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 1-10 of 40 total displayed.

Short report
Bannayan–Riley–Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay

N E Lynch, S A Lynch, J McMenamin, and D Webb
Arch. Dis. Child. 2009 94: 553 -554; published online before print as 10.1136/adc.2008.155663 [Abstract] [Full text] [PDF] [Request Permissions]  

Guideline review
Hypercholesterolaemia in children guidelines review

J H Baumer and J P H Shield
Arch. Dis. Child. Ed. Pract. 2009; 94: 84-86. [Extract] [Full text] [PDF] [Request Permissions]  

Leading articles
The search for new asthma phenotypes

J Henderson, R Granell, and J Sterne
Arch. Dis. Child. 2009 94: 333 -336; published online before print as 10.1136/adc.2008.143636 [Extract] [Full text] [PDF] [Request Permissions]  

Case reports
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

N-C Lee, D Dimmock, W-L Hwu, L-Y Tang, W-C Huang, A C Chinault, and L-J C Wong
Arch. Dis. Child. 2009; 94: 55-58. [Abstract] [Full text] [PDF] [Request Permissions]  

Images in paediatrics
Lateral deviation of toes requires lateral thinking

J Mangalore Devdas, Q Campbell-Hewson, M Friswell, A Gupta, T Featherstone, A Cooke, G DeKiewiet, and N W Hopper
Arch. Dis. Child. 2009; 94: 69. [Extract] [Full text] [PDF] [Request Permissions]  

Case reports
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase (POLG1)

R McFarland, G Hudson, R W Taylor, S H Green, S Hodges, P J McKiernan, P F Chinnery, and V Ramesh
Arch. Dis. Child. 2008; 93: 151-153. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Bacteraemia in homozygous sickle cell disease in Africa: is pneumococcal prophylaxis justified?

M E Kizito, E Mworozi, C Ndugwa, and G R Serjeant
Arch. Dis. Child. 2007 92: 21 -23; published online before print as 10.1136/adc.2005.088807 [Abstract] [Full text] [PDF] [Request Permissions]  

Acute paediatrics
Isoniazid pharmacokinetics in children treated for respiratory tuberculosis

H S Schaaf, D P Parkin, H I Seifart, C J Werely, P B Hesseling, P D van Helden, J S Maritz, and P R Donald
Arch. Dis. Child. 2005; 90: 614-618. [Abstract] [Full text] [PDF] [Request Permissions]  

Community child health, public health, and epidemiology
High tolerance for oral galactose in classical galactosaemia: dietary implications

A M Bosch, H D Bakker, L J M de B Wenniger-Prick, R J A Wanders, and F A Wijburg
Arch. Dis. Child. 2004; 89: 1034-1036. [Abstract] [Full text] [PDF] [Request Permissions]  

Acute paediatrics
Sickle cell disease pain in London and the Caribbean

S Chakravorty, K Newell, J Ramchandani, K Qureshi, R Ibrahim, B Datta, and P T Telfer
Arch. Dis. Child. 2004; 89: 272-273. [Extract] [Full text] [PDF] [Request Permissions]