181 related articles for article (PubMed ID: 34839522)
1. [Analysis of PHEX gene variant and prenatal diagnosis for a Chinese pedigree affected with X-linked hypophosphatemia].
Cao P; Zhu X; Li J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1136-1139. PubMed ID: 34839522
[TBL] [Abstract][Full Text] [Related]
2. [Analysis of PHEX gene variant and prenatal diagnosis for a Chinese pedigree affected with X-linked hypophosphatemia].
Cao P; Zhu X; Li J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1136-1139. PubMed ID: 34729760
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.
Qiu G; Liu C; Zhou J; Liu P; Wang J; Jiang H; Hou Z; Zhao Y; Sun K; Li-Ling J
Genet Test Mol Biomarkers; 2010 Jun; 14(3):385-91. PubMed ID: 20578943
[TBL] [Abstract][Full Text] [Related]
4. A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.
Alhamoudi KM; Alghamdi B; Alswailem M; Nasir A; Aljomaiah A; Al-Hindi H; Alzahrani AS
J Clin Endocrinol Metab; 2022 Sep; 107(10):2883-2891. PubMed ID: 35896147
[TBL] [Abstract][Full Text] [Related]
5. Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.
Lin Y; Zhang W; Huang X; Su L; Cai Y; Liang C; Rao M; Liu L; Zeng C
Calcif Tissue Int; 2022 Feb; 110(2):266-271. PubMed ID: 34487203
[TBL] [Abstract][Full Text] [Related]
6. A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia.
Ma X; Pang Q; Zhang Q; Jiang Y; Wang O; Li M; Xing X; Xia W
Calcif Tissue Int; 2022 Dec; 111(6):634-640. PubMed ID: 35831717
[TBL] [Abstract][Full Text] [Related]
7. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
[TBL] [Abstract][Full Text] [Related]
8. [Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets].
Luan Z; Li H; Hu L; Chen C; Xu X; Xiang Y; Tang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):633-636. PubMed ID: 28981921
[TBL] [Abstract][Full Text] [Related]
9. A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.
Li B; Wang X; Hao X; Liu Y; Wang Y; Shan C; Ao X; Liu Y; Bao H; Li P
Mol Genet Genomic Med; 2020 Aug; 8(8):e1262. PubMed ID: 32511895
[TBL] [Abstract][Full Text] [Related]
10. PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.
Yang L; Yang J; Huang X
J Pediatr Endocrinol Metab; 2013; 26(11-12):1179-83. PubMed ID: 23813354
[TBL] [Abstract][Full Text] [Related]
11. [Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].
Li J; Xu P; Huang S; Gao M; Zou Y; Kang R; Gao Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):216-219. PubMed ID: 28397222
[TBL] [Abstract][Full Text] [Related]
12. Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.
Lin X; Zhu Y; Luo J; Huang J
J Pediatr Endocrinol Metab; 2018 Jul; 31(7):789-797. PubMed ID: 29858904
[TBL] [Abstract][Full Text] [Related]
13. Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families.
Liao H; Zhu HM; Liu HQ; Li LP; Liu SL; Wang H
Int J Mol Med; 2018 Apr; 41(4):2012-2020. PubMed ID: 29393334
[TBL] [Abstract][Full Text] [Related]
14. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.
Kang QL; Xu J; Zhang Z; He JW; Lu LS; Fu WZ; Zhang ZL
Biochem Biophys Res Commun; 2012 Jul; 423(4):793-8. PubMed ID: 22713460
[TBL] [Abstract][Full Text] [Related]
15. Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia.
Lin Y; Xu J; Li X; Sheng H; Su L; Wu M; Cheng J; Huang Y; Mao X; Zhou Z; Zhang W; Li C; Cai Y; Wu D; Lu Z; Yin X; Zeng C; Liu L
J Endocrinol Invest; 2020 Nov; 43(11):1577-1590. PubMed ID: 32253725
[TBL] [Abstract][Full Text] [Related]
16. A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the
Fraga G; Herreros MA; Pybus M; Aza-Carmona M; Pilco-Teran M; Furlano M; García-Borau MJ; Torra R; Ars E
Genes (Basel); 2024 May; 15(6):. PubMed ID: 38927615
[TBL] [Abstract][Full Text] [Related]
17. Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
Yue H; Yu JB; He JW; Zhang Z; Fu WZ; Zhang H; Wang C; Hu WW; Gu JM; Hu YQ; Li M; Liu YJ; Zhang ZL
PLoS One; 2014; 9(5):e97830. PubMed ID: 24836714
[TBL] [Abstract][Full Text] [Related]
18. Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
Li SS; Gu JM; Yu WJ; He JW; Fu WZ; Zhang ZL
Int J Mol Med; 2016 Dec; 38(6):1703-1714. PubMed ID: 27840894
[TBL] [Abstract][Full Text] [Related]
19. Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
Huang Y; Mei L; Pan Q; Tan H; Quan Y; Gui B; Chang J; Ma R; Peng Y; Yang P; Liang D; Wu L
Gene; 2015 Jul; 565(1):150-4. PubMed ID: 25839938
[TBL] [Abstract][Full Text] [Related]
20. Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
Xia W; Meng X; Jiang Y; Li M; Xing X; Pang L; Wang O; Pei Y; Yu LY; Sun Y; Hu Y; Zhou X
Calcif Tissue Int; 2007 Dec; 81(6):415-20. PubMed ID: 18046499
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
