Results 151 to 160 of about 5,354 (221)

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues [PDF]

, 1999
Denis Filisetti, Georg Ostermann, M. von Bredow, Tim M. Strom, Guido Filler, Johen Ehrich, Solange Pannetier, Jean‐Marie Garnier, Peter Rowe, Fiona Francis, A. Julienne, André Hanauer, Michael J. Econs, C Oudet   +13 more
openalex   +1 more source

Hearing impairment in X-linked hypophosphatemia: a review. [PDF]

JBMR Plus
Oh S, Sandy JL, Munns CF, Simm PJ, Siafarikas A, Collins L, Wall CL, Craig ME, Rodda CP, Biggin A.   +9 more
europepmc   +1 more source

Pyrophosphate dysregulation and impaired FGF23/FGFR signaling contributes to impaired matrix mineralization in bone marrow stromal cultures from sickle cell disease mice. [PDF]

Biochem Biophys Res Commun
Xiao L, Hurley MM.
europepmc   +1 more source

[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].

, 2017
Qing Ran, Feng Xiong, Min Zhu, Deng Lei-li, Lei Peiyun, Yanhong Luo, Yan Zeng, Gaohui Zhu, Cui Song   +8 more
openalex   +2 more sources

Hypophosphatemia across the lifespan. [PDF]

JBMR Plus
Herath M, Prince R, Munns CF, Kim A.
europepmc   +1 more source

Reclassification of Hypophosphatemic Bone Disease as X-Linked Hypophosphatemia Following Genetic Testing in Adulthood. [PDF]

AACE Endocrinol Diabetes
Kamel L, Hussain A, Elmewafy A, Ali DS, Khan AA.   +4 more
europepmc   +1 more source

Mutation Survey of the PHEX Gene and Oral Manifestation in a Chinese Family with X-linked Dominant Hypophosphatemic Ricket

, 2016
Yuanyuan Wang, Jie Chen, WU Nan
openalex   +1 more source

Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes. [PDF]

Turk Arch Pediatr
Köprülü Ö, Özer G, Erbaş IM, Nalbantoğlu Ö, Gürsoy S, Özkan B.   +5 more
europepmc   +1 more source

Tissue Nonspecific Alkaline Phosphatase (TNAP) Regulates Cranial Base Growth and Synchondrosis Maturation [PDF]

, 2017
Hwa K. Nam, Jin Liu, Monika Sharma, Nan E. Hatch   +3 more
core   +1 more source

Genetic reduction or deletion of osteopontin in osteomalacic <i>Hyp</i> mice fails to ameliorate dentoalveolar defects. [PDF]

JBMR Plus
Phanrungsuwan A, Donnelly B, Kim J, Sweet J, de Oliveira FA, Kim DG, Liu ES, Millán JL, McKee MD, Foster BL.   +9 more
europepmc   +1 more source