03.04.2015 Views

tratado_fibro_quistica

tratado_fibro_quistica

tratado_fibro_quistica

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

168 TRASTORNOS RELACIONADOS CON CFTR<br />

Bibliografía<br />

1. Rommens JM, Iannuzzi MC, Kerem B,<br />

Drumm ML, Melmer G, Dean M, et al.<br />

Identification of the cystic <strong>fibro</strong>sis gene:<br />

chromosome walking and jumping. Science.<br />

1989;245(4922):1059-65.<br />

2. Riordan JR, Rommens JM, Kerem B, Alon N,<br />

Rozmahel R, Grzelczak Z, et al. Identification<br />

of the cystic <strong>fibro</strong>sis gene: cloning and<br />

characterization of complementary DNA.<br />

Science. 1989;245(4922):1066-73.<br />

3. Kerem B, Rommens JM, Buchanan JA,<br />

Markiewicz D, Cox TK, Chakravarti A, et al.<br />

Identification of the cystic <strong>fibro</strong>sis gene: genetic<br />

analysis. Science. 1989;245(4922):1073-80.<br />

4. Castellani C, Cuppens H, Macek M Jr,<br />

Cassiman JJ, Kerem E, Durie P, et al.<br />

Consensus on the use and interpretation of<br />

cystic <strong>fibro</strong>sis mutation analysis in clinical<br />

practice. J Cyst Fibros. 2008;7(3):179-96.<br />

5. Zielenski J. Genotype and phenotype in cystic<br />

<strong>fibro</strong>sis. Respiration. 2000;67(2):117-33.<br />

6. Rosenstein BJ, Cutting GR. The diagnosis of<br />

cystic <strong>fibro</strong>sis: a consensus statement. Cystic<br />

Fibrosis Foundation Consensus Panel. J Pediatr.<br />

1998;132(4):589-95.<br />

7. Chillon M, Casals T, Mercier B, Bassas L,<br />

Lissens W, Silber S, et al. Mutations in<br />

the cystic <strong>fibro</strong>sis gene in patients with<br />

congenital absence of the vas deferens. N<br />

Engl J Med. 1995;332(22):1475-80.<br />

8. Cohn J A, Friedman K J, Noone PG, Knowles<br />

MR, Silverman LM, Jowell PS. Relation between<br />

mutations of the cystic <strong>fibro</strong>sis gene and<br />

idiopathic pancreatitis. N Engl J Med.<br />

1998;339(10):653-8.<br />

9. Sharer N, Schwarz M, Malone G, Howarth<br />

A, Painter J, Super M, et al. Mutations<br />

of the cystic <strong>fibro</strong>sis gene in patients<br />

with chronic pancreatitis. N Engl J Med.<br />

1998;339(10):645-52.<br />

10. Castellani C, Gomez Lira M, Frulloni L, Delmarco<br />

A, Marzari M, Bonizzato A, et al. Analysis of<br />

the entire coding region of the cystic <strong>fibro</strong>sis<br />

transmembrane regulator gene in idiopathic<br />

pancreatitis. Hum Mutat. 2001;18(2):166.<br />

11. Ranieri E, Ryall RG, Lewis BD, Gerace RL,<br />

Morris CP, Nelson PV, et al. Neonatal screening<br />

for cystic <strong>fibro</strong>sis using immunoreactive<br />

trypsinogen and direct gene analysis. BMJ.<br />

1991;302(6787):1237-40.<br />

12. Laroche D, Travert G. Abnormal frequency of<br />

DF508 in neonatal transitory hypertrypsinaemia.<br />

Lancet. 1991;337(8732):55.<br />

13. Lecoq I, Brouard J, Laroche D, Férec C, Travert<br />

G. Blood immunoreactive trypsinogen concentrations<br />

are genetically determined in<br />

healthy and cystic <strong>fibro</strong>sis newborns. Acta<br />

Paediatr. 1999;88(3):338-41.<br />

14. Castellani C, Picci L, Scarpa M, Dechecchi<br />

MC, Zanolla L, Assael BM, et al. Cystic <strong>fibro</strong>sis<br />

carriers have higher neonatal immunoreactive<br />

trypsinogen values than non-carriers. Am J<br />

Med Genet A. 2005;135(2):142-4.<br />

15. Castellani C, Benetazzo MG, Tamanini<br />

A, Begnini A, Mastella G, Pignatti PF.<br />

Analysis of the entire coding region of the<br />

cystic <strong>fibro</strong>sis transmembrane regulator<br />

gene in neonatal hypertrypsinemia<br />

with normal sweat test. J Med Genet.<br />

2001;38(3):202-5.<br />

16. Pignatti PF, Bombieri C, Marigo C, Benetazzo<br />

M, Luisetti M. Increased incidence of cystic<br />

<strong>fibro</strong>sis gene mutations in adults with<br />

disseminated bronchiectasis. Hum Mol<br />

Genet. 1995;4(4):635-9.<br />

17. Wang X, Moylan B, Leopold DA, Kim J,<br />

Rubenstein RC, Togias A, et al. Mutation<br />

in the gene responsible for cystic <strong>fibro</strong>sis<br />

and predisposition to chronic rhinosinusitis<br />

in the general population. JAMA.<br />

2000;284(14):1814-9.<br />

18. Miller PW, Hamosh A, Macek M Jr,<br />

Greenberger PA, MacLean J, Walden SM, et al.<br />

Cystic <strong>fibro</strong>sis transmembrane conductance<br />

regulator (CFTR) gene mutations in allergic<br />

bronchopulmonary aspergillosis. Am J Hum<br />

Genet. 1996;59(1):45-51.<br />

19. Di Sant’Agnese PA, Darling RC, Perera GA,<br />

Shea E. Abnormal electrolyte composition<br />

of sweat in cystic <strong>fibro</strong>sis of the pancreas;<br />

clinical significance and relationship to the<br />

disease. Pediatrics. 1953;12(5):549-63.<br />

20. Quinton PM. Chloride impermeability in cystic<br />

<strong>fibro</strong>sis. Nature. 1983;301(5899):421-2.<br />

21. Anderson MP, Gregory RJ, Thompson<br />

S, Souza DW, Paul S, Mulligan RC, et al.<br />

Demonstration that CFTR is a chloride<br />

channel by alteration of its anion selectivity.<br />

Science. 1991;253(5016):202-5.<br />

22. Association of Clinical Biochemistry.<br />

Guidelines for the performance of the sweat<br />

test for the investigation of cystic <strong>fibro</strong>sis<br />

in the UK, Report from the Multidisciplinary<br />

Working Group, 2002. Available at http://<br />

www.acb.org.uk.<br />

23. National Committee for Clinical Laboratory<br />

Standards (NCCLS). Sweat testing: sample<br />

collection and quantitative analysis, Approved<br />

guideline C34-A2. Wayne, PA: NCCLS, 2000.<br />

24. Farrell PM, Koscik RE. Sweat chloride<br />

concentrations in infants homozygous<br />

or heterozygous for F508 cystic <strong>fibro</strong>sis.<br />

Pediatrics. 1996;97(4):524-8.<br />

25. Groman JD, Karczeski B, Sheridan M, Robinson<br />

TE, Fallin MD, Cutting GR. Phenotypic and<br />

genetic characterization of patients with<br />

features of “nonclassic” forms of cystic<br />

<strong>fibro</strong>sis. J Pediatr. 2005;146(5):675-80.<br />

26. Farrell PM, Rosenstein BJ, White TB, Accurso<br />

FJ, Castellani C, Cutting GR, et al. Cystic<br />

Fibrosis Foundation. Guidelines for diagnosis<br />

of cystic <strong>fibro</strong>sis in newborns through older<br />

adults: Cystic Fibrosis Foundation consensus<br />

report. J Pediatr. 2008;153(2):S4-S14.<br />

27. Sosnay PR, Castellani C, Corey M, Dorfman<br />

R, Zielenski J, Karchin R, et al. Evaluation<br />

of the disease liability of CFTR variants.<br />

Methods Mol Biol. 2011;742:355-72.<br />

28. Knowles M, Gatzy J, Boucher R. Increase<br />

bioelectric potential difference across<br />

respiratory epithelia in cystic <strong>fibro</strong>sis. N Engl J<br />

Med. 1981;305(25):1489-95.<br />

29. Pradal U, Castellani C, Delmarco A, Mastella<br />

G. Nasal potential difference in congenital<br />

bilateral absence of the vas deferens. Am J<br />

Respir Crit Care Med. 1998;158(3):896-<br />

901.<br />

30. Groman JD, Meyer ME, Wilmott RW, Zeitlin PL,<br />

Cutting GR. Variant cystic <strong>fibro</strong>sis phenotypes<br />

in the absence of CFTR mutations. N Engl J<br />

Med. 2002;347(6):401-7.<br />

31. Boyle MP. Nonclassic cystic <strong>fibro</strong>sis and<br />

CFTR-related diseases. Curr Opin Pulm Med.<br />

2003;9(6):498-503.<br />

32. Bombieri C, Claustres M, De Boeck K,<br />

Derichs N, Dodge J, Girodon E, et al.<br />

Recommendations for the classification of<br />

diseases as cftr-related disorders. J Cyst<br />

Fibros. 2011;10 Suppl 2:S86-102.<br />

33. Borowitz D, Parad RB, Sharp JK, Sabadosa<br />

KA, Robinson KA, Rock MJ, et al. Cystic<br />

Fibrosis Foundation practice guidelines for<br />

the management of infants with cystic <strong>fibro</strong>sis<br />

transmembrane conductance regulator-related<br />

metabolic syndrome during the<br />

first two years of life and beyond. J Pediatr.<br />

2009;155(6 Suppl):S106-16.

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!