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 *

175 related articles for article (PubMed ID: 25050900)

  • 21. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
    Al-Haggar M; Bakr A; Tajima T; Fujieda K; Hammad A; Soliman O; Darwish A; Al-Said A; Yahia S; Abdel-Hady D
    Clin Exp Nephrol; 2009 Aug; 13(4):288-294. PubMed ID: 19165416
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Heterozygous mutation of
    Ma Y; Lv H; Wang J; Tan J
    J Int Med Res; 2020 Mar; 48(3):300060519896146. PubMed ID: 32216560
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
    Janiec A; Halat-Wolska P; Obrycki Ł; Ciara E; Wójcik M; Płudowski P; Wierzbicka A; Kowalska E; Książyk JB; Kułaga Z; Pronicka E; Litwin M
    Nephrol Dial Transplant; 2021 Jul; 36(8):1484-1492. PubMed ID: 33099630
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A missense mutation in the sodium phosphate co-transporter Slc34a1 impairs phosphate homeostasis.
    Iwaki T; Sandoval-Cooper MJ; Tenenhouse HS; Castellino FJ
    J Am Soc Nephrol; 2008 Sep; 19(9):1753-62. PubMed ID: 18550648
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.
    Yu Y; Sanderson SR; Reyes M; Sharma A; Dunbar N; Srivastava T; Jüppner H; Bergwitz C
    Bone; 2012 May; 50(5):1100-6. PubMed ID: 22387237
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
    Mannstadt M; Magen D; Segawa H; Stanley T; Sharma A; Sasaki S; Bergwitz C; Mounien L; Boepple P; Thorens B; Zelikovic I; Jüppner H
    J Clin Endocrinol Metab; 2012 Oct; 97(10):E1978-86. PubMed ID: 22865906
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.
    Eltan M; Yavas Abali Z; Turkyilmaz A; Gokce I; Abali S; Alavanda C; Arman A; Kirkgoz T; Guran T; Hatun S; Bereket A; Turan S
    Calcif Tissue Int; 2022 Apr; 110(4):441-450. PubMed ID: 34761296
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
    Kremke B; Bergwitz C; Ahrens W; Schütt S; Schumacher M; Wagner V; Holterhus PM; Jüppner H; Hiort O
    Exp Clin Endocrinol Diabetes; 2009 Feb; 117(2):49-56. PubMed ID: 18523928
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report.
    Lu J; Zhao X; Paiardini A; Lang Y; Bottillo I; Shao L
    BMC Nephrol; 2018 Jul; 19(1):181. PubMed ID: 30005619
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
    Daga A; Majmundar AJ; Braun DA; Gee HY; Lawson JA; Shril S; Jobst-Schwan T; Vivante A; Schapiro D; Tan W; Warejko JK; Widmeier E; Nelson CP; Fathy HM; Gucev Z; Soliman NA; Hashmi S; Halbritter J; Halty M; Kari JA; El-Desoky S; Ferguson MA; Somers MJG; Traum AZ; Stein DR; Daouk GH; Rodig NM; Katz A; Hanna C; Schwaderer AL; Sayer JA; Wassner AJ; Mane S; Lifton RP; Milosevic D; Tasic V; Baum MA; Hildebrandt F
    Kidney Int; 2018 Jan; 93(1):204-213. PubMed ID: 28893421
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
    Ferraro PM; Minucci A; Primiano A; De Paolis E; Gervasoni J; Persichilli S; Naticchia A; Capoluongo E; Gambaro G
    Urolithiasis; 2017 Jun; 45(3):291-294. PubMed ID: 27639704
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.
    Dinour D; Beckerman P; Ganon L; Tordjman K; Eisenstein Z; Holtzman EJ
    J Urol; 2013 Aug; 190(2):552-7. PubMed ID: 23470222
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
    Jobst-Schwan T; Pannes A; Schlingmann KP; Eckardt KU; Beck BB; Wiesener MS
    Kidney Blood Press Res; 2015; 40(5):443-51. PubMed ID: 26304832
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
    Deeb A; Abood SA; Simon J; Dastoor H; Pearce SH; Sayer JA
    BMC Res Notes; 2013 Dec; 6():527. PubMed ID: 24321194
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Analysis of vitamin D
    Kowalska E; Rola R; Wójcik M; Łaszcz N; Płudowski P; Wierzbicka A; Janiec A; Książyk J; Halat P; Ciara E; Obrycki Ł; Pronicka E; Litwin M
    J Steroid Biochem Mol Biol; 2021 Apr; 208():105824. PubMed ID: 33516786
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Idiopathic infantile hypercalcemia in children with chronic kidney disease due to kidney hypodysplasia.
    Gurevich E; Borovitz Y; Levi S; Perlman S; Landau D
    Pediatr Nephrol; 2023 Apr; 38(4):1067-1073. PubMed ID: 36156733
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.
    Wang L; Kulaixi G; Zaiyinati J; Aibai G; Du D; Guo Y
    BMC Pediatr; 2024 Feb; 24(1):121. PubMed ID: 38355430
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report.
    Bertholet-Thomas A; Tram N; Dubourg L; Lemoine S; Molin A; Bacchetta J
    Am J Kidney Dis; 2019 Jun; 73(6):886-889. PubMed ID: 30765103
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutations in PIK3R1 cause SHORT syndrome.
    Dyment DA; Smith AC; Alcantara D; Schwartzentruber JA; Basel-Vanagaite L; Curry CJ; Temple IK; Reardon W; Mansour S; Haq MR; Gilbert R; Lehmann OJ; Vanstone MR; Beaulieu CL; ; Majewski J; Bulman DE; O'Driscoll M; Boycott KM; Innes AM
    Am J Hum Genet; 2013 Jul; 93(1):158-66. PubMed ID: 23810382
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the
    Giusti F; Marini F; Al-Alwani H; Marasco E; Garagnani P; Khan AA; Brandi ML
    Int J Mol Sci; 2023 Dec; 24(24):. PubMed ID: 38139117
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.