J Med Genet -- Table of Contents (31 [11])

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November 1994 (Volume 31, Number 11). [Index by author]

		Abstracts Book Reviews Conference Report Research Article

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Abstracts

Medical genetics: advances in brief: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
John C K Barber
J Med Genet 1994; 31: 895. doi:10.1136/jmg.31.11.895 [PDF] [Request Permissions]

Medical genetics: advances in brief
W Reardon
J Med Genet 1994; 31: 895. doi:10.1136/jmg.31.11.895-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
D Ravine
J Med Genet 1994; 31: 895. doi:10.1136/jmg.31.11.895-b [PDF] [Request Permissions]

Book Reviews

Human Malformations and Related Anomalies
Dian Donnai
J Med Genet 1994; 31: 899. doi:10.1136/jmg.31.11.899 [PDF] [Request Permissions]

Genetic Studies in Affective Disorder: Overview of Basic Methods, Current Directions and Critical Research Issues
Stephanie Sadler
J Med Genet 1994; 31: 899. doi:10.1136/jmg.31.11.899-a [PDF] [Request Permissions]

Fundamentals of Genetic Epidemiology
D T Bishop
J Med Genet 1994; 31: 900. doi:10.1136/jmg.31.11.900 [PDF] [Request Permissions]

The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics
Andrew P Read
J Med Genet 1994; 31: 900. doi:10.1136/jmg.31.11.900-a [PDF] [Request Permissions]

Chromosomes: A Synthesis
A Schinzel
J Med Genet 1994; 31: 900. doi:10.1136/jmg.31.11.900-b [PDF] [Request Permissions]

Genes V
Alistair Stewart
J Med Genet 1994; 31: 900-901. doi:10.1136/jmg.31.11.900-c [PDF] [Request Permissions]

Molecular Genetics of Sex Determination
Alan J Schafer
J Med Genet 1994; 31: 901. doi:10.1136/jmg.31.11.901 [PDF] [Request Permissions]

Human Cytogenetics Database
M Creasy and D Ravine
J Med Genet 1994; 31: 901-902. doi:10.1136/jmg.31.11.901-a [PDF] [Request Permissions]

Understanding Genetics: A Molecular Approach
David Rubinsztein
J Med Genet 1994; 31: 902. doi:10.1136/jmg.31.11.902 [PDF] [Request Permissions]

Conference Report

Culture, kinship and genes
Angus Clarke
J Med Genet 1994; 31: 893-894. doi:10.1136/jmg.31.11.893 [PDF] [Request Permissions]

Research Article

Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis.
J W Keeling and I Kjaer
J Med Genet 1994; 31: 823-829. doi:10.1136/jmg.31.11.823 [Abstract] [PDF] [Request Permissions]

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.
L H Seaver, J W Pierpont, R P Erickson, R L Donnerstein, and S B Cassidy
J Med Genet 1994; 31: 830-834. doi:10.1136/jmg.31.11.830 [Abstract] [PDF] [Request Permissions]

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.
L C Wilson, M E Oude Luttikhuis, P T Clayton, W D Fraser, and R C Trembath
J Med Genet 1994; 31: 835-839. doi:10.1136/jmg.31.11.835 [Abstract] [PDF] [Request Permissions]

Possible role of imprinting in the Turner phenotype.
C E Chu, M D Donaldson, C J Kelnar, P J Smail, S A Greene, W F Paterson, and J M Connor
J Med Genet 1994; 31: 840-842. doi:10.1136/jmg.31.11.840 [Abstract] [PDF] [Request Permissions]

Deletions in the 5' region of dystrophin and resulting phenotypes.
F Muntoni, P Gobbi, C Sewry, T Sherratt, J Taylor, S K Sandhu, S Abbs, R Roberts, S V Hodgson, and M Bobrow
J Med Genet 1994; 31: 843-847. doi:10.1136/jmg.31.11.843 [Abstract] [PDF] [Request Permissions]

Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.
M A Aldred, P W Teague, M Jay, S Bundey, R M Redmond, B Jay, A C Bird, S S Bhattacharya, and A F Wright
J Med Genet 1994; 31: 848-852. doi:10.1136/jmg.31.11.848 [Abstract] [PDF] [Request Permissions]

Neurofibromatosis type 1 in Israel: survey of young adults.
B Z Garty, A Laor, and Y L Danon
J Med Genet 1994; 31: 853-857. doi:10.1136/jmg.31.11.853 [Abstract] [PDF] [Request Permissions]

Genetic study of congenital heart defects in Northern Ireland (1974-1978).
E J Hanna, N C Nevin, and J Nelson
J Med Genet 1994; 31: 858-863. doi:10.1136/jmg.31.11.858 [Abstract] [PDF] [Request Permissions]

Counselling following diagnosis of a fetal abnormality: the differing approaches of obstetricians, clinical geneticists, and genetic nurses.
T Marteau, H Drake, and M Bobrow
J Med Genet 1994; 31: 864-867. doi:10.1136/jmg.31.11.864 [Abstract] [PDF] [Request Permissions]

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.
R A Gibson, D Ford, S Jansen, A Savoia, C Havenga, R D Milner, T J de Ravel, R J Cohn, S E Ball, and I Roberts
J Med Genet 1994; 31: 868-871. doi:10.1136/jmg.31.11.868 [Abstract] [PDF] [Request Permissions]

Trinucleotide repeat length and progression of illness in Huntington's disease.
K Kieburtz, M MacDonald, C Shih, A Feigin, K Steinberg, K Bordwell, C Zimmerman, J Srinidhi, J Sotack, and J Gusella
J Med Genet 1994; 31: 872-874. doi:10.1136/jmg.31.11.872 [Abstract] [PDF] [Request Permissions]

Pyruvate dehydrogenase deficiency.
G K Brown, L J Otero, M LeGris, and R M Brown
J Med Genet 1994; 31: 875-879. doi:10.1136/jmg.31.11.875 [PDF] [Request Permissions]

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.
F Schiavon, M L Mostacciuolo, F Saad, L Merlini, G Siciliano, C Angelini, and G A Danieli
J Med Genet 1994; 31: 880-883. doi:10.1136/jmg.31.11.880 [Abstract] [PDF] [Request Permissions]

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
R S Houlston, R M Renshaw, R S James, R Ironton, and I K Temple
J Med Genet 1994; 31: 884-887. doi:10.1136/jmg.31.11.884 [Abstract] [PDF] [Request Permissions]

APC mutation associated with late onset of familial adenomatous polyposis.
J Smith-Ravin, K Pack, S Hodgson, S K Tay, R Phillips, and W Bodmer
J Med Genet 1994; 31: 888-890. doi:10.1136/jmg.31.11.888 [Abstract] [PDF] [Request Permissions]

High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient.
C Daumerie, N Lannoy, J P Squifflet, G Verellen, and C Verellen-Dumoulin
J Med Genet 1994; 31: 891-892. doi:10.1136/jmg.31.11.891 [Abstract] [PDF] [Request Permissions]

Forensic medicine, PCR, and Bayesian approach.
F Taroni and C Champod
J Med Genet 1994; 31: 896. doi:10.1136/jmg.31.11.896 [PDF] [Request Permissions]

The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome.
M A Sabry
J Med Genet 1994; 31: 897. doi:10.1136/jmg.31.11.897 [PDF] [Request Permissions]

No association between dopamine D4 receptor polymorphism and manic depressive illness.
I Pérez de Castro, P Torres, J Fernández-Piqueras, J Saiz-Ruiz, and C Llinares
J Med Genet 1994; 31: 897-898. doi:10.1136/jmg.31.11.897-a [PDF] [Request Permissions]

3-M syndrome and intracerebral aneurysms.
R C Hennekam, M Limburg, and G Pals
J Med Genet 1994; 31: 898. doi:10.1136/jmg.31.11.898 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci John C K Barber J Med Genet 1994; 31: 895. doi:10.1136/jmg.31.11.895 [PDF] [Request Permissions]

	Medical genetics: advances in brief W Reardon J Med Genet 1994; 31: 895. doi:10.1136/jmg.31.11.895-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome D Ravine J Med Genet 1994; 31: 895. doi:10.1136/jmg.31.11.895-b [PDF] [Request Permissions]

	Human Malformations and Related Anomalies Dian Donnai J Med Genet 1994; 31: 899. doi:10.1136/jmg.31.11.899 [PDF] [Request Permissions]

	Genetic Studies in Affective Disorder: Overview of Basic Methods, Current Directions and Critical Research Issues Stephanie Sadler J Med Genet 1994; 31: 899. doi:10.1136/jmg.31.11.899-a [PDF] [Request Permissions]

	Fundamentals of Genetic Epidemiology D T Bishop J Med Genet 1994; 31: 900. doi:10.1136/jmg.31.11.900 [PDF] [Request Permissions]

	The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics Andrew P Read J Med Genet 1994; 31: 900. doi:10.1136/jmg.31.11.900-a [PDF] [Request Permissions]

	Chromosomes: A Synthesis A Schinzel J Med Genet 1994; 31: 900. doi:10.1136/jmg.31.11.900-b [PDF] [Request Permissions]

	Genes V Alistair Stewart J Med Genet 1994; 31: 900-901. doi:10.1136/jmg.31.11.900-c [PDF] [Request Permissions]

	Molecular Genetics of Sex Determination Alan J Schafer J Med Genet 1994; 31: 901. doi:10.1136/jmg.31.11.901 [PDF] [Request Permissions]

	Human Cytogenetics Database M Creasy and D Ravine J Med Genet 1994; 31: 901-902. doi:10.1136/jmg.31.11.901-a [PDF] [Request Permissions]

	Understanding Genetics: A Molecular Approach David Rubinsztein J Med Genet 1994; 31: 902. doi:10.1136/jmg.31.11.902 [PDF] [Request Permissions]

	Culture, kinship and genes Angus Clarke J Med Genet 1994; 31: 893-894. doi:10.1136/jmg.31.11.893 [PDF] [Request Permissions]

	Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis. J W Keeling and I Kjaer J Med Genet 1994; 31: 823-829. doi:10.1136/jmg.31.11.823 [Abstract] [PDF] [Request Permissions]

	Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome. L H Seaver, J W Pierpont, R P Erickson, R L Donnerstein, and S B Cassidy J Med Genet 1994; 31: 830-834. doi:10.1136/jmg.31.11.830 [Abstract] [PDF] [Request Permissions]

	Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. L C Wilson, M E Oude Luttikhuis, P T Clayton, W D Fraser, and R C Trembath J Med Genet 1994; 31: 835-839. doi:10.1136/jmg.31.11.835 [Abstract] [PDF] [Request Permissions]

	Possible role of imprinting in the Turner phenotype. C E Chu, M D Donaldson, C J Kelnar, P J Smail, S A Greene, W F Paterson, and J M Connor J Med Genet 1994; 31: 840-842. doi:10.1136/jmg.31.11.840 [Abstract] [PDF] [Request Permissions]

	Deletions in the 5' region of dystrophin and resulting phenotypes. F Muntoni, P Gobbi, C Sewry, T Sherratt, J Taylor, S K Sandhu, S Abbs, R Roberts, S V Hodgson, and M Bobrow J Med Genet 1994; 31: 843-847. doi:10.1136/jmg.31.11.843 [Abstract] [PDF] [Request Permissions]

	Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. M A Aldred, P W Teague, M Jay, S Bundey, R M Redmond, B Jay, A C Bird, S S Bhattacharya, and A F Wright J Med Genet 1994; 31: 848-852. doi:10.1136/jmg.31.11.848 [Abstract] [PDF] [Request Permissions]

	Neurofibromatosis type 1 in Israel: survey of young adults. B Z Garty, A Laor, and Y L Danon J Med Genet 1994; 31: 853-857. doi:10.1136/jmg.31.11.853 [Abstract] [PDF] [Request Permissions]

	Genetic study of congenital heart defects in Northern Ireland (1974-1978). E J Hanna, N C Nevin, and J Nelson J Med Genet 1994; 31: 858-863. doi:10.1136/jmg.31.11.858 [Abstract] [PDF] [Request Permissions]

	Counselling following diagnosis of a fetal abnormality: the differing approaches of obstetricians, clinical geneticists, and genetic nurses. T Marteau, H Drake, and M Bobrow J Med Genet 1994; 31: 864-867. doi:10.1136/jmg.31.11.864 [Abstract] [PDF] [Request Permissions]

	Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families. R A Gibson, D Ford, S Jansen, A Savoia, C Havenga, R D Milner, T J de Ravel, R J Cohn, S E Ball, and I Roberts J Med Genet 1994; 31: 868-871. doi:10.1136/jmg.31.11.868 [Abstract] [PDF] [Request Permissions]

	Trinucleotide repeat length and progression of illness in Huntington's disease. K Kieburtz, M MacDonald, C Shih, A Feigin, K Steinberg, K Bordwell, C Zimmerman, J Srinidhi, J Sotack, and J Gusella J Med Genet 1994; 31: 872-874. doi:10.1136/jmg.31.11.872 [Abstract] [PDF] [Request Permissions]

	Pyruvate dehydrogenase deficiency. G K Brown, L J Otero, M LeGris, and R M Brown J Med Genet 1994; 31: 875-879. doi:10.1136/jmg.31.11.875 [PDF] [Request Permissions]

	Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. F Schiavon, M L Mostacciuolo, F Saad, L Merlini, G Siciliano, C Angelini, and G A Danieli J Med Genet 1994; 31: 880-883. doi:10.1136/jmg.31.11.880 [Abstract] [PDF] [Request Permissions]

	Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis. R S Houlston, R M Renshaw, R S James, R Ironton, and I K Temple J Med Genet 1994; 31: 884-887. doi:10.1136/jmg.31.11.884 [Abstract] [PDF] [Request Permissions]

	APC mutation associated with late onset of familial adenomatous polyposis. J Smith-Ravin, K Pack, S Hodgson, S K Tay, R Phillips, and W Bodmer J Med Genet 1994; 31: 888-890. doi:10.1136/jmg.31.11.888 [Abstract] [PDF] [Request Permissions]

	High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient. C Daumerie, N Lannoy, J P Squifflet, G Verellen, and C Verellen-Dumoulin J Med Genet 1994; 31: 891-892. doi:10.1136/jmg.31.11.891 [Abstract] [PDF] [Request Permissions]

	Forensic medicine, PCR, and Bayesian approach. F Taroni and C Champod J Med Genet 1994; 31: 896. doi:10.1136/jmg.31.11.896 [PDF] [Request Permissions]

	The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome. M A Sabry J Med Genet 1994; 31: 897. doi:10.1136/jmg.31.11.897 [PDF] [Request Permissions]

	No association between dopamine D4 receptor polymorphism and manic depressive illness. I Pérez de Castro, P Torres, J Fernández-Piqueras, J Saiz-Ruiz, and C Llinares J Med Genet 1994; 31: 897-898. doi:10.1136/jmg.31.11.897-a [PDF] [Request Permissions]

	3-M syndrome and intracerebral aneurysms. R C Hennekam, M Limburg, and G Pals J Med Genet 1994; 31: 898. doi:10.1136/jmg.31.11.898 [PDF] [Request Permissions]