[图书][B] Human genetics: the basics

R Lewis - 2010 - taylorfrancis.com
Human genetics has blossomed from an obscure branch of biological science and
occasional explanation for exceedingly rare disorders to a field all of its own that affects …

Molecular basis of cystic fibrosis disease: an Indian perspective

R Prasad, H Sharma, G Kaur - Indian Journal of Clinical Biochemistry, 2010 - Springer
Cystic fibrosis is a common autosomal recessive disorder usually found in population of
white Caucasian descent. Now it is well documented the presence of CF disease in India …

Identification of species of the Burkholderia cepacia complex by sequence analysis of the hisA gene

MC Papaleo, E Perrin, I Maida… - Journal of medical …, 2010 - microbiologyresearch.org
Bacteria of the Burkholderia cepacia complex (Bcc) are opportunistic human pathogens that
can cause serious infections in the lungs of cystic fibrosis patients. The Bcc is a complex …

Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis

S Chandrasekharan, C Heaney, T James… - Genetics in …, 2010 - nature.com
Cystic fibrosis is one of the most commonly tested autosomal recessive disorders in the
United States. Clinical cystic fibrosis is associated with mutations in the CFTR gene, of which …

Joint linkage and segregation analysis under multiallelic trait inheritance: simplifying interpretations for complex traits

EA Rosenthal, EM Wijsman - Genetic epidemiology, 2010 - Wiley Online Library
Identification of the genetic basis of common traits may be hindered by underlying complex
genetic architectures that are inadequately captured by existing models, including both …

[HTML][HTML] Fibrosis quística: Diagnóstico tardío en el adulto presentación de caso

M Fernández Fernández, A Jané Lara… - Revista Habanera de …, 2010 - scielo.sld.cu
Se presenta el caso de un paciente blanco de 47 años con cuadros respiratorios a
repetición que cedían con tratamiento sintomático o con el uso de antibióticos por vía oral …

[图书][B] Living at the edge: Narratives of young people surviving cystic fibrosis

MD Dalziel - 2010 - search.proquest.com
This study discusses the narratives of twenty-one young people living with a genetic disease
called Cystic fibrosis (CF). It explores how these young people take up subject positions and …

[HTML][HTML] Procedencia de pacientes diagnosticados en la Unidad Proyecto Aragua: importancia para el programa de fibrosis quística

L Osorio, D Vivas, JS Lira, S Sánchez, M Rolo… - Comunidad y …, 2010 - ve.scielo.org
La fibrosis quística es una enfermedad con patrón de herencia autosómico recesivo que
afecta los sistemas respiratorio y digestivo en forma crónica y casi siempre subletal. En …

[PDF][PDF] A capnografia volumétrica na avaliação da doença pulmonar em pacientes adultos com fibrose cística e pacientes bronquectásicos não fibrocísticos

LF Veronez - 2010 - repositorio.unicamp.br
Objetivos: O objetivo geral deste trabalho foi estudar o uso da capnogragfia volumétrica na
avaliação de pacientes portadores de bronquectasias, relacionadas ou não à fibrose cística …

[PDF][PDF] Nähere Charakterisierung der Zucht des Mausstammes Cftrtm1Unc-Tg (FABPCFTR) 1Jaw/J, sowie Evaluation eines oralen Inokulationsmodells mit …

I Glass - 2010 - d-nb.info
Bei Patienten mit der monogenen Erbkrankheit Mukoviszidose gilt die chronische Infektion
der Lunge mit dem Bakterium Pseudomonas aeruginosa als führende Todesursache (PAUL …