Genetic screening / counselling

Contributing journals to this collection:
Archives of Disease in Childhood - Education and Practice, Archives of Disease in Childhood - Fetal and Neonatal Edition, and Archives of Disease in Childhood

Citations 31-40 of 40 total displayed.

Original articles
Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families

J M Savage, J A Jefferson, A P Maxwell, A E Hughes, J H Shanks, and D Gill
Arch. Dis. Child. 1999; 80: 466-469. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Hereditary pancreatitis and mutation of the trypsinogen gene

P Weber, V Keim, and K P Zimmer
Arch. Dis. Child. 1999; 80: 473-474. [Abstract] [Full text] [PDF] [Request Permissions]  

Special reports
Recommendations for the management of galactosaemia • Commentary

J H Walter, J E Collins, J V Leonard;, M CHISWICK, and H MARCOVITCH
Arch. Dis. Child. 1999; 80: 93-96. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry

Peter T Clayton, Mira Doig, Soudabeh Ghafari, Cathy Meaney, Catherine Taylor, James V Leonard, Michael Morris, and Andrew W Johnson
Arch. Dis. Child. 1998; 79: 109-115. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
X linked lymphoproliferative disease in a United Kingdom family

Peter D Arkwright, Guy Makin, Andrew M Will, Michelle Ayres, David A Gokhale, William D Fergusson, and G Malcolm Taylor
Arch. Dis. Child. 1998; 79: 52-55. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia

K A Matyka, F Beards, M Appleton, S Ellard, A Hattersley, and D B Dunger
Arch. Dis. Child. 1998; 78: 552-554. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly

Otfried Debus, Hans Georg Koch, Gerhard Kurlemann, Ronald Sträter, Heinrich Vielhaber, Peter Weber, and Ulrike Nowak-Göttl
Arch. Dis. Child. Fetal Neonatal Ed. 1998; 78: F121-F124. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Mutation analysis in 46 British and Irish patients with Gaucher's disease

C E Hatton, A Cooper, C Whitehouse, and J E Wraith
Arch. Dis. Child. 1997; 77: 17-22. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Phenotypic diversity in siblings with partial androgen insensitivity syndrome

B A J Evans, I A Hughes, C L Bevan, M N Patterson, and J W Gregory
Arch. Dis. Child. 1997; 76: 529-531. [Abstract] [Full text] [PDF] [Request Permissions]  

Current topics
F508 in cystic fibrosis: willing but not able

Kevin W Southern
Arch. Dis. Child. 1997; 76: 278-282. [Extract] [Full text] [PDF] [Request Permissions]