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Similar articles for PubMed (Select 15332739)

1.

Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G).

Dawson KP, Frossard PM, Al-Awar B.

East Mediterr Health J. 2001 Nov;7(6):975-80.

PMID:
15332739
2.

Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G).

Frossard PM, Bakalinova D, Hertecant J, Bossaert Y, Dawson KP.

J Trop Pediatr. 1999 Jun;45(3):158-60.

PMID:
10401194
3.

Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R(T-->G).

Frossard PM, Hertecant J, Bossaert Y, Dawson KP.

Eur Respir J. 1999 Jan;13(1):100-2.

4.

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.

Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, Yahav Y, Szeinberg A, Hiba O, Branski D, Corey M, Kerem B.

Pediatrics. 1997 Sep;100(3):E5.

PMID:
9271620
5.

3120+1 G-->A: a rare variant in Emirati CF patients.

Saleheen D, Frossard PM.

J Coll Physicians Surg Pak. 2006 Feb;16(2):139-40.

PMID:
16499810
6.

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

Romey MC, Guittard C, Chazalette JP, Frossard P, Dawson KP, Patton MA, Casals T, Bazarbachi T, Girodon E, Rault G, Bozon D, Seguret F, Demaille J, Claustres M.

Hum Genet. 1999 Jul-Aug;105(1-2):145-50.

PMID:
10480369
7.

Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. Online.

Frossard PM, Girodon E, Dawson KP, Ghanem N, Plassa F, Lestringant GG, Goossens M.

Hum Mutat. 1998;11(5):412-3.

PMID:
10206682
8.

Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.

Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A.

Chest. 2000 Dec;118(6):1591-7.

PMID:
11115444
9.

[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].

Iwańczak F, Smigiel R, Stawarski A, Pawłowicz J, Stembalska A, Mowszet K, Sasiadek M.

Pol Merkur Lekarski. 2005 Feb;18(104):205-9. Polish.

PMID:
17877132
10.

Aquagenic wrinkling of the palms in cystic fibrosis: comparison with controls and genotype-phenotype correlations.

Berk DR, Ciliberto HM, Sweet SC, Ferkol TW, Bayliss SJ.

Arch Dermatol. 2009 Nov;145(11):1296-9. doi: 10.1001/archdermatol.2009.260.

PMID:
19917960
11.

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.

Wilschanski M, Zielenski J, Markiewicz D, Tsui LC, Corey M, Levison H, Durie PR.

J Pediatr. 1995 Nov;127(5):705-10.

PMID:
7472820
12.
13.

Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.

Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tümmler B.

Twin Res. 2000 Dec;3(4):277-93.

PMID:
11463149
14.

The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype.

Augarten A, Ben Tov A, Madgar I, Barak A, Akons H, Laufer J, Efrati O, Aviram M, Bentur L, Blau H, Paret G, Wilschanski M, Kerem BS, Yahav Y.

Eur J Gastroenterol Hepatol. 2008 Mar;20(3):164-8. doi: 10.1097/MEG.0b013e3282f36d04.

PMID:
18301294
15.

Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.

Duguépéroux I, De Braekeleer M; Participating Centres to the French National Cystic Fibrosis Registry.

J Cyst Fibros. 2004 Dec;3(4):259-63.

16.

[3120+1kbdel8.6kb]+[p.N1303K] genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs.

Saleheen D, Frossard PM, Girodon E.

J Ayub Med Coll Abbottabad. 2006 Jul-Sep;18(3):69-71.

PMID:
17348320
17.

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.

Casals T, Pacheco P, Barreto C, Giménez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vázquez C, Rocha H, Séculi JL, Pérez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X.

Hum Mutat. 1997;10(5):387-92.

PMID:
9375855
18.

Clinical and genetic risk factors for cystic fibrosis-related liver disease.

Wilschanski M, Rivlin J, Cohen S, Augarten A, Blau H, Aviram M, Bentur L, Springer C, Vila Y, Branski D, Kerem B, Kerem E.

Pediatrics. 1999 Jan;103(1):52-7.

PMID:
9917439
19.
20.

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes.

Sontag MK, Hammond KB, Zielenski J, Wagener JS, Accurso FJ.

J Pediatr. 2005 Sep;147(3 Suppl):S83-8.

PMID:
16202790
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