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Quoted phrase not found in phrase index: "Nephronophthisis 16"
Page 1
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). König J, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146700 Free PMC article.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www.nephreg.de) to assess the clinical course of patients with nephronophthisis and related ciliopathies on a yearly base. ...RESULTS: In total, 51% of the children presented …
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www.nephreg.de) to assess the clinical course …
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Birtel J, Spital G, Book M, Habbig S, Bäumner S, Riehmer V, Beck BB, Rosenkranz D, Bolz HJ, Dahmer-Heath M, Herrmann P, König J, Charbel Issa P. Birtel J, et al. Kidney Int. 2021 Nov;100(5):1092-1100. doi: 10.1016/j.kint.2021.06.012. Epub 2021 Jun 19. Kidney Int. 2021. PMID: 34153329
Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. ...Thus, diagnostic awareness about this distinct retinal phenotype has implications for the diff …
Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cau …
Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
Chen W, Wang F, Zeng W, Zhang X, Shen L, Zhang Y, Zhou X. Chen W, et al. Hum Genomics. 2022 Oct 22;16(1):48. doi: 10.1186/s40246-022-00421-z. Hum Genomics. 2022. PMID: 36273201 Free PMC article.
RESULTS: Here, we describe five unrelated family trios with multisystem ciliopathy syndromes, including situs abnormality, complex congenital heart disease, nephronophthisis or neonatal cholestasis. Through whole-exome sequencing and Sanger sequencing confirmation, we iden …
RESULTS: Here, we describe five unrelated family trios with multisystem ciliopathy syndromes, including situs abnormality, complex congenita …
Hepatorenal fibrocystic diseases in children.
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI. Park E, et al. Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11. Pediatr Nephrol. 2016. PMID: 26260382
RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11/36 (30.6 %) and Meckel-Gruber syndrome type 3 (MKS3) in 4/36 (11.1 %). ...
RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13 …
Pediatric liver transplantation for fibropolycystic liver disease.
Ko JS, Yi NJ, Suh KS, Seo JK. Ko JS, et al. Pediatr Transplant. 2012 Mar;16(2):195-200. doi: 10.1111/j.1399-3046.2012.01661.x. Pediatr Transplant. 2012. PMID: 22360404
Associated renal manifestations included ARPKD in three children and nephronophthisis in one child. The indications for LT were recurrent cholangitis, decompensated cirrhosis, and refractory complications of portal hypertension. ...
Associated renal manifestations included ARPKD in three children and nephronophthisis in one child. The indications for LT were recur …
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.
Tong H, Yue Z, Sun L, Chen H, Wang W, Wang H. Tong H, et al. Nephrology (Carlton). 2013 Dec;18(12):838-42. doi: 10.1111/nep.12156. Nephrology (Carlton). 2013. PMID: 24674142
Senior-Loken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Loken syndrome. ...Both affected sisters exhibited Leber's congenital amaurosis and ju …
Senior-Loken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes …
Congenital hepatic fibrosis and its mimics: a clinicopathologic study of 19 cases at a single institution.
Chen IY, Whitney-Miller CL, Liao X. Chen IY, et al. Diagn Pathol. 2021 Aug 30;16(1):81. doi: 10.1186/s13000-021-01142-y. Diagn Pathol. 2021. PMID: 34461951 Free PMC article.
Five of 6 mimics (83.3%) had various kidney diseases, including nephronophthisis, Alport syndrome, renal agenesis, and nephrolithiasis. ...
Five of 6 mimics (83.3%) had various kidney diseases, including nephronophthisis, Alport syndrome, renal agenesis, and nephrolithiasi …
End-stage renal disease in Kuwaiti children: an 8-year experience.
Al-Eisa AA, Samhan M, Naseef M. Al-Eisa AA, et al. Transplant Proc. 2004 Jul-Aug;36(6):1788-91. doi: 10.1016/j.transproceed.2004.07.024. Transplant Proc. 2004. PMID: 15350478
Hereditary nephropathy was diagnosed in 35.4%, including primary hyperoxaluria in 10.4%, nephronophthisis in 2%, autosomal-recessive polycystic renal disease in 8%, and glomerulopathies in 14.5%. ...
Hereditary nephropathy was diagnosed in 35.4%, including primary hyperoxaluria in 10.4%, nephronophthisis in 2%, autosomal-recessive …
A family with Jeune syndrome.
Ozçay F, Derbent M, Demirhan B, Tokel K, Saatçi U. Ozçay F, et al. Pediatr Nephrol. 2001 Aug;16(8):623-6. doi: 10.1007/s004670100627. Pediatr Nephrol. 2001. PMID: 11519890
Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. ...The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophth …
Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. …
Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor.
Udagawa T, Kamei K, Ogura M, Tsutsumi A, Noda S, Kasahara M, Fukuda A, Sakamoto S, Shigeta S, Tanaka H, Kuroda T, Matsuoka K, Nakazawa A, Nagai T, Uemura O, Ito S. Udagawa T, et al. Pediatr Transplant. 2012 Nov;16(7):E275-80. doi: 10.1111/j.1399-3046.2011.01611.x. Epub 2011 Nov 30. Pediatr Transplant. 2012. PMID: 22129440
CDC crossmatch for donor B cells in the warm test, FCXM for B cell IgG, and flow PRA for donor class II were positive before LDKT. After pretreatment of three courses of plasma exchange and intravenous gamma globulin, LDKT was performed. ...
CDC crossmatch for donor B cells in the warm test, FCXM for B cell IgG, and flow PRA for donor class II were positive before LDKT. After pre …
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