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June 1994 (Volume 31, Number 6). [Index by author]

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Abstracts

Medical genetics: advances in brief: Mitochondrial DNA rearrangements with onset as chronic diarrhoea with villous atrophy
Jill Clayton-Smith
J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504 [PDF] [Request Permissions]

Medical genetics: advances in brief: Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
W Reardon
J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504-a [PDF] [Request Permissions]

Medical genetics: advances in brief: Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
Frances Flinter
J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504-b [PDF] [Request Permissions]

Medical genetics: advances in brief: Toluene embryopathy: delineation of the phenotype and comparison with fetal alcohol syndrome
Jill Clayton-Smith
J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504-c [PDF] [Request Permissions]

Medical genetics: advances in brief: Risks of cancer in BRCA1-mutation carriers
W Reardon
J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504-d [PDF] [Request Permissions]

Book Reviews

Duchenne Muscular Dystrophy
Katherine Bushby
J Med Genet 1994; 31: 506. doi:10.1136/jmg.31.6.506 [PDF] [Request Permissions]

Genetics of Colorectal Cancer for Clinical Practice
Gareth Evans
J Med Genet 1994; 31: 506. doi:10.1136/jmg.31.6.506-a [PDF] [Request Permissions]

Research Article

The French Wilms' tumour study: no clear evidence for cancer prone families.
C Moutou, J Hochez, A Chompret, M F Tournade, C Le Bihan, J M Zucker, J Lemerle, and C Bonaïti-Pellié
J Med Genet 1994; 31: 429-434. doi:10.1136/jmg.31.6.429 [Abstract] [PDF] [Request Permissions]

Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.
B H Holmberg, G Holmgren, E Nelis, C van Broeckhoven, and B Westerberg
J Med Genet 1994; 31: 435-441. doi:10.1136/jmg.31.6.435 [Abstract] [PDF] [Request Permissions]

Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene.
W A Eckert, C Jung, and G Wolff
J Med Genet 1994; 31: 442-447. doi:10.1136/jmg.31.6.442 [Abstract] [PDF] [Request Permissions]

The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families.
M D Teare, K Rohde, and M F Santibáñez Koref
J Med Genet 1994; 31: 448-452. doi:10.1136/jmg.31.6.448 [Abstract] [PDF] [Request Permissions]

Segregation analysis of Alagille syndrome.
S Dhorne-Pollet, J F Deleuze, M Hadchouel, and C Bonaïti-Pellié
J Med Genet 1994; 31: 453-457. doi:10.1136/jmg.31.6.453 [Abstract] [PDF] [Request Permissions]

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
C Eng, V Murday, S Seal, S Mohammed, S V Hodgson, M A Chaudary, I S Fentiman, B A Ponder, and R A Eeles
J Med Genet 1994; 31: 458-461. doi:10.1136/jmg.31.6.458 [Abstract] [PDF] [Request Permissions]

Phenotypic analysis of triphalangeal thumb and associated hand malformations.
J Zguricas, P J Snijders, S E Hovius, P Heutink, B A Oostra, and D Lindhout
J Med Genet 1994; 31: 462-467. doi:10.1136/jmg.31.6.462 [Abstract] [PDF] [Request Permissions]

Genital tract function in men with Noonan syndrome.
M M Elsawi, J P Pryor, G Klufio, C Barnes, and M A Patton
J Med Genet 1994; 31: 468-470. doi:10.1136/jmg.31.6.468 [Abstract] [PDF] [Request Permissions]

The Denys-Drash syndrome.
R F Mueller
J Med Genet 1994; 31: 471-477. doi:10.1136/jmg.31.6.471 [PDF] [Request Permissions]

A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.
S Vickers, M Dahlitz, C Hardy, M Kilpatrick, and T Webb
J Med Genet 1994; 31: 478-481. doi:10.1136/jmg.31.6.478 [Abstract] [PDF] [Request Permissions]

Meckel syndrome: what are the minimum diagnostic criteria?
C Wright, R Healicon, C English, and J Burn
J Med Genet 1994; 31: 482-485. doi:10.1136/jmg.31.6.482 [Abstract] [PDF] [Request Permissions]

Costello syndrome: natural history and differential diagnosis of cutis laxa.
S J Davies and H E Hughes
J Med Genet 1994; 31: 486-489. doi:10.1136/jmg.31.6.486 [Abstract] [PDF] [Request Permissions]

Four cases of bladder exstrophy in two families.
E J Messelink, D C Aronson, M Knuist, H A Heij, and A Vos
J Med Genet 1994; 31: 490-492. doi:10.1136/jmg.31.6.490 [Abstract] [PDF] [Request Permissions]

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
D Narayan, S N Krishnan, M Upender, T S Ravikumar, M J Mahoney, T F Dolan, Jr, A S Teebi, and G G Haddad
J Med Genet 1994; 31: 493-496. doi:10.1136/jmg.31.6.493 [Abstract] [PDF] [Request Permissions]

A further patient with Pai syndrome with autosomal dominant inheritance?
S Rudnik-Schöneborn and K Zerres
J Med Genet 1994; 31: 497-498. doi:10.1136/jmg.31.6.497 [Abstract] [PDF] [Request Permissions]

Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
M Ali, G Tunçman, N C Cross, M Vidailhet, I Bökesoy, R Gitzelmann, and T M Cox
J Med Genet 1994; 31: 499-503. doi:10.1136/jmg.31.6.499 [Abstract] [PDF] [Request Permissions]

An inherited dystrophin deletion without muscle weakness.
A L Collins, K G Leyland, C R Kennedy, D Robinson, and H C Spratt
J Med Genet 1994; 31: 505. doi:10.1136/jmg.31.6.505 [PDF] [Request Permissions]

The newly recognised skeletogenital syndrome.
T I Farag
J Med Genet 1994; 31: 505. doi:10.1136/jmg.31.6.505-a [PDF] [Request Permissions]

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	Medical genetics: advances in brief: Mitochondrial DNA rearrangements with onset as chronic diarrhoea with villous atrophy Jill Clayton-Smith J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504 [PDF] [Request Permissions]

	Medical genetics: advances in brief: Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder W Reardon J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504-a [PDF] [Request Permissions]

	Medical genetics: advances in brief: Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy Frances Flinter J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504-b [PDF] [Request Permissions]

	Medical genetics: advances in brief: Toluene embryopathy: delineation of the phenotype and comparison with fetal alcohol syndrome Jill Clayton-Smith J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504-c [PDF] [Request Permissions]

	Medical genetics: advances in brief: Risks of cancer in BRCA1-mutation carriers W Reardon J Med Genet 1994; 31: 504. doi:10.1136/jmg.31.6.504-d [PDF] [Request Permissions]

	Duchenne Muscular Dystrophy Katherine Bushby J Med Genet 1994; 31: 506. doi:10.1136/jmg.31.6.506 [PDF] [Request Permissions]

	Genetics of Colorectal Cancer for Clinical Practice Gareth Evans J Med Genet 1994; 31: 506. doi:10.1136/jmg.31.6.506-a [PDF] [Request Permissions]

	The French Wilms' tumour study: no clear evidence for cancer prone families. C Moutou, J Hochez, A Chompret, M F Tournade, C Le Bihan, J M Zucker, J Lemerle, and C Bonaïti-Pellié J Med Genet 1994; 31: 429-434. doi:10.1136/jmg.31.6.429 [Abstract] [PDF] [Request Permissions]

	Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. B H Holmberg, G Holmgren, E Nelis, C van Broeckhoven, and B Westerberg J Med Genet 1994; 31: 435-441. doi:10.1136/jmg.31.6.435 [Abstract] [PDF] [Request Permissions]

	Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene. W A Eckert, C Jung, and G Wolff J Med Genet 1994; 31: 442-447. doi:10.1136/jmg.31.6.442 [Abstract] [PDF] [Request Permissions]

	The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families. M D Teare, K Rohde, and M F Santibáñez Koref J Med Genet 1994; 31: 448-452. doi:10.1136/jmg.31.6.448 [Abstract] [PDF] [Request Permissions]

	Segregation analysis of Alagille syndrome. S Dhorne-Pollet, J F Deleuze, M Hadchouel, and C Bonaïti-Pellié J Med Genet 1994; 31: 453-457. doi:10.1136/jmg.31.6.453 [Abstract] [PDF] [Request Permissions]

	Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? C Eng, V Murday, S Seal, S Mohammed, S V Hodgson, M A Chaudary, I S Fentiman, B A Ponder, and R A Eeles J Med Genet 1994; 31: 458-461. doi:10.1136/jmg.31.6.458 [Abstract] [PDF] [Request Permissions]

	Phenotypic analysis of triphalangeal thumb and associated hand malformations. J Zguricas, P J Snijders, S E Hovius, P Heutink, B A Oostra, and D Lindhout J Med Genet 1994; 31: 462-467. doi:10.1136/jmg.31.6.462 [Abstract] [PDF] [Request Permissions]

	Genital tract function in men with Noonan syndrome. M M Elsawi, J P Pryor, G Klufio, C Barnes, and M A Patton J Med Genet 1994; 31: 468-470. doi:10.1136/jmg.31.6.468 [Abstract] [PDF] [Request Permissions]

	The Denys-Drash syndrome. R F Mueller J Med Genet 1994; 31: 471-477. doi:10.1136/jmg.31.6.471 [PDF] [Request Permissions]

	A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome. S Vickers, M Dahlitz, C Hardy, M Kilpatrick, and T Webb J Med Genet 1994; 31: 478-481. doi:10.1136/jmg.31.6.478 [Abstract] [PDF] [Request Permissions]

	Meckel syndrome: what are the minimum diagnostic criteria? C Wright, R Healicon, C English, and J Burn J Med Genet 1994; 31: 482-485. doi:10.1136/jmg.31.6.482 [Abstract] [PDF] [Request Permissions]

	Costello syndrome: natural history and differential diagnosis of cutis laxa. S J Davies and H E Hughes J Med Genet 1994; 31: 486-489. doi:10.1136/jmg.31.6.486 [Abstract] [PDF] [Request Permissions]

	Four cases of bladder exstrophy in two families. E J Messelink, D C Aronson, M Knuist, H A Heij, and A Vos J Med Genet 1994; 31: 490-492. doi:10.1136/jmg.31.6.490 [Abstract] [PDF] [Request Permissions]

	Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). D Narayan, S N Krishnan, M Upender, T S Ravikumar, M J Mahoney, T F Dolan, Jr, A S Teebi, and G G Haddad J Med Genet 1994; 31: 493-496. doi:10.1136/jmg.31.6.493 [Abstract] [PDF] [Request Permissions]

	A further patient with Pai syndrome with autosomal dominant inheritance? S Rudnik-Schöneborn and K Zerres J Med Genet 1994; 31: 497-498. doi:10.1136/jmg.31.6.497 [Abstract] [PDF] [Request Permissions]

	Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. M Ali, G Tunçman, N C Cross, M Vidailhet, I Bökesoy, R Gitzelmann, and T M Cox J Med Genet 1994; 31: 499-503. doi:10.1136/jmg.31.6.499 [Abstract] [PDF] [Request Permissions]

	An inherited dystrophin deletion without muscle weakness. A L Collins, K G Leyland, C R Kennedy, D Robinson, and H C Spratt J Med Genet 1994; 31: 505. doi:10.1136/jmg.31.6.505 [PDF] [Request Permissions]

	The newly recognised skeletogenital syndrome. T I Farag J Med Genet 1994; 31: 505. doi:10.1136/jmg.31.6.505-a [PDF] [Request Permissions]