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October 1991 (Volume 28, Number 10). [Index by author]

		Book Reviews Conference Report Research Article

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Book Reviews

Pathology of the Human Embryo and Previable Fetus. An Atlas
D Donnai
J Med Genet 1991; 28: 725-726. doi:10.1136/jmg.28.10.725-a [PDF] [Request Permissions]

Genetic Variation and Disorders in Peoples of African Origin
Trefor Jenkins
J Med Genet 1991; 28: 726-727. doi:10.1136/jmg.28.10.726 [PDF] [Request Permissions]

Obstetric Genetics
Dian Donnai and Paul Donnai
J Med Genet 1991; 28: 727. doi:10.1136/jmg.28.10.727 [PDF] [Request Permissions]

Human Prenatal Diagnosis
D J H Brock
J Med Genet 1991; 28: 727. doi:10.1136/jmg.28.10.727-a [PDF] [Request Permissions]

London Dysmorphology Database
Alan Fryer
J Med Genet 1991; 28: 727-728. doi:10.1136/jmg.28.10.727-b [PDF] [Request Permissions]

Conference Report

Social and genetic implications of customary consanguineous marriage among British Pakistanis. Report of a meeting held at the Ciba Foundation on 15 January 1991
B Modell
J Med Genet 1991; 28: 720-723. doi:10.1136/jmg.28.10.720 [PDF] [Request Permissions]

Research Article

Molecular and cytogenetic studies of the Prader-Willi syndrome.
R J Trent, F Volpato, A Smith, R Lindeman, M K Wong, G Warne, and E Haan
J Med Genet 1991; 28: 649-654. doi:10.1136/jmg.28.10.649 [Abstract] [PDF] [Request Permissions]

Genetic counselling in facioscapulohumeral muscular dystrophy.
P W Lunt and P S Harper
J Med Genet 1991; 28: 655-664. doi:10.1136/jmg.28.10.655 [Abstract] [PDF] [Request Permissions]

A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.
M Upadhyaya, P W Lunt, M Sarfarazi, W Broadhead, J Daniels, M Owen, and P S Harper
J Med Genet 1991; 28: 665-671. doi:10.1136/jmg.28.10.665 [Abstract] [PDF] [Request Permissions]

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.
A H Bröcker-Vriends, F R Rosendaal, J C van Houwelingen, E Bakker, G J van Ommen, J J van de Kamp, and E Briët
J Med Genet 1991; 28: 672-680. doi:10.1136/jmg.28.10.672 [Abstract] [PDF] [Request Permissions]

Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families.
M B Cachon-Gonzalez, J D Delhanty, J Burn, K Tsioupra, M B Davis, J Attwood, and P Chapman
J Med Genet 1991; 28: 681-685. doi:10.1136/jmg.28.10.681 [Abstract] [PDF] [Request Permissions]

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
L Kalaydjieva, B Dworniczak, C Aulehla-Scholz, M Devoto, G Romeo, M Sturhmann, V Kucinskas, V Yurgelyavicius, and J Horst
J Med Genet 1991; 28: 686-690. doi:10.1136/jmg.28.10.686 [Abstract] [PDF] [Request Permissions]

A male with type I orofaciodigital syndrome.
J Goodship, J Platt, R Smith, and J Burn
J Med Genet 1991; 28: 691-694. doi:10.1136/jmg.28.10.691 [Abstract] [PDF] [Request Permissions]

Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.
A L Ogilvy-Stuart and A C Parsons
J Med Genet 1991; 28: 695-700. doi:10.1136/jmg.28.10.695 [Abstract] [PDF] [Request Permissions]

A new form of autosomal dominant arthrogryposis.
M M Lai, M A Tettenborn, J G Hall, L J Smith, and A C Berry
J Med Genet 1991; 28: 701-703. doi:10.1136/jmg.28.10.701 [Abstract] [PDF] [Request Permissions]

Cerebrocostomandibular syndrome in four sibs, two pairs of twins.
V Drossou-Agakidou, A Andreou, V Soubassi-Griva, and M Pandouraki
J Med Genet 1991; 28: 704-707. doi:10.1136/jmg.28.10.704 [Abstract] [PDF] [Request Permissions]

Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.
C G Bönnemann, P Meinecke, and H Reich
J Med Genet 1991; 28: 708-711. doi:10.1136/jmg.28.10.708 [Abstract] [PDF] [Request Permissions]

Disorganisation: a possible cause of apparent conjoint twinning.
M A Petzel and R P Erickson
J Med Genet 1991; 28: 712-714. doi:10.1136/jmg.28.10.712 [Abstract] [PDF] [Request Permissions]

A cystic fibrosis patient homozygous for the nonsense mutation R553X.
J Bal, M Stuhrmann, M Schloesser, J Schmidtke, and J Reiss
J Med Genet 1991; 28: 715-717. doi:10.1136/jmg.28.10.715 [Abstract] [PDF] [Request Permissions]

An animal model for maternal phenylketonuria.
C Roux, F Rey, S Lyonnet, S Nizard, N Mulliez, and A Munnich
J Med Genet 1991; 28: 718-719. doi:10.1136/jmg.28.10.718 [PDF] [Request Permissions]

The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
A O Wilkie, M E Pembrey, R J Gibbons, D R Higgs, M E Porteous, J Burn, and R M Winter
J Med Genet 1991; 28: 724. doi:10.1136/jmg.28.10.724 [PDF] [Request Permissions]

Leiomyosarcoma in a patient with trisomy 8 mosaicism.
W M Molenaar, B De Jong, and E Van den Berg
J Med Genet 1991; 28: 724-725. doi:10.1136/jmg.28.10.724-a [PDF] [Request Permissions]

Further evidence for the location of the BPES gene at 3q2.
C E de Die-Smulders, J J Engelen, J M Donk, and J P Fryns
J Med Genet 1991; 28: 725. doi:10.1136/jmg.28.10.725 [PDF] [Request Permissions]

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	Pathology of the Human Embryo and Previable Fetus. An Atlas D Donnai J Med Genet 1991; 28: 725-726. doi:10.1136/jmg.28.10.725-a [PDF] [Request Permissions]

	Genetic Variation and Disorders in Peoples of African Origin Trefor Jenkins J Med Genet 1991; 28: 726-727. doi:10.1136/jmg.28.10.726 [PDF] [Request Permissions]

	Obstetric Genetics Dian Donnai and Paul Donnai J Med Genet 1991; 28: 727. doi:10.1136/jmg.28.10.727 [PDF] [Request Permissions]

	Human Prenatal Diagnosis D J H Brock J Med Genet 1991; 28: 727. doi:10.1136/jmg.28.10.727-a [PDF] [Request Permissions]

	London Dysmorphology Database Alan Fryer J Med Genet 1991; 28: 727-728. doi:10.1136/jmg.28.10.727-b [PDF] [Request Permissions]

	Social and genetic implications of customary consanguineous marriage among British Pakistanis. Report of a meeting held at the Ciba Foundation on 15 January 1991 B Modell J Med Genet 1991; 28: 720-723. doi:10.1136/jmg.28.10.720 [PDF] [Request Permissions]

	Molecular and cytogenetic studies of the Prader-Willi syndrome. R J Trent, F Volpato, A Smith, R Lindeman, M K Wong, G Warne, and E Haan J Med Genet 1991; 28: 649-654. doi:10.1136/jmg.28.10.649 [Abstract] [PDF] [Request Permissions]

	Genetic counselling in facioscapulohumeral muscular dystrophy. P W Lunt and P S Harper J Med Genet 1991; 28: 655-664. doi:10.1136/jmg.28.10.655 [Abstract] [PDF] [Request Permissions]

	A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q. M Upadhyaya, P W Lunt, M Sarfarazi, W Broadhead, J Daniels, M Owen, and P S Harper J Med Genet 1991; 28: 665-671. doi:10.1136/jmg.28.10.665 [Abstract] [PDF] [Request Permissions]

	Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis. A H Bröcker-Vriends, F R Rosendaal, J C van Houwelingen, E Bakker, G J van Ommen, J J van de Kamp, and E Briët J Med Genet 1991; 28: 672-680. doi:10.1136/jmg.28.10.672 [Abstract] [PDF] [Request Permissions]

	Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families. M B Cachon-Gonzalez, J D Delhanty, J Burn, K Tsioupra, M B Davis, J Attwood, and P Chapman J Med Genet 1991; 28: 681-685. doi:10.1136/jmg.28.10.681 [Abstract] [PDF] [Request Permissions]

	Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria. L Kalaydjieva, B Dworniczak, C Aulehla-Scholz, M Devoto, G Romeo, M Sturhmann, V Kucinskas, V Yurgelyavicius, and J Horst J Med Genet 1991; 28: 686-690. doi:10.1136/jmg.28.10.686 [Abstract] [PDF] [Request Permissions]

	A male with type I orofaciodigital syndrome. J Goodship, J Platt, R Smith, and J Burn J Med Genet 1991; 28: 691-694. doi:10.1136/jmg.28.10.691 [Abstract] [PDF] [Request Permissions]

	Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype. A L Ogilvy-Stuart and A C Parsons J Med Genet 1991; 28: 695-700. doi:10.1136/jmg.28.10.695 [Abstract] [PDF] [Request Permissions]

	A new form of autosomal dominant arthrogryposis. M M Lai, M A Tettenborn, J G Hall, L J Smith, and A C Berry J Med Genet 1991; 28: 701-703. doi:10.1136/jmg.28.10.701 [Abstract] [PDF] [Request Permissions]

	Cerebrocostomandibular syndrome in four sibs, two pairs of twins. V Drossou-Agakidou, A Andreou, V Soubassi-Griva, and M Pandouraki J Med Genet 1991; 28: 704-707. doi:10.1136/jmg.28.10.704 [Abstract] [PDF] [Request Permissions]

	Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. C G Bönnemann, P Meinecke, and H Reich J Med Genet 1991; 28: 708-711. doi:10.1136/jmg.28.10.708 [Abstract] [PDF] [Request Permissions]

	Disorganisation: a possible cause of apparent conjoint twinning. M A Petzel and R P Erickson J Med Genet 1991; 28: 712-714. doi:10.1136/jmg.28.10.712 [Abstract] [PDF] [Request Permissions]

	A cystic fibrosis patient homozygous for the nonsense mutation R553X. J Bal, M Stuhrmann, M Schloesser, J Schmidtke, and J Reiss J Med Genet 1991; 28: 715-717. doi:10.1136/jmg.28.10.715 [Abstract] [PDF] [Request Permissions]

	An animal model for maternal phenylketonuria. C Roux, F Rey, S Lyonnet, S Nizard, N Mulliez, and A Munnich J Med Genet 1991; 28: 718-719. doi:10.1136/jmg.28.10.718 [PDF] [Request Permissions]

	The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. A O Wilkie, M E Pembrey, R J Gibbons, D R Higgs, M E Porteous, J Burn, and R M Winter J Med Genet 1991; 28: 724. doi:10.1136/jmg.28.10.724 [PDF] [Request Permissions]

	Leiomyosarcoma in a patient with trisomy 8 mosaicism. W M Molenaar, B De Jong, and E Van den Berg J Med Genet 1991; 28: 724-725. doi:10.1136/jmg.28.10.724-a [PDF] [Request Permissions]

	Further evidence for the location of the BPES gene at 3q2. C E de Die-Smulders, J J Engelen, J M Donk, and J P Fryns J Med Genet 1991; 28: 725. doi:10.1136/jmg.28.10.725 [PDF] [Request Permissions]