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Items: 1 to 20 of 141

1.

p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?

Martinez B, Heller M, Gaitch N, Hubert D, Burgel PR, Levy P, Girodon E, Bienvenu T.

J Hum Genet. 2014 Apr;59(4):206-10. doi: 10.1038/jhg.2014.2. Epub 2014 Jan 23.

PMID:
24451227
2.

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K.

Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Erratum in: Hum Mutat. 2012 Feb;33(2):456. Lühr, Matthias [corrected to Löhr, Matthias].

PMID:
21520337
3.

Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

Schneider A, Larusch J, Sun X, Aloe A, Lamb J, Hawes R, Cotton P, Brand RE, Anderson MA, Money ME, Banks PA, Lewis MD, Baillie J, Sherman S, Disario J, Burton FR, Gardner TB, Amann ST, Gelrud A, George R, Rockacy MJ, Kassabian S, Martinson J, Slivka A, Yadav D, Oruc N, Barmada MM, Frizzell R, Whitcomb DC.

Gastroenterology. 2011 Jan;140(1):162-71. doi: 10.1053/j.gastro.2010.10.045. Epub 2010 Oct 25.

4.

Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.

Weiss FU, Simon P, Bogdanova N, Mayerle J, Dworniczak B, Horst J, Lerch MM.

Gut. 2005 Oct;54(10):1456-60. Epub 2005 Jun 29.

5.

Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.

Sharma H, Mavuduru RS, Singh SK, Prasad R.

Mol Hum Reprod. 2014 Sep;20(9):827-35. doi: 10.1093/molehr/gau047. Epub 2014 Jun 23.

PMID:
24958810
6.
7.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.

Gajbhiye R, Kadam K, Khole A, Gaikwad A, Kadam S, Shah R, Kumaraswamy R, Khole V.

Indian J Med Res. 2016 May;143(5):616-23. doi: 10.4103/0971-5916.187110.

8.

Assessing the Disease-Liability of Mutations in CFTR.

Ferec C, Cutting GR.

Cold Spring Harb Perspect Med. 2012 Dec 1;2(12):a009480. doi: 10.1101/cshperspect.a009480.

9.

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; collaborating working group on p.Arg117His.

J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1.

PMID:
23378603
10.

PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.

Cho SM, Shin S, Lee KA.

Ann Lab Med. 2016 Nov;36(6):555-60. doi: 10.3343/alm.2016.36.6.555.

11.

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bödeker H, Keim V, Ruffert C, Mössner J, Kage A, Stumvoll M, Groneberg D, Krüger R, Luck W, Treiber M, Becker M, Witt H.

Gut. 2013 Apr;62(4):582-92. doi: 10.1136/gutjnl-2011-300645. Epub 2012 Mar 17.

PMID:
22427236
12.

The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens.

Gaikwad A, Khan S, Kadam S, Kadam K, Dighe V, Shah R, Kulkarni V, Kumaraswamy R, Gajbhiye R.

Andrologia. 2018 Mar;50(2). doi: 10.1111/and.12858. Epub 2017 Aug 3.

PMID:
28776713
13.

Mutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and idiopathic chronic pancreatitis: A single center study.

Şişman G, Tuğcu M, Ayla K, Sebati Ö, Şentürk H.

Turk J Gastroenterol. 2015 Mar;26(2):176-80. doi: 10.5152/tjg.2015.4287.

14.

[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens].

Du Q, Fang YY, Pan YF, Pan BC, Song YS, Wu B.

Zhonghua Nan Ke Xue. 2012 Nov;18(11):999-1003. Chinese.

PMID:
23214250
15.

Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens.

Lu S, Cui Y, Li X, Zhang H, Liu J, Kong B, Cai F, Chen ZJ.

Fertil Steril. 2014 May;101(5):1255-60. doi: 10.1016/j.fertnstert.2014.01.033. Epub 2014 Feb 19.

PMID:
24559724
16.

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Giuliani R, Antonucci I, Torrente I, Grammatico P, Palka G, Stuppia L.

Asian J Androl. 2010 Nov;12(6):819-26. doi: 10.1038/aja.2010.58. Epub 2010 Jul 26.

17.

CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis.

Yu J, Chen Z, Ni Y, Li Z.

Hum Reprod. 2012 Jan;27(1):25-35. doi: 10.1093/humrep/der377. Epub 2011 Nov 10. Review.

PMID:
22081250
18.

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.

Tzetis M, Kaliakatsos M, Fotoulaki M, Papatheodorou A, Doudounakis S, Tsezou A, Makrythanasis P, Kanavakis E, Nousia-Arvanitakis S.

Clin Genet. 2007 May;71(5):451-7.

PMID:
17489851
19.

Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.

Yang X, Sun Q, Yuan P, Liang H, Wu X, Lai L, Zhang Y.

Fertil Steril. 2015 Nov;104(5):1268-75.e1-2. doi: 10.1016/j.fertnstert.2015.07.1143. Epub 2015 Aug 12.

PMID:
26277102
20.

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.

Li H, Wen Q, Li H, Zhao L, Zhang X, Wang J, Cheng L, Yang J, Chen S, Ma X, Wang B.

J Cyst Fibros. 2012 Jul;11(4):316-23. doi: 10.1016/j.jcf.2012.01.005. Epub 2012 Apr 6.

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