Diagnostics

A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities
Iradj Amirlak, Sharda G Sabnis, Lihadh Al-Gazali, Yousef M Abdulrazzaq

Journal of Medical Genetics Aug 1999, 36 (8) 641-644; DOI: 10.1136/jmg.36.8.641
Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
Pascale Richard, Richard Isnard, Lucie Carrier, Olivier Dubourg, Yves Donatien, Bénédicte Mathieu, Gisèle Bonne, Françoise Gary, Philippe Charron, Albert Hagege, Michel Komajda, Ketty Schwartz, Bernard Hainque

Journal of Medical Genetics Jul 1999, 36 (7) 542-545; DOI: 10.1136/jmg.36.7.542
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Pekka Arvio, Maria Arvio, Matti Kero, Sinikka Pirinen, Pirjo-Liisa Lukinmaa

Journal of Medical Genetics May 1999, 36 (5) 398-404; DOI: 10.1136/jmg.36.5.398
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families
Virginia Barone, Ornella Massa, Elena Intravaia, Adele Bracco, Antonella Di Martino, Vincenzo Tegazzin, Santolo Cozzolino, Vincenzo Sorrentino

Journal of Medical Genetics Feb 1999, 36 (2) 115-118; DOI: 10.1136/jmg.36.2.115
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
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
Anomalous right pulmonary artery origins in association with the fetal valproate syndrome
C N Mo, E J Ladusans

Journal of Medical Genetics Jan 1999, 36 (1) 83-84; DOI: 10.1136/jmg.36.1.83
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
Elisabeth Lajeunie, Vincent El Ghouzzi, Martine Le Merrer, Arnold Munnich, Jacky Bonaventure, Dominique Renier

Journal of Medical Genetics Jan 1999, 36 (1) 9-13; DOI: 10.1136/jmg.36.1.9

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