J Med Genet -- Table of Contents (29 [12])

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December 1992 (Volume 29, Number 12). [Index by author]

		Obituaries Abstracts Letters to the Editor Research Article

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Obituaries

Dr Richard Herbert Lindenbaum, FRCP, 9.7.33-10.4.92
Oliver Sacks
J Med Genet 1992; 29: 925-926. doi:10.1136/jmg.29.12.925 [PDF] [Request Permissions]

Abstracts

Medical genetics: advances in brief: Maternal inheritance of atopic IgE responsiveness on chromosome 11q
William Reardon
J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927 [PDF] [Request Permissions]

Medical genetics: advances in brief: Integration of human ${alpha}$ -satellite DNA into simian chromosomes: centromere protein binding and disruption of normal chromosome segregation
N S Thakker
J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis
Andrew Norman
J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis
Andrew Wilkie
J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927-c [PDF] [Request Permissions]

Medical genetics: advances in brief
Judith Goodship
J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927-d [PDF] [Request Permissions]

Letters to the Editor

Reply
D G R Evans
J Med Genet 1992; 29: 928. doi:10.1136/jmg.29.12.928-a [PDF] [Request Permissions]

Research Article

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.
D G Evans, S M Huson, D Donnai, W Neary, V Blair, D Teare, V Newton, T Strachan, R Ramsden, and R Harris
J Med Genet 1992; 29: 841-846. doi:10.1136/jmg.29.12.841 [Abstract] [PDF] [Request Permissions]

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.
D G Evans, S M Huson, D Donnai, W Neary, V Blair, V Newton, T Strachan, and R Harris
J Med Genet 1992; 29: 847-852. doi:10.1136/jmg.29.12.847 [Abstract] [PDF] [Request Permissions]

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.
E J Meijers-Heijboer, L A Sandkuijl, H G Brunner, H J Smeets, A J Hoogeboom, W H Deelen, J O van Hemel, M R Nelen, D F Smeets, and M F Niermeijer
J Med Genet 1992; 29: 853-857. doi:10.1136/jmg.29.12.853 [Abstract] [PDF] [Request Permissions]

Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.
M A Crocq, R Mant, P Asherson, J Williams, Y Hode, A Mayerova, D Collier, L Lannfelt, P Sokoloff, and J C Schwartz
J Med Genet 1992; 29: 858-860. doi:10.1136/jmg.29.12.858 [Abstract] [PDF] [Request Permissions]

Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.
J R Sampson, L A Janssen, and L A Sandkuijl
J Med Genet 1992; 29: 861-866. doi:10.1136/jmg.29.12.861 [Abstract] [PDF] [Request Permissions]

Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.
L A Janssen, L A Sandkuijl, J R Sampson, and D J Halley
J Med Genet 1992; 29: 867-874. doi:10.1136/jmg.29.12.867 [Abstract] [PDF] [Request Permissions]

Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.
A Superti-Furga, M Raghunath, and P J Willems
J Med Genet 1992; 29: 875-878. doi:10.1136/jmg.29.12.875 [Abstract] [PDF] [Request Permissions]

Constitutional ring chromosomes and tumour suppressor genes.
N Tommerup and R Lothe
J Med Genet 1992; 29: 879-882. doi:10.1136/jmg.29.12.879 [Abstract] [PDF] [Request Permissions]

Severity of chest disease in cystic fibrosis patients in relation to their genotypes.
L N al-Jader, A L Meredith, H C Ryley, J P Cheadle, S Maguire, G Owen, M C Goodchild, and P S Harper
J Med Genet 1992; 29: 883-887. doi:10.1136/jmg.29.12.883 [Abstract] [PDF] [Request Permissions]

A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.
T Uemichi, J R Murrell, S Zeldenrust, and M D Benson
J Med Genet 1992; 29: 888-891. doi:10.1136/jmg.29.12.888 [Abstract] [PDF] [Request Permissions]

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.
L V Nicholson, K M Bushby, M A Johnson, J T den Dunnen, I B Ginjaar, and G J van Ommen
J Med Genet 1992; 29: 892-896. doi:10.1136/jmg.29.12.892 [Abstract] [PDF] [Request Permissions]

Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.
Y Hiraishi, S Kato, T Ishihara, and T Takano
J Med Genet 1992; 29: 897-901. doi:10.1136/jmg.29.12.897 [Abstract] [PDF] [Request Permissions]

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.
E R Maher, E Bentley, S J Payne, F Latif, F M Richards, M Chiano, S Hosoe, J R Yates, M Linehan, and D E Barton
J Med Genet 1992; 29: 902-905. doi:10.1136/jmg.29.12.902 [Abstract] [PDF] [Request Permissions]

Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.
M Jay, A C Bird, A N Moore, and B Jay
J Med Genet 1992; 29: 906-910. doi:10.1136/jmg.29.12.906 [Abstract] [PDF] [Request Permissions]

Causes of death in patients with Huntington's disease and in unaffected first degree relatives.
S A Sørensen and K Fenger
J Med Genet 1992; 29: 911-914. doi:10.1136/jmg.29.12.911 [Abstract] [PDF] [Request Permissions]

Predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium.
D Craufurd and A Tyler
J Med Genet 1992; 29: 915-918. doi:10.1136/jmg.29.12.915 [PDF] [Request Permissions]

Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.
J Tarleton, S Wong, and C Schwartz
J Med Genet 1992; 29: 919-920. doi:10.1136/jmg.29.12.919 [PDF] [Request Permissions]

Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
T Webb, J Clayton-Smith, X J Cheng, J H Knoll, M Lalande, M E Pembrey, and S Malcolm
J Med Genet 1992; 29: 921-924. doi:10.1136/jmg.29.12.921 [Abstract] [PDF] [Request Permissions]

Ovarian cancer family and prophylactic choices.
D M Eccles and R S Houlston
J Med Genet 1992; 29: 928. doi:10.1136/jmg.29.12.928 [PDF] [Request Permissions]

The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes.
R Hughes-Benzie, J Allanson, A Hunter, and T Cole
J Med Genet 1992; 29: 928. doi:10.1136/jmg.29.12.928-b [PDF] [Request Permissions]

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	Dr Richard Herbert Lindenbaum, FRCP, 9.7.33-10.4.92 Oliver Sacks J Med Genet 1992; 29: 925-926. doi:10.1136/jmg.29.12.925 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Maternal inheritance of atopic IgE responsiveness on chromosome 11q William Reardon J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Integration of human ${alpha}$ -satellite DNA into simian chromosomes: centromere protein binding and disruption of normal chromosome segregation N S Thakker J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis Andrew Norman J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis Andrew Wilkie J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927-c [PDF] [Request Permissions]

	Medical genetics: advances in brief Judith Goodship J Med Genet 1992; 29: 927. doi:10.1136/jmg.29.12.927-d [PDF] [Request Permissions]

	Reply D G R Evans J Med Genet 1992; 29: 928. doi:10.1136/jmg.29.12.928-a [PDF] [Request Permissions]

	A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. D G Evans, S M Huson, D Donnai, W Neary, V Blair, D Teare, V Newton, T Strachan, R Ramsden, and R Harris J Med Genet 1992; 29: 841-846. doi:10.1136/jmg.29.12.841 [Abstract] [PDF] [Request Permissions]

	A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. D G Evans, S M Huson, D Donnai, W Neary, V Blair, V Newton, T Strachan, and R Harris J Med Genet 1992; 29: 847-852. doi:10.1136/jmg.29.12.847 [Abstract] [PDF] [Request Permissions]

	Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. E J Meijers-Heijboer, L A Sandkuijl, H G Brunner, H J Smeets, A J Hoogeboom, W H Deelen, J O van Hemel, M R Nelen, D F Smeets, and M F Niermeijer J Med Genet 1992; 29: 853-857. doi:10.1136/jmg.29.12.853 [Abstract] [PDF] [Request Permissions]

	Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. M A Crocq, R Mant, P Asherson, J Williams, Y Hode, A Mayerova, D Collier, L Lannfelt, P Sokoloff, and J C Schwartz J Med Genet 1992; 29: 858-860. doi:10.1136/jmg.29.12.858 [Abstract] [PDF] [Request Permissions]

	Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group. J R Sampson, L A Janssen, and L A Sandkuijl J Med Genet 1992; 29: 861-866. doi:10.1136/jmg.29.12.861 [Abstract] [PDF] [Request Permissions]

	Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data. L A Janssen, L A Sandkuijl, J R Sampson, and D J Halley J Med Genet 1992; 29: 867-874. doi:10.1136/jmg.29.12.867 [Abstract] [PDF] [Request Permissions]

	Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. A Superti-Furga, M Raghunath, and P J Willems J Med Genet 1992; 29: 875-878. doi:10.1136/jmg.29.12.875 [Abstract] [PDF] [Request Permissions]

	Constitutional ring chromosomes and tumour suppressor genes. N Tommerup and R Lothe J Med Genet 1992; 29: 879-882. doi:10.1136/jmg.29.12.879 [Abstract] [PDF] [Request Permissions]

	Severity of chest disease in cystic fibrosis patients in relation to their genotypes. L N al-Jader, A L Meredith, H C Ryley, J P Cheadle, S Maguire, G Owen, M C Goodchild, and P S Harper J Med Genet 1992; 29: 883-887. doi:10.1136/jmg.29.12.883 [Abstract] [PDF] [Request Permissions]

	A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. T Uemichi, J R Murrell, S Zeldenrust, and M D Benson J Med Genet 1992; 29: 888-891. doi:10.1136/jmg.29.12.888 [Abstract] [PDF] [Request Permissions]

	Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame. L V Nicholson, K M Bushby, M A Johnson, J T den Dunnen, I B Ginjaar, and G J van Ommen J Med Genet 1992; 29: 892-896. doi:10.1136/jmg.29.12.892 [Abstract] [PDF] [Request Permissions]

	Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications. Y Hiraishi, S Kato, T Ishihara, and T Takano J Med Genet 1992; 29: 897-901. doi:10.1136/jmg.29.12.897 [Abstract] [PDF] [Request Permissions]

	Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. E R Maher, E Bentley, S J Payne, F Latif, F M Richards, M Chiano, S Hosoe, J R Yates, M Linehan, and D E Barton J Med Genet 1992; 29: 902-905. doi:10.1136/jmg.29.12.902 [Abstract] [PDF] [Request Permissions]

	Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. M Jay, A C Bird, A N Moore, and B Jay J Med Genet 1992; 29: 906-910. doi:10.1136/jmg.29.12.906 [Abstract] [PDF] [Request Permissions]

	Causes of death in patients with Huntington's disease and in unaffected first degree relatives. S A Sørensen and K Fenger J Med Genet 1992; 29: 911-914. doi:10.1136/jmg.29.12.911 [Abstract] [PDF] [Request Permissions]

	Predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium. D Craufurd and A Tyler J Med Genet 1992; 29: 915-918. doi:10.1136/jmg.29.12.915 [PDF] [Request Permissions]

	Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family. J Tarleton, S Wong, and C Schwartz J Med Genet 1992; 29: 919-920. doi:10.1136/jmg.29.12.919 [PDF] [Request Permissions]

	Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. T Webb, J Clayton-Smith, X J Cheng, J H Knoll, M Lalande, M E Pembrey, and S Malcolm J Med Genet 1992; 29: 921-924. doi:10.1136/jmg.29.12.921 [Abstract] [PDF] [Request Permissions]

	Ovarian cancer family and prophylactic choices. D M Eccles and R S Houlston J Med Genet 1992; 29: 928. doi:10.1136/jmg.29.12.928 [PDF] [Request Permissions]

	The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. R Hughes-Benzie, J Allanson, A Hunter, and T Cole J Med Genet 1992; 29: 928. doi:10.1136/jmg.29.12.928-b [PDF] [Request Permissions]