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    Academic Journal

    Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 70, № 1 (2025); 82-87 ; Российский вестник перинатологии и педиатрии; Том 70, № 1 (2025); 82-87 ; 2500-2228 ; 1027-4065

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    Relation: https://www.ped-perinatology.ru/jour/article/view/2144/1571; Srivastava S., Sayer J.A. Nephronophthisis. J Pediatr Genet 2014; 3(2): 103–114. DOI:10.3233/PGE-14086; Hildebrandt F., Attanasio M., Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am SocNephrol 2009; 20(1): 23–35. DOI:10.1681/ASN.2008050456; Luo F., Tao Y.H. Nephronophthisis: A review of genotype-phenotype correlation. Nephrology (Carlton) 2018; 23(10): 904–911. DOI:10.1111/nep.13393; Chen F., Dai L., Zhang J., Li F., Cheng J., Zhao J., Zhang B. A case report of NPHP1 deletion in Chinese twins with nephronophthisis. BMC Med Genet 2020; 21(1): 84. DOI:10.1186/s12881–020–01025-x; Simms R.J., Hynes A.M., Eley L., Sayer J.A. Nephronophthisis: a genetically diverse ciliopathy. Int J Nephrol 2011; 2011: 527137. DOI:10.4061/2011/527137; Srivastava S., Molinari E., Raman S., Sayer J.A. Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. Front Pediatr 2018; 5(5): 287. DOI:10.3389/fped.2017.00287; OMIM — Online Mendelian Inheritance in Man https:// omim.org/entry/256100?search=256100&highlight=256100 Ссылка активна на 16.12.2024; König J., Kranz B., König S., Schlingmann K.P., Tönshoff B., Titieni A., et al. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol 2017; 12(12): 1974–1983. DOI:10.2215/CJN.01280217; Wolf M.T. Nephronophthisis and related syndromes. Curr Opin Pediatr 2015; 27(2): 201–211. DOI:10.1097/MOP.0000000000000194; Petzold F., Billot K., Chen X., Henry C., Filhol E., Martin Y., et al. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. Kidney Int 2023; 104(2): 378–387. DOI:10.1016/j.kint.2023.05.007; Hildebrandt F., Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 2007; 18(6): 1855–1871. DOI:10.1681/ASN.2006121344; Halbritter J., Porath J.D., Diaz K.A., Braun D.A., Kohl S., Chaki M., et al. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet 2013; 132(8): 865–884. DOI:10.1007/s00439–013–1297–0; Braun D.A., Schueler M., Halbritter J., Gee H.Y., Porath J.D., Lawson J.A., et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 2016; 89(2): 468–475. DOI:10.1038/ki.2015.317; Blowey D.L., Querfeld U., Geary D., Warady B.A., Alon U. Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol 1996; 10(1): 22–24. DOI:10.1007/BF00863431; Konrad M., Saunier S., Heidet L., Silbermann F., Benessy F., Calado J., et al. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 1996; 5(3): 367–371. DOI:10.1093/hmg/5.3.367; Андреева Э.Ф., Савенкова Н.Д. Нефронофтиз у детей. Наследственные болезни почек у детей. Под ред. Н.Д. Савенковой. СПб.; Левша, Санкт-Петербург, 2020; 299–309.; Сафонова М.П., Зайкова Н.М., Серебрякова О.А., Потрохова Е.А., Балева Л.С. Клинический и генетический полиморфизм орофациодигитального синдрома I типа. Российский вестник перинатологии и педиатрии 2024; 6(69): 79–84.; Ala-Mello S., Kivivuori S.M., Rönnholm K.A., Koskimies O., Siimes M.A. Mechanism underlying early anaemia in children with familial juvenile nephronophthisis. Pediatr Nephrol 1996; 10(5): 578–581. DOI:10.1007/s004670050164; Hildebrandt F., Strahm B., Nothwang H.G., Gretz N., Schnieders B., Singh-Sawhney I., et al. Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie. Kidney Int 1997; 51(1): 261–269. DOI:10.1038/ki.1997.31; Christ-Crain M., Gaisl O. Diabetes insipidus. Presse Med 2021; 50(4): 104093. DOI:10.1016/j.lpm.2021.104093; Duicu C., Pitea A.M., Săsăran O.M., Cozea I., Man L., Bănescu C. Nephrogenic diabetes insipidus in children (Review). Exp Ther Med 2021; 22(1): 746. DOI:10.3892/etm.2021.10178; Nigro N., Grossmann M., Chiang C., Inder W.J. Polyuria-polydipsia syndrome: a diagnostic challenge. Intern Med J 2018; 48(3): 244–253. DOI:10.1111/imj.13627; Primary Polydipsia Ko A.R., Kim S.J., Jung M.K., Kim K.E., Chae H.W., Kim D.H., et al. Hypotonic hyponatremia by primary polydipsia caused brain death in a 10-year-old boy. Ann Pediatr Endocrinol Metab 2015; 20(3): 166–169. DOI:10.6065/apem.2015.20.3.166

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    Academic Journal

    Source: Vestnik dermatologii i venerologii; Vol 100, No 2 (2024); 66-71 ; Вестник дерматологии и венерологии; Vol 100, No 2 (2024); 66-71 ; 2313-6294 ; 0042-4609 ; 10.25208/vdv.1002

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    Academic Journal
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