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September 1998 (Volume 35, Number 9). [Index by author]

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Abstracts

Medical genetics: advances in brief: Molecular biology and genetics of allergy and asthma
Sarah Slaney
J Med Genet 1998; 35: 787. doi:10.1136/jmg.35.9.787 [PDF] [Request Permissions]

Medical genetics: advances in brief: Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counselling
Frances Flinter
J Med Genet 1998; 35: 787. doi:10.1136/jmg.35.9.787-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
David O Robinson
J Med Genet 1998; 35: 787. doi:10.1136/jmg.35.9.787-b [PDF] [Request Permissions]

Book Reviews

Gene Transfer in the Cardiovascular System: Experimental Approaches and Therapeutic Implications
Keith M Channon
J Med Genet 1998; 35: 791-792. doi:10.1136/jmg.35.9.791-a [PDF] [Request Permissions]

Neuromuscular Disorders: Clinical and Molecular Genetics
Katherine Bushby
J Med Genet 1998; 35: 792. doi:10.1136/jmg.35.9.792 [PDF] [Request Permissions]

Emery's Elements of Medical Genetics
Evan Reid
J Med Genet 1998; 35: 792. doi:10.1136/jmg.35.9.792-a [PDF] [Request Permissions]

Research Article

Medical complications of achondroplasia: a multicentre patient review.
A G Hunter, A Bankier, J G Rogers, D Sillence, and C I Scott, Jr
J Med Genet 1998; 35: 705-712. doi:10.1136/jmg.35.9.705 [Abstract] [PDF] [Request Permissions]

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.
M B Delatycki, D Paris, R J Gardner, K Forshaw, G A Nicholson, N Nassif, R Williamson, and S M Forrest
J Med Genet 1998; 35: 713-716. doi:10.1136/jmg.35.9.713 [Abstract] [PDF] [Request Permissions]

Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.
M F Broom, C Zhou, J E Broom, K J Barwell, R D Jolly, and D F Hill
J Med Genet 1998; 35: 717-721. doi:10.1136/jmg.35.9.717 [Abstract] [PDF] [Request Permissions]

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.
S W Horsley, S J Knight, J Nixon, S Huson, M Fitchett, R A Boone, D Hilton-Jones, J Flint, and L Kearney
J Med Genet 1998; 35: 722-726. doi:10.1136/jmg.35.9.722 [Abstract] [PDF] [Request Permissions]

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.
E Margarit, A Soler, A Carrió, R Oliva, D Costa, T Vendrell, J Rosell, and F Ballesta
J Med Genet 1998; 35: 727-730. doi:10.1136/jmg.35.9.727 [Abstract] [PDF] [Request Permissions]

Family history of breast cancer: what do women understand and recall about their genetic risk?
M Watson, V Duvivier, M Wade Walsh, S Ashley, J Davidson, M Papaikonomou, V Murday, N Sacks, and R Eeles
J Med Genet 1998; 35: 731-738. doi:10.1136/jmg.35.9.731 [Abstract] [PDF] [Request Permissions]

Men in breast cancer families: a preliminary qualitative study of awareness and experience.
M F McAllister, D G Evans, W Ormiston, and P Daly
J Med Genet 1998; 35: 739-744. doi:10.1136/jmg.35.9.739 [Abstract] [PDF] [Request Permissions]

Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup.
A C DudokdeWit, A Tibben, H J Duivenvoorden, M F Niermeijer, and J Passchier
J Med Genet 1998; 35: 745-754. doi:10.1136/jmg.35.9.745 [Abstract] [PDF] [Request Permissions]

Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.
A Mégarbané, K Kharrat, and G Kreichati
J Med Genet 1998; 35: 755-758. doi:10.1136/jmg.35.9.755 [Abstract] [PDF] [Request Permissions]

Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?
A S Teebi, S Miller, H Ostrer, P Eydoux, C Colomb-Brockmann, K Oudjhane, and G Watters
J Med Genet 1998; 35: 759-762. doi:10.1136/jmg.35.9.759 [Abstract] [PDF] [Request Permissions]

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
N Flanagan, S A Boyadjiev, J Harper, L Kyne, M Earley, R Watson, E W Jabs, and M T Geraghty
J Med Genet 1998; 35: 763-766. doi:10.1136/jmg.35.9.763 [Abstract] [PDF] [Request Permissions]

Baller-Gerold syndrome associated with congenital portal venous malformation.
R Savarirayan, P Tomlinson, and E Thompson
J Med Genet 1998; 35: 767-769. doi:10.1136/jmg.35.9.767 [Abstract] [PDF] [Request Permissions]

Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.
A E Hughes, A J Lotery, and G Silvestri
J Med Genet 1998; 35: 770-772. doi:10.1136/jmg.35.9.770 [Abstract] [PDF] [Request Permissions]

Further refinement of the Usher 2A locus at 1q41.
D A Bessant, A M Payne, C Plant, A C Bird, and S S Bhattacharya
J Med Genet 1998; 35: 773-774. doi:10.1136/jmg.35.9.773 [Abstract] [PDF] [Request Permissions]

Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
A Chabás, L Gort, M Montfort, F Castelló, M C Domínguez, D Grinberg, and L Vilageliu
J Med Genet 1998; 35: 775-777. doi:10.1136/jmg.35.9.775 [Abstract] [PDF] [Request Permissions]

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
R Tupler, L Barbierato, M Memmi, C A Sewry, D De Grandis, P Maraschio, L Tiepolo, and A Ferlini
J Med Genet 1998; 35: 778-783. doi:10.1136/jmg.35.9.778 [Abstract] [PDF] [Request Permissions]

Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.
T Eggermann, K Eggermann, S Mergenthaler, R Kuner, P Kaiser, M B Ranke, and H A Wollmann
J Med Genet 1998; 35: 784-786. doi:10.1136/jmg.35.9.784 [Abstract] [PDF] [Request Permissions]

A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21.
C F Inglehearn, E E Tarttelin, T J Keen, S S Bhattacharya, A T Moore, R Taylor, and A C Bird
J Med Genet 1998; 35: 788-789. doi:10.1136/jmg.35.9.788 [PDF] [Request Permissions]

Frequency of inherited deletions of 22q11.
P W Thompson and S J Davies
J Med Genet 1998; 35: 789. doi:10.1136/jmg.35.9.789 [PDF] [Request Permissions]

The annual incidence of DiGeorge/velocardiofacial syndrome.
K Devriendt, J P Fryns, G Mortier, M N van Thienen, and K Keymolen
J Med Genet 1998; 35: 789-790. doi:10.1136/jmg.35.9.789-a [PDF] [Request Permissions]

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.
P B Munroe, N D Greene, K Y Leung, S E Mole, R M Gardiner, H M Mitchison, J B Stephenson, and Y J Crow
J Med Genet 1998; 35: 790. doi:10.1136/jmg.35.9.790 [PDF] [Request Permissions]

PTEN and prostate cancer.
E A Facher and J C Law
J Med Genet 1998; 35: 790. doi:10.1136/jmg.35.9.790-a [PDF] [Request Permissions]

Instability in the normal CTG repeat range at the myotonic dystrophy locus.
A Meiner, B Thamm, S Strenge, and U Froster
J Med Genet 1998; 35: 791. doi:10.1136/jmg.35.9.791 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Molecular biology and genetics of allergy and asthma Sarah Slaney J Med Genet 1998; 35: 787. doi:10.1136/jmg.35.9.787 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counselling Frances Flinter J Med Genet 1998; 35: 787. doi:10.1136/jmg.35.9.787-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy David O Robinson J Med Genet 1998; 35: 787. doi:10.1136/jmg.35.9.787-b [PDF] [Request Permissions]

	Gene Transfer in the Cardiovascular System: Experimental Approaches and Therapeutic Implications Keith M Channon J Med Genet 1998; 35: 791-792. doi:10.1136/jmg.35.9.791-a [PDF] [Request Permissions]

	Neuromuscular Disorders: Clinical and Molecular Genetics Katherine Bushby J Med Genet 1998; 35: 792. doi:10.1136/jmg.35.9.792 [PDF] [Request Permissions]

	Emery's Elements of Medical Genetics Evan Reid J Med Genet 1998; 35: 792. doi:10.1136/jmg.35.9.792-a [PDF] [Request Permissions]

	Medical complications of achondroplasia: a multicentre patient review. A G Hunter, A Bankier, J G Rogers, D Sillence, and C I Scott, Jr J Med Genet 1998; 35: 705-712. doi:10.1136/jmg.35.9.705 [Abstract] [PDF] [Request Permissions]

	Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. M B Delatycki, D Paris, R J Gardner, K Forshaw, G A Nicholson, N Nassif, R Williamson, and S M Forrest J Med Genet 1998; 35: 713-716. doi:10.1136/jmg.35.9.713 [Abstract] [PDF] [Request Permissions]

	Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6. M F Broom, C Zhou, J E Broom, K J Barwell, R D Jolly, and D F Hill J Med Genet 1998; 35: 717-721. doi:10.1136/jmg.35.9.717 [Abstract] [PDF] [Request Permissions]

	Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. S W Horsley, S J Knight, J Nixon, S Huson, M Fitchett, R A Boone, D Hilton-Jones, J Flint, and L Kearney J Med Genet 1998; 35: 722-726. doi:10.1136/jmg.35.9.722 [Abstract] [PDF] [Request Permissions]

	Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis. E Margarit, A Soler, A Carrió, R Oliva, D Costa, T Vendrell, J Rosell, and F Ballesta J Med Genet 1998; 35: 727-730. doi:10.1136/jmg.35.9.727 [Abstract] [PDF] [Request Permissions]

	Family history of breast cancer: what do women understand and recall about their genetic risk? M Watson, V Duvivier, M Wade Walsh, S Ashley, J Davidson, M Papaikonomou, V Murday, N Sacks, and R Eeles J Med Genet 1998; 35: 731-738. doi:10.1136/jmg.35.9.731 [Abstract] [PDF] [Request Permissions]

	Men in breast cancer families: a preliminary qualitative study of awareness and experience. M F McAllister, D G Evans, W Ormiston, and P Daly J Med Genet 1998; 35: 739-744. doi:10.1136/jmg.35.9.739 [Abstract] [PDF] [Request Permissions]

	Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. A C DudokdeWit, A Tibben, H J Duivenvoorden, M F Niermeijer, and J Passchier J Med Genet 1998; 35: 745-754. doi:10.1136/jmg.35.9.745 [Abstract] [PDF] [Request Permissions]

	Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome. A Mégarbané, K Kharrat, and G Kreichati J Med Genet 1998; 35: 755-758. doi:10.1136/jmg.35.9.755 [Abstract] [PDF] [Request Permissions]

	Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome? A S Teebi, S Miller, H Ostrer, P Eydoux, C Colomb-Brockmann, K Oudjhane, and G Watters J Med Genet 1998; 35: 759-762. doi:10.1136/jmg.35.9.759 [Abstract] [PDF] [Request Permissions]

	Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. N Flanagan, S A Boyadjiev, J Harper, L Kyne, M Earley, R Watson, E W Jabs, and M T Geraghty J Med Genet 1998; 35: 763-766. doi:10.1136/jmg.35.9.763 [Abstract] [PDF] [Request Permissions]

	Baller-Gerold syndrome associated with congenital portal venous malformation. R Savarirayan, P Tomlinson, and E Thompson J Med Genet 1998; 35: 767-769. doi:10.1136/jmg.35.9.767 [Abstract] [PDF] [Request Permissions]

	Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p. A E Hughes, A J Lotery, and G Silvestri J Med Genet 1998; 35: 770-772. doi:10.1136/jmg.35.9.770 [Abstract] [PDF] [Request Permissions]

	Further refinement of the Usher 2A locus at 1q41. D A Bessant, A M Payne, C Plant, A C Bird, and S S Bhattacharya J Med Genet 1998; 35: 773-774. doi:10.1136/jmg.35.9.773 [Abstract] [PDF] [Request Permissions]

	Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis. A Chabás, L Gort, M Montfort, F Castelló, M C Domínguez, D Grinberg, and L Vilageliu J Med Genet 1998; 35: 775-777. doi:10.1136/jmg.35.9.775 [Abstract] [PDF] [Request Permissions]

	Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. R Tupler, L Barbierato, M Memmi, C A Sewry, D De Grandis, P Maraschio, L Tiepolo, and A Ferlini J Med Genet 1998; 35: 778-783. doi:10.1136/jmg.35.9.778 [Abstract] [PDF] [Request Permissions]

	Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. T Eggermann, K Eggermann, S Mergenthaler, R Kuner, P Kaiser, M B Ranke, and H A Wollmann J Med Genet 1998; 35: 784-786. doi:10.1136/jmg.35.9.784 [Abstract] [PDF] [Request Permissions]

	A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21. C F Inglehearn, E E Tarttelin, T J Keen, S S Bhattacharya, A T Moore, R Taylor, and A C Bird J Med Genet 1998; 35: 788-789. doi:10.1136/jmg.35.9.788 [PDF] [Request Permissions]

	Frequency of inherited deletions of 22q11. P W Thompson and S J Davies J Med Genet 1998; 35: 789. doi:10.1136/jmg.35.9.789 [PDF] [Request Permissions]

	The annual incidence of DiGeorge/velocardiofacial syndrome. K Devriendt, J P Fryns, G Mortier, M N van Thienen, and K Keymolen J Med Genet 1998; 35: 789-790. doi:10.1136/jmg.35.9.789-a [PDF] [Request Permissions]

	Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. P B Munroe, N D Greene, K Y Leung, S E Mole, R M Gardiner, H M Mitchison, J B Stephenson, and Y J Crow J Med Genet 1998; 35: 790. doi:10.1136/jmg.35.9.790 [PDF] [Request Permissions]

	PTEN and prostate cancer. E A Facher and J C Law J Med Genet 1998; 35: 790. doi:10.1136/jmg.35.9.790-a [PDF] [Request Permissions]

	Instability in the normal CTG repeat range at the myotonic dystrophy locus. A Meiner, B Thamm, S Strenge, and U Froster J Med Genet 1998; 35: 791. doi:10.1136/jmg.35.9.791 [PDF] [Request Permissions]