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September 1992 (Volume 29, Number 9). [Index by author]

		Abstracts Book Reviews Medical Genetics: Advances in Brief Research Article

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Abstracts

Medical genetics: advances in brief: Cloning of cDNAs for Fanconi's anaemia by functional complementation
Andrew Wilkie
J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678 [PDF] [Request Permissions]

Medical genetics: advances in brief: Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion
Judith Goodship
J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Abnormal regulation of mammalian p21^ras contributes to malignant tumour growth in von Recklinghausen (type 1) neurofibromatosis
N S Thakker
J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR
D O Robinson
J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678-d [PDF] [Request Permissions]

Book Reviews

Analysis of Human Genetic Linkage
Andrew P Read
J Med Genet 1992; 29: 680. doi:10.1136/jmg.29.9.680 [PDF] [Request Permissions]

Practical Genetics
J M Connor
J Med Genet 1992; 29: 680. doi:10.1136/jmg.29.9.680-a [PDF] [Request Permissions]

Principles of Genetics
J M Connor
J Med Genet 1992; 29: 680. doi:10.1136/jmg.29.9.680-b [PDF] [Request Permissions]

Medical Genetics: Advances in Brief

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
W Reardon
J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678-b [PDF] [Request Permissions]

Research Article

National haemophilia B molecular genetic register.
R Harris
J Med Genet 1992; 29: 601. doi:10.1136/jmg.29.9.601 [PDF] [Request Permissions]

A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model.
F Giannelli, S Saad, A J Montandon, D R Bentley, and P M Green
J Med Genet 1992; 29: 602-607. doi:10.1136/jmg.29.9.602 [PDF] [Request Permissions]

X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.
A Harris, J Collins, D Vetrie, C Cole, and M Bobrow
J Med Genet 1992; 29: 608-614. doi:10.1136/jmg.29.9.608 [Abstract] [PDF] [Request Permissions]

Phenotype-genotype correlations in X linked retinitis pigmentosa.
J Kaplan, A Pelet, C Martin, O Delrieu, S Aymé, D Bonneau, M L Briard, A Hanauer, L Larget-Piet, and P Lefrançois
J Med Genet 1992; 29: 615-623. doi:10.1136/jmg.29.9.615 [Abstract] [PDF] [Request Permissions]

Chromosomal localisation of a pseudoautosomal growth gene(s).
T Ogata, C Petit, G Rappold, N Matsuo, T Matsumoto, and P Goodfellow
J Med Genet 1992; 29: 624-628. doi:10.1136/jmg.29.9.624 [Abstract] [PDF] [Request Permissions]

Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.
G N Wilson, C S Richards, K Katz, and G S Brookshire
J Med Genet 1992; 29: 629-634. doi:10.1136/jmg.29.9.629 [Abstract] [PDF] [Request Permissions]

The acrocallosal syndrome and Greig syndrome are not allelic disorders.
L A Brueton, K A Chotai, L van Herwerden, A Schinzel, and R M Winter
J Med Genet 1992; 29: 635-637. doi:10.1136/jmg.29.9.635 [Abstract] [PDF] [Request Permissions]

Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16.
P M Pignatelli, S E Pound, A D Carothers, A M Macnicol, P L Allan, M L Watson, and A F Wright
J Med Genet 1992; 29: 638-641. doi:10.1136/jmg.29.9.638 [Abstract] [PDF] [Request Permissions]

Mutation analysis of 184 cystic fibrosis families in Wales.
J Cheadle, J Myring, L al-Jader, and L Meredith
J Med Genet 1992; 29: 642-646. doi:10.1136/jmg.29.9.642 [Abstract] [PDF] [Request Permissions]

Identification of a new DMD gene deletion by ectopic transcript analysis.
F Rininsland, A Hahn, S Niemann-Seyde, R Slomski, F Hanefeld, and J Reiss
J Med Genet 1992; 29: 647-651. doi:10.1136/jmg.29.9.647 [Abstract] [PDF] [Request Permissions]

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.
O Mäkitie
J Med Genet 1992; 29: 652-655. doi:10.1136/jmg.29.9.652 [Abstract] [PDF] [Request Permissions]

Screening for phenylketonuria in a totalitarian state.
L Kalaydjieva and I Kremensky
J Med Genet 1992; 29: 656-658. doi:10.1136/jmg.29.9.656 [Abstract] [PDF] [Request Permissions]

Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.
P D Turnpenny, J C Dean, P Duffty, J A Reid, and P Carter
J Med Genet 1992; 29: 659-662. doi:10.1136/jmg.29.9.659 [Abstract] [PDF] [Request Permissions]

X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?
D Vetrie, F Flinter, M Bobrow, and A Harris
J Med Genet 1992; 29: 663-666. doi:10.1136/jmg.29.9.663 [Abstract] [PDF] [Request Permissions]

Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family.
C Bell, C A Converse, M F Collins, L Esakowitz, K F Kelly, and N E Haites
J Med Genet 1992; 29: 667-668. doi:10.1136/jmg.29.9.667 [PDF] [Request Permissions]

New dysmorphic features in Rubinstein-Taybi syndrome.
D Kanjilal, M A Basir, R S Verma, B K Rajegowda, R Lala, and A Nagaraj
J Med Genet 1992; 29: 669-670. doi:10.1136/jmg.29.9.669 [Abstract] [PDF] [Request Permissions]

18p- syndrome and hypopituitarism.
H G Artman, C A Morris, and A D Stock
J Med Genet 1992; 29: 671-672. doi:10.1136/jmg.29.9.671 [Abstract] [PDF] [Request Permissions]

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
T Revesz, S Fletcher, L I al-Gazali, and P DeBuse
J Med Genet 1992; 29: 673-675. doi:10.1136/jmg.29.9.673 [Abstract] [PDF] [Request Permissions]

Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.
J P Fryns, J Delooz, and H Van Den Berghe
J Med Genet 1992; 29: 676-677. doi:10.1136/jmg.29.9.676 [Abstract] [PDF] [Request Permissions]

Beckwith-Wiedemann syndrome.
A M Norman, A P Read, and D Donnai
J Med Genet 1992; 29: 679. doi:10.1136/jmg.29.9.679 [PDF] [Request Permissions]

A mutation in exon 7 of the CFTR gene is common in the western part of France.
M P Audrezet, B Mercier, H Guillermit, and C Ferec
J Med Genet 1992; 29: 679. doi:10.1136/jmg.29.9.679-a [PDF] [Request Permissions]

Williams syndrome and chromosome 18.
F H Menko and P J Stouthart
J Med Genet 1992; 29: 679-680. doi:10.1136/jmg.29.9.679-b [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Cloning of cDNAs for Fanconi's anaemia by functional complementation Andrew Wilkie J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion Judith Goodship J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Abnormal regulation of mammalian p21^ras contributes to malignant tumour growth in von Recklinghausen (type 1) neurofibromatosis N S Thakker J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR D O Robinson J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678-d [PDF] [Request Permissions]

	Analysis of Human Genetic Linkage Andrew P Read J Med Genet 1992; 29: 680. doi:10.1136/jmg.29.9.680 [PDF] [Request Permissions]

	Practical Genetics J M Connor J Med Genet 1992; 29: 680. doi:10.1136/jmg.29.9.680-a [PDF] [Request Permissions]

	Principles of Genetics J M Connor J Med Genet 1992; 29: 680. doi:10.1136/jmg.29.9.680-b [PDF] [Request Permissions]

	Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus W Reardon J Med Genet 1992; 29: 678. doi:10.1136/jmg.29.9.678-b [PDF] [Request Permissions]

	National haemophilia B molecular genetic register. R Harris J Med Genet 1992; 29: 601. doi:10.1136/jmg.29.9.601 [PDF] [Request Permissions]

	A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model. F Giannelli, S Saad, A J Montandon, D R Bentley, and P M Green J Med Genet 1992; 29: 602-607. doi:10.1136/jmg.29.9.602 [PDF] [Request Permissions]

	X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. A Harris, J Collins, D Vetrie, C Cole, and M Bobrow J Med Genet 1992; 29: 608-614. doi:10.1136/jmg.29.9.608 [Abstract] [PDF] [Request Permissions]

	Phenotype-genotype correlations in X linked retinitis pigmentosa. J Kaplan, A Pelet, C Martin, O Delrieu, S Aymé, D Bonneau, M L Briard, A Hanauer, L Larget-Piet, and P Lefrançois J Med Genet 1992; 29: 615-623. doi:10.1136/jmg.29.9.615 [Abstract] [PDF] [Request Permissions]

	Chromosomal localisation of a pseudoautosomal growth gene(s). T Ogata, C Petit, G Rappold, N Matsuo, T Matsumoto, and P Goodfellow J Med Genet 1992; 29: 624-628. doi:10.1136/jmg.29.9.624 [Abstract] [PDF] [Request Permissions]

	Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. G N Wilson, C S Richards, K Katz, and G S Brookshire J Med Genet 1992; 29: 629-634. doi:10.1136/jmg.29.9.629 [Abstract] [PDF] [Request Permissions]

	The acrocallosal syndrome and Greig syndrome are not allelic disorders. L A Brueton, K A Chotai, L van Herwerden, A Schinzel, and R M Winter J Med Genet 1992; 29: 635-637. doi:10.1136/jmg.29.9.635 [Abstract] [PDF] [Request Permissions]

	Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16. P M Pignatelli, S E Pound, A D Carothers, A M Macnicol, P L Allan, M L Watson, and A F Wright J Med Genet 1992; 29: 638-641. doi:10.1136/jmg.29.9.638 [Abstract] [PDF] [Request Permissions]

	Mutation analysis of 184 cystic fibrosis families in Wales. J Cheadle, J Myring, L al-Jader, and L Meredith J Med Genet 1992; 29: 642-646. doi:10.1136/jmg.29.9.642 [Abstract] [PDF] [Request Permissions]

	Identification of a new DMD gene deletion by ectopic transcript analysis. F Rininsland, A Hahn, S Niemann-Seyde, R Slomski, F Hanefeld, and J Reiss J Med Genet 1992; 29: 647-651. doi:10.1136/jmg.29.9.647 [Abstract] [PDF] [Request Permissions]

	Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. O Mäkitie J Med Genet 1992; 29: 652-655. doi:10.1136/jmg.29.9.652 [Abstract] [PDF] [Request Permissions]

	Screening for phenylketonuria in a totalitarian state. L Kalaydjieva and I Kremensky J Med Genet 1992; 29: 656-658. doi:10.1136/jmg.29.9.656 [Abstract] [PDF] [Request Permissions]

	Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects. P D Turnpenny, J C Dean, P Duffty, J A Reid, and P Carter J Med Genet 1992; 29: 659-662. doi:10.1136/jmg.29.9.659 [Abstract] [PDF] [Request Permissions]

	X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? D Vetrie, F Flinter, M Bobrow, and A Harris J Med Genet 1992; 29: 663-666. doi:10.1136/jmg.29.9.663 [Abstract] [PDF] [Request Permissions]

	Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family. C Bell, C A Converse, M F Collins, L Esakowitz, K F Kelly, and N E Haites J Med Genet 1992; 29: 667-668. doi:10.1136/jmg.29.9.667 [PDF] [Request Permissions]

	New dysmorphic features in Rubinstein-Taybi syndrome. D Kanjilal, M A Basir, R S Verma, B K Rajegowda, R Lala, and A Nagaraj J Med Genet 1992; 29: 669-670. doi:10.1136/jmg.29.9.669 [Abstract] [PDF] [Request Permissions]

	18p- syndrome and hypopituitarism. H G Artman, C A Morris, and A D Stock J Med Genet 1992; 29: 671-672. doi:10.1136/jmg.29.9.671 [Abstract] [PDF] [Request Permissions]

	Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? T Revesz, S Fletcher, L I al-Gazali, and P DeBuse J Med Genet 1992; 29: 673-675. doi:10.1136/jmg.29.9.673 [Abstract] [PDF] [Request Permissions]

	Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation. J P Fryns, J Delooz, and H Van Den Berghe J Med Genet 1992; 29: 676-677. doi:10.1136/jmg.29.9.676 [Abstract] [PDF] [Request Permissions]

	Beckwith-Wiedemann syndrome. A M Norman, A P Read, and D Donnai J Med Genet 1992; 29: 679. doi:10.1136/jmg.29.9.679 [PDF] [Request Permissions]

	A mutation in exon 7 of the CFTR gene is common in the western part of France. M P Audrezet, B Mercier, H Guillermit, and C Ferec J Med Genet 1992; 29: 679. doi:10.1136/jmg.29.9.679-a [PDF] [Request Permissions]

	Williams syndrome and chromosome 18. F H Menko and P J Stouthart J Med Genet 1992; 29: 679-680. doi:10.1136/jmg.29.9.679-b [PDF] [Request Permissions]