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207 related items for PubMed ID: 28751295

  • 1. Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease.
    Tinsa F, Hadj Fredj S, Bel Hadj I, Khalsi F, Abdelhak S, Boussetta K, Messaoud T.
    Ann Biol Clin (Paris); 2017 Aug 01; 75(4):466-473. PubMed ID: 28751295
    [Abstract] [Full Text] [Related]

  • 2. Lung disease associated with the IVS8 5T allele of the CFTR gene.
    Noone PG, Pue CA, Zhou Z, Friedman KJ, Wakeling EL, Ganeshananthan M, Simon RH, Silverman LM, Knowles MR.
    Am J Respir Crit Care Med; 2000 Nov 01; 162(5):1919-24. PubMed ID: 11069835
    [Abstract] [Full Text] [Related]

  • 3. Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!
    Mantoo MR, Kabra M, Kabra SK.
    Indian J Pediatr; 2020 Sep 01; 87(9):726-732. PubMed ID: 32504456
    [Abstract] [Full Text] [Related]

  • 4. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.
    Massie RJ, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C.
    Eur Respir J; 2001 Jun 01; 17(6):1195-200. PubMed ID: 11491164
    [Abstract] [Full Text] [Related]

  • 5. Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.
    Radpour R, Gilani MA, Gourabi H, Dizaj AV, Mollamohamadi S.
    Mol Hum Reprod; 2006 Jul 01; 12(7):469-73. PubMed ID: 16714368
    [Abstract] [Full Text] [Related]

  • 6. Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.
    Qiu L, Yang F, He Y, Yuan H, Zhou J.
    Front Med; 2018 Oct 01; 12(5):550-558. PubMed ID: 29520692
    [Abstract] [Full Text] [Related]

  • 7. Pseudo-Bartter syndrome in Chinese children with cystic fibrosis: Clinical features and genotypic findings.
    Shen Y, Tang X, Liu J, Li H, Zhao S.
    Pediatr Pulmonol; 2020 Nov 01; 55(11):3021-3029. PubMed ID: 32761997
    [Abstract] [Full Text] [Related]

  • 8. Episodic seasonal Pseudo-Bartter syndrome in cystic fibrosis.
    Kintu B, Brightwell A.
    Paediatr Respir Rev; 2014 Jun 01; 15 Suppl 1():19-21. PubMed ID: 24821548
    [Abstract] [Full Text] [Related]

  • 9. [Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].
    Zhang JY, Sun LJ, Duan XJ, Zhang ZM, Xiao ZH, Chen YP, You JY.
    Zhongguo Dang Dai Er Ke Za Zhi; 2024 May 15; 26(5):506-511. PubMed ID: 38802912
    [Abstract] [Full Text] [Related]

  • 10. Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?
    Poli P, De Rose DU, Timpano S, Savoldi G, Padoan R.
    Pediatr Pulmonol; 2019 Oct 15; 54(10):1578-1583. PubMed ID: 31328366
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 6(3):220-2. PubMed ID: 17127107
    [Abstract] [Full Text] [Related]

  • 12. Pseudo-Bartter's syndrome revealing cystic fibrosis in an infant caused by 3849 + 1G>A and 4382delA compound heterozygosity.
    Nahida el-R, Mohammed H, Guy L.
    Acta Paediatr; 2011 Nov 15; 100(11):e234-5. PubMed ID: 21449922
    [Abstract] [Full Text] [Related]

  • 13. Nasal potential difference in suspected cystic fibrosis patients with 5T polymorphism.
    Aalbers BL, Yaakov Y, Derichs N, Simmonds NJ, De Wachter E, Melotti P, De Boeck K, Leal T, Tümmler B, Wilschanski M, Bronsveld I.
    J Cyst Fibros; 2020 Jul 15; 19(4):627-631. PubMed ID: 31331863
    [Abstract] [Full Text] [Related]

  • 14. [Two Cases of Pseudo-Bartter Syndrome in Childhood: When to Suspect a Rare Onset Pattern of Cystic Fibrosis].
    Vergine G, Fressola G, Ambroni M, Gessaroli M, Bigucci B, Mazzocco M, Conte ML.
    G Ital Nefrol; 2024 Jun 28; 41(3):. PubMed ID: 38943326
    [Abstract] [Full Text] [Related]

  • 15. Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
    Ahn KM, Park HY, Lee JH, Lee MG, Kim JH, Kang IJ, Lee SI.
    J Korean Med Sci; 2005 Feb 28; 20(1):153-7. PubMed ID: 15716623
    [Abstract] [Full Text] [Related]

  • 16. Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.
    Sismanlar Eyuboglu T, Dogru D, Çakır E, Cobanoglu N, Pekcan S, Cinel G, Yalçın E, Kiper N, Sen V, Selimoglu Sen H, Ercan O, Keskin O, Bilgic Eltan S, Alshadfan L, Yazan H, Altıntas DU, Sasihuseyinoglu AS, Sapan N, Cekic S, Cokugraş H, Kılınc AA, Ramaslı Gursoy T, Aslan AT, Bingol A, Başaran AE, Ozdemir A, Kose M, Hangul M, Emiralioglu N, Tugcu G, Yuksel H, Yılmaz O, Orhan F, Gayretli Aydın ZG, Topal E, Tamay Z, Suleyman A, Can D, Bal CM, Caltepe G, Ozcelik U.
    Pediatr Pulmonol; 2020 Aug 28; 55(8):2011-2016. PubMed ID: 32364312
    [Abstract] [Full Text] [Related]

  • 17. Characteristics of electrolyte imbalance and pseudo-bartter syndrome in hospitalized cystic fibrosis children and adolescents.
    Abdul Aziz D, Siddiqui F, Abbasi Q, Iftikhar H, Shahid S, Mir F.
    J Cyst Fibros; 2022 May 28; 21(3):514-518. PubMed ID: 34610890
    [Abstract] [Full Text] [Related]

  • 18. 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 28; 155(6):1914-20. PubMed ID: 9196095
    [Abstract] [Full Text] [Related]

  • 19. Pseudo-Bartter Syndrome and Intermediate Sweat Chloride Levels-It Could Still be Cystic Fibrosis!
    Kumar M, Varkki SD.
    Indian J Pediatr; 2021 Jun 28; 88(6):600. PubMed ID: 33825131
    [No Abstract] [Full Text] [Related]

  • 20. Diverse genotypical features and impacts on clinical course and severity of cystic fibrosis: early childhood experience.
    Halicioglu O, Akman SA, Sutcuoglu S, Coker I.
    Minerva Pediatr; 2011 Jun 28; 63(3):169-75. PubMed ID: 21654597
    [Abstract] [Full Text] [Related]

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