J Med Genet -- Table of Contents (27 [2])

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February 1990 (Volume 27, Number 2). [Index by author]

		Book Reviews Letters to the Editor Research Article

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Book Reviews

Retinitis Pigmentosa: Patients' Fight for Sight
Marcelle Jay
J Med Genet 1990; 27: 142. doi:10.1136/jmg.27.2.142-a [PDF] [Request Permissions]

Book reviews
Andrew P Read
J Med Genet 1990; 27: 142-143. doi:10.1136/jmg.27.2.142-b [PDF] [Request Permissions]

Beyond Conception: The New Politics of Reproduction
C Garrett
J Med Genet 1990; 27: 143. doi:10.1136/jmg.27.2.143 [PDF] [Request Permissions]

Cystic Fibrosis
Ann Harris
J Med Genet 1990; 27: 144. doi:10.1136/jmg.27.2.144 [PDF] [Request Permissions]

Letters to the Editor

A video presentation `Talking about Tay-Sachs'
Ian Ellis
J Med Genet 1990; 27: 142. doi:10.1136/jmg.27.2.142 [PDF] [Request Permissions]

Research Article

An exclusion map of Marfan syndrome.
S H Blanton, M Sarfarazi, H Eiberg, J de Groote, P A Farndon, M W Kilpatrick, A H Child, F M Pope, L Peltonen, and C A Francomano
J Med Genet 1990; 27: 73-77. doi:10.1136/jmg.27.2.73 [Abstract] [PDF] [Request Permissions]

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.
C Boileau, G Jondeau, C Bonaiti, M Coulon, G Delorme, O Dubourg, J P Bourdarias, and C Junien
J Med Genet 1990; 27: 78-81. doi:10.1136/jmg.27.2.78 [Abstract] [PDF] [Request Permissions]

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.
J de Groote, P A Farndon, M V Kilpatrick, A de Paepe, J W Oorthuys, N C Nevin, A H Child, and F M Pope
J Med Genet 1990; 27: 82-85. doi:10.1136/jmg.27.2.82 [Abstract] [PDF] [Request Permissions]

Linkage analysis in Marfan syndrome.
R C Schwartz, S H Blanton, C A Hyde, T R Sottile, Jr, L Hudgins, M Sarfarazi, and P Tsipouras
J Med Genet 1990; 27: 86-90. doi:10.1136/jmg.27.2.86 [Abstract] [PDF] [Request Permissions]

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.
A E Fryer, M Upadhyaya, M Littler, P Bacon, D Watkins, P Tsipouras, and P S Harper
J Med Genet 1990; 27: 91-93. doi:10.1136/jmg.27.2.91 [Abstract] [PDF] [Request Permissions]

Cardiovascular studies in the mucopolysaccharidoses.
J Nelson, M D Shields, and H C Mulholland
J Med Genet 1990; 27: 94-100. doi:10.1136/jmg.27.2.94 [Abstract] [PDF] [Request Permissions]

Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.
E D Kelly, C A Graham, A J Hill, and N C Nevin
J Med Genet 1990; 27: 101-104. doi:10.1136/jmg.27.2.101 [Abstract] [PDF] [Request Permissions]

Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.
I Kondo, H Ohta, M Yazaki, J E Ikeda, J F Gusella, and I Kanazawa
J Med Genet 1990; 27: 105-108. doi:10.1136/jmg.27.2.105 [Abstract] [PDF] [Request Permissions]

Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.
D R Romain, H Cairney, D Stewart, L M Columbano-Green, M Garry, M I Parslow, R Parfitt, R H Smythe, and C J Chapman
J Med Genet 1990; 27: 109-113. doi:10.1136/jmg.27.2.109 [Abstract] [PDF] [Request Permissions]

Yunis-Varon syndrome with severe osteodysplasty.
C Garrett, A C Berry, R H Simpson, and C M Hall
J Med Genet 1990; 27: 114-121. doi:10.1136/jmg.27.2.114 [Abstract] [PDF] [Request Permissions]

Moebius syndrome.
D Kumar
J Med Genet 1990; 27: 122-126. doi:10.1136/jmg.27.2.122 [PDF] [Request Permissions]

A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.
A van Haeringen, J A Hurst, R Savidge, and M Baraitser
J Med Genet 1990; 27: 127-129. doi:10.1136/jmg.27.2.127 [Abstract] [PDF] [Request Permissions]

Neuroblastoma in a patient with Sotos' syndrome.
M A Nance, J P Neglia, D Talwar, and S A Berry
J Med Genet 1990; 27: 130-132. doi:10.1136/jmg.27.2.130 [Abstract] [PDF] [Request Permissions]

Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
S Keidar, A Etzioni, J G Brook, R Gershoni-Baruch, and M Aviram
J Med Genet 1990; 27: 133-134. doi:10.1136/jmg.27.2.133 [Abstract] [PDF] [Request Permissions]

Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.
N C Nevin, P J Morrison, J Jones, and M M Reid
J Med Genet 1990; 27: 135-136. doi:10.1136/jmg.27.2.135 [Abstract] [PDF] [Request Permissions]

An apparent de novo terminal deletion of chromosome 2 (pter----p24:).
G L Francis, D B Flannery, J R Byrd, and S T Fisher
J Med Genet 1990; 27: 137-138. doi:10.1136/jmg.27.2.137 [PDF] [Request Permissions]

A workshop on Marfan syndrome, 10 June 1989, Farmington, CT, USA.
P Tsipouras
J Med Genet 1990; 27: 139-140. doi:10.1136/jmg.27.2.139 [PDF] [Request Permissions]

Angelman's syndrome, abnormality of 15q11-13, and imprinting.
J G Hall
J Med Genet 1990; 27: 141. doi:10.1136/jmg.27.2.141 [PDF] [Request Permissions]

Unilateral disomy as a possible explanation for Russell-Silver syndrome.
J G Hall
J Med Genet 1990; 27: 141-142. doi:10.1136/jmg.27.2.141-a [PDF] [Request Permissions]

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	Retinitis Pigmentosa: Patients' Fight for Sight Marcelle Jay J Med Genet 1990; 27: 142. doi:10.1136/jmg.27.2.142-a [PDF] [Request Permissions]

	Book reviews Andrew P Read J Med Genet 1990; 27: 142-143. doi:10.1136/jmg.27.2.142-b [PDF] [Request Permissions]

	Beyond Conception: The New Politics of Reproduction C Garrett J Med Genet 1990; 27: 143. doi:10.1136/jmg.27.2.143 [PDF] [Request Permissions]

	Cystic Fibrosis Ann Harris J Med Genet 1990; 27: 144. doi:10.1136/jmg.27.2.144 [PDF] [Request Permissions]

	A video presentation `Talking about Tay-Sachs' Ian Ellis J Med Genet 1990; 27: 142. doi:10.1136/jmg.27.2.142 [PDF] [Request Permissions]

	An exclusion map of Marfan syndrome. S H Blanton, M Sarfarazi, H Eiberg, J de Groote, P A Farndon, M W Kilpatrick, A H Child, F M Pope, L Peltonen, and C A Francomano J Med Genet 1990; 27: 73-77. doi:10.1136/jmg.27.2.73 [Abstract] [PDF] [Request Permissions]

	Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. C Boileau, G Jondeau, C Bonaiti, M Coulon, G Delorme, O Dubourg, J P Bourdarias, and C Junien J Med Genet 1990; 27: 78-81. doi:10.1136/jmg.27.2.78 [Abstract] [PDF] [Request Permissions]

	Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. J de Groote, P A Farndon, M V Kilpatrick, A de Paepe, J W Oorthuys, N C Nevin, A H Child, and F M Pope J Med Genet 1990; 27: 82-85. doi:10.1136/jmg.27.2.82 [Abstract] [PDF] [Request Permissions]

	Linkage analysis in Marfan syndrome. R C Schwartz, S H Blanton, C A Hyde, T R Sottile, Jr, L Hudgins, M Sarfarazi, and P Tsipouras J Med Genet 1990; 27: 86-90. doi:10.1136/jmg.27.2.86 [Abstract] [PDF] [Request Permissions]

	Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. A E Fryer, M Upadhyaya, M Littler, P Bacon, D Watkins, P Tsipouras, and P S Harper J Med Genet 1990; 27: 91-93. doi:10.1136/jmg.27.2.91 [Abstract] [PDF] [Request Permissions]

	Cardiovascular studies in the mucopolysaccharidoses. J Nelson, M D Shields, and H C Mulholland J Med Genet 1990; 27: 94-100. doi:10.1136/jmg.27.2.94 [Abstract] [PDF] [Request Permissions]

	Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis. E D Kelly, C A Graham, A J Hill, and N C Nevin J Med Genet 1990; 27: 101-104. doi:10.1136/jmg.27.2.101 [Abstract] [PDF] [Request Permissions]

	Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. I Kondo, H Ohta, M Yazaki, J E Ikeda, J F Gusella, and I Kanazawa J Med Genet 1990; 27: 105-108. doi:10.1136/jmg.27.2.105 [Abstract] [PDF] [Request Permissions]

	Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. D R Romain, H Cairney, D Stewart, L M Columbano-Green, M Garry, M I Parslow, R Parfitt, R H Smythe, and C J Chapman J Med Genet 1990; 27: 109-113. doi:10.1136/jmg.27.2.109 [Abstract] [PDF] [Request Permissions]

	Yunis-Varon syndrome with severe osteodysplasty. C Garrett, A C Berry, R H Simpson, and C M Hall J Med Genet 1990; 27: 114-121. doi:10.1136/jmg.27.2.114 [Abstract] [PDF] [Request Permissions]

	Moebius syndrome. D Kumar J Med Genet 1990; 27: 122-126. doi:10.1136/jmg.27.2.122 [PDF] [Request Permissions]

	A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures. A van Haeringen, J A Hurst, R Savidge, and M Baraitser J Med Genet 1990; 27: 127-129. doi:10.1136/jmg.27.2.127 [Abstract] [PDF] [Request Permissions]

	Neuroblastoma in a patient with Sotos' syndrome. M A Nance, J P Neglia, D Talwar, and S A Berry J Med Genet 1990; 27: 130-132. doi:10.1136/jmg.27.2.130 [Abstract] [PDF] [Request Permissions]

	Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. S Keidar, A Etzioni, J G Brook, R Gershoni-Baruch, and M Aviram J Med Genet 1990; 27: 133-134. doi:10.1136/jmg.27.2.133 [Abstract] [PDF] [Request Permissions]

	Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase. N C Nevin, P J Morrison, J Jones, and M M Reid J Med Genet 1990; 27: 135-136. doi:10.1136/jmg.27.2.135 [Abstract] [PDF] [Request Permissions]

	An apparent de novo terminal deletion of chromosome 2 (pter----p24:). G L Francis, D B Flannery, J R Byrd, and S T Fisher J Med Genet 1990; 27: 137-138. doi:10.1136/jmg.27.2.137 [PDF] [Request Permissions]

	A workshop on Marfan syndrome, 10 June 1989, Farmington, CT, USA. P Tsipouras J Med Genet 1990; 27: 139-140. doi:10.1136/jmg.27.2.139 [PDF] [Request Permissions]

	Angelman's syndrome, abnormality of 15q11-13, and imprinting. J G Hall J Med Genet 1990; 27: 141. doi:10.1136/jmg.27.2.141 [PDF] [Request Permissions]

	Unilateral disomy as a possible explanation for Russell-Silver syndrome. J G Hall J Med Genet 1990; 27: 141-142. doi:10.1136/jmg.27.2.141-a [PDF] [Request Permissions]