permissions]

	A pedigree study of perinatally lethal renal disease. A Hockey, J Crowhurst, and I Walpole J Med Genet 1986; 23: 188-189. doi:10.1136/jmg.23.2.188-b [PDF] [Request Permissions]

	Mosaic trisomy 9. J M Sánchez J Med Genet 1986; 23: 189. doi:10.1136/jmg.23.2.189 [PDF] [Request Permissions]

	Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. A S Teebi and S A Al Awadi J Med Genet 1986; 23: 189-191. doi:10.1136/jmg.23.2.189-a [PDF] [Request Permissions]