Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Opis bibliograficzny
Główni autorzy:	Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T
Format:	Journal article
Język:	English
Wydane:	2012

Podobne zapisy

Windswept lower limb deformities in patients with hypophosphataemic rickets
od: Ali Al Kaissi, i wsp.
Wydane: (2013-12-01)

Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
od: Dixon, P, i wsp.
Wydane: (1996)

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
od: Read, A, i wsp.
Wydane: (1986)

X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
od: Christie, P, i wsp.
Wydane: (2000)

Bridging markers defining the map position of X linked hypophosphataemic rickets.
od: Thakker, R, i wsp.
Wydane: (1987)

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults
od: Tavana, Nahid, i wsp.
Wydane: (2021)

Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
od: Ender COŞKUNPINAR, i wsp.
Wydane: (2018-04-01)

Genetic linkage studies of X-linked hypophosphataemic rickets in a Saudi Arabian family.
od: Thakker, R, i wsp.
Wydane: (1992)

Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
od: Eda Çelebi Bitkin, i wsp.
Wydane: (2022-06-01)

X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
od: Dixon, P, i wsp.
Wydane: (1997)

Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management
od: Lorna Hirst, i wsp.
Wydane: (2021-01-01)

Incidence of ossification of the spinal ligaments in acromegaly patients
od: Yoshitomo Hoshino, i wsp.
Wydane: (2022-12-01)

Investigation of the biomarkers involved in ectopic ossification: The shared mechanism in ossification of the spinal ligament
od: Jiachen Liu, i wsp.
Wydane: (2022-10-01)

Selective Angiography to Detect Anterior Spinal Artery Stenosis in Thoracic Ossification of the Posterior Longitudinal Ligament
od: Go Yoshida, i wsp.
Wydane: (2022-06-01)

The effect of 1,25-dihydroxycholecalciferol on renal tubular reabsorption of phosphate, intestinal absorption of calcium and bone histology in hypophosphataemic renal tubular rickets.
od: Russell, R, i wsp.
Wydane: (1975)

Effects of a diphosphonate (disodium etidronate: EHDP) on phosphate metabolism in Paget's disease of bone, primary hyperparathyroidism and type I hypophosphataemic rickets.
od: Walton, R, i wsp.
Wydane: (1976)

Progression of Spinal Ligament Ossification in Patients with Thoracic Myelopathy
od: Jiliang Zhai, i wsp.
Wydane: (2022-09-01)

Risk factors of dysphagia in patients with ossification of the anterior longitudinal ligament
od: Hirosuke Nishimura, i wsp.
Wydane: (2020-10-01)

Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
od: Jie Liu, i wsp.
Wydane: (2023-04-01)

Lumbar ossification of the ligamentum flavum reflects a strong ossification tendency of the entire spinal ligament
od: Kazuha Nakabachi, i wsp.
Wydane: (2023-01-01)

Strong relationship between dyslipidemia and the ectopic ossification of the spinal ligaments
od: Tsutomu Endo, i wsp.
Wydane: (2022-12-01)

Autophagy in spinal ligament fibroblasts: evidence and possible implications for ossification of the posterior longitudinal ligament
od: Yuehua Yang, i wsp.
Wydane: (2020-10-01)

To Study the Incidence of Heterotopic Ossification After Anterior Cruciate Ligament Reconstruction
od: BHASKARA BHANDARY, i wsp.
Wydane: (2013-05-01)

Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review
od: Ana Rita Couto, i wsp.
Wydane: (2022-10-01)

Biomarker Research Approach to the Pathogenesis of Ossification of the Spinal Ligament: A Review
od: Yoshiharu Kawaguchi
Wydane: (2022-05-01)

Introduction to the Essence of Clinical Practice Guidelines for Ossification of Spinal Ligaments, 2019
od: Yoshiharu Kawaguchi
Wydane: (2021-09-01)

De Novo Large Deletions in the <i>PHEX</i> Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
od: Carmine Pecoraro, i wsp.
Wydane: (2023-07-01)

Ossification of the Anterior Longitudinal Ligament with Dysphagia as the First Symptom: Rehabilitation of Two Cases
od: Norihiro Nishida, i wsp.
Wydane: (2021-08-01)

Combined Anterior and Posterior Decompression With Fusion for Cervical Ossification of the Posterior Longitudinal Ligament
od: Chao-Hung Kuo, i wsp.
Wydane: (2022-01-01)

Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review
od: Ana Rita Couto, i wsp.
Wydane: (2024-08-01)

Direct anterior decompression in patients with ossification of the posterior longitudinal ligament significantly relieves short-segment spinal cord high signal
od: Zichuan Wu, i wsp.
Wydane: (2024-10-01)

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
od: Yunsoo Choe, i wsp.
Wydane: (2022-07-01)

Complete ossification of stylohyoid ligament
od: Arun Kumar S.Bilodi, i wsp.
Wydane: (2013-04-01)

An Age-old Debate: Anterior Versus Posterior Surgery for Ossification of the Posterior Longitudinal Ligament
od: Ali Moghaddamjou, i wsp.
Wydane: (2019-09-01)

The Essence of Clinical Practice Guidelines for Ossification of Spinal Ligaments, 2019: 6. Diagnosis of OLF
od: Masao Koda
Wydane: (2021-09-01)

Anterior direct decompression significantly relieves spinal cord high signal in patients with ossification of the posterior longitudinal ligament: a case-control study
od: Zichuan Wu, i wsp.
Wydane: (2023-11-01)

Dysphagia Turns Out to Be Ossification of the Anterior Longitudinal Ligament of The Cervical Spine: A Case Report
od: P. G. N. Danushka, i wsp.
Wydane: (2025-01-01)

Outcome of anterior key-hole corpectomy for cervical spondylotic myelopathy with ossification of posterior longitudinal ligament
od: Yunus Aydin, i wsp.
Wydane: (2023-01-01)

Surgical results and prognostic factors of anterior cervical corpectomy and fusion for ossification of the posterior longitudinal ligament.
od: Yu Chen, i wsp.
Wydane: (2014-01-01)

Predicting the impact of PHEX, FGF23 and DMP1 gene variants found in Malaysian Malay patients with Hypophosphataemic Rickets through in silico analysis of protein function and mRNA secondary structure
od: Razali, Nurul Nadirah, i wsp.
Wydane: (2019)