1029 related articles for article (PubMed ID: 9499426)
21. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C; Munck A; Huet F; de Becdelièvre A; Jimenez C; Lalau G; Gautier E; Rollet J; Flori J; Nové-Josserand R; Soufir JC; Haloun A; Hubert D; Houssin E; Bellis G; Rault G; David A; Janny L; Chiron R; Rives N; Hairion D; Collignon P; Valeri A; Karsenty G; Rossi A; Audrézet MP; Férec C; Leclerc J; Georges Md; Claustres M; Bienvenu T; Gérard B; Boisseau P; Cabet-Bey F; Cheillan D; Feldmann D; Clavel C; Bieth E; Iron A; Simon-Bouy B; Izard V; Steffann J; Viville S; Costa C; Drouineaud V; Fauque P; Binquet C; Bonithon-Kopp C; Morris MA; Faivre L; Goossens M; Roussey M; Girodon E;
J Med Genet; 2013 Apr; 50(4):220-7. PubMed ID: 23378603
[TBL] [Abstract][Full Text] [Related]
22. Sweat chloride and immunoreactive trypsinogen in infants carrying two
Castellani C; Tridello G; Tamanini A; Assael BM
Arch Dis Child; 2017 Jul; 102(7):644-646. PubMed ID: 26755536
[TBL] [Abstract][Full Text] [Related]
23. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
Wilschanski M; Dupuis A; Ellis L; Jarvi K; Zielenski J; Tullis E; Martin S; Corey M; Tsui LC; Durie P
Am J Respir Crit Care Med; 2006 Oct; 174(7):787-94. PubMed ID: 16840743
[TBL] [Abstract][Full Text] [Related]
24. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data.
Derichs N; Sanz J; Von Kanel T; Stolpe C; Zapf A; Tümmler B; Gallati S; Ballmann M
Thorax; 2010 Jul; 65(7):594-9. PubMed ID: 20627915
[TBL] [Abstract][Full Text] [Related]
25. Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation.
Epaud R; Girodon E; Corvol H; Niel F; Guigonis V; Clement A; Feldmann D; Bensman A; Ulinski T
Clin Genet; 2005 Dec; 68(6):552-3. PubMed ID: 16283887
[No Abstract] [Full Text] [Related]
26. Selective activation of cystic fibrosis transmembrane conductance regulator Cl- and HCO3- conductances.
Reddy MM; Quinton PM
JOP; 2001 Jul; 2(4 Suppl):212-8. PubMed ID: 11875262
[TBL] [Abstract][Full Text] [Related]
27. Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.
Ziedalski TM; Kao PN; Henig NR; Jacobs SS; Ruoss SJ
Chest; 2006 Oct; 130(4):995-1002. PubMed ID: 17035430
[TBL] [Abstract][Full Text] [Related]
28. Refining the continuum of CFTR-associated disorders in the era of newborn screening.
Levy H; Nugent M; Schneck K; Stachiw-Hietpas D; Laxova A; Lakser O; Rock M; Dahmer MK; Biller J; Nasr SZ; Baker M; McColley SA; Simpson P; Farrell PM
Clin Genet; 2016 May; 89(5):539-49. PubMed ID: 26671754
[TBL] [Abstract][Full Text] [Related]
29. In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.
McGarry ME; Illek B; Ly NP; Zlock L; Olshansky S; Moreno C; Finkbeiner WE; Nielson DW
Pediatr Pulmonol; 2017 Apr; 52(4):472-479. PubMed ID: 28068001
[TBL] [Abstract][Full Text] [Related]
30. CFTR genotypes in patients with normal or borderline sweat chloride levels.
Feldmann D; Couderc R; Audrezet MP; Ferec C; Bienvenu T; Desgeorges M; Claustres M; Mittre H; Blayau M; Bozon D; Malinge MC; Monnier N; Bonnefont JP; Iron A; Bieth E; Dumur V; Clavel C; Cazeneuve C; Girodon E
Hum Mutat; 2003 Oct; 22(4):340. PubMed ID: 12955726
[TBL] [Abstract][Full Text] [Related]
31. A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.
Kerem E; Rave-Harel N; Augarten A; Madgar I; Nissim-Rafinia M; Yahav Y; Goshen R; Bentur L; Rivlin J; Aviram M; Genem A; Chiba-Falek O; Kraemer MR; Simon A; Branski D; Kerem B
Am J Respir Crit Care Med; 1997 Jun; 155(6):1914-20. PubMed ID: 9196095
[TBL] [Abstract][Full Text] [Related]
32. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
Cohn JA; Friedman KJ; Noone PG; Knowles MR; Silverman LM; Jowell PS
N Engl J Med; 1998 Sep; 339(10):653-8. PubMed ID: 9725922
[TBL] [Abstract][Full Text] [Related]
33. Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
Pagin A; Sermet-Gaudelus I; Burgel PR
Arch Pediatr; 2020 Feb; 27 Suppl 1():eS25-eS29. PubMed ID: 32172933
[TBL] [Abstract][Full Text] [Related]
34. Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children.
Lebecque P; Leal T; De Boeck C; Jaspers M; Cuppens H; Cassiman JJ
Am J Respir Crit Care Med; 2002 Mar; 165(6):757-61. PubMed ID: 11897640
[TBL] [Abstract][Full Text] [Related]
35. Nasal potential difference in congenital bilateral absence of the vas deferens.
Pradal U; Castellani C; Delmarco A; Mastella G
Am J Respir Crit Care Med; 1998 Sep; 158(3):896-901. PubMed ID: 9731023
[TBL] [Abstract][Full Text] [Related]
36. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.
Sermet-Gaudelus I; Girodon E; Roussel D; Deneuville E; Bui S; Huet F; Guillot M; Aboutaam R; Renouil M; Munck A; des Georges M; Iron A; Thauvin-Robinet C; Fajac I; Lenoir G; Roussey M; Edelman A
Thorax; 2010 Jun; 65(6):539-44. PubMed ID: 20522854
[TBL] [Abstract][Full Text] [Related]
37. [Cystic fibrosis: molecular update and clinical implications].
Orozco L; Chávez M; Saldaña Y; Velázquez R; Carnevale A; González-del Angel A; Jiménez S
Rev Invest Clin; 2006; 58(2):139-52. PubMed ID: 16827266
[TBL] [Abstract][Full Text] [Related]
38. Sweat gland bioelectrics differ in cystic fibrosis: a new concept for potential diagnosis and assessment of CFTR function in cystic fibrosis.
Gonska T; Ip W; Turner D; Han WS; Rose J; Durie P; Quinton P
Thorax; 2009 Nov; 64(11):932-8. PubMed ID: 19734129
[TBL] [Abstract][Full Text] [Related]
39. [The diagnosis of cystic fibrosis in adults: lessons from a family story].
Coman T; Fajac I; Bienvenu T; Desmazes-Dufeu N; Hubert D; Kanaan R; Dusser D; Burgel PR
Rev Mal Respir; 2009 Jan; 26(1):67-73. PubMed ID: 19212293
[TBL] [Abstract][Full Text] [Related]
40. N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.
Van Hoorenbeeck K; Storm K; van den Ende J; Biervliet M; Desager KN
J Cyst Fibros; 2007 May; 6(3):220-2. PubMed ID: 17127107
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
