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Page 1
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
Acar S, BinEssa HA, Demir K, Al-Rijjal RA, Zou M, Çatli G, Anık A, Al-Enezi AF, Özışık S, Al-Faham MSA, Abacı A, Dündar B, Kattan WE, Alsagob M, Kavukçu S, Tamimi HE, Meyer BF, Böber E, Shi Y. Acar S, et al. PLoS One. 2018 Mar 5;13(3):e0193388. doi: 10.1371/journal.pone.0193388. eCollection 2018. PLoS One. 2018. PMID: 29505567 Free PMC article.
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, Bernabeu I, Díaz-Grande JM, Rey-Cordo L, Ariceta G, Rica I, Nieto J, Vilalta R, Martorell L, Vila-Cots J, Aleixandre F, Fontalba A, Soriano-Guillén L, García-Sagredo JM, García-Miñaur S, Rodríguez B, Juaristi S, García-Pardos C, Martínez-Peinado A, Millán JM, Medeira A, Moldovan O, Fernandez A, Loidi L. Morey M, et al. BMC Med Genet. 2011 Sep 8;12:116. doi: 10.1186/1471-2350-12-116. BMC Med Genet. 2011. PMID: 21902834 Free PMC article.
Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion.
Živičnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, Holder M, Billing H, Fischer DC, Rabl W, Schumacher M, Hiort O, Haffner D; Hypophosphatemic Rickets Study Group of the Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Živičnjak M, et al. J Clin Endocrinol Metab. 2011 Dec;96(12):E2097-105. doi: 10.1210/jc.2011-0399. Epub 2011 Oct 12. J Clin Endocrinol Metab. 2011. PMID: 21994957 Clinical Trial.
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL. Rowe PS, et al. Hum Mol Genet. 1997 Apr;6(4):539-49. doi: 10.1093/hmg/6.4.539. Hum Mol Genet. 1997. PMID: 9097956
Mutational analysis of PHEX gene in X-linked hypophosphatemia.
Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV. Dixon PH, et al. J Clin Endocrinol Metab. 1998 Oct;83(10):3615-23. doi: 10.1210/jcem.83.10.5180. J Clin Endocrinol Metab. 1998. PMID: 9768674