CLINICAL

Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
L I Al-Gazali, L Sztriha, J Punnose, W Shather, M Nork

Journal of Medical Genetics Feb 1999, 36 (2) 161-166; DOI: 10.1136/jmg.36.2.161
Dilemmas in counselling females with the fragile X syndrome
Bert B A de Vries, Hanneke M A van den Boer-van den Berg, Martinus F Niermeijer, Aad Tibben

Journal of Medical Genetics Feb 1999, 36 (2) 167-170; DOI: 10.1136/jmg.36.2.167
Polymorphisms in PTEN in breast cancer families
Bryan T Carroll, Fergus J Couch, Timothy R Rebbeck, Barbara L Weber

Journal of Medical Genetics Feb 1999, 36 (2) 94-96; DOI: 10.1136/jmg.36.2.94
A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer
Nicola J Froggatt, Jane Green, Cecilia Brassett, D Gareth R Evans, D Timothy Bishop, Richard Kolodner, Eamonn R Maher

Journal of Medical Genetics Feb 1999, 36 (2) 97-102; DOI: 10.1136/jmg.36.2.97
Spinal muscular atrophy: untangling the knot?
Ivan Biros, Susan Forrest

Journal of Medical Genetics Jan 1999, 36 (1) 1-8; DOI: 10.1136/jmg.36.1.1
Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
Yvonne L Wallis, Dion G Morton, Carole M McKeown, Fiona Macdonald

Journal of Medical Genetics Jan 1999, 36 (1) 14-20; DOI: 10.1136/jmg.36.1.14
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)
Peining Li, Amy B Bellows, Jerry N Thompson

Journal of Medical Genetics Jan 1999, 36 (1) 21-27; DOI: 10.1136/jmg.36.1.21
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel α-N-acetylglucosaminidase gene mutations
Susanna Bunge, Astrid Knigge, Cordula Steglich, Wim J Kleijer, Otto P van Diggelen, Michael Beck, Andreas Gal

Journal of Medical Genetics Jan 1999, 36 (1) 28-32; DOI: 10.1136/jmg.36.1.28
Cystic fibrosis carrier frequencies in populations of African origin
Carolyn Padoa, Andrea Goldman, Trefor Jenkins, Michele Ramsay

Journal of Medical Genetics Jan 1999, 36 (1) 41-44; DOI: 10.1136/jmg.36.1.41
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
Clare M Conn, Jean Cozzi, Joyce C Harper, Robert M L Winston, Joy D A Delhanty

Journal of Medical Genetics Jan 1999, 36 (1) 45-50; DOI: 10.1136/jmg.36.1.45

Main menu

CLINICAL

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

CLINICAL

Pages