J Med Genet -- Table of Contents (27 [12])

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December 1990 (Volume 27, Number 12). [Index by author]

		Book Review Research Article

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Book Review

Third International Conference on Osteogenesis Imperfecta
Helen M Kingston
J Med Genet 1990; 27: 792. doi:10.1136/jmg.27.12.792 [PDF] [Request Permissions]

Research Article

Alagille syndrome and deletion of 20p.
F Anad, J Burn, D Matthews, I Cross, B C Davison, R Mueller, M Sands, D M Lillington, and E Eastham
J Med Genet 1990; 27: 729-737. doi:10.1136/jmg.27.12.729 [Abstract] [PDF] [Request Permissions]

A 90 kb DNA deletion associated with neurofibromatosis type 1.
M Upadhyaya, A Cheryson, W Broadhead, A Fryer, D J Shaw, S Huson, M R Wallace, L B Andersen, D A Marchuk, and D Viskochil
J Med Genet 1990; 27: 738-741. doi:10.1136/jmg.27.12.738 [Abstract] [PDF] [Request Permissions]

Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations.
L Kalaydjieva, B Dworniczak, C Aulehla-Scholz, I Kremensky, J Bronzova, A Eigel, and J Horst
J Med Genet 1990; 27: 742-745. doi:10.1136/jmg.27.12.742 [Abstract] [PDF] [Request Permissions]

Two brothers with heart defects and limb shortening: case reports and review.
W Reardon, J Hurst, T I Farag, C Hall, and M Baraitser
J Med Genet 1990; 27: 746-751. doi:10.1136/jmg.27.12.746 [Abstract] [PDF] [Request Permissions]

Dilemmas in counselling: the EEC syndrome.
K Tse, I K Temple, and M Baraitser
J Med Genet 1990; 27: 752-755. doi:10.1136/jmg.27.12.752 [Abstract] [PDF] [Request Permissions]

Hydrolethalus syndrome.
R Salonen and R Herva
J Med Genet 1990; 27: 756-759. doi:10.1136/jmg.27.12.756 [PDF] [Request Permissions]

Medical genetics in South Africa.
T Jenkins
J Med Genet 1990; 27: 760-779. doi:10.1136/jmg.27.12.760 [PDF] [Request Permissions]

Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi.
M B Qumsiyeh, A T Tharapel, L P Shulman, J L Simpson, and S Elias
J Med Genet 1990; 27: 780-781. doi:10.1136/jmg.27.12.780 [Abstract] [PDF] [Request Permissions]

Tetraploidy in a liveborn infant.
I López Pajares, A Delicado, A Diaz de Bustamante, A Pellicer, I Pinel, M Pardo, and M Martin
J Med Genet 1990; 27: 782-783. doi:10.1136/jmg.27.12.782 [Abstract] [PDF] [Request Permissions]

Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).
P Galea and J L Tolmie
J Med Genet 1990; 27: 784-787. doi:10.1136/jmg.27.12.784 [Abstract] [PDF] [Request Permissions]

Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.
D J Aughton, C T Sloan, M P Milad, T E Huang, C Michael, and C Harper
J Med Genet 1990; 27: 788-790. doi:10.1136/jmg.27.12.788 [Abstract] [PDF] [Request Permissions]

Multiple pterygium syndrome: a relatively common disorder among Arabs.
A S Teebi and A S Daoud
J Med Genet 1990; 27: 791. doi:10.1136/jmg.27.12.791 [PDF] [Request Permissions]

Features of Turner's and DiGeorge's syndromes with X;22 translocation.
S Gilgenkrantz and M Teboul
J Med Genet 1990; 27: 791. doi:10.1136/jmg.27.12.791-a [PDF] [Request Permissions]

Marfan syndrome.
R S Houlston and P Parry
J Med Genet 1990; 27: 791-792. doi:10.1136/jmg.27.12.791-b [PDF] [Request Permissions]

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	Third International Conference on Osteogenesis Imperfecta Helen M Kingston J Med Genet 1990; 27: 792. doi:10.1136/jmg.27.12.792 [PDF] [Request Permissions]

	Alagille syndrome and deletion of 20p. F Anad, J Burn, D Matthews, I Cross, B C Davison, R Mueller, M Sands, D M Lillington, and E Eastham J Med Genet 1990; 27: 729-737. doi:10.1136/jmg.27.12.729 [Abstract] [PDF] [Request Permissions]

	A 90 kb DNA deletion associated with neurofibromatosis type 1. M Upadhyaya, A Cheryson, W Broadhead, A Fryer, D J Shaw, S Huson, M R Wallace, L B Andersen, D A Marchuk, and D Viskochil J Med Genet 1990; 27: 738-741. doi:10.1136/jmg.27.12.738 [Abstract] [PDF] [Request Permissions]

	Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations. L Kalaydjieva, B Dworniczak, C Aulehla-Scholz, I Kremensky, J Bronzova, A Eigel, and J Horst J Med Genet 1990; 27: 742-745. doi:10.1136/jmg.27.12.742 [Abstract] [PDF] [Request Permissions]

	Two brothers with heart defects and limb shortening: case reports and review. W Reardon, J Hurst, T I Farag, C Hall, and M Baraitser J Med Genet 1990; 27: 746-751. doi:10.1136/jmg.27.12.746 [Abstract] [PDF] [Request Permissions]

	Dilemmas in counselling: the EEC syndrome. K Tse, I K Temple, and M Baraitser J Med Genet 1990; 27: 752-755. doi:10.1136/jmg.27.12.752 [Abstract] [PDF] [Request Permissions]

	Hydrolethalus syndrome. R Salonen and R Herva J Med Genet 1990; 27: 756-759. doi:10.1136/jmg.27.12.756 [PDF] [Request Permissions]

	Medical genetics in South Africa. T Jenkins J Med Genet 1990; 27: 760-779. doi:10.1136/jmg.27.12.760 [PDF] [Request Permissions]

	Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi. M B Qumsiyeh, A T Tharapel, L P Shulman, J L Simpson, and S Elias J Med Genet 1990; 27: 780-781. doi:10.1136/jmg.27.12.780 [Abstract] [PDF] [Request Permissions]

	Tetraploidy in a liveborn infant. I López Pajares, A Delicado, A Diaz de Bustamante, A Pellicer, I Pinel, M Pardo, and M Martin J Med Genet 1990; 27: 782-783. doi:10.1136/jmg.27.12.782 [Abstract] [PDF] [Request Permissions]

	Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). P Galea and J L Tolmie J Med Genet 1990; 27: 784-787. doi:10.1136/jmg.27.12.784 [Abstract] [PDF] [Request Permissions]

	Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant. D J Aughton, C T Sloan, M P Milad, T E Huang, C Michael, and C Harper J Med Genet 1990; 27: 788-790. doi:10.1136/jmg.27.12.788 [Abstract] [PDF] [Request Permissions]

	Multiple pterygium syndrome: a relatively common disorder among Arabs. A S Teebi and A S Daoud J Med Genet 1990; 27: 791. doi:10.1136/jmg.27.12.791 [PDF] [Request Permissions]

	Features of Turner's and DiGeorge's syndromes with X;22 translocation. S Gilgenkrantz and M Teboul J Med Genet 1990; 27: 791. doi:10.1136/jmg.27.12.791-a [PDF] [Request Permissions]

	Marfan syndrome. R S Houlston and P Parry J Med Genet 1990; 27: 791-792. doi:10.1136/jmg.27.12.791-b [PDF] [Request Permissions]

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