290 related articles for article (PubMed ID: 19219621)
41. Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing.
Yuan L; Wu S; Xu H; Xiao J; Yang Z; Xia H; Liu A; Hu P; Lu A; Chen Y; Xu F; Deng H
Biol Chem; 2015 Jan; 396(1):27-33. PubMed ID: 25060345
[TBL] [Abstract][Full Text] [Related]
42. The contribution of a novel
Chen X; Cai C; Lun S; Ye Q; Pan W; Chen Y; Wu Y; Feng T; Su F; Ma C; Luo J; Liu M; Ma G
Front Endocrinol (Lausanne); 2023; 14():1251718. PubMed ID: 38116308
[TBL] [Abstract][Full Text] [Related]
43. 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]
44. Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3'-UTR change as a possible cause.
Sawatsubashi S; Takashi Y; Endo I; Kondo T; Abe M; Matsumoto T; Fukumoto S
Bone; 2024 May; 182():117057. PubMed ID: 38412893
[TBL] [Abstract][Full Text] [Related]
45. Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS; Kuo MT; Wang CJ; Chang CH; Lee ZL; Van YH
Nephron Physiol; 2006; 103(4):p157-63. PubMed ID: 16636593
[TBL] [Abstract][Full Text] [Related]
46. Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia.
Zhang C; Zhao Z; Sun Y; Xu L; JiaJue R; Cui L; Pang Q; Jiang Y; Li M; Wang O; He X; He S; Nie M; Xing X; Meng X; Zhou X; Yan L; Kaplan JM; Insogna KL; Xia W
Bone; 2019 Apr; 121():212-220. PubMed ID: 30682568
[TBL] [Abstract][Full Text] [Related]
47. [Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets].
Zhang S; Zhang Q; Cheng L; Huang X; Peng Y; Liang Z; Guo H; Pan Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct; 35(5):644-647. PubMed ID: 30298486
[TBL] [Abstract][Full Text] [Related]
48. X-linked hypophosphatemic rickets caused by a de novo PHEX gene variation in a family.
Zhang Y; Zhang X; Fang T; Quan H; Chen K; Sheng Z
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Jun; 46(6):658-665. PubMed ID: 34275936
[TBL] [Abstract][Full Text] [Related]
49. Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
Zheng B; Wang C; Chen Q; Che R; Sha Y; Zhao F; Ding G; Zhou W; Jia Z; Huang S; Chen Y; Zhang A
J Bone Miner Res; 2020 Sep; 35(9):1718-1725. PubMed ID: 32329911
[TBL] [Abstract][Full Text] [Related]
50. Hypophosphatemic rickets: etiology, clinical features and treatment.
Pavone V; Testa G; Gioitta Iachino S; Evola FR; Avondo S; Sessa G
Eur J Orthop Surg Traumatol; 2015 Feb; 25(2):221-6. PubMed ID: 24957364
[TBL] [Abstract][Full Text] [Related]
51. Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.
Goji K; Ozaki K; Sadewa AH; Nishio H; Matsuo M
J Clin Endocrinol Metab; 2006 Feb; 91(2):365-70. PubMed ID: 16303832
[TBL] [Abstract][Full Text] [Related]
52. 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
PLoS One; 2018; 13(3):e0193388. PubMed ID: 29505567
[TBL] [Abstract][Full Text] [Related]
53. [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]
54. Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
Thiele S; Werner R; Stubbe A; Hiort O; Hoeppner W
Eur J Endocrinol; 2020 Nov; 183(5):497-504. PubMed ID: 33107440
[TBL] [Abstract][Full Text] [Related]
55. Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.
Makras P; Hamdy NA; Kant SG; Papapoulos SE
J Clin Endocrinol Metab; 2008 Apr; 93(4):1386-9. PubMed ID: 18252791
[TBL] [Abstract][Full Text] [Related]
56. [X-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability].
Martos Moreno GÁ; Aparicio C; de Lucas C; Gil Peña H; Argente J
An Pediatr (Barc); 2016 Jul; 85(1):41-3. PubMed ID: 27221261
[No Abstract] [Full Text] [Related]
57. X-linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro.
Sant' Ana I; Torrini R; Alves Coelho MC; Cantoni J; Madeira M; Ribeiro M
Mol Genet Genomic Med; 2022 Jun; 10(6):e1941. PubMed ID: 35384411
[TBL] [Abstract][Full Text] [Related]
58. 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]
59. Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.
Chou YY; Chao SC; Tsai SC; Lin SJ
J Formos Med Assoc; 2005 Mar; 104(3):198-202. PubMed ID: 15818436
[TBL] [Abstract][Full Text] [Related]
60. A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.
Econs MJ; Friedman NE; Rowe PS; Speer MC; Francis F; Strom TM; Oudet C; Smith JA; Ninomiya JT; Lee BE; Bergen H
J Clin Endocrinol Metab; 1998 Oct; 83(10):3459-62. PubMed ID: 9768646
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]