J Med Genet -- Table of Contents (36 [5])

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May 1999 (Volume 36, Number 5). [Index by author]

		Review articles Original articles Short reports Letters to the editor

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Review articles

Clinical and molecular genetics of Stickler syndrome
Martin P Snead and John R W Yates
J Med Genet 1999; 36: 353-359. doi:10.1136/jmg.36.5.353 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN
Julide Tok Çelebi, Hui C Tsou, Fei Fei Chen, Hong Zhang, Xiao Li Ping, Mark G Lebwohl, Jeffrey Kezis, and Monica Peacocke
J Med Genet 1999; 36: 360-364. doi:10.1136/jmg.36.5.360 [Abstract] [Full text] [PDF] [Request Permissions]

Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients
Z-J Wang, M Churchman, E Avizienyte, C McKeown, S Davies, D G R Evans, A Ferguson, I Ellis, Wen-Huai Xu, Zhong-Yu Yan, L A Aaltonen, and I P M Tomlinson
J Med Genet 1999; 36: 365-368. doi:10.1136/jmg.36.5.365 [Abstract] [Full text] [PDF] [Request Permissions]

Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer
Shirley V Hodgson, Elizabeth Heap, June Cameron, David Ellis, Christopher G Mathew, Rosalind A Eeles, Ellen Solomon, and Cathryn M Lewis
J Med Genet 1999; 36: 369-373. doi:10.1136/jmg.36.5.369 [Abstract] [Full text] [PDF] [Request Permissions]

X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11
Petter Strømme, Kjetil Sundet, Cato Mørk, Jean-Jacques Cassiman, Jean-Pierre Fryns, and Stephan Claes
J Med Genet 1999; 36: 374-378. doi:10.1136/jmg.36.5.374 [Abstract] [Full text] [PDF] [Request Permissions]

Linkage and association studies of atopy and the chromosome 11q13 region
Klaus A Deichmann, Barbara Starke, Simone Schlenther, Andrea Heinzmann, Susanne Hauschildt Sparholt, Johannes Forster, and Joachim Kuehr
J Med Genet 1999; 36: 379-382. doi:10.1136/jmg.36.5.379 [Abstract] [Full text] [PDF] [Request Permissions]

Connexin26 deafness in several interconnected families
Stephen A Wilcox, Amelia H Osborn, Denise R Allen-Powell, Marion A Maw, Hans-Henrik M Dahl, and R J McKinlay Gardner
J Med Genet 1999; 36: 383-385. doi:10.1136/jmg.36.5.383 [Abstract] [Full text] [PDF] [Request Permissions]

International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age
Andrew D Carothers, Christina A Hecht, and Ernest B Hook
J Med Genet 1999; 36: 386-393. doi:10.1136/jmg.36.5.386 [Abstract] [Full text] [PDF] [Request Permissions]

The face of Smith-Magenis syndrome: a subjective and objective study
Judith E Allanson, Frank Greenberg, and Ann C M Smith
J Med Genet 1999; 36: 394-397. doi:10.1136/jmg.36.5.394 [Abstract] [Full text] [PDF] [Request Permissions]

Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Pekka Arvio, Maria Arvio, Matti Kero, Sinikka Pirinen, and Pirjo-Liisa Lukinmaa
J Med Genet 1999; 36: 398-404. doi:10.1136/jmg.36.5.398 [Abstract] [Full text] [PDF] [Request Permissions]

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
A Slavotinek, M Rosenberg, S Knight, L Gaunt, W Fergusson, C Killoran, J Clayton-Smith, H Kingston, R H A Campbell, J Flint, D Donnai, and L Biesecker
J Med Genet 1999; 36: 405-411. doi:10.1136/jmg.36.5.405 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
S Muro, C Pérez-Cerdá, P Rodríguez-Pombo, B Pérez, P Briones, A Ribes, and M Ugarte
J Med Genet 1999; 36: 412-414. doi:10.1136/jmg.36.5.412 [Abstract] [Full text] [PDF] [Request Permissions]

Linkage disequilibrium at the SCA2 locus
Olivier Didierjean, Géraldine Cancel, Giovanni Stevanin, Alexandra Dürr, Katrin Bürk, Ali Benomar, Agnès Lezin, Samir Belal, Myriem Abada-Bendid, Thomas Klockgether, and Alexis Brice
J Med Genet 1999; 36: 415-417. doi:10.1136/jmg.36.5.415 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

Familial pericentric inversion of chromosome 1 (p36.3q23) and Bardet-Biedl syndrome
S M TAYEL, R L AL-NAGGAR, D S KRISHNA MURTHY, K K NAGUIB, S A AL-AWADI, and N A ABOU KARSH
J Med Genet 1999; 36: 418-419. doi:10.1136/jmg.36.5.418 [Extract] [Full text] [PDF] [Request Permissions]

Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters
B GIBBONS, S Y TAN, J C K BARBER, C F NG, L A KNIGHT, S LAM, and I NG
J Med Genet 1999; 36: 419-422. doi:10.1136/jmg.36.5.419 [Extract] [Full text] [Request Permissions]

Cloverleaf skull anomaly and de novo trisomy 4p
D DE BRASI, L PERONE, P DI MICCO, G ANDRIA, G SEBASTIO, E IACCARINO, L PINTO, and F ALIBERTI
J Med Genet 1999; 36: 422-424. doi:10.1136/jmg.36.5.422 [Extract] [Full text] [Request Permissions]

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	Clinical and molecular genetics of Stickler syndrome Martin P Snead and John R W Yates J Med Genet 1999; 36: 353-359. doi:10.1136/jmg.36.5.353 [Abstract] [Full text] [PDF] [Request Permissions]

	Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN Julide Tok Çelebi, Hui C Tsou, Fei Fei Chen, Hong Zhang, Xiao Li Ping, Mark G Lebwohl, Jeffrey Kezis, and Monica Peacocke J Med Genet 1999; 36: 360-364. doi:10.1136/jmg.36.5.360 [Abstract] [Full text] [PDF] [Request Permissions]

	Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients Z-J Wang, M Churchman, E Avizienyte, C McKeown, S Davies, D G R Evans, A Ferguson, I Ellis, Wen-Huai Xu, Zhong-Yu Yan, L A Aaltonen, and I P M Tomlinson J Med Genet 1999; 36: 365-368. doi:10.1136/jmg.36.5.365 [Abstract] [Full text] [PDF] [Request Permissions]

	Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer Shirley V Hodgson, Elizabeth Heap, June Cameron, David Ellis, Christopher G Mathew, Rosalind A Eeles, Ellen Solomon, and Cathryn M Lewis J Med Genet 1999; 36: 369-373. doi:10.1136/jmg.36.5.369 [Abstract] [Full text] [PDF] [Request Permissions]

	X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11 Petter Strømme, Kjetil Sundet, Cato Mørk, Jean-Jacques Cassiman, Jean-Pierre Fryns, and Stephan Claes J Med Genet 1999; 36: 374-378. doi:10.1136/jmg.36.5.374 [Abstract] [Full text] [PDF] [Request Permissions]

	Linkage and association studies of atopy and the chromosome 11q13 region Klaus A Deichmann, Barbara Starke, Simone Schlenther, Andrea Heinzmann, Susanne Hauschildt Sparholt, Johannes Forster, and Joachim Kuehr J Med Genet 1999; 36: 379-382. doi:10.1136/jmg.36.5.379 [Abstract] [Full text] [PDF] [Request Permissions]

	Connexin26 deafness in several interconnected families Stephen A Wilcox, Amelia H Osborn, Denise R Allen-Powell, Marion A Maw, Hans-Henrik M Dahl, and R J McKinlay Gardner J Med Genet 1999; 36: 383-385. doi:10.1136/jmg.36.5.383 [Abstract] [Full text] [PDF] [Request Permissions]

	International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age Andrew D Carothers, Christina A Hecht, and Ernest B Hook J Med Genet 1999; 36: 386-393. doi:10.1136/jmg.36.5.386 [Abstract] [Full text] [PDF] [Request Permissions]

	The face of Smith-Magenis syndrome: a subjective and objective study Judith E Allanson, Frank Greenberg, and Ann C M Smith J Med Genet 1999; 36: 394-397. doi:10.1136/jmg.36.5.394 [Abstract] [Full text] [PDF] [Request Permissions]

	Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria Pekka Arvio, Maria Arvio, Matti Kero, Sinikka Pirinen, and Pirjo-Liisa Lukinmaa J Med Genet 1999; 36: 398-404. doi:10.1136/jmg.36.5.398 [Abstract] [Full text] [PDF] [Request Permissions]

	Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres A Slavotinek, M Rosenberg, S Knight, L Gaunt, W Fergusson, C Killoran, J Clayton-Smith, H Kingston, R H A Campbell, J Flint, D Donnai, and L Biesecker J Med Genet 1999; 36: 405-411. doi:10.1136/jmg.36.5.405 [Abstract] [Full text] [PDF] [Request Permissions]

	Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia S Muro, C Pérez-Cerdá, P Rodríguez-Pombo, B Pérez, P Briones, A Ribes, and M Ugarte J Med Genet 1999; 36: 412-414. doi:10.1136/jmg.36.5.412 [Abstract] [Full text] [PDF] [Request Permissions]

	Linkage disequilibrium at the SCA2 locus Olivier Didierjean, Géraldine Cancel, Giovanni Stevanin, Alexandra Dürr, Katrin Bürk, Ali Benomar, Agnès Lezin, Samir Belal, Myriem Abada-Bendid, Thomas Klockgether, and Alexis Brice J Med Genet 1999; 36: 415-417. doi:10.1136/jmg.36.5.415 [Abstract] [Full text] [PDF] [Request Permissions]

	Familial pericentric inversion of chromosome 1 (p36.3q23) and Bardet-Biedl syndrome S M TAYEL, R L AL-NAGGAR, D S KRISHNA MURTHY, K K NAGUIB, S A AL-AWADI, and N A ABOU KARSH J Med Genet 1999; 36: 418-419. doi:10.1136/jmg.36.5.418 [Extract] [Full text] [PDF] [Request Permissions]

	Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters B GIBBONS, S Y TAN, J C K BARBER, C F NG, L A KNIGHT, S LAM, and I NG J Med Genet 1999; 36: 419-422. doi:10.1136/jmg.36.5.419 [Extract] [Full text] [Request Permissions]

	Cloverleaf skull anomaly and de novo trisomy 4p D DE BRASI, L PERONE, P DI MICCO, G ANDRIA, G SEBASTIO, E IACCARINO, L PINTO, and F ALIBERTI J Med Genet 1999; 36: 422-424. doi:10.1136/jmg.36.5.422 [Extract] [Full text] [Request Permissions]