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July 1991 (Volume 28, Number 7). [Index by author]

		Miscellaneous Book Review Case Reports Research Article

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Miscellaneous

Correction
J Med Genet 1991; 28: 501. doi:10.1136/jmg.28.7.501 [PDF] [Request Permissions]

Book Review

Prenatal Diagnosis and Prognosis
Helen Kingston
J Med Genet 1991; 28: 504. doi:10.1136/jmg.28.7.504 [PDF] [Request Permissions]

Case Reports

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3
S H Roberts, H E Hughes, S J Davies, and A L Meredith
J Med Genet 1991; 28: 479-481. doi:10.1136/jmg.28.7.479 [Abstract] [PDF] [Request Permissions]

Congenital intestinal pseudo-obstruction associated with a giant platelet disorder
I Pollock, S J K Holmes, M A Patton, P A Hamilton, and T E Stacey
J Med Genet 1991; 28: 495-496. doi:10.1136/jmg.28.7.495 [Abstract] [PDF] [Request Permissions]

Research Article

Osteogenesis imperfecta: translation of mutation to phenotype.
P H Byers, G A Wallis, and M C Willing
J Med Genet 1991; 28: 433-442. doi:10.1136/jmg.28.7.433 [PDF] [Request Permissions]

Von Hippel-Lindau disease: a genetic study.
E R Maher, L Iselius, J R Yates, M Littler, C Benjamin, R Harris, J Sampson, A Williams, M A Ferguson-Smith, and N Morton
J Med Genet 1991; 28: 443-447. doi:10.1136/jmg.28.7.443 [Abstract] [PDF] [Request Permissions]

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.
J C Mulley, A K Gedeon, S J White, E A Haan, and R I Richards
J Med Genet 1991; 28: 448-452. doi:10.1136/jmg.28.7.448 [Abstract] [PDF] [Request Permissions]

Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
A F Wright, S S Bhattacharya, M A Aldred, M Jay, A D Carothers, N S Thomas, A C Bird, B Jay, and H J Evans
J Med Genet 1991; 28: 453-457. doi:10.1136/jmg.28.7.453 [Abstract] [PDF] [Request Permissions]

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
A J Richards, J C Lloyd, P N Ward, A De Paepe, P Narcisi, and F M Pope
J Med Genet 1991; 28: 458-463. doi:10.1136/jmg.28.7.458 [Abstract] [PDF] [Request Permissions]

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
L B Giebel, M A Musarella, and R A Spritz
J Med Genet 1991; 28: 464-467. doi:10.1136/jmg.28.7.464 [Abstract] [PDF] [Request Permissions]

Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis.
R T Howell
J Med Genet 1991; 28: 468-471. doi:10.1136/jmg.28.7.468 [Abstract] [PDF] [Request Permissions]

Application of D'Arcy Thompson's coordinate transformation approach to clinical genetics photographs using image processing techniques.
J H DiLiberti
J Med Genet 1991; 28: 472-476. doi:10.1136/jmg.28.7.472 [Abstract] [PDF] [Request Permissions]

A rare heteromorphism of chromosome 20 and reproductive loss.
D R Romain, S Whyte, D F Callen, and H J Eyre
J Med Genet 1991; 28: 477-478. doi:10.1136/jmg.28.7.477 [Abstract] [PDF] [Request Permissions]

Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.
I R Walpole and M T Mulcahy
J Med Genet 1991; 28: 482-484. doi:10.1136/jmg.28.7.482 [Abstract] [PDF] [Request Permissions]

Genochondromatosis.
M Le Merrer, P Fressinger, and P Maroteaux
J Med Genet 1991; 28: 485-489. doi:10.1136/jmg.28.7.485 [Abstract] [PDF] [Request Permissions]

Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?
Y Gillerot, L Van Maldergem, R Chef, and L Koulischer
J Med Genet 1991; 28: 490-491. doi:10.1136/jmg.28.7.490 [Abstract] [PDF] [Request Permissions]

Familial occurrence of tumours of the choroid plexus.
C P Zwetsloot, J M Kros, and H D Paz y Gueze
J Med Genet 1991; 28: 492-494. doi:10.1136/jmg.28.7.492 [Abstract] [PDF] [Request Permissions]

Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome.
M M Lai, J D Spencer, J A Montandon, and A C Berry
J Med Genet 1991; 28: 497-498. doi:10.1136/jmg.28.7.497 [Abstract] [PDF] [Request Permissions]

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.
T Tønnesen, H N Gregersen, and F Güttler
J Med Genet 1991; 28: 499-501. doi:10.1136/jmg.28.7.499 [Abstract] [PDF] [Request Permissions]

Parental mosaicism in de novo translocation (21q21q) Down's syndrome.
G Croci and F Franchi
J Med Genet 1991; 28: 502. doi:10.1136/jmg.28.7.502 [PDF] [Request Permissions]

Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata.
L J Sheffield, J L Halliday, and F Jensen
J Med Genet 1991; 28: 503-504. doi:10.1136/jmg.28.7.503 [PDF] [Request Permissions]

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	Correction J Med Genet 1991; 28: 501. doi:10.1136/jmg.28.7.501 [PDF] [Request Permissions]

	Prenatal Diagnosis and Prognosis Helen Kingston J Med Genet 1991; 28: 504. doi:10.1136/jmg.28.7.504 [PDF] [Request Permissions]

	Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3 S H Roberts, H E Hughes, S J Davies, and A L Meredith J Med Genet 1991; 28: 479-481. doi:10.1136/jmg.28.7.479 [Abstract] [PDF] [Request Permissions]

	Congenital intestinal pseudo-obstruction associated with a giant platelet disorder I Pollock, S J K Holmes, M A Patton, P A Hamilton, and T E Stacey J Med Genet 1991; 28: 495-496. doi:10.1136/jmg.28.7.495 [Abstract] [PDF] [Request Permissions]

	Osteogenesis imperfecta: translation of mutation to phenotype. P H Byers, G A Wallis, and M C Willing J Med Genet 1991; 28: 433-442. doi:10.1136/jmg.28.7.433 [PDF] [Request Permissions]

	Von Hippel-Lindau disease: a genetic study. E R Maher, L Iselius, J R Yates, M Littler, C Benjamin, R Harris, J Sampson, A Williams, M A Ferguson-Smith, and N Morton J Med Genet 1991; 28: 443-447. doi:10.1136/jmg.28.7.443 [Abstract] [PDF] [Request Permissions]

	Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers. J C Mulley, A K Gedeon, S J White, E A Haan, and R I Richards J Med Genet 1991; 28: 448-452. doi:10.1136/jmg.28.7.448 [Abstract] [PDF] [Request Permissions]

	Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. A F Wright, S S Bhattacharya, M A Aldred, M Jay, A D Carothers, N S Thomas, A C Bird, B Jay, and H J Evans J Med Genet 1991; 28: 453-457. doi:10.1136/jmg.28.7.453 [Abstract] [PDF] [Request Permissions]

	Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. A J Richards, J C Lloyd, P N Ward, A De Paepe, P Narcisi, and F M Pope J Med Genet 1991; 28: 458-463. doi:10.1136/jmg.28.7.458 [Abstract] [PDF] [Request Permissions]

	A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. L B Giebel, M A Musarella, and R A Spritz J Med Genet 1991; 28: 464-467. doi:10.1136/jmg.28.7.464 [Abstract] [PDF] [Request Permissions]

	Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis. R T Howell J Med Genet 1991; 28: 468-471. doi:10.1136/jmg.28.7.468 [Abstract] [PDF] [Request Permissions]

	Application of D'Arcy Thompson's coordinate transformation approach to clinical genetics photographs using image processing techniques. J H DiLiberti J Med Genet 1991; 28: 472-476. doi:10.1136/jmg.28.7.472 [Abstract] [PDF] [Request Permissions]

	A rare heteromorphism of chromosome 20 and reproductive loss. D R Romain, S Whyte, D F Callen, and H J Eyre J Med Genet 1991; 28: 477-478. doi:10.1136/jmg.28.7.477 [Abstract] [PDF] [Request Permissions]

	Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation. I R Walpole and M T Mulcahy J Med Genet 1991; 28: 482-484. doi:10.1136/jmg.28.7.482 [Abstract] [PDF] [Request Permissions]

	Genochondromatosis. M Le Merrer, P Fressinger, and P Maroteaux J Med Genet 1991; 28: 485-489. doi:10.1136/jmg.28.7.485 [Abstract] [PDF] [Request Permissions]

	Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology? Y Gillerot, L Van Maldergem, R Chef, and L Koulischer J Med Genet 1991; 28: 490-491. doi:10.1136/jmg.28.7.490 [Abstract] [PDF] [Request Permissions]

	Familial occurrence of tumours of the choroid plexus. C P Zwetsloot, J M Kros, and H D Paz y Gueze J Med Genet 1991; 28: 492-494. doi:10.1136/jmg.28.7.492 [Abstract] [PDF] [Request Permissions]

	Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome. M M Lai, J D Spencer, J A Montandon, and A C Berry J Med Genet 1991; 28: 497-498. doi:10.1136/jmg.28.7.497 [Abstract] [PDF] [Request Permissions]

	Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype. T Tønnesen, H N Gregersen, and F Güttler J Med Genet 1991; 28: 499-501. doi:10.1136/jmg.28.7.499 [Abstract] [PDF] [Request Permissions]

	Parental mosaicism in de novo translocation (21q21q) Down's syndrome. G Croci and F Franchi J Med Genet 1991; 28: 502. doi:10.1136/jmg.28.7.502 [PDF] [Request Permissions]

	Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata. L J Sheffield, J L Halliday, and F Jensen J Med Genet 1991; 28: 503-504. doi:10.1136/jmg.28.7.503 [PDF] [Request Permissions]