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September 1994 (Volume 31, Number 9). [Index by author]

		Research Article

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Research Article

The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.
M L Barth, A Fensom, and A Harris
J Med Genet 1994; 31: 663-666. doi:10.1136/jmg.31.9.663 [PDF] [Request Permissions]

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.
M L Barth, C Ward, A Harris, A Saad, and A Fensom
J Med Genet 1994; 31: 667-671. doi:10.1136/jmg.31.9.667 [Abstract] [PDF] [Request Permissions]

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.
J Zlotogora, Y Furman-Shaharabani, A Harris, M L Barth, K von Figura, and V Gieselmann
J Med Genet 1994; 31: 672-674. doi:10.1136/jmg.31.9.672 [Abstract] [PDF] [Request Permissions]

A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
C S Munro, S Carter, S Bryce, M Hall, J L Rees, L Kunkeler, A Stephenson, and T Strachan
J Med Genet 1994; 31: 675-678. doi:10.1136/jmg.31.9.675 [Abstract] [PDF] [Request Permissions]

FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs.
A F Davies, L Barber, M Murer-Orlando, M Bobrow, and M Adinolfi
J Med Genet 1994; 31: 679-685. doi:10.1136/jmg.31.9.679 [Abstract] [PDF] [Request Permissions]

Anticipation in Swedish families with bipolar affective disorder.
P O Nylander, C Engström, J Chotai, J Wahlström, and R Adolfsson
J Med Genet 1994; 31: 686-689. doi:10.1136/jmg.31.9.686 [Abstract] [PDF] [Request Permissions]

Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia.
D C Rubinsztein, J Leggo, S Goodburn, T J Crow, R Lofthouse, L E DeLisi, D E Barton, and M A Ferguson-Smith
J Med Genet 1994; 31: 690-693. doi:10.1136/jmg.31.9.690 [Abstract] [PDF] [Request Permissions]

Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
C G Woods, A Bankier, J Curry, L J Sheffield, S F Slaney, K Smith, L Voullaire, and D Wellesley
J Med Genet 1994; 31: 694-701. doi:10.1136/jmg.31.9.694 [Abstract] [PDF] [Request Permissions]

Genetic epidemiology of single gene defects in Chile.
R Cruz-Coke and R S Moreno
J Med Genet 1994; 31: 702-706. doi:10.1136/jmg.31.9.702 [Abstract] [PDF] [Request Permissions]

Mulvihill-Smith syndrome: case report and review.
O Bartsch, K D Tympner, E Schwinger, and R J Gorlin
J Med Genet 1994; 31: 707-711. doi:10.1136/jmg.31.9.707 [Abstract] [PDF] [Request Permissions]

Familial half cryptic translocation t(9;17).
A Köhler, J Hain, and U Müller
J Med Genet 1994; 31: 712-714. doi:10.1136/jmg.31.9.712 [Abstract] [PDF] [Request Permissions]

Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.
J Hone, D Accili, L I al-Gazali, G Lestringant, T Orban, and S I Taylor
J Med Genet 1994; 31: 715-716. doi:10.1136/jmg.31.9.715 [Abstract] [PDF] [Request Permissions]

Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.
T Lester, M de Alwis, P A Clark, A M Jones, F Katz, R J Levinsky, and C Kinnon
J Med Genet 1994; 31: 717-720. doi:10.1136/jmg.31.9.717 [Abstract] [PDF] [Request Permissions]

Autosomal dominant simple microphthalmos.
E M Vingolo, K Steindl, R Forte, L Zompatori, A Iannaccone, A Sciarra, G Del Porto, and M R Pannarale
J Med Genet 1994; 31: 721-725. doi:10.1136/jmg.31.9.721 [Abstract] [PDF] [Request Permissions]

Cleft hand/foot: clinical and developmental aspects.
P W Buss
J Med Genet 1994; 31: 726-730. doi:10.1136/jmg.31.9.726 [Abstract] [PDF] [Request Permissions]

A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.
B Mercier, W Lissens, G Novelli, L Kalaydjieva, M de Arce, N Kapranov, N Canki Klain, X Estivill, A Palacio, and S Cashman
J Med Genet 1994; 31: 731-734. doi:10.1136/jmg.31.9.731 [Abstract] [PDF] [Request Permissions]

Diaphragmatic herniae and translocations involving 8q22 in two patients.
I K Temple, J C Barber, R S James, and D Burge
J Med Genet 1994; 31: 735-737. doi:10.1136/jmg.31.9.735 [Abstract] [PDF] [Request Permissions]

An interstitial deletion of chromosome 7(q35).
K Fagan, C Kennedy, L Roddick, and A Colley
J Med Genet 1994; 31: 738-739. doi:10.1136/jmg.31.9.738 [Abstract] [PDF] [Request Permissions]

The Pallister-Hall syndrome.
A Sama, J D Mason, K P Gibbin, I D Young, and M Hewitt
J Med Genet 1994; 31: 740. doi:10.1136/jmg.31.9.740 [PDF] [Request Permissions]

Familial Pallister-Hall syndrome.
L G Biesecker, K Topf, and J M Graham, Jr
J Med Genet 1994; 31: 740. doi:10.1136/jmg.31.9.740-a [PDF] [Request Permissions]

"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?
A Lipson, B Emanuel, P Colley, K Fagan, and D A Driscoll
J Med Genet 1994; 31: 741. doi:10.1136/jmg.31.9.741 [PDF] [Request Permissions]

Skeletal malformations and polycystic kidney disease.
A E Turco, B Peissel, S Rossetti, P F Pignatti, E M Padovani, and G P Chiaffoni
J Med Genet 1994; 31: 741-742. doi:10.1136/jmg.31.9.741-a [PDF] [Request Permissions]

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	The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy. M L Barth, A Fensom, and A Harris J Med Genet 1994; 31: 663-666. doi:10.1136/jmg.31.9.663 [PDF] [Request Permissions]

	Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population. M L Barth, C Ward, A Harris, A Saad, and A Fensom J Med Genet 1994; 31: 667-671. doi:10.1136/jmg.31.9.667 [Abstract] [PDF] [Request Permissions]

	A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. J Zlotogora, Y Furman-Shaharabani, A Harris, M L Barth, K von Figura, and V Gieselmann J Med Genet 1994; 31: 672-674. doi:10.1136/jmg.31.9.672 [Abstract] [PDF] [Request Permissions]

	A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. C S Munro, S Carter, S Bryce, M Hall, J L Rees, L Kunkeler, A Stephenson, and T Strachan J Med Genet 1994; 31: 675-678. doi:10.1136/jmg.31.9.675 [Abstract] [PDF] [Request Permissions]

	FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs. A F Davies, L Barber, M Murer-Orlando, M Bobrow, and M Adinolfi J Med Genet 1994; 31: 679-685. doi:10.1136/jmg.31.9.679 [Abstract] [PDF] [Request Permissions]

	Anticipation in Swedish families with bipolar affective disorder. P O Nylander, C Engström, J Chotai, J Wahlström, and R Adolfsson J Med Genet 1994; 31: 686-689. doi:10.1136/jmg.31.9.686 [Abstract] [PDF] [Request Permissions]

	Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia. D C Rubinsztein, J Leggo, S Goodburn, T J Crow, R Lofthouse, L E DeLisi, D E Barton, and M A Ferguson-Smith J Med Genet 1994; 31: 690-693. doi:10.1136/jmg.31.9.690 [Abstract] [PDF] [Request Permissions]

	Asymmetry and skin pigmentary anomalies in chromosome mosaicism. C G Woods, A Bankier, J Curry, L J Sheffield, S F Slaney, K Smith, L Voullaire, and D Wellesley J Med Genet 1994; 31: 694-701. doi:10.1136/jmg.31.9.694 [Abstract] [PDF] [Request Permissions]

	Genetic epidemiology of single gene defects in Chile. R Cruz-Coke and R S Moreno J Med Genet 1994; 31: 702-706. doi:10.1136/jmg.31.9.702 [Abstract] [PDF] [Request Permissions]

	Mulvihill-Smith syndrome: case report and review. O Bartsch, K D Tympner, E Schwinger, and R J Gorlin J Med Genet 1994; 31: 707-711. doi:10.1136/jmg.31.9.707 [Abstract] [PDF] [Request Permissions]

	Familial half cryptic translocation t(9;17). A Köhler, J Hain, and U Müller J Med Genet 1994; 31: 712-714. doi:10.1136/jmg.31.9.712 [Abstract] [PDF] [Request Permissions]

	Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. J Hone, D Accili, L I al-Gazali, G Lestringant, T Orban, and S I Taylor J Med Genet 1994; 31: 715-716. doi:10.1136/jmg.31.9.715 [Abstract] [PDF] [Request Permissions]

	Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis. T Lester, M de Alwis, P A Clark, A M Jones, F Katz, R J Levinsky, and C Kinnon J Med Genet 1994; 31: 717-720. doi:10.1136/jmg.31.9.717 [Abstract] [PDF] [Request Permissions]

	Autosomal dominant simple microphthalmos. E M Vingolo, K Steindl, R Forte, L Zompatori, A Iannaccone, A Sciarra, G Del Porto, and M R Pannarale J Med Genet 1994; 31: 721-725. doi:10.1136/jmg.31.9.721 [Abstract] [PDF] [Request Permissions]

	Cleft hand/foot: clinical and developmental aspects. P W Buss J Med Genet 1994; 31: 726-730. doi:10.1136/jmg.31.9.726 [Abstract] [PDF] [Request Permissions]

	A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations. B Mercier, W Lissens, G Novelli, L Kalaydjieva, M de Arce, N Kapranov, N Canki Klain, X Estivill, A Palacio, and S Cashman J Med Genet 1994; 31: 731-734. doi:10.1136/jmg.31.9.731 [Abstract] [PDF] [Request Permissions]

	Diaphragmatic herniae and translocations involving 8q22 in two patients. I K Temple, J C Barber, R S James, and D Burge J Med Genet 1994; 31: 735-737. doi:10.1136/jmg.31.9.735 [Abstract] [PDF] [Request Permissions]

	An interstitial deletion of chromosome 7(q35). K Fagan, C Kennedy, L Roddick, and A Colley J Med Genet 1994; 31: 738-739. doi:10.1136/jmg.31.9.738 [Abstract] [PDF] [Request Permissions]

	The Pallister-Hall syndrome. A Sama, J D Mason, K P Gibbin, I D Young, and M Hewitt J Med Genet 1994; 31: 740. doi:10.1136/jmg.31.9.740 [PDF] [Request Permissions]

	Familial Pallister-Hall syndrome. L G Biesecker, K Topf, and J M Graham, Jr J Med Genet 1994; 31: 740. doi:10.1136/jmg.31.9.740-a [PDF] [Request Permissions]

	"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency? A Lipson, B Emanuel, P Colley, K Fagan, and D A Driscoll J Med Genet 1994; 31: 741. doi:10.1136/jmg.31.9.741 [PDF] [Request Permissions]

	Skeletal malformations and polycystic kidney disease. A E Turco, B Peissel, S Rossetti, P F Pignatti, E M Padovani, and G P Chiaffoni J Med Genet 1994; 31: 741-742. doi:10.1136/jmg.31.9.741-a [PDF] [Request Permissions]