J Med Genet -- Table of Contents (32 [12])

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December 1995 (Volume 32, Number 12). [Index by author]

		Abstracts Book Reviews Letters to the Editor Research Article

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Abstracts

Medical genetics: advances in brief: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
Frances Flinter
J Med Genet 1995; 32: 996. doi:10.1136/jmg.32.12.996 [PDF] [Request Permissions]

Medical genetics: advances in brief
John C K Barber
J Med Genet 1995; 32: 996. doi:10.1136/jmg.32.12.996-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
Angela Barnicoat
J Med Genet 1995; 32: 996. doi:10.1136/jmg.32.12.996-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region
Frances Flinter
J Med Genet 1995; 32: 996. doi:10.1136/jmg.32.12.996-c [PDF] [Request Permissions]

Book Reviews

Prenatal Diagnosis: The Human Side
Lauren Kerzin-Storrar
J Med Genet 1995; 32: 998. doi:10.1136/jmg.32.12.998-a [PDF] [Request Permissions]

Friendly Fire: Explaining Autoimmune Disease
Jerry Lanchbury
J Med Genet 1995; 32: 998-999. doi:10.1136/jmg.32.12.998-b [PDF] [Request Permissions]

Secrets in the Genes
A Caroline Berry
J Med Genet 1995; 32: 999. doi:10.1136/jmg.32.12.999 [PDF] [Request Permissions]

The Molecular Genetics of Cancer
David Huen
J Med Genet 1995; 32: 999. doi:10.1136/jmg.32.12.999-a [PDF] [Request Permissions]

Familial Adenomatous Polyposis and Other Polyposis Syndromes
Gareth Evans
J Med Genet 1995; 32: 999-1000. doi:10.1136/jmg.32.12.999-b [PDF] [Request Permissions]

Animals with Novel Genes
Dominic J Wells
J Med Genet 1995; 32: 1000. doi:10.1136/jmg.32.12.1000 [PDF] [Request Permissions]

Letters to the Editor

Reply
E Janet Tawn
J Med Genet 1995; 32: 997. doi:10.1136/jmg.32.12.997-a [PDF] [Request Permissions]

Research Article

Psychological aspects of von Recklinghausen neurofibromatosis (NF1)
S E Mouridsen and S A Sørensen
J Med Genet 1995; 32: 921-924. doi:10.1136/jmg.32.12.921 [Abstract] [PDF] [Request Permissions]

X inactivation of the FMR1 fragile X mental retardation gene.
C U Kirchgessner, S T Warren, and H F Willard
J Med Genet 1995; 32: 925-929. doi:10.1136/jmg.32.12.925 [Abstract] [PDF] [Request Permissions]

Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes.
I Stec, W Kress, G Meng, B Müller, C R Müller, and T Grimm
J Med Genet 1995; 32: 930-933. doi:10.1136/jmg.32.12.930 [Abstract] [PDF] [Request Permissions]

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
C Eng, P A Crossey, L M Mulligan, C S Healey, C Houghton, A Prowse, S L Chew, P L Dahia, J L O'Riordan, and S P Toledo
J Med Genet 1995; 32: 934-937. doi:10.1136/jmg.32.12.934 [Abstract] [PDF] [Request Permissions]

Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.
T Kishida, F Chen, M I Lerman, and B Zbar
J Med Genet 1995; 32: 938-941. doi:10.1136/jmg.32.12.938 [Abstract] [PDF] [Request Permissions]

An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
J M Varley, G McGown, M Thorncroft, K J Tricker, M D Teare, M F Santibanez-Koref, J Martin, J M Birch, and D G Evans
J Med Genet 1995; 32: 942-945. doi:10.1136/jmg.32.12.942 [Abstract] [PDF] [Request Permissions]

Ophthalmic genetics: a genealogical guide to sources in England and Wales.
M Jay
J Med Genet 1995; 32: 946-950. doi:10.1136/jmg.32.12.946 [Abstract] [PDF] [Request Permissions]

No evidence of genetic heterogeneity in dominant optic atrophy.
D Bonneau, E Souied, S Gerber, J M Rozet, E D'Haens, H Journel, G Plessis, J Weissenbach, A Munnich, and J Kaplan
J Med Genet 1995; 32: 951-953. doi:10.1136/jmg.32.12.951 [Abstract] [PDF] [Request Permissions]

Cluster headache is an autosomal dominantly inherited disorder in some families: a complex segregation analysis.
M B Russell, P G Andersson, L L Thomsen, and L Iselius
J Med Genet 1995; 32: 954-956. doi:10.1136/jmg.32.12.954 [Abstract] [PDF] [Request Permissions]

Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.
A Schinzel, I Lorda-Sanchez, F Binkert, N P Carter, C E Bebb, M A Ferguson-Smith, U Eiholzer, M Zachmann, and W P Robinson
J Med Genet 1995; 32: 957-961. doi:10.1136/jmg.32.12.957 [Abstract] [PDF] [Request Permissions]

Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.
T Kuznetzova, A Baranov, N Schwed, T Ivaschenko, P Malet, M Giollant, G A Savitsky, and V Baranov
J Med Genet 1995; 32: 962-967. doi:10.1136/jmg.32.12.962 [Abstract] [PDF] [Request Permissions]

Further delineation of the partial proximal trisomy 10q syndrome.
C M Aalfs, J M Hoovers, M A Nieste-Otter, M M Mannens, R C Hennekam, and N J Leschot
J Med Genet 1995; 32: 968-971. doi:10.1136/jmg.32.12.968 [Abstract] [PDF] [Request Permissions]

The Irish cystic fibrosis database.
S M Cashman, A Patino, M G Delgado, L Byrne, B Denham, and M De Arce
J Med Genet 1995; 32: 972-975. doi:10.1136/jmg.32.12.972 [Abstract] [PDF] [Request Permissions]

Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.
P Guldberg, K F Henriksen, I Sipilä, F Güttler, and A de la Chapelle
J Med Genet 1995; 32: 976-978. doi:10.1136/jmg.32.12.976 [Abstract] [PDF] [Request Permissions]

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
G Lundin, J Hashemi, Y Floderus, S Thunell, E Sagen, A Laegreid, W Wassif, T Peters, and M Anvret
J Med Genet 1995; 32: 979-981. doi:10.1136/jmg.32.12.979 [Abstract] [PDF] [Request Permissions]

A large multisite cancer family is linked to BRCA2.
P Tonin, P Ghadirian, C Phelan, G M Lenoir, H T Lynch, F Letendre, D Belanger, M Monté, and S A Narod
J Med Genet 1995; 32: 982-984. doi:10.1136/jmg.32.12.982 [Abstract] [PDF] [Request Permissions]

Familial café au lait spots: a variant of neurofibromatosis type 1.
D Abeliovich, Z Gelman-Kohan, S Silverstein, I Lerer, J Chemke, S Merin, and J Zlotogora
J Med Genet 1995; 32: 985-986. doi:10.1136/jmg.32.12.985 [Abstract] [PDF] [Request Permissions]

Partial disomy of Xp and the presence of SRY in a phenotypic female.
S Bajalica, E Blennow, A Tsezou, A Galla-Voumvouraki, M Alevizaki, C Sinaniotis, and S Kitsiou-Tzeli
J Med Genet 1995; 32: 987-990. doi:10.1136/jmg.32.12.987 [Abstract] [PDF] [Request Permissions]

Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.
M B Qumsiyeh, A Tomasi, and M Taslimi
J Med Genet 1995; 32: 991-993. doi:10.1136/jmg.32.12.991 [Abstract] [PDF] [Request Permissions]

Del(3) (p25.3) without phenotypic effect.
L A Knight, M H Yong, M Tan, and I S Ng
J Med Genet 1995; 32: 994-995. doi:10.1136/jmg.32.12.994 [Abstract] [PDF] [Request Permissions]

Leukaemia and Sellafield: is there a heritable link?
G M Taylor and E J Tawn
J Med Genet 1995; 32: 997. doi:10.1136/jmg.32.12.997 [PDF] [Request Permissions]

Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome?
V M Der Kaloustian, A M Elliott, and P Eydoux
J Med Genet 1995; 32: 998. doi:10.1136/jmg.32.12.998 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test Frances Flinter J Med Genet 1995; 32: 996. doi:10.1136/jmg.32.12.996 [PDF] [Request Permissions]

	Medical genetics: advances in brief John C K Barber J Med Genet 1995; 32: 996. doi:10.1136/jmg.32.12.996-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy Angela Barnicoat J Med Genet 1995; 32: 996. doi:10.1136/jmg.32.12.996-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region Frances Flinter J Med Genet 1995; 32: 996. doi:10.1136/jmg.32.12.996-c [PDF] [Request Permissions]

	Prenatal Diagnosis: The Human Side Lauren Kerzin-Storrar J Med Genet 1995; 32: 998. doi:10.1136/jmg.32.12.998-a [PDF] [Request Permissions]

	Friendly Fire: Explaining Autoimmune Disease Jerry Lanchbury J Med Genet 1995; 32: 998-999. doi:10.1136/jmg.32.12.998-b [PDF] [Request Permissions]

	Secrets in the Genes A Caroline Berry J Med Genet 1995; 32: 999. doi:10.1136/jmg.32.12.999 [PDF] [Request Permissions]

	The Molecular Genetics of Cancer David Huen J Med Genet 1995; 32: 999. doi:10.1136/jmg.32.12.999-a [PDF] [Request Permissions]

	Familial Adenomatous Polyposis and Other Polyposis Syndromes Gareth Evans J Med Genet 1995; 32: 999-1000. doi:10.1136/jmg.32.12.999-b [PDF] [Request Permissions]

	Animals with Novel Genes Dominic J Wells J Med Genet 1995; 32: 1000. doi:10.1136/jmg.32.12.1000 [PDF] [Request Permissions]

	Reply E Janet Tawn J Med Genet 1995; 32: 997. doi:10.1136/jmg.32.12.997-a [PDF] [Request Permissions]

	Psychological aspects of von Recklinghausen neurofibromatosis (NF1) S E Mouridsen and S A Sørensen J Med Genet 1995; 32: 921-924. doi:10.1136/jmg.32.12.921 [Abstract] [PDF] [Request Permissions]

	X inactivation of the FMR1 fragile X mental retardation gene. C U Kirchgessner, S T Warren, and H F Willard J Med Genet 1995; 32: 925-929. doi:10.1136/jmg.32.12.925 [Abstract] [PDF] [Request Permissions]

	Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. I Stec, W Kress, G Meng, B Müller, C R Müller, and T Grimm J Med Genet 1995; 32: 930-933. doi:10.1136/jmg.32.12.930 [Abstract] [PDF] [Request Permissions]

	Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. C Eng, P A Crossey, L M Mulligan, C S Healey, C Houghton, A Prowse, S L Chew, P L Dahia, J L O'Riordan, and S P Toledo J Med Genet 1995; 32: 934-937. doi:10.1136/jmg.32.12.934 [Abstract] [PDF] [Request Permissions]

	Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method. T Kishida, F Chen, M I Lerman, and B Zbar J Med Genet 1995; 32: 938-941. doi:10.1136/jmg.32.12.938 [Abstract] [PDF] [Request Permissions]

	An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. J M Varley, G McGown, M Thorncroft, K J Tricker, M D Teare, M F Santibanez-Koref, J Martin, J M Birch, and D G Evans J Med Genet 1995; 32: 942-945. doi:10.1136/jmg.32.12.942 [Abstract] [PDF] [Request Permissions]

	Ophthalmic genetics: a genealogical guide to sources in England and Wales. M Jay J Med Genet 1995; 32: 946-950. doi:10.1136/jmg.32.12.946 [Abstract] [PDF] [Request Permissions]

	No evidence of genetic heterogeneity in dominant optic atrophy. D Bonneau, E Souied, S Gerber, J M Rozet, E D'Haens, H Journel, G Plessis, J Weissenbach, A Munnich, and J Kaplan J Med Genet 1995; 32: 951-953. doi:10.1136/jmg.32.12.951 [Abstract] [PDF] [Request Permissions]

	Cluster headache is an autosomal dominantly inherited disorder in some families: a complex segregation analysis. M B Russell, P G Andersson, L L Thomsen, and L Iselius J Med Genet 1995; 32: 954-956. doi:10.1136/jmg.32.12.954 [Abstract] [PDF] [Request Permissions]

	Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting. A Schinzel, I Lorda-Sanchez, F Binkert, N P Carter, C E Bebb, M A Ferguson-Smith, U Eiholzer, M Zachmann, and W P Robinson J Med Genet 1995; 32: 957-961. doi:10.1136/jmg.32.12.957 [Abstract] [PDF] [Request Permissions]

	Cytogenetic and molecular findings in patients with Turner's syndrome stigmata. T Kuznetzova, A Baranov, N Schwed, T Ivaschenko, P Malet, M Giollant, G A Savitsky, and V Baranov J Med Genet 1995; 32: 962-967. doi:10.1136/jmg.32.12.962 [Abstract] [PDF] [Request Permissions]

	Further delineation of the partial proximal trisomy 10q syndrome. C M Aalfs, J M Hoovers, M A Nieste-Otter, M M Mannens, R C Hennekam, and N J Leschot J Med Genet 1995; 32: 968-971. doi:10.1136/jmg.32.12.968 [Abstract] [PDF] [Request Permissions]

	The Irish cystic fibrosis database. S M Cashman, A Patino, M G Delgado, L Byrne, B Denham, and M De Arce J Med Genet 1995; 32: 972-975. doi:10.1136/jmg.32.12.972 [Abstract] [PDF] [Request Permissions]

	Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. P Guldberg, K F Henriksen, I Sipilä, F Güttler, and A de la Chapelle J Med Genet 1995; 32: 976-978. doi:10.1136/jmg.32.12.976 [Abstract] [PDF] [Request Permissions]

	Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. G Lundin, J Hashemi, Y Floderus, S Thunell, E Sagen, A Laegreid, W Wassif, T Peters, and M Anvret J Med Genet 1995; 32: 979-981. doi:10.1136/jmg.32.12.979 [Abstract] [PDF] [Request Permissions]

	A large multisite cancer family is linked to BRCA2. P Tonin, P Ghadirian, C Phelan, G M Lenoir, H T Lynch, F Letendre, D Belanger, M Monté, and S A Narod J Med Genet 1995; 32: 982-984. doi:10.1136/jmg.32.12.982 [Abstract] [PDF] [Request Permissions]

	Familial café au lait spots: a variant of neurofibromatosis type 1. D Abeliovich, Z Gelman-Kohan, S Silverstein, I Lerer, J Chemke, S Merin, and J Zlotogora J Med Genet 1995; 32: 985-986. doi:10.1136/jmg.32.12.985 [Abstract] [PDF] [Request Permissions]

	Partial disomy of Xp and the presence of SRY in a phenotypic female. S Bajalica, E Blennow, A Tsezou, A Galla-Voumvouraki, M Alevizaki, C Sinaniotis, and S Kitsiou-Tzeli J Med Genet 1995; 32: 987-990. doi:10.1136/jmg.32.12.987 [Abstract] [PDF] [Request Permissions]

	Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques. M B Qumsiyeh, A Tomasi, and M Taslimi J Med Genet 1995; 32: 991-993. doi:10.1136/jmg.32.12.991 [Abstract] [PDF] [Request Permissions]

	Del(3) (p25.3) without phenotypic effect. L A Knight, M H Yong, M Tan, and I S Ng J Med Genet 1995; 32: 994-995. doi:10.1136/jmg.32.12.994 [Abstract] [PDF] [Request Permissions]

	Leukaemia and Sellafield: is there a heritable link? G M Taylor and E J Tawn J Med Genet 1995; 32: 997. doi:10.1136/jmg.32.12.997 [PDF] [Request Permissions]

	Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome? V M Der Kaloustian, A M Elliott, and P Eydoux J Med Genet 1995; 32: 998. doi:10.1136/jmg.32.12.998 [PDF] [Request Permissions]