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PUBMED FOR HANDHELDS

Journal Abstract Search

231 related items for PubMed ID: 29959532

  • 21.
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  • 23. Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
    Molin A, Nowoczyn M, Coudray N, Ballandone C, Abéguilé G, Mittre H, Richard N, Eckart P, Castanet M, Kottler ML.
    Eur J Med Genet; 2019 Nov; 62(11):103577. PubMed ID: 30423445
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  • 24. Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
    Figueres ML, Linglart A, Bienaime F, Allain-Launay E, Roussey-Kessler G, Ryckewaert A, Kottler ML, Hourmant M.
    Am J Kidney Dis; 2015 Jan; 65(1):122-6. PubMed ID: 25446019
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  • 25. 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
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  • 26. Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers.
    Ehlayel AM, Copelovitch L.
    Pediatr Nephrol; 2018 Oct; 33(10):1697-1699. PubMed ID: 29460158
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  • 27. 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
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  • 28. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.
    Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R.
    Bone; 2015 Dec; 81():89-96. PubMed ID: 26117226
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  • 29. Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1.
    Bizerea-Moga TO, Chisavu F, Ilies C, Olah O, Marginean O, Gafencu M, Doros G, Stroescu R.
    Children (Basel); 2023 Oct 17; 10(10):. PubMed ID: 37892364
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  • 33. Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.
    Demir K, Yildiz M, Bahat H, Goldman M, Hassan N, Tzur S, Ofir A, Magen D.
    J Clin Endocrinol Metab; 2017 Dec 01; 102(12):4604-4614. PubMed ID: 29029121
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  • 36. Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.
    Gondra L, Décramer S, Chalouhi GE, Muller F, Salomon R, Heidet L.
    Pediatr Nephrol; 2016 Oct 01; 31(10):1705-8. PubMed ID: 27286685
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  • 37. Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?
    Tsatsaris V, Gagnadoux MF, Aubry MC, Gubler MC, Dumez Y, Dommergues M.
    BJOG; 2002 Dec 01; 109(12):1388-93. PubMed ID: 12504976
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  • 39. CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.
    Madsen JOB, Sauer S, Beck B, Johannesen J.
    J Clin Res Pediatr Endocrinol; 2018 Mar 01; 10(1):83-86. PubMed ID: 28874334
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  • 40. [Prenatal diagnosis of hyperechogenic kidneys: A study of 17 cases].
    Emmanuelli V, Lahoche-Manucci A, Holder-Espinasse M, Devisme L, Vaast P, Dieux-Coeslier A, Dehennault M, Petit S, Besson R, Houfflin-Debarge V.
    J Gynecol Obstet Biol Reprod (Paris); 2010 Dec 01; 39(8):637-46. PubMed ID: 20832953
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