Results 121 to 130 of about 2,043 (190)

A novel phex gene variant causes non-syndromic tooth agenesis. [PDF]

BMC Oral Health
Pan Y, Hua B, Wang H, Tan S, Lu T, Xiong F, Ma D.   +6 more
europepmc   +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

Approach to determining etiology of hypophosphatemia in a patient with coexisting phosphaturic mesenchymal tumor and fibrous dysplasia. [PDF]

JBMR Plus
Patil MD, Wangsiricharoen S, Lazar AJ, Moon B, Madewell JE, Collins MT, Guise TA.   +6 more
europepmc   +1 more source

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome. [PDF]

BMC Mol Cell Biol
Chen M, Sun D, Yee SP, Yuan Z, Lin L, Cui B, Wang Y, Liu C, Liu P.   +8 more
europepmc   +1 more source

Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease. [PDF]

Genes (Basel)
Spasiano A, Treccani M, De Tomi E, Malerba G, Gambaro G, Ferraro PM.   +5 more
europepmc   +1 more source

Prevalence of Comorbid Hyperparathyroidism and Its Association with Renal Dysfunction in Asian Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia. [PDF]

Calcif Tissue Int
Ito N, Kang HG, Michigami T, Namba N, Kubota T, Shintani A, Kawai R, Kabata D, Ishii H, Nishida Y, Fukumoto S, Ozono K.   +11 more
europepmc   +1 more source

Diagnostic approach to rickets: an Endocrine Society of Bengal (ESB) consensus statement. [PDF]

Ann Pediatr Endocrinol Metab
Roy A, Chowdhury AS, Ray A, Baidya A, Roychowdhury B, Sarkar D, Sanyal D, Maisnam I, Biswas K, Pandit K, Banerjee M, Raychaudhuri M, Sengupta N, Chakraborty PP, Mukhopadhyay P, Raychaudhuri P, Sahana PK, Palui R, Bhattacharjee R, Mukhopadhyay S, Mukhopadhyay S, Ray S, Goswami S, Chowdhury S, Pramanik S, Swar SC, Ghosh S, Mondal S, Das TC.   +28 more
europepmc   +1 more source

Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia. [PDF]

Pediatr Nephrol
Alsubaie H, Alluhaybi B, Zaidan F, Rahbeeni Z, Alsabban E, Alshareef T, Almaiman W, Alhuthil R, Saadeh S.   +8 more
europepmc   +1 more source

Familial hypophosphatemia and Vitamin D-resistant rickets [PDF]

, 1965
Birusingh, Krishna Aloysius
core   +1 more source

Multi-segment osteotomy with interlocking intramedullary nail fixation in the treatment of lower limb deformity in older children with hypophosphatemic rickets. [PDF]

Front Pediatr
Lu M, You H, Wang Y.
europepmc   +1 more source