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July 1994 (Volume 31, Number 7). [Index by author]

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Abstracts

Medical genetics: advances in brief: C. elegans cell survival gene ced-9 encodes a functional homologue of the mammalian proto-oncogene bcl-2
N S Thakker
J Med Genet 1994; 31: 583. doi:10.1136/jmg.31.7.583 [PDF] [Request Permissions]

Medical genetics: advances in brief: Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children
Jill Clayton-Smith
J Med Genet 1994; 31: 583. doi:10.1136/jmg.31.7.583-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)_n repeat variation and selection against extreme expansion in sperm
Frances Flinter
J Med Genet 1994; 31: 583. doi:10.1136/jmg.31.7.583-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria
W Reardon
J Med Genet 1994; 31: 583. doi:10.1136/jmg.31.7.583-c [PDF] [Request Permissions]

Book Reviews

The Neurofibromatoses: A Pathogenetic and Clinical Review
Gareth Evans
J Med Genet 1994; 31: 584. doi:10.1136/jmg.31.7.584 [PDF] [Request Permissions]

Causes of Diabetes: Genetic and Environmental Factors
Richard Trembath
J Med Genet 1994; 31: 584. doi:10.1136/jmg.31.7.584-a [PDF] [Request Permissions]

Research Article

A gene map of congenital malformations.
A O Wilkie, J S Amberger, and V A McKusick
J Med Genet 1994; 31: 507-517. doi:10.1136/jmg.31.7.507 [Abstract] [PDF] [Request Permissions]

Paternal transmission of congenital myotonic dystrophy.
J Bergoffen, J Kant, J Sladky, D McDonald-McGinn, E H Zackai, and K H Fischbeck
J Med Genet 1994; 31: 518-520. doi:10.1136/jmg.31.7.518 [Abstract] [PDF] [Request Permissions]

Lethal congenital contracture syndrome: further delineation and genetic aspects.
K Vuopala and R Herva
J Med Genet 1994; 31: 521-527. doi:10.1136/jmg.31.7.521 [Abstract] [PDF] [Request Permissions]

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.
A L Collins, A E Cockwell, P A Jacobs, and N R Dennis
J Med Genet 1994; 31: 528-533. doi:10.1136/jmg.31.7.528 [Abstract] [PDF] [Request Permissions]

"Compensatory" uniparental disomy of chromosome 21 in two cases.
O Bartsch, M B Petersen, I Stuhlmann, G Mau, M Frantzen, E Schwinger, S E Antonarakis, and M Mikkelsen
J Med Genet 1994; 31: 534-540. doi:10.1136/jmg.31.7.534 [Abstract] [PDF] [Request Permissions]

Mutation analysis in 600 French cystic fibrosis patients.
F Chevalier-Porst, A M Bonardot, R Gilly, J P Chazalette, M Mathieu, and D Bozon
J Med Genet 1994; 31: 541-544. doi:10.1136/jmg.31.7.541 [Abstract] [PDF] [Request Permissions]

Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.
Z H Miedzybrodzka, Z Yin, K F Kelly, and N E Haites
J Med Genet 1994; 31: 545-550. doi:10.1136/jmg.31.7.545 [Abstract] [PDF] [Request Permissions]

Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels.
A Iolascon, T Parrella, S Perrotta, O Guardamagna, P M Coates, M Sartore, S Surrey, and P Fortina
J Med Genet 1994; 31: 551-554. doi:10.1136/jmg.31.7.551 [Abstract] [PDF] [Request Permissions]

International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.
J Med Genet 1994; 31: 555-559. doi:10.1136/jmg.31.7.555 [PDF] [Request Permissions]

Beckwith-Wiedemann syndrome.
M Elliott and E R Maher
J Med Genet 1994; 31: 560-564. doi:10.1136/jmg.31.7.560 [PDF] [Request Permissions]

Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.
C G Woods, J G Rogers, and V Mayne
J Med Genet 1994; 31: 565-569. doi:10.1136/jmg.31.7.565 [Abstract] [PDF] [Request Permissions]

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.
K H Orstavik, N McFadden, J Hagelsteen, E Ormerod, and C B van der Hagen
J Med Genet 1994; 31: 570-572. doi:10.1136/jmg.31.7.570 [Abstract] [PDF] [Request Permissions]

Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
D Meschede, U G Froster, M Bergmann, and E Nieschlag
J Med Genet 1994; 31: 573-575. doi:10.1136/jmg.31.7.573 [Abstract] [PDF] [Request Permissions]

A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA).
K Shibuta, M Abe, and T Suzuki
J Med Genet 1994; 31: 576-579. doi:10.1136/jmg.31.7.576 [Abstract] [PDF] [Request Permissions]

Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
A A Bergen, P Kestelyn, M Leys, and F Meire
J Med Genet 1994; 31: 580-582. doi:10.1136/jmg.31.7.580 [Abstract] [PDF] [Request Permissions]

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	Medical genetics: advances in brief: C. elegans cell survival gene ced-9 encodes a functional homologue of the mammalian proto-oncogene bcl-2 N S Thakker J Med Genet 1994; 31: 583. doi:10.1136/jmg.31.7.583 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children Jill Clayton-Smith J Med Genet 1994; 31: 583. doi:10.1136/jmg.31.7.583-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)_n repeat variation and selection against extreme expansion in sperm Frances Flinter J Med Genet 1994; 31: 583. doi:10.1136/jmg.31.7.583-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria W Reardon J Med Genet 1994; 31: 583. doi:10.1136/jmg.31.7.583-c [PDF] [Request Permissions]

	The Neurofibromatoses: A Pathogenetic and Clinical Review Gareth Evans J Med Genet 1994; 31: 584. doi:10.1136/jmg.31.7.584 [PDF] [Request Permissions]

	Causes of Diabetes: Genetic and Environmental Factors Richard Trembath J Med Genet 1994; 31: 584. doi:10.1136/jmg.31.7.584-a [PDF] [Request Permissions]

	A gene map of congenital malformations. A O Wilkie, J S Amberger, and V A McKusick J Med Genet 1994; 31: 507-517. doi:10.1136/jmg.31.7.507 [Abstract] [PDF] [Request Permissions]

	Paternal transmission of congenital myotonic dystrophy. J Bergoffen, J Kant, J Sladky, D McDonald-McGinn, E H Zackai, and K H Fischbeck J Med Genet 1994; 31: 518-520. doi:10.1136/jmg.31.7.518 [Abstract] [PDF] [Request Permissions]

	Lethal congenital contracture syndrome: further delineation and genetic aspects. K Vuopala and R Herva J Med Genet 1994; 31: 521-527. doi:10.1136/jmg.31.7.521 [Abstract] [PDF] [Request Permissions]

	A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients. A L Collins, A E Cockwell, P A Jacobs, and N R Dennis J Med Genet 1994; 31: 528-533. doi:10.1136/jmg.31.7.528 [Abstract] [PDF] [Request Permissions]

	"Compensatory" uniparental disomy of chromosome 21 in two cases. O Bartsch, M B Petersen, I Stuhlmann, G Mau, M Frantzen, E Schwinger, S E Antonarakis, and M Mikkelsen J Med Genet 1994; 31: 534-540. doi:10.1136/jmg.31.7.534 [Abstract] [PDF] [Request Permissions]

	Mutation analysis in 600 French cystic fibrosis patients. F Chevalier-Porst, A M Bonardot, R Gilly, J P Chazalette, M Mathieu, and D Bozon J Med Genet 1994; 31: 541-544. doi:10.1136/jmg.31.7.541 [Abstract] [PDF] [Request Permissions]

	Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs. Z H Miedzybrodzka, Z Yin, K F Kelly, and N E Haites J Med Genet 1994; 31: 545-550. doi:10.1136/jmg.31.7.545 [Abstract] [PDF] [Request Permissions]

	Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels. A Iolascon, T Parrella, S Perrotta, O Guardamagna, P M Coates, M Sartore, S Surrey, and P Fortina J Med Genet 1994; 31: 551-554. doi:10.1136/jmg.31.7.551 [Abstract] [PDF] [Request Permissions]

	International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 1994; 31: 555-559. doi:10.1136/jmg.31.7.555 [PDF] [Request Permissions]

	Beckwith-Wiedemann syndrome. M Elliott and E R Maher J Med Genet 1994; 31: 560-564. doi:10.1136/jmg.31.7.560 [PDF] [Request Permissions]

	Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia. C G Woods, J G Rogers, and V Mayne J Med Genet 1994; 31: 565-569. doi:10.1136/jmg.31.7.565 [Abstract] [PDF] [Request Permissions]

	Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. K H Orstavik, N McFadden, J Hagelsteen, E Ormerod, and C B van der Hagen J Med Genet 1994; 31: 570-572. doi:10.1136/jmg.31.7.570 [Abstract] [PDF] [Request Permissions]

	Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest. D Meschede, U G Froster, M Bergmann, and E Nieschlag J Med Genet 1994; 31: 573-575. doi:10.1136/jmg.31.7.573 [Abstract] [PDF] [Request Permissions]

	A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA). K Shibuta, M Abe, and T Suzuki J Med Genet 1994; 31: 576-579. doi:10.1136/jmg.31.7.576 [Abstract] [PDF] [Request Permissions]

	Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. A A Bergen, P Kestelyn, M Leys, and F Meire J Med Genet 1994; 31: 580-582. doi:10.1136/jmg.31.7.580 [Abstract] [PDF] [Request Permissions]