These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 38965466)

  • 1. Case report of a child with nephronophthisis from South Africa.
    Bhimma R; Jembere E; Hariparshad S
    BMC Pediatr; 2024 Jul; 24(1):431. PubMed ID: 38965466
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report.
    Akira M; Suzuki H; Ikeda A; Iwasaki M; Honda D; Takahara H; Rinno H; Tomita S; Suzuki Y
    BMC Nephrol; 2021 Jul; 22(1):261. PubMed ID: 34246230
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy.
    Larsen CP; Bonsib SM; Beggs ML; Wilson JD
    Hum Pathol; 2018 Nov; 81():71-77. PubMed ID: 29949740
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.
    Hudson R; Patel C; Hawley CM; O'Shea S; Snelling P; Ho G; Holman K; Bennetts B; Crawford J; Francis L; Simons C; Mallett A
    Am J Kidney Dis; 2020 Aug; 76(2):282-287. PubMed ID: 31810733
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Nephronophthisis: a pediatric case report].
    Pitón M; Gregorini L; Bullor C; Ejdin A; López Vieyto D; Lis D; Sarmiento E; Piantanida JJ
    Arch Argent Pediatr; 2022 Jun; 120(3):e142-e146. PubMed ID: 35533128
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding.
    Kang HG; Ahn YH; Kim JH; Ha IS; Yu YS; Park YH; Cheong HI
    Clin Exp Ophthalmol; 2015 Jul; 43(5):437-42. PubMed ID: 25401970
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.
    Watanabe Y; Fujinaga S; Sakuraya K; Morisada N; Nozu K; Iijima K
    Tohoku J Exp Med; 2019 Sep; 249(1):29-32. PubMed ID: 31534065
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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;
    Clin J Am Soc Nephrol; 2017 Dec; 12(12):1974-1983. PubMed ID: 29146700
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Identification of a new mutation of the NPHP1 gene].
    La Russa A; Cifarelli RA; Perri A; Saracino A; Santarsia G; Bonofiglio R
    G Ital Nefrol; 2018 May; 35(3):. PubMed ID: 29786190
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?
    Vogel P; Gelfman CM; Issa T; Payne BJ; Hansen GM; Read RW; Jones C; Pitcher MR; Ding ZM; DaCosta CM; Shadoan MK; Vance RB; Powell DR
    Vet Pathol; 2015 May; 52(3):580-95. PubMed ID: 25161209
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Nephronophthisis: a genetically diverse ciliopathy.
    Simms RJ; Hynes AM; Eley L; Sayer JA
    Int J Nephrol; 2011; 2011():527137. PubMed ID: 21660307
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
    Olbrich H; Fliegauf M; Hoefele J; Kispert A; Otto E; Volz A; Wolf MT; Sasmaz G; Trauer U; Reinhardt R; Sudbrak R; Antignac C; Gretz N; Walz G; Schermer B; Benzing T; Hildebrandt F; Omran H
    Nat Genet; 2003 Aug; 34(4):455-9. PubMed ID: 12872122
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Nephronophthisis: a pathological and genetic perspective.
    Wolf MTF; Bonsib SM; Larsen CP; Hildebrandt F
    Pediatr Nephrol; 2024 Jul; 39(7):1977-2000. PubMed ID: 37930417
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Nephronophthisis and related syndromes.
    Wolf MT
    Curr Opin Pediatr; 2015 Apr; 27(2):201-11. PubMed ID: 25635582
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
    Stokman MF; van der Zwaag B; van de Kar NCAJ; van Haelst MM; van Eerde AM; van der Heijden JW; Kroes HY; Ippel E; Schulp AJA; van Gassen KL; van Rooij IALM; Giles RH; Beales PL; Roepman R; Arts HH; Bongers EMHF; Renkema KY; Knoers NVAM; van Reeuwijk J; Lilien MR
    Pediatr Nephrol; 2018 Oct; 33(10):1701-1712. PubMed ID: 29974258
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
    Tang X; Liu C; Liu X; Chen J; Fan X; Liu J; Ma D; Cao G; Chen Z; Xu D; Zhu Y; Jiang X; Cheng L; Wu Y; Hou L; Li Y; Shao X; Zheng S; Zhang A; Zheng B; Jian S; Rong Z; Su Q; Gao X; Rao J; Shen Q; Xu H; ;
    J Med Genet; 2022 Feb; 59(2):147-154. PubMed ID: 33323469
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation.
    Tsukamoto T; Tanaka M; Komiya T; Ueda S; Takasu K; Takahara S; Koizumi A; Muso E
    Clin Exp Nephrol; 2008 Feb; 12(1):82-8. PubMed ID: 18175055
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.
    Ajiboye O; Vengoechea JE; Gupta R; Lomashvili K
    Am J Case Rep; 2023 Nov; 24():e941413. PubMed ID: 37992003
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Living-Related Kidney Transplantation in a Patient with Juvenile Nephronophthisis.
    Vnučák M; Graňák K; Skálová P; Laca Ľ; Mokáň M; Dedinská I
    Nephron; 2020; 144(11):583-588. PubMed ID: 32906116
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of an NPHP1 deletion causing adult form of nephronophthisis.
    Haghighi A; Savaj S; Haghighi-Kakhki H; Benoit V; Grisart B; Dahan K
    Ir J Med Sci; 2016 Aug; 185(3):589-595. PubMed ID: 26037636
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.