J Med Genet -- Table of Contents (25 [11])

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November 1988 (Volume 25, Number 11). [Index by author]

		Book Reviews Conference Report Research Article

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Book Reviews

Human Gene Mapping 9
Peter S Harper
J Med Genet 1988; 25: 788. doi:10.1136/jmg.25.11.788 [PDF] [Request Permissions]

Fetal and Neonatal Pathology
Dian Donnai
J Med Genet 1988; 25: 788. doi:10.1136/jmg.25.11.788-a [PDF] [Request Permissions]

Molecular Biology of Homo Sapiens
Andrew P Read
J Med Genet 1988; 25: 788-789. doi:10.1136/jmg.25.11.788-b [PDF] [Request Permissions]

Mammalian Development: A Practical Approach
P N Goodfellow
J Med Genet 1988; 25: 789. doi:10.1136/jmg.25.11.789 [PDF] [Request Permissions]

The Molecular Basis of Blood Diseases
Ian Peake
J Med Genet 1988; 25: 789-790. doi:10.1136/jmg.25.11.789-a [PDF] [Request Permissions]

Malay Archipelago
Peter S Harper
J Med Genet 1988; 25: 790. doi:10.1136/jmg.25.11.790 [PDF] [Request Permissions]

Biological Activities of Alpha₁-fetoprotein
D J H Brock
J Med Genet 1988; 25: 790-791. doi:10.1136/jmg.25.11.790-a [PDF] [Request Permissions]

Recent Advances in Inborn Errors of Metabolism
J V Leonard
J Med Genet 1988; 25: 791. doi:10.1136/jmg.25.11.791 [PDF] [Request Permissions]

Genetics and Epithelial Cell Dysfunction in Cystic Fibrosis
D J H Brock
J Med Genet 1988; 25: 791. doi:10.1136/jmg.25.11.791-a [PDF] [Request Permissions]

The Genetics of Renal Tract Disorders
Alan E H Emery
J Med Genet 1988; 25: 792. doi:10.1136/jmg.25.11.792 [PDF] [Request Permissions]

Conference Report

The European School of Medical Genetics, Sestri Levante (Genoa), 6 to 12 April 1988
P W Lunt
J Med Genet 1988; 25: 785-786. doi:10.1136/jmg.25.11.785 [PDF] [Request Permissions]

Research Article

Human chromosome 8.
S Wood
J Med Genet 1988; 25: 721-731. doi:10.1136/jmg.25.11.721 [Abstract] [PDF] [Request Permissions]

Chromosome subband 17p11.2 deletion: a minute deletion syndrome.
D Lockwood, F Hecht, C Dowman, B K Hecht, T H Rizkallah, T M Goodwin, and J Allanson
J Med Genet 1988; 25: 732-737. doi:10.1136/jmg.25.11.732 [Abstract] [PDF] [Request Permissions]

A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.
I K Jalili and N J Smith
J Med Genet 1988; 25: 738-740. doi:10.1136/jmg.25.11.738 [Abstract] [PDF] [Request Permissions]

Eleven new cases of del(9p) and features from 80 cases.
J L Huret, C Leonard, B Forestier, M O Rethoré, and J Lejeune
J Med Genet 1988; 25: 741-749. doi:10.1136/jmg.25.11.741 [Abstract] [PDF] [Request Permissions]

Autosomal dominant isolated ('uncomplicated') microcephaly.
P Merlob, D Steier, and S H Reisner
J Med Genet 1988; 25: 750-753. doi:10.1136/jmg.25.11.750 [Abstract] [PDF] [Request Permissions]

Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.
J L Tolmie, D E Wilcox, R McWilliam, A Assindi, and J B Stephenson
J Med Genet 1988; 25: 754-757. doi:10.1136/jmg.25.11.754 [Abstract] [PDF] [Request Permissions]

Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?
L I al-Gazali, D Donnai, and R F Mueller
J Med Genet 1988; 25: 758-761. doi:10.1136/jmg.25.11.758 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations.
M C Rosatelli, T Tuveri, M T Scalas, A Di Tucci, G B Leoni, M Furbetta, G Monni, and A Cao
J Med Genet 1988; 25: 762-765. doi:10.1136/jmg.25.11.762 [Abstract] [PDF] [Request Permissions]

Beta thalassaemia mutations in Turkish Cypriots.
A Sozuoz, A Berkalp, A Figus, A Loi, M Pirastu, and A Cao
J Med Genet 1988; 25: 766-768. doi:10.1136/jmg.25.11.766 [Abstract] [PDF] [Request Permissions]

Counselling for prenatal diagnosis of sickle cell disease and beta thalassaemia major: a four year experience.
E N Anionwu, N Patel, G Kanji, H Renges, and M Brozovic
J Med Genet 1988; 25: 769-772. doi:10.1136/jmg.25.11.769 [Abstract] [PDF] [Request Permissions]

The oculocerebrocutaneous (Delleman) syndrome.
L I al-Gazali, D Donnai, S A Berry, B Say, and R F Mueller
J Med Genet 1988; 25: 773-778. doi:10.1136/jmg.25.11.773 [PDF] [Request Permissions]

Carrier detection through the use of abnormal deletion junction fragments in a case of haemophilia B involving complete deletion of the factor IX gene.
R J Matthews, I R Peake, A L Bloom, and D S Anson
J Med Genet 1988; 25: 779-780. doi:10.1136/jmg.25.11.779 [PDF] [Request Permissions]

Long arm deletion of chromosome 22.
G Kirshenbaum, M Chmura, and D P Rhone
J Med Genet 1988; 25: 780. doi:10.1136/jmg.25.11.780 [PDF] [Request Permissions]

A new variant of chromosome 3 with unusual staining properties.
V Petrovic
J Med Genet 1988; 25: 781-782. doi:10.1136/jmg.25.11.781 [PDF] [Request Permissions]

Pubertal development in partial trisomy 14q.
A Smith, L S Ong, and R G Beran
J Med Genet 1988; 25: 782-783. doi:10.1136/jmg.25.11.782 [PDF] [Request Permissions]

Familial transmission of autosomal whole arm translocation.
J P Fryns, A Kleczkowska, and H Van den Berghe
J Med Genet 1988; 25: 783-784. doi:10.1136/jmg.25.11.783 [PDF] [Request Permissions]

Reserpine is not a human teratogen.
A Czeizel
J Med Genet 1988; 25: 787. doi:10.1136/jmg.25.11.787 [PDF] [Request Permissions]

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	Human Gene Mapping 9 Peter S Harper J Med Genet 1988; 25: 788. doi:10.1136/jmg.25.11.788 [PDF] [Request Permissions]

	Fetal and Neonatal Pathology Dian Donnai J Med Genet 1988; 25: 788. doi:10.1136/jmg.25.11.788-a [PDF] [Request Permissions]

	Molecular Biology of Homo Sapiens Andrew P Read J Med Genet 1988; 25: 788-789. doi:10.1136/jmg.25.11.788-b [PDF] [Request Permissions]

	Mammalian Development: A Practical Approach P N Goodfellow J Med Genet 1988; 25: 789. doi:10.1136/jmg.25.11.789 [PDF] [Request Permissions]

	The Molecular Basis of Blood Diseases Ian Peake J Med Genet 1988; 25: 789-790. doi:10.1136/jmg.25.11.789-a [PDF] [Request Permissions]

	Malay Archipelago Peter S Harper J Med Genet 1988; 25: 790. doi:10.1136/jmg.25.11.790 [PDF] [Request Permissions]

	Biological Activities of Alpha₁-fetoprotein D J H Brock J Med Genet 1988; 25: 790-791. doi:10.1136/jmg.25.11.790-a [PDF] [Request Permissions]

	Recent Advances in Inborn Errors of Metabolism J V Leonard J Med Genet 1988; 25: 791. doi:10.1136/jmg.25.11.791 [PDF] [Request Permissions]

	Genetics and Epithelial Cell Dysfunction in Cystic Fibrosis D J H Brock J Med Genet 1988; 25: 791. doi:10.1136/jmg.25.11.791-a [PDF] [Request Permissions]

	The Genetics of Renal Tract Disorders Alan E H Emery J Med Genet 1988; 25: 792. doi:10.1136/jmg.25.11.792 [PDF] [Request Permissions]

	The European School of Medical Genetics, Sestri Levante (Genoa), 6 to 12 April 1988 P W Lunt J Med Genet 1988; 25: 785-786. doi:10.1136/jmg.25.11.785 [PDF] [Request Permissions]

	Human chromosome 8. S Wood J Med Genet 1988; 25: 721-731. doi:10.1136/jmg.25.11.721 [Abstract] [PDF] [Request Permissions]

	Chromosome subband 17p11.2 deletion: a minute deletion syndrome. D Lockwood, F Hecht, C Dowman, B K Hecht, T H Rizkallah, T M Goodwin, and J Allanson J Med Genet 1988; 25: 732-737. doi:10.1136/jmg.25.11.732 [Abstract] [PDF] [Request Permissions]

	A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. I K Jalili and N J Smith J Med Genet 1988; 25: 738-740. doi:10.1136/jmg.25.11.738 [Abstract] [PDF] [Request Permissions]

	Eleven new cases of del(9p) and features from 80 cases. J L Huret, C Leonard, B Forestier, M O Rethoré, and J Lejeune J Med Genet 1988; 25: 741-749. doi:10.1136/jmg.25.11.741 [Abstract] [PDF] [Request Permissions]

	Autosomal dominant isolated ('uncomplicated') microcephaly. P Merlob, D Steier, and S H Reisner J Med Genet 1988; 25: 750-753. doi:10.1136/jmg.25.11.750 [Abstract] [PDF] [Request Permissions]

	Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait. J L Tolmie, D E Wilcox, R McWilliam, A Assindi, and J B Stephenson J Med Genet 1988; 25: 754-757. doi:10.1136/jmg.25.11.754 [Abstract] [PDF] [Request Permissions]

	Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? L I al-Gazali, D Donnai, and R F Mueller J Med Genet 1988; 25: 758-761. doi:10.1136/jmg.25.11.758 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations. M C Rosatelli, T Tuveri, M T Scalas, A Di Tucci, G B Leoni, M Furbetta, G Monni, and A Cao J Med Genet 1988; 25: 762-765. doi:10.1136/jmg.25.11.762 [Abstract] [PDF] [Request Permissions]

	Beta thalassaemia mutations in Turkish Cypriots. A Sozuoz, A Berkalp, A Figus, A Loi, M Pirastu, and A Cao J Med Genet 1988; 25: 766-768. doi:10.1136/jmg.25.11.766 [Abstract] [PDF] [Request Permissions]

	Counselling for prenatal diagnosis of sickle cell disease and beta thalassaemia major: a four year experience. E N Anionwu, N Patel, G Kanji, H Renges, and M Brozovic J Med Genet 1988; 25: 769-772. doi:10.1136/jmg.25.11.769 [Abstract] [PDF] [Request Permissions]

	The oculocerebrocutaneous (Delleman) syndrome. L I al-Gazali, D Donnai, S A Berry, B Say, and R F Mueller J Med Genet 1988; 25: 773-778. doi:10.1136/jmg.25.11.773 [PDF] [Request Permissions]

	Carrier detection through the use of abnormal deletion junction fragments in a case of haemophilia B involving complete deletion of the factor IX gene. R J Matthews, I R Peake, A L Bloom, and D S Anson J Med Genet 1988; 25: 779-780. doi:10.1136/jmg.25.11.779 [PDF] [Request Permissions]

	Long arm deletion of chromosome 22. G Kirshenbaum, M Chmura, and D P Rhone J Med Genet 1988; 25: 780. doi:10.1136/jmg.25.11.780 [PDF] [Request Permissions]

	A new variant of chromosome 3 with unusual staining properties. V Petrovic J Med Genet 1988; 25: 781-782. doi:10.1136/jmg.25.11.781 [PDF] [Request Permissions]

	Pubertal development in partial trisomy 14q. A Smith, L S Ong, and R G Beran J Med Genet 1988; 25: 782-783. doi:10.1136/jmg.25.11.782 [PDF] [Request Permissions]

	Familial transmission of autosomal whole arm translocation. J P Fryns, A Kleczkowska, and H Van den Berghe J Med Genet 1988; 25: 783-784. doi:10.1136/jmg.25.11.783 [PDF] [Request Permissions]

	Reserpine is not a human teratogen. A Czeizel J Med Genet 1988; 25: 787. doi:10.1136/jmg.25.11.787 [PDF] [Request Permissions]