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Items: 1 to 20 of 206

1.

Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).

Capurso G, Sbrozzi-Vanni A, Piane M, Begini P, Panzuto F, Libi F, Margagnoni G, Capotondi C, Marignani M, Chessa L, Delle Fave G.

Pancreas. 2009 Jul;38(5):599-601. doi: 10.1097/MPA.0b013e3181967657. No abstract available.

PMID:
19550280
2.

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.

Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I.

J Med Genet. 2000 Apr;37(4):307-9. No abstract available.

3.

Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype.

Yalçin E, Ozçelik U, Yilmaz E, Doğru D, Kiper N, Ferec C.

Turk J Pediatr. 2008 Jul-Aug;50(4):383-5.

PMID:
19014055
4.

Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.

Bienvenu T, Beldjord C, Kaplan JC, Hubert D, Dusser D.

J Med Genet. 1995 Nov;32(11):919. No abstract available.

5.

Relationship between genotype and phenotype for the CFTR gene W846X mutation.

Duguépéroux I, Bellis G, Férec C, Gillet D, Scotet V, De Braekeleer M; Participating centres of the French CF registry..

J Med Genet. 2002 Jun;39(6):E32. No abstract available.

6.

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.

Reboul MP, Bieth E, Fayon M, Biteau N, Barbier R, Dromer C, Desgeorges M, Claustres M, Bremont F, Lacombe D, Iron A.

J Med Genet. 2002 Nov;39(11):e73. No abstract available.

7.

Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.

Hojo S, Fujita J, Miyawaki H, Obayashi Y, Takahara J, Bartholomew DW.

Clin Genet. 1998 Jan;53(1):50-3.

PMID:
9550362
8.

Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype.

Castaldo G, Fuccio A, Salvatore D, Raia V, Santostasi T, Leonardi S, Lizzi N, La Rosa M, Rigillo N, Salvatore F.

Am J Med Genet. 2001 Feb 1;98(4):294-7.

PMID:
11170070
9.

[Cystic fibrosis: relationship between genotype and phenotype].

Bienvenu T.

Arch Pediatr. 2003 Sep;10 Suppl 2:318s-324s. Review. French.

PMID:
14671928
10.

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

Casals T, Ramos MD, Giménez J, Nadal M, Nunes V, Estivill X.

Hum Mutat. 1998;Suppl 1:S99-102. No abstract available.

PMID:
9452054
11.
12.

Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis.

Cremonesi L, Cainarca S, Rossi A, Padoan R, Ferrari M.

Hum Genet. 1996 Jul;98(1):119-21.

PMID:
8682497
13.

Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype.

Frossard PM, Abdelaziz SA, Hertecant J, Girodon E, Goossens M, Dawson KP.

Clin Genet. 2000 Aug;58(2):147-9. No abstract available.

PMID:
11005149
14.

Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis.

Schrijver I, Karnsakul W, Limwongse C, Ramalingam S, Sankaran R, Gardner P, Moss R.

Am J Med Genet A. 2005 Feb 15;133A(1):103-5. No abstract available.

PMID:
15744829
15.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-Frías J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dörk T, Tümmler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Féréc C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J.

J Med Genet. 2001 Nov;38(11):777-83. No abstract available.

16.
17.

Genotype-phenotype correlations in cystic fibrosis.

Kerem E, Kerem B.

Pediatr Pulmonol. 1996 Dec;22(6):387-95. Review. No abstract available.

PMID:
9016472
18.

Cystic fibrosis: a further case of an asymptomatic compound heterozygote.

White SM, Lucassen A, Norbury G.

Am J Med Genet. 2001 Nov 1;103(4):342-3. No abstract available.

PMID:
11746017
19.

Genotype--phenotype correlations: where are we?

Lenaerts C.

Pediatr Pulmonol Suppl. 1997;16:233-4. Review. No abstract available.

PMID:
9443289
20.

The expanding phenotype of cystic fibrosis.

Smith JM, Kirk EP.

Med J Aust. 2004 Nov 1;181(9):514. No abstract available.

PMID:
15516201

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