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January 1998 (Volume 35, Number 1). [Index by author]

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Abstracts

Medical genetics: advances in brief: Frataxin gene of Friedreich's ataxia is targeted to mitochondria
Evan Reid
J Med Genet 1998; 35: 81. doi:10.1136/jmg.35.1.81 [PDF] [Request Permissions]

Medical genetics: advances in brief: Relationship between lifetime ovulatory cycles and over-expression of mutant P53 in epithelial ovarian cancer
Jonathon Gray
J Med Genet 1998; 35: 81. doi:10.1136/jmg.35.1.81-a [PDF] [Request Permissions]

Medical genetics: advances in brief
David O Robinson
J Med Genet 1998; 35: 81. doi:10.1136/jmg.35.1.81-b [PDF] [Request Permissions]

Book Reviews

Neurofibromatosis Type 1 in Childhood
Evan Reid
J Med Genet 1998; 35: 87. doi:10.1136/jmg.35.1.87 [PDF] [Request Permissions]

Protein Targeting
Juliet A Ellis
J Med Genet 1998; 35: 87. doi:10.1136/jmg.35.1.87-a [PDF] [Request Permissions]

Research Article

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.
C F Inglehearn, E E Tarttelin, C Plant, R E Peacock, M al-Maghtheh, E Vithana, A C Bird, and S S Bhattacharya
J Med Genet 1998; 35: 1-5. doi:10.1136/jmg.35.1.1 [Abstract] [PDF] [Request Permissions]

Variants of alpha 1-proteinase inhibitor in black and white South African patients with focal glomerulosclerosis and minimal change nephrotic syndrome.
A C Halkas, M C Gaillard, P D Thomson, S L Green, H Ludewick, and U Kala
J Med Genet 1998; 35: 6-9. doi:10.1136/jmg.35.1.6 [Abstract] [PDF] [Request Permissions]

An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews.
F Lalloo, S Cochrane, B Bulman, J Varley, R Elles, A Howell, and D G Evans
J Med Genet 1998; 35: 10-12. doi:10.1136/jmg.35.1.10 [Abstract] [PDF] [Request Permissions]

Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease.
K D MacDermot, A K Saggar-Malik, D L Economides, and S Jeffery
J Med Genet 1998; 35: 13-16. doi:10.1136/jmg.35.1.13 [Abstract] [PDF] [Request Permissions]

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.
S F Slaney, I J Chalmers, N A Affara, and L S Chitty
J Med Genet 1998; 35: 17-22. doi:10.1136/jmg.35.1.17 [Abstract] [PDF] [Request Permissions]

A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.
K Yamamoto, S Ikeda, N Hanyu, S Takeda, and N Yanagisawa
J Med Genet 1998; 35: 23-30. doi:10.1136/jmg.35.1.23 [Abstract] [PDF] [Request Permissions]

Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
M A Sabry, M Zaki, S J Abul Hassan, D G Ramadan, M A Abdel Rasool, S A al Awadi, and Q al Saleh
J Med Genet 1998; 35: 31-36. doi:10.1136/jmg.35.1.31 [Abstract] [PDF] [Request Permissions]

Chromosome specific comparative genome hybridisation for determining the origin of intrachromosomal duplications.
D K Griffin, D Sanoudou, E Adamski, C McGiffert, P O'Brien, J Wienberg, and M A Ferguson-Smith
J Med Genet 1998; 35: 37-41. doi:10.1136/jmg.35.1.37 [Abstract] [PDF] [Request Permissions]

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.
S Olschwang, D Markie, S Seal, K Neale, R Phillips, S Cottrell, I Ellis, S Hodgson, P Zauber, A Spigelman, T Iwama, S Loff, C McKeown, C Marchese, J Sampson, S Davies, I Talbot, J Wyke, G Thomas, W Bodmer, A Hemminki, E Avizienyte, A de la Chapelle, L Aaltonen, and I Tomlinson
J Med Genet 1998; 35: 42-44. doi:10.1136/jmg.35.1.42 [Abstract] [PDF] [Request Permissions]

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
H Kikuchi, A Takata, Y Akasaka, R Fukuzawa, H Yoneyama, Y Kurosawa, M Honda, Y Kamiyama, and J Hata
J Med Genet 1998; 35: 45-48. doi:10.1136/jmg.35.1.45 [Abstract] [PDF] [Request Permissions]

Atelosteogenesis type 2.
R Newbury-Ecob
J Med Genet 1998; 35: 49-53. doi:10.1136/jmg.35.1.49 [Abstract] [PDF] [Request Permissions]

Costello syndrome in two Brazilian children.
R Pratesi, M Santos, and I Ferrari
J Med Genet 1998; 35: 54-57. doi:10.1136/jmg.35.1.54 [Abstract] [PDF] [Request Permissions]

Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia).
H B Vassal, M Malone, A J Petros, and R M Winter
J Med Genet 1998; 35: 58-60. doi:10.1136/jmg.35.1.58 [Abstract] [PDF] [Request Permissions]

Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
A Berger, N Haschke, C Kohlhauser, G Amman, U Unterberger, and M Weninger
J Med Genet 1998; 35: 61-64. doi:10.1136/jmg.35.1.61 [Abstract] [PDF] [Request Permissions]

Kyphomelic dysplasia in two sib fetuses.
C P Chen, S R Chern, S L Shih, C Y Chuang, and F Y Huang
J Med Genet 1998; 35: 65-69. doi:10.1136/jmg.35.1.65 [Abstract] [PDF] [Request Permissions]

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
K Devriendt, L Standaert, C Van Hole, H Devlieger, and J P Fryns
J Med Genet 1998; 35: 70-71. doi:10.1136/jmg.35.1.70 [Abstract] [PDF] [Request Permissions]

Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.
J Davies, A Jaffé, and A Bush
J Med Genet 1998; 35: 72-74. doi:10.1136/jmg.35.1.72 [Abstract] [PDF] [Request Permissions]

Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
D Concolino, R Cinti, L Ferraro, M T Moricca, and P Strisciuglio
J Med Genet 1998; 35: 75-77. doi:10.1136/jmg.35.1.75 [Abstract] [PDF] [Request Permissions]

Intrachromosomal triplication of distal 7p.
H Rivera, L Bobadilla, A Rolon, J Kunz, and J A Crolla
J Med Genet 1998; 35: 78-80. doi:10.1136/jmg.35.1.78 [Abstract] [PDF] [Request Permissions]

Cystic fibrosis and mucins.
A Harris and C Reid
J Med Genet 1998; 35: 82-83. doi:10.1136/jmg.35.1.82 [PDF] [Request Permissions]

Chinese geneticists approach ethics.
X Mao
J Med Genet 1998; 35: 83. doi:10.1136/jmg.35.1.83 [PDF] [Request Permissions]

Familial gonadal tumours.
M Tischkowitz, D Pilz, and P S Harper
J Med Genet 1998; 35: 84. doi:10.1136/jmg.35.1.84 [PDF] [Request Permissions]

Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.
M H Liang, L J Wong, D Klein, B Shapiro, C M Bowman, E Hsu, and L J Wong
J Med Genet 1998; 35: 84-85. doi:10.1136/jmg.35.1.84-a [PDF] [Request Permissions]

Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy.
F Mansergh, T Meitinger, G Rodolph, P Humphries, and G J Farrar
J Med Genet 1998; 35: 85-86. doi:10.1136/jmg.35.1.85 [PDF] [Request Permissions]

Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?
K Okamoto, I M Morison, A E Reeve, N Tommerup, H R Wiedemann, and U Friedrich
J Med Genet 1998; 35: 86. doi:10.1136/jmg.35.1.86 [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Frataxin gene of Friedreich's ataxia is targeted to mitochondria Evan Reid J Med Genet 1998; 35: 81. doi:10.1136/jmg.35.1.81 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Relationship between lifetime ovulatory cycles and over-expression of mutant P53 in epithelial ovarian cancer Jonathon Gray J Med Genet 1998; 35: 81. doi:10.1136/jmg.35.1.81-a [PDF] [Request Permissions]

	Medical genetics: advances in brief David O Robinson J Med Genet 1998; 35: 81. doi:10.1136/jmg.35.1.81-b [PDF] [Request Permissions]

	Neurofibromatosis Type 1 in Childhood Evan Reid J Med Genet 1998; 35: 87. doi:10.1136/jmg.35.1.87 [PDF] [Request Permissions]

	Protein Targeting Juliet A Ellis J Med Genet 1998; 35: 87. doi:10.1136/jmg.35.1.87-a [PDF] [Request Permissions]

	A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity. C F Inglehearn, E E Tarttelin, C Plant, R E Peacock, M al-Maghtheh, E Vithana, A C Bird, and S S Bhattacharya J Med Genet 1998; 35: 1-5. doi:10.1136/jmg.35.1.1 [Abstract] [PDF] [Request Permissions]

	Variants of alpha 1-proteinase inhibitor in black and white South African patients with focal glomerulosclerosis and minimal change nephrotic syndrome. A C Halkas, M C Gaillard, P D Thomson, S L Green, H Ludewick, and U Kala J Med Genet 1998; 35: 6-9. doi:10.1136/jmg.35.1.6 [Abstract] [PDF] [Request Permissions]

	An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews. F Lalloo, S Cochrane, B Bulman, J Varley, R Elles, A Howell, and D G Evans J Med Genet 1998; 35: 10-12. doi:10.1136/jmg.35.1.10 [Abstract] [PDF] [Request Permissions]

	Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. K D MacDermot, A K Saggar-Malik, D L Economides, and S Jeffery J Med Genet 1998; 35: 13-16. doi:10.1136/jmg.35.1.13 [Abstract] [PDF] [Request Permissions]

	An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. S F Slaney, I J Chalmers, N A Affara, and L S Chitty J Med Genet 1998; 35: 17-22. doi:10.1136/jmg.35.1.17 [Abstract] [PDF] [Request Permissions]

	A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. K Yamamoto, S Ikeda, N Hanyu, S Takeda, and N Yanagisawa J Med Genet 1998; 35: 23-30. doi:10.1136/jmg.35.1.23 [Abstract] [PDF] [Request Permissions]

	Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. M A Sabry, M Zaki, S J Abul Hassan, D G Ramadan, M A Abdel Rasool, S A al Awadi, and Q al Saleh J Med Genet 1998; 35: 31-36. doi:10.1136/jmg.35.1.31 [Abstract] [PDF] [Request Permissions]

	Chromosome specific comparative genome hybridisation for determining the origin of intrachromosomal duplications. D K Griffin, D Sanoudou, E Adamski, C McGiffert, P O'Brien, J Wienberg, and M A Ferguson-Smith J Med Genet 1998; 35: 37-41. doi:10.1136/jmg.35.1.37 [Abstract] [PDF] [Request Permissions]

	Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. S Olschwang, D Markie, S Seal, K Neale, R Phillips, S Cottrell, I Ellis, S Hodgson, P Zauber, A Spigelman, T Iwama, S Loff, C McKeown, C Marchese, J Sampson, S Davies, I Talbot, J Wyke, G Thomas, W Bodmer, A Hemminki, E Avizienyte, A de la Chapelle, L Aaltonen, and I Tomlinson J Med Genet 1998; 35: 42-44. doi:10.1136/jmg.35.1.42 [Abstract] [PDF] [Request Permissions]

	Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? H Kikuchi, A Takata, Y Akasaka, R Fukuzawa, H Yoneyama, Y Kurosawa, M Honda, Y Kamiyama, and J Hata J Med Genet 1998; 35: 45-48. doi:10.1136/jmg.35.1.45 [Abstract] [PDF] [Request Permissions]

	Atelosteogenesis type 2. R Newbury-Ecob J Med Genet 1998; 35: 49-53. doi:10.1136/jmg.35.1.49 [Abstract] [PDF] [Request Permissions]

	Costello syndrome in two Brazilian children. R Pratesi, M Santos, and I Ferrari J Med Genet 1998; 35: 54-57. doi:10.1136/jmg.35.1.54 [Abstract] [PDF] [Request Permissions]

	Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). H B Vassal, M Malone, A J Petros, and R M Winter J Med Genet 1998; 35: 58-60. doi:10.1136/jmg.35.1.58 [Abstract] [PDF] [Request Permissions]

	Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. A Berger, N Haschke, C Kohlhauser, G Amman, U Unterberger, and M Weninger J Med Genet 1998; 35: 61-64. doi:10.1136/jmg.35.1.61 [Abstract] [PDF] [Request Permissions]

	Kyphomelic dysplasia in two sib fetuses. C P Chen, S R Chern, S L Shih, C Y Chuang, and F Y Huang J Med Genet 1998; 35: 65-69. doi:10.1136/jmg.35.1.65 [Abstract] [PDF] [Request Permissions]

	Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. K Devriendt, L Standaert, C Van Hole, H Devlieger, and J P Fryns J Med Genet 1998; 35: 70-71. doi:10.1136/jmg.35.1.70 [Abstract] [PDF] [Request Permissions]

	Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities. J Davies, A Jaffé, and A Bush J Med Genet 1998; 35: 72-74. doi:10.1136/jmg.35.1.72 [Abstract] [PDF] [Request Permissions]

	Partial trisomy 1(q42-->qter): a new case with a mild phenotype. D Concolino, R Cinti, L Ferraro, M T Moricca, and P Strisciuglio J Med Genet 1998; 35: 75-77. doi:10.1136/jmg.35.1.75 [Abstract] [PDF] [Request Permissions]

	Intrachromosomal triplication of distal 7p. H Rivera, L Bobadilla, A Rolon, J Kunz, and J A Crolla J Med Genet 1998; 35: 78-80. doi:10.1136/jmg.35.1.78 [Abstract] [PDF] [Request Permissions]

	Cystic fibrosis and mucins. A Harris and C Reid J Med Genet 1998; 35: 82-83. doi:10.1136/jmg.35.1.82 [PDF] [Request Permissions]

	Chinese geneticists approach ethics. X Mao J Med Genet 1998; 35: 83. doi:10.1136/jmg.35.1.83 [PDF] [Request Permissions]

	Familial gonadal tumours. M Tischkowitz, D Pilz, and P S Harper J Med Genet 1998; 35: 84. doi:10.1136/jmg.35.1.84 [PDF] [Request Permissions]

	Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation. M H Liang, L J Wong, D Klein, B Shapiro, C M Bowman, E Hsu, and L J Wong J Med Genet 1998; 35: 84-85. doi:10.1136/jmg.35.1.84-a [PDF] [Request Permissions]

	Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy. F Mansergh, T Meitinger, G Rodolph, P Humphries, and G J Farrar J Med Genet 1998; 35: 85-86. doi:10.1136/jmg.35.1.85 [PDF] [Request Permissions]

	Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth? K Okamoto, I M Morison, A E Reeve, N Tommerup, H R Wiedemann, and U Friedrich J Med Genet 1998; 35: 86. doi:10.1136/jmg.35.1.86 [PDF] [Request Permissions]