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November 1997 (Volume 34, Number 11). [Index by author]

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Abstracts

Medical genetics: advances in brief: Population genetics of BRCA1 and BRCA2
Frances Flinter
J Med Genet 1997; 34: 957. doi:10.1136/jmg.34.11.957 [PDF] [Request Permissions]

Medical genetics: advances in brief: Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
Evan Reid
J Med Genet 1997; 34: 957. doi:10.1136/jmg.34.11.957-a [PDF] [Request Permissions]

Medical genetics: advances in brief
David O Robinson
J Med Genet 1997; 34: 957. doi:10.1136/jmg.34.11.957-b [PDF] [Request Permissions]

Book Reviews

Cell Therapy
Stephen Devereux
J Med Genet 1997; 34: 959. doi:10.1136/jmg.34.11.959 [PDF] [Request Permissions]

DNA and Protein Sequence Analysis
Jenny Barna
J Med Genet 1997; 34: 959-960. doi:10.1136/jmg.34.11.959-a [PDF] [Request Permissions]

Research Article

Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene.
L Stuppia, V Gatta, G Mastroprimiano, F Pompetti, G Calabrese, P Guanciali Franchi, E Morizio, R Mingarelli, M Nicolai, R Tenaglia, L Improta, V Sforza, S Bisceglia, and G Palka
J Med Genet 1997; 34: 881-883. doi:10.1136/jmg.34.11.881 [Abstract] [PDF] [Request Permissions]

Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families.
U Hamann, M Häner, U Stosiek, G Bastert, and R J Scott
J Med Genet 1997; 34: 884-888. doi:10.1136/jmg.34.11.884 [Abstract] [PDF] [Request Permissions]

Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.
M Sessa, R Nemni, A Quattrini, U Del Carro, L Wrabetz, and N Canal
J Med Genet 1997; 34: 889-892. doi:10.1136/jmg.34.11.889 [Abstract] [PDF] [Request Permissions]

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
L Kozák, M Blazková, V Kuhrová, A Pijácková, S Ruzicková, and S St'astná
J Med Genet 1997; 34: 893-898. doi:10.1136/jmg.34.11.893 [Abstract] [PDF] [Request Permissions]

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.
B Benzacken, J P Siffroi, C Le Bourhis, K Krabchi, N Joyé, F Maschino, F Viguié, J Soulié, M Gonzales, G Migné, M Bucourt, F Encha-Razavi, L Carbillon, and J L Taillemite
J Med Genet 1997; 34: 899-903. doi:10.1136/jmg.34.11.899 [Abstract] [PDF] [Request Permissions]

Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.
J C Gardner, R Goliath, D Viljoen, S Sellars, G Cortopassi, T Hutchin, J Greenberg, and P Beighton
J Med Genet 1997; 34: 904-906. doi:10.1136/jmg.34.11.904 [Abstract] [PDF] [Request Permissions]

DNA testing for fragile X syndrome: implications for parents and family.
M A van Rijn, B B de Vries, A Tibben, A M van den Ouweland, D J Halley, and M F Niermeijer
J Med Genet 1997; 34: 907-911. doi:10.1136/jmg.34.11.907 [Abstract] [PDF] [Request Permissions]

Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique.
C Mackie-Ogilvie, K Waddle, J Mandeville, M J Seller, and Z Docherty
J Med Genet 1997; 34: 912-916. doi:10.1136/jmg.34.11.912 [Abstract] [PDF] [Request Permissions]

Prader-Willi syndrome.
S B Cassidy
J Med Genet 1997; 34: 917-923. doi:10.1136/jmg.34.11.917 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
M Losekoot, E Hoogendoorn, R Olmer, C C Jansen, J C Oosterwijk, A M van den Ouweland, D J Halley, S T Warren, R Willemsen, B A Oostra, and E Bakker
J Med Genet 1997; 34: 924-926. doi:10.1136/jmg.34.11.924 [Abstract] [PDF] [Request Permissions]

Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.
M C Digilio, B Marino, A Giannotti, and B Dallapiccola
J Med Genet 1997; 34: 927-929. doi:10.1136/jmg.34.11.927 [Abstract] [PDF] [Request Permissions]

Paternal transmission of congenital myotonic dystrophy.
C E de Die-Smulders, H J Smeets, W Loots, H B Anten, J F Mirandolle, J P Geraedts, and C J Höweler
J Med Genet 1997; 34: 930-933. doi:10.1136/jmg.34.11.930 [Abstract] [PDF] [Request Permissions]

Misleading linkage results in an NF2 presymptomatic test owing to mosaicism.
E K Bijlsma, A J Wallace, and D G Evans
J Med Genet 1997; 34: 934-936. doi:10.1136/jmg.34.11.934 [Abstract] [PDF] [Request Permissions]

Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?
R Gulati, S R Phadke, and S S Agarwal
J Med Genet 1997; 34: 937-938. doi:10.1136/jmg.34.11.937 [Abstract] [PDF] [Request Permissions]

Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
G J Lee-Chen and T R Wang
J Med Genet 1997; 34: 939-941. doi:10.1136/jmg.34.11.939 [Abstract] [PDF] [Request Permissions]

Radial aplasia and chromosome 22q11 deletion.
M C Digilio, A Giannotti, B Marino, A M Guadagni, M Orzalesi, and B Dallapiccola
J Med Genet 1997; 34: 942-944. doi:10.1136/jmg.34.11.942 [Abstract] [PDF] [Request Permissions]

Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.
T Mattina, M Pierluigi, D Mazzone, S Scardilli, C Perfumo, and F Mollica
J Med Genet 1997; 34: 945-948. doi:10.1136/jmg.34.11.945 [Abstract] [PDF] [Request Permissions]

Germline duplication of chromosome 2p and neuroblastoma.
J S Patel, J Pearson, L Willatt, T Andrews, R Beach, and A Green
J Med Genet 1997; 34: 949-951. doi:10.1136/jmg.34.11.949 [Abstract] [PDF] [Request Permissions]

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).
M Masuno, K Imaizumi, Y Fukushima, Y Tanaka, T Ishii, M Nakamura, and Y Kuroki
J Med Genet 1997; 34: 952-954. doi:10.1136/jmg.34.11.952 [Abstract] [PDF] [Request Permissions]

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.
P E Taschner, N de Vos, and M H Breuning
J Med Genet 1997; 34: 955-956. doi:10.1136/jmg.34.11.955 [Abstract] [PDF] [Request Permissions]

Methionine synthase and neural tube defects.
K Morrison, Y H Edwards, S A Lynch, J Burn, F Hol, and E Mariman
J Med Genet 1997; 34: 958. doi:10.1136/jmg.34.11.958 [PDF] [Request Permissions]

Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion?
R Pogue, T Jackson, B Sayli, A Curtis, and K M Bushby
J Med Genet 1997; 34: 958-959. doi:10.1136/jmg.34.11.958-a [PDF] [Request Permissions]

China's eugenics law: position statement of the Canadian College of Medical Geneticists.
J Med Genet 1997; 34: 960. doi:10.1136/jmg.34.11.960 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Population genetics of BRCA1 and BRCA2 Frances Flinter J Med Genet 1997; 34: 957. doi:10.1136/jmg.34.11.957 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion Evan Reid J Med Genet 1997; 34: 957. doi:10.1136/jmg.34.11.957-a [PDF] [Request Permissions]

	Medical genetics: advances in brief David O Robinson J Med Genet 1997; 34: 957. doi:10.1136/jmg.34.11.957-b [PDF] [Request Permissions]

	Cell Therapy Stephen Devereux J Med Genet 1997; 34: 959. doi:10.1136/jmg.34.11.959 [PDF] [Request Permissions]

	DNA and Protein Sequence Analysis Jenny Barna J Med Genet 1997; 34: 959-960. doi:10.1136/jmg.34.11.959-a [PDF] [Request Permissions]

	Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene. L Stuppia, V Gatta, G Mastroprimiano, F Pompetti, G Calabrese, P Guanciali Franchi, E Morizio, R Mingarelli, M Nicolai, R Tenaglia, L Improta, V Sforza, S Bisceglia, and G Palka J Med Genet 1997; 34: 881-883. doi:10.1136/jmg.34.11.881 [Abstract] [PDF] [Request Permissions]

	Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. U Hamann, M Häner, U Stosiek, G Bastert, and R J Scott J Med Genet 1997; 34: 884-888. doi:10.1136/jmg.34.11.884 [Abstract] [PDF] [Request Permissions]

	Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis. M Sessa, R Nemni, A Quattrini, U Del Carro, L Wrabetz, and N Canal J Med Genet 1997; 34: 889-892. doi:10.1136/jmg.34.11.889 [Abstract] [PDF] [Request Permissions]

	Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. L Kozák, M Blazková, V Kuhrová, A Pijácková, S Ruzicková, and S St'astná J Med Genet 1997; 34: 893-898. doi:10.1136/jmg.34.11.893 [Abstract] [PDF] [Request Permissions]

	Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly. B Benzacken, J P Siffroi, C Le Bourhis, K Krabchi, N Joyé, F Maschino, F Viguié, J Soulié, M Gonzales, G Migné, M Bucourt, F Encha-Razavi, L Carbillon, and J L Taillemite J Med Genet 1997; 34: 899-903. doi:10.1136/jmg.34.11.899 [Abstract] [PDF] [Request Permissions]

	Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. J C Gardner, R Goliath, D Viljoen, S Sellars, G Cortopassi, T Hutchin, J Greenberg, and P Beighton J Med Genet 1997; 34: 904-906. doi:10.1136/jmg.34.11.904 [Abstract] [PDF] [Request Permissions]

	DNA testing for fragile X syndrome: implications for parents and family. M A van Rijn, B B de Vries, A Tibben, A M van den Ouweland, D J Halley, and M F Niermeijer J Med Genet 1997; 34: 907-911. doi:10.1136/jmg.34.11.907 [Abstract] [PDF] [Request Permissions]

	Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique. C Mackie-Ogilvie, K Waddle, J Mandeville, M J Seller, and Z Docherty J Med Genet 1997; 34: 912-916. doi:10.1136/jmg.34.11.912 [Abstract] [PDF] [Request Permissions]

	Prader-Willi syndrome. S B Cassidy J Med Genet 1997; 34: 917-923. doi:10.1136/jmg.34.11.917 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. M Losekoot, E Hoogendoorn, R Olmer, C C Jansen, J C Oosterwijk, A M van den Ouweland, D J Halley, S T Warren, R Willemsen, B A Oostra, and E Bakker J Med Genet 1997; 34: 924-926. doi:10.1136/jmg.34.11.924 [Abstract] [PDF] [Request Permissions]

	Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome. M C Digilio, B Marino, A Giannotti, and B Dallapiccola J Med Genet 1997; 34: 927-929. doi:10.1136/jmg.34.11.927 [Abstract] [PDF] [Request Permissions]

	Paternal transmission of congenital myotonic dystrophy. C E de Die-Smulders, H J Smeets, W Loots, H B Anten, J F Mirandolle, J P Geraedts, and C J Höweler J Med Genet 1997; 34: 930-933. doi:10.1136/jmg.34.11.930 [Abstract] [PDF] [Request Permissions]

	Misleading linkage results in an NF2 presymptomatic test owing to mosaicism. E K Bijlsma, A J Wallace, and D G Evans J Med Genet 1997; 34: 934-936. doi:10.1136/jmg.34.11.934 [Abstract] [PDF] [Request Permissions]

	Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? R Gulati, S R Phadke, and S S Agarwal J Med Genet 1997; 34: 937-938. doi:10.1136/jmg.34.11.937 [Abstract] [PDF] [Request Permissions]

	Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. G J Lee-Chen and T R Wang J Med Genet 1997; 34: 939-941. doi:10.1136/jmg.34.11.939 [Abstract] [PDF] [Request Permissions]

	Radial aplasia and chromosome 22q11 deletion. M C Digilio, A Giannotti, B Marino, A M Guadagni, M Orzalesi, and B Dallapiccola J Med Genet 1997; 34: 942-944. doi:10.1136/jmg.34.11.942 [Abstract] [PDF] [Request Permissions]

	Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings. T Mattina, M Pierluigi, D Mazzone, S Scardilli, C Perfumo, and F Mollica J Med Genet 1997; 34: 945-948. doi:10.1136/jmg.34.11.945 [Abstract] [PDF] [Request Permissions]

	Germline duplication of chromosome 2p and neuroblastoma. J S Patel, J Pearson, L Willatt, T Andrews, R Beach, and A Green J Med Genet 1997; 34: 949-951. doi:10.1136/jmg.34.11.949 [Abstract] [PDF] [Request Permissions]

	Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2). M Masuno, K Imaizumi, Y Fukushima, Y Tanaka, T Ishii, M Nakamura, and Y Kuroki J Med Genet 1997; 34: 952-954. doi:10.1136/jmg.34.11.952 [Abstract] [PDF] [Request Permissions]

	Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. P E Taschner, N de Vos, and M H Breuning J Med Genet 1997; 34: 955-956. doi:10.1136/jmg.34.11.955 [Abstract] [PDF] [Request Permissions]

	Methionine synthase and neural tube defects. K Morrison, Y H Edwards, S A Lynch, J Burn, F Hol, and E Mariman J Med Genet 1997; 34: 958. doi:10.1136/jmg.34.11.958 [PDF] [Request Permissions]

	Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion? R Pogue, T Jackson, B Sayli, A Curtis, and K M Bushby J Med Genet 1997; 34: 958-959. doi:10.1136/jmg.34.11.958-a [PDF] [Request Permissions]

	China's eugenics law: position statement of the Canadian College of Medical Geneticists. J Med Genet 1997; 34: 960. doi:10.1136/jmg.34.11.960 [PDF] [Request Permissions]