J Med Genet -- Table of Contents (23 [1])

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February 1986 (Volume 23, Number 1). [Index by author]

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Articles

Editorial
Peter S Harper
J Med Genet 1986; 23: 1. doi:10.1136/jmg.23.1.1 [PDF] [Request Permissions]

Abstracts of the annual scientific meeting of the Association of Clinical Cytogeneticists held at the University of Newcastle upon Tyne on 3 and 4 July 1985
J Med Genet 1986; 23: 79-81. doi:10.1136/jmg.23.1.79 [PDF] [Request Permissions]

Book Reviews

Chimeras in Developmental Biology
S Povey
J Med Genet 1986; 23: 94. doi:10.1136/jmg.23.1.94 [PDF] [Request Permissions]

Mutation, Cancer and Malformation
J E N Morten
J Med Genet 1986; 23: 94-95. doi:10.1136/jmg.23.1.94-a [PDF] [Request Permissions]

An Atlas of Characteristic Syndromes
Peter S Harper
J Med Genet 1986; 23: 95. doi:10.1136/jmg.23.1.95 [PDF] [Request Permissions]

Molecular Genetics of Common Metabolic Disease
Alan E H Emery
J Med Genet 1986; 23: 95. doi:10.1136/jmg.23.1.95-a [PDF] [Request Permissions]

Research Article

Gene mapping and chromosome 19.
D J Shaw, J D Brook, A L Meredith, H G Harley, M Sarfarazi, and P S Harper
J Med Genet 1986; 23: 2-10. doi:10.1136/jmg.23.1.2 [Abstract] [PDF] [Request Permissions]

Dubowitz syndrome.
R M Winter
J Med Genet 1986; 23: 11-13. doi:10.1136/jmg.23.1.11 [PDF] [Request Permissions]

Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster.
J M Old, C Heath, A Fitches, S L Thein, A J Jeffreys, M Petrou, B Modell, and D J Weatherall
J Med Genet 1986; 23: 14-18. doi:10.1136/jmg.23.1.14 [Abstract] [PDF] [Request Permissions]

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.
D Ogilvie, P Wordsworth, E Thompson, and B Sykes
J Med Genet 1986; 23: 19-22. doi:10.1136/jmg.23.1.19 [Abstract] [PDF] [Request Permissions]

X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.
J Halliday, C W Chow, D Wallace, and D M Danks
J Med Genet 1986; 23: 23-31. doi:10.1136/jmg.23.1.23 [Abstract] [PDF] [Request Permissions]

Autosomal recessive or sex linked recessive: a counselling dilemma.
I D Young, Z Nugent, and T Grimm
J Med Genet 1986; 23: 32-34. doi:10.1136/jmg.23.1.32 [Abstract] [PDF] [Request Permissions]

A computer programme to calculate risk in X linked disorders using multiple marker loci.
J F Clayton
J Med Genet 1986; 23: 35-39. doi:10.1136/jmg.23.1.35 [Abstract] [PDF] [Request Permissions]

A computer programme for estimation of genetic risk in X linked disorders, combining pedigree and DNA probe data with other conditional information.
M Sarfarazi and H Williams
J Med Genet 1986; 23: 40-45. doi:10.1136/jmg.23.1.40 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells.
R A Eady, D B Gunner, L D Carbone, F D Bricarelli, C M Gosden, and C H Rodeck
J Med Genet 1986; 23: 46-51. doi:10.1136/jmg.23.1.46 [Abstract] [PDF] [Request Permissions]

Early prenatal investigation of a pregnancy at risk of adenosine deaminase deficiency using chorionic villi.
D A Aitken, D H Gilmore, C A Frew, M E Ferguson-Smith, M J Carty, and W R Chatfield
J Med Genet 1986; 23: 52-54. doi:10.1136/jmg.23.1.52 [Abstract] [PDF] [Request Permissions]

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.
S M Huson, A L Meredith, M Sarfarazi, D J Shaw, D A Compston, and P S Harper
J Med Genet 1986; 23: 55-57. doi:10.1136/jmg.23.1.55 [Abstract] [PDF] [Request Permissions]

Genetic analysis of malformations causing perinatal mortality.
I D Young, A B Rickett, and M Clarke
J Med Genet 1986; 23: 58-63. doi:10.1136/jmg.23.1.58 [Abstract] [PDF] [Request Permissions]

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.
D Donnai, I D Young, W G Owen, S A Clark, P F Miller, and W F Knox
J Med Genet 1986; 23: 64-71. doi:10.1136/jmg.23.1.64 [Abstract] [PDF] [Request Permissions]

Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum.
F P Imray, A Hockey, W Relf, R G Ramsay, and C Kidson
J Med Genet 1986; 23: 72-78. doi:10.1136/jmg.23.1.72 [Abstract] [PDF] [Request Permissions]

A case of Fryns syndrome.
I D Young, K Simpson, and R M Winter
J Med Genet 1986; 23: 82-84. doi:10.1136/jmg.23.1.82 [Abstract] [PDF] [Request Permissions]

Umbilical cord hernia in a child with autosomal recessive chondrodysplasia punctata.
O Chandavasu and F Desposito
J Med Genet 1986; 23: 84-86. doi:10.1136/jmg.23.1.84 [Abstract] [PDF] [Request Permissions]

Trisomy 14 mosaicism in a 2 year old girl.
M B Petersen, L O Vejerslev, and B Beck
J Med Genet 1986; 23: 86-88. doi:10.1136/jmg.23.1.86 [Abstract] [PDF] [Request Permissions]

First trimester diagnosis from chorionic villi of a der(15),t(9;15)(q33;q14)mat identified by DA/DAPI staining.
J O Van Hemel, D F Majoor-Krakauer, M G Jahoda, and E S Sachs
J Med Genet 1986; 23: 89-90. doi:10.1136/jmg.23.1.89 [PDF] [Request Permissions]

A three way translocation in mother and daughter.
R J Gardner, N A Monk, G J Allen, and M I Parslow
J Med Genet 1986; 23: 90. doi:10.1136/jmg.23.1.90 [PDF] [Request Permissions]

Familial inv(1)(p36.3q12) associated with sterility.
A Barros, M C Tavares, M P Gomes, and M P Tavares
J Med Genet 1986; 23: 90-91. doi:10.1136/jmg.23.1.90-a [PDF] [Request Permissions]

Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25.
S A Al-Awadi, K K Naguib, T I Farag, A S Teebi, A Cuschieri, S A Al-Othman, and T S Sundareshan
J Med Genet 1986; 23: 91-92. doi:10.1136/jmg.23.1.91 [PDF] [Request Permissions]

Prune belly appearance in a Turner subject.
A Savanelli, L Orfeo, M Stabile, S Iannuzzi, U De Bellis, G Esposito, and V Ventruto
J Med Genet 1986; 23: 92-93. doi:10.1136/jmg.23.1.92 [PDF] [Request Permissions]

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	Editorial Peter S Harper J Med Genet 1986; 23: 1. doi:10.1136/jmg.23.1.1 [PDF] [Request Permissions]

	Abstracts of the annual scientific meeting of the Association of Clinical Cytogeneticists held at the University of Newcastle upon Tyne on 3 and 4 July 1985 J Med Genet 1986; 23: 79-81. doi:10.1136/jmg.23.1.79 [PDF] [Request Permissions]

	Chimeras in Developmental Biology S Povey J Med Genet 1986; 23: 94. doi:10.1136/jmg.23.1.94 [PDF] [Request Permissions]

	Mutation, Cancer and Malformation J E N Morten J Med Genet 1986; 23: 94-95. doi:10.1136/jmg.23.1.94-a [PDF] [Request Permissions]

	An Atlas of Characteristic Syndromes Peter S Harper J Med Genet 1986; 23: 95. doi:10.1136/jmg.23.1.95 [PDF] [Request Permissions]

	Molecular Genetics of Common Metabolic Disease Alan E H Emery J Med Genet 1986; 23: 95. doi:10.1136/jmg.23.1.95-a [PDF] [Request Permissions]

	Gene mapping and chromosome 19. D J Shaw, J D Brook, A L Meredith, H G Harley, M Sarfarazi, and P S Harper J Med Genet 1986; 23: 2-10. doi:10.1136/jmg.23.1.2 [Abstract] [PDF] [Request Permissions]

	Dubowitz syndrome. R M Winter J Med Genet 1986; 23: 11-13. doi:10.1136/jmg.23.1.11 [PDF] [Request Permissions]

	Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster. J M Old, C Heath, A Fitches, S L Thein, A J Jeffreys, M Petrou, B Modell, and D J Weatherall J Med Genet 1986; 23: 14-18. doi:10.1136/jmg.23.1.14 [Abstract] [PDF] [Request Permissions]

	Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. D Ogilvie, P Wordsworth, E Thompson, and B Sykes J Med Genet 1986; 23: 19-22. doi:10.1136/jmg.23.1.19 [Abstract] [PDF] [Request Permissions]

	X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. J Halliday, C W Chow, D Wallace, and D M Danks J Med Genet 1986; 23: 23-31. doi:10.1136/jmg.23.1.23 [Abstract] [PDF] [Request Permissions]

	Autosomal recessive or sex linked recessive: a counselling dilemma. I D Young, Z Nugent, and T Grimm J Med Genet 1986; 23: 32-34. doi:10.1136/jmg.23.1.32 [Abstract] [PDF] [Request Permissions]

	A computer programme to calculate risk in X linked disorders using multiple marker loci. J F Clayton J Med Genet 1986; 23: 35-39. doi:10.1136/jmg.23.1.35 [Abstract] [PDF] [Request Permissions]

	A computer programme for estimation of genetic risk in X linked disorders, combining pedigree and DNA probe data with other conditional information. M Sarfarazi and H Williams J Med Genet 1986; 23: 40-45. doi:10.1136/jmg.23.1.40 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells. R A Eady, D B Gunner, L D Carbone, F D Bricarelli, C M Gosden, and C H Rodeck J Med Genet 1986; 23: 46-51. doi:10.1136/jmg.23.1.46 [Abstract] [PDF] [Request Permissions]

	Early prenatal investigation of a pregnancy at risk of adenosine deaminase deficiency using chorionic villi. D A Aitken, D H Gilmore, C A Frew, M E Ferguson-Smith, M J Carty, and W R Chatfield J Med Genet 1986; 23: 52-54. doi:10.1136/jmg.23.1.52 [Abstract] [PDF] [Request Permissions]

	Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy. S M Huson, A L Meredith, M Sarfarazi, D J Shaw, D A Compston, and P S Harper J Med Genet 1986; 23: 55-57. doi:10.1136/jmg.23.1.55 [Abstract] [PDF] [Request Permissions]

	Genetic analysis of malformations causing perinatal mortality. I D Young, A B Rickett, and M Clarke J Med Genet 1986; 23: 58-63. doi:10.1136/jmg.23.1.58 [Abstract] [PDF] [Request Permissions]

	The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. D Donnai, I D Young, W G Owen, S A Clark, P F Miller, and W F Knox J Med Genet 1986; 23: 64-71. doi:10.1136/jmg.23.1.64 [Abstract] [PDF] [Request Permissions]

	Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum. F P Imray, A Hockey, W Relf, R G Ramsay, and C Kidson J Med Genet 1986; 23: 72-78. doi:10.1136/jmg.23.1.72 [Abstract] [PDF] [Request Permissions]

	A case of Fryns syndrome. I D Young, K Simpson, and R M Winter J Med Genet 1986; 23: 82-84. doi:10.1136/jmg.23.1.82 [Abstract] [PDF] [Request Permissions]

	Umbilical cord hernia in a child with autosomal recessive chondrodysplasia punctata. O Chandavasu and F Desposito J Med Genet 1986; 23: 84-86. doi:10.1136/jmg.23.1.84 [Abstract] [PDF] [Request Permissions]

	Trisomy 14 mosaicism in a 2 year old girl. M B Petersen, L O Vejerslev, and B Beck J Med Genet 1986; 23: 86-88. doi:10.1136/jmg.23.1.86 [Abstract] [PDF] [Request Permissions]

	First trimester diagnosis from chorionic villi of a der(15),t(9;15)(q33;q14)mat identified by DA/DAPI staining. J O Van Hemel, D F Majoor-Krakauer, M G Jahoda, and E S Sachs J Med Genet 1986; 23: 89-90. doi:10.1136/jmg.23.1.89 [PDF] [Request Permissions]

	A three way translocation in mother and daughter. R J Gardner, N A Monk, G J Allen, and M I Parslow J Med Genet 1986; 23: 90. doi:10.1136/jmg.23.1.90 [PDF] [Request Permissions]

	Familial inv(1)(p36.3q12) associated with sterility. A Barros, M C Tavares, M P Gomes, and M P Tavares J Med Genet 1986; 23: 90-91. doi:10.1136/jmg.23.1.90-a [PDF] [Request Permissions]

	Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25. S A Al-Awadi, K K Naguib, T I Farag, A S Teebi, A Cuschieri, S A Al-Othman, and T S Sundareshan J Med Genet 1986; 23: 91-92. doi:10.1136/jmg.23.1.91 [PDF] [Request Permissions]

	Prune belly appearance in a Turner subject. A Savanelli, L Orfeo, M Stabile, S Iannuzzi, U De Bellis, G Esposito, and V Ventruto J Med Genet 1986; 23: 92-93. doi:10.1136/jmg.23.1.92 [PDF] [Request Permissions]