J Med Genet -- Table of Contents (29 [5])

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May 1992 (Volume 29, Number 5). [Index by author]

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Abstracts

Medical genetics: advances in brief
N S Thakker
J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356 [PDF] [Request Permissions]

Medical genetics: advances in brief: Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities
John C K Barber
J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Iron overload in Africa
A M Norman
J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder
David Fitzpatrick
J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356-c [PDF] [Request Permissions]

Medical genetics: advances in brief: p53 germline mutations in Li-Fraumeni syndrome
W Reardon
J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356-d [PDF] [Request Permissions]

Book Reviews

The Triumph of the Embryo
E R Maher
J Med Genet 1992; 29: 357. doi:10.1136/jmg.29.5.357-b [PDF] [Request Permissions]

Antenatal Diagnosis of Fetal Abnormalities
John Tolmie
J Med Genet 1992; 29: 357-358. doi:10.1136/jmg.29.5.357-c [PDF] [Request Permissions]

The Colonization of the Pacific
D F Roberts
J Med Genet 1992; 29: 358. doi:10.1136/jmg.29.5.358 [PDF] [Request Permissions]

Introduction to Risk Calculation in Genetic Counselling
Sarah Bundey
J Med Genet 1992; 29: 358-359. doi:10.1136/jmg.29.5.358-a [PDF] [Request Permissions]

The Identification of the CF (Cystic Fibrosis) Gene: Recent Progress and New Research Strategies
D J H Brock
J Med Genet 1992; 29: 359. doi:10.1136/jmg.29.5.359 [PDF] [Request Permissions]

Catalog of Chromosome Aberrations in Cancer
Christine J Harrison
J Med Genet 1992; 29: 359. doi:10.1136/jmg.29.5.359-a [PDF] [Request Permissions]

Genes, Brain and Behavior
Peter McGuffin
J Med Genet 1992; 29: 359. doi:10.1136/jmg.29.5.359-b [PDF] [Request Permissions]

Genome Analysis. Volume 1. Genetic and Physical Mapping
S Malcolm
J Med Genet 1992; 29: 359-360. doi:10.1136/jmg.29.5.359-c [PDF] [Request Permissions]

Hereditary Tumors
Eamonn Maher
J Med Genet 1992; 29: 360. doi:10.1136/jmg.29.5.360 [PDF] [Request Permissions]

DNA Fingerprinting: Approaches and Applications
S Povey
J Med Genet 1992; 29: 360. doi:10.1136/jmg.29.5.360-a [PDF] [Request Permissions]

Research Article

Cone and cone-rod dystrophies.
A T Moore
J Med Genet 1992; 29: 289-290. doi:10.1136/jmg.29.5.289 [PDF] [Request Permissions]

X linked progressive cone dystrophy with specific attention to carrier detection.
J A van Everdingen, L N Went, J E Keunen, and J A Oosterhuis
J Med Genet 1992; 29: 291-294. doi:10.1136/jmg.29.5.291 [Abstract] [PDF] [Request Permissions]

Late onset dominant cone dystrophy with early blue cone involvement.
L N Went, M J van Schooneveld, and J A Oosterhuis
J Med Genet 1992; 29: 295-298. doi:10.1136/jmg.29.5.295 [Abstract] [PDF] [Request Permissions]

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics.
N P Carter, M A Ferguson-Smith, M T Perryman, H Telenius, A H Pelmear, M A Leversha, M T Glancy, S L Wood, K Cook, and H M Dyson
J Med Genet 1992; 29: 299-307. doi:10.1136/jmg.29.5.299 [Abstract] [PDF] [Request Permissions]

Prenatal cystic fibrosis carrier testing: designing an information leaflet to meet the specific needs of the target population.
M E Mennie, W A Liston, and D J Brock
J Med Genet 1992; 29: 308-312. doi:10.1136/jmg.29.5.308 [Abstract] [PDF] [Request Permissions]

Principles and practicalities of carrier screening: attitudes of recent parents.
J M Green
J Med Genet 1992; 29: 313-319. doi:10.1136/jmg.29.5.313 [Abstract] [PDF] [Request Permissions]

Familial screening for genetic haemochromatosis by means of DNA markers.
J Yaouanq, A el Kahloun, M Chorney, A M Jouanolle, V Mauvieux, M Perichon, M Blayau, P Pontarotti, J Y Le Gall, and V David
J Med Genet 1992; 29: 320-322. doi:10.1136/jmg.29.5.320 [Abstract] [PDF] [Request Permissions]

Ectodermal dysplasia with blindness in sibs on the island of Rodrigues.
C E Wallis and P Beighton
J Med Genet 1992; 29: 323-325. doi:10.1136/jmg.29.5.323 [Abstract] [PDF] [Request Permissions]

Oculoauriculovertebral spectrum and cerebral anomalies.
C T Schrander-Stumpel, C E de Die-Smulders, R C Hennekam, J P Fryns, P X Bouckaert, O F Brouwer, J J da Costa, E J Lommen, and P D Maaswinkel-Mooy
J Med Genet 1992; 29: 326-331. doi:10.1136/jmg.29.5.326 [Abstract] [PDF] [Request Permissions]

Weaver syndrome.
T R Cole, N R Dennis, and H E Hughes
J Med Genet 1992; 29: 332-337. doi:10.1136/jmg.29.5.332 [PDF] [Request Permissions]

Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions?
T R Cole, H E Hughes, M J Jeffreys, G T Williams, and M M Arnold
J Med Genet 1992; 29: 338-341. doi:10.1136/jmg.29.5.338 [Abstract] [PDF] [Request Permissions]

Monosomy 10qter: a new case.
M Teyssier, C Charrin, J Dutruge, and C Rousselle
J Med Genet 1992; 29: 342-343. doi:10.1136/jmg.29.5.342 [Abstract] [PDF] [Request Permissions]

Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).
R S Verma, R A Conte, and J H Pitter
J Med Genet 1992; 29: 344-345. doi:10.1136/jmg.29.5.344 [Abstract] [PDF] [Request Permissions]

Brachydactyly type C associated with shortening of the hallux.
J M Rowe-Jones, A L Moss, and M A Patton
J Med Genet 1992; 29: 346-348. doi:10.1136/jmg.29.5.346 [Abstract] [PDF] [Request Permissions]

Atypical case of Aarskog syndrome.
R V Mikelsaar and I W Lurie
J Med Genet 1992; 29: 349-350. doi:10.1136/jmg.29.5.349 [PDF] [Request Permissions]

A de novo insertion, detected prenatally, with normal phenotype.
A F Hashish, N A Monk, A J Watt, and R J Gardner
J Med Genet 1992; 29: 351. doi:10.1136/jmg.29.5.351 [PDF] [Request Permissions]

The molecular genetics of Alport syndrome: report of two workshops.
F Flinter and M Bobrow
J Med Genet 1992; 29: 352-353. doi:10.1136/jmg.29.5.352 [PDF] [Request Permissions]

Symposium on epidermolysis bullosa.
T Gedde-Dahl, Jr
J Med Genet 1992; 29: 354-355. doi:10.1136/jmg.29.5.354 [PDF] [Request Permissions]

X linked alpha thalassaemia/mental retardation (ATR-X) syndrome.
A E Chudley and R B Lowry
J Med Genet 1992; 29: 357. doi:10.1136/jmg.29.5.357 [PDF] [Request Permissions]

49,XXXXY syndrome: behavioural and developmental profiles.
J Jancar
J Med Genet 1992; 29: 357. doi:10.1136/jmg.29.5.357-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief N S Thakker J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities John C K Barber J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Iron overload in Africa A M Norman J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder David Fitzpatrick J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: p53 germline mutations in Li-Fraumeni syndrome W Reardon J Med Genet 1992; 29: 356. doi:10.1136/jmg.29.5.356-d [PDF] [Request Permissions]

	The Triumph of the Embryo E R Maher J Med Genet 1992; 29: 357. doi:10.1136/jmg.29.5.357-b [PDF] [Request Permissions]

	Antenatal Diagnosis of Fetal Abnormalities John Tolmie J Med Genet 1992; 29: 357-358. doi:10.1136/jmg.29.5.357-c [PDF] [Request Permissions]

	The Colonization of the Pacific D F Roberts J Med Genet 1992; 29: 358. doi:10.1136/jmg.29.5.358 [PDF] [Request Permissions]

	Introduction to Risk Calculation in Genetic Counselling Sarah Bundey J Med Genet 1992; 29: 358-359. doi:10.1136/jmg.29.5.358-a [PDF] [Request Permissions]

	The Identification of the CF (Cystic Fibrosis) Gene: Recent Progress and New Research Strategies D J H Brock J Med Genet 1992; 29: 359. doi:10.1136/jmg.29.5.359 [PDF] [Request Permissions]

	Catalog of Chromosome Aberrations in Cancer Christine J Harrison J Med Genet 1992; 29: 359. doi:10.1136/jmg.29.5.359-a [PDF] [Request Permissions]

	Genes, Brain and Behavior Peter McGuffin J Med Genet 1992; 29: 359. doi:10.1136/jmg.29.5.359-b [PDF] [Request Permissions]

	Genome Analysis. Volume 1. Genetic and Physical Mapping S Malcolm J Med Genet 1992; 29: 359-360. doi:10.1136/jmg.29.5.359-c [PDF] [Request Permissions]

	Hereditary Tumors Eamonn Maher J Med Genet 1992; 29: 360. doi:10.1136/jmg.29.5.360 [PDF] [Request Permissions]

	DNA Fingerprinting: Approaches and Applications S Povey J Med Genet 1992; 29: 360. doi:10.1136/jmg.29.5.360-a [PDF] [Request Permissions]

	Cone and cone-rod dystrophies. A T Moore J Med Genet 1992; 29: 289-290. doi:10.1136/jmg.29.5.289 [PDF] [Request Permissions]

	X linked progressive cone dystrophy with specific attention to carrier detection. J A van Everdingen, L N Went, J E Keunen, and J A Oosterhuis J Med Genet 1992; 29: 291-294. doi:10.1136/jmg.29.5.291 [Abstract] [PDF] [Request Permissions]

	Late onset dominant cone dystrophy with early blue cone involvement. L N Went, M J van Schooneveld, and J A Oosterhuis J Med Genet 1992; 29: 295-298. doi:10.1136/jmg.29.5.295 [Abstract] [PDF] [Request Permissions]

	Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. N P Carter, M A Ferguson-Smith, M T Perryman, H Telenius, A H Pelmear, M A Leversha, M T Glancy, S L Wood, K Cook, and H M Dyson J Med Genet 1992; 29: 299-307. doi:10.1136/jmg.29.5.299 [Abstract] [PDF] [Request Permissions]

	Prenatal cystic fibrosis carrier testing: designing an information leaflet to meet the specific needs of the target population. M E Mennie, W A Liston, and D J Brock J Med Genet 1992; 29: 308-312. doi:10.1136/jmg.29.5.308 [Abstract] [PDF] [Request Permissions]

	Principles and practicalities of carrier screening: attitudes of recent parents. J M Green J Med Genet 1992; 29: 313-319. doi:10.1136/jmg.29.5.313 [Abstract] [PDF] [Request Permissions]

	Familial screening for genetic haemochromatosis by means of DNA markers. J Yaouanq, A el Kahloun, M Chorney, A M Jouanolle, V Mauvieux, M Perichon, M Blayau, P Pontarotti, J Y Le Gall, and V David J Med Genet 1992; 29: 320-322. doi:10.1136/jmg.29.5.320 [Abstract] [PDF] [Request Permissions]

	Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. C E Wallis and P Beighton J Med Genet 1992; 29: 323-325. doi:10.1136/jmg.29.5.323 [Abstract] [PDF] [Request Permissions]

	Oculoauriculovertebral spectrum and cerebral anomalies. C T Schrander-Stumpel, C E de Die-Smulders, R C Hennekam, J P Fryns, P X Bouckaert, O F Brouwer, J J da Costa, E J Lommen, and P D Maaswinkel-Mooy J Med Genet 1992; 29: 326-331. doi:10.1136/jmg.29.5.326 [Abstract] [PDF] [Request Permissions]

	Weaver syndrome. T R Cole, N R Dennis, and H E Hughes J Med Genet 1992; 29: 332-337. doi:10.1136/jmg.29.5.332 [PDF] [Request Permissions]

	Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions? T R Cole, H E Hughes, M J Jeffreys, G T Williams, and M M Arnold J Med Genet 1992; 29: 338-341. doi:10.1136/jmg.29.5.338 [Abstract] [PDF] [Request Permissions]

	Monosomy 10qter: a new case. M Teyssier, C Charrin, J Dutruge, and C Rousselle J Med Genet 1992; 29: 342-343. doi:10.1136/jmg.29.5.342 [Abstract] [PDF] [Request Permissions]

	Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)). R S Verma, R A Conte, and J H Pitter J Med Genet 1992; 29: 344-345. doi:10.1136/jmg.29.5.344 [Abstract] [PDF] [Request Permissions]

	Brachydactyly type C associated with shortening of the hallux. J M Rowe-Jones, A L Moss, and M A Patton J Med Genet 1992; 29: 346-348. doi:10.1136/jmg.29.5.346 [Abstract] [PDF] [Request Permissions]

	Atypical case of Aarskog syndrome. R V Mikelsaar and I W Lurie J Med Genet 1992; 29: 349-350. doi:10.1136/jmg.29.5.349 [PDF] [Request Permissions]

	A de novo insertion, detected prenatally, with normal phenotype. A F Hashish, N A Monk, A J Watt, and R J Gardner J Med Genet 1992; 29: 351. doi:10.1136/jmg.29.5.351 [PDF] [Request Permissions]

	The molecular genetics of Alport syndrome: report of two workshops. F Flinter and M Bobrow J Med Genet 1992; 29: 352-353. doi:10.1136/jmg.29.5.352 [PDF] [Request Permissions]

	Symposium on epidermolysis bullosa. T Gedde-Dahl, Jr J Med Genet 1992; 29: 354-355. doi:10.1136/jmg.29.5.354 [PDF] [Request Permissions]

	X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. A E Chudley and R B Lowry J Med Genet 1992; 29: 357. doi:10.1136/jmg.29.5.357 [PDF] [Request Permissions]

	49,XXXXY syndrome: behavioural and developmental profiles. J Jancar J Med Genet 1992; 29: 357. doi:10.1136/jmg.29.5.357-a [PDF] [Request Permissions]