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.

Détails bibliographiques
Auteurs principaux:	Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T
Format:	Journal article
Langue:	English
Publié:	2012

Documents similaires

Windswept lower limb deformities in patients with hypophosphataemic rickets
par: Ali Al Kaissi, et autres
Publié: (2013-12-01)

Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
par: Dixon, P, et autres
Publié: (1996)

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
par: Read, A, et autres
Publié: (1986)

X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
par: Christie, P, et autres
Publié: (2000)

Bridging markers defining the map position of X linked hypophosphataemic rickets.
par: Thakker, R, et autres
Publié: (1987)

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults
par: Tavana, Nahid, et autres
Publié: (2021)

Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
par: Ender COŞKUNPINAR, et autres
Publié: (2018-04-01)

Genetic linkage studies of X-linked hypophosphataemic rickets in a Saudi Arabian family.
par: Thakker, R, et autres
Publié: (1992)

X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
par: Dixon, P, et autres
Publié: (1997)

Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
par: Eda Çelebi Bitkin, et autres
Publié: (2022-06-01)

Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management
par: Lorna Hirst, et autres
Publié: (2021-01-01)

Incidence of ossification of the spinal ligaments in acromegaly patients
par: Yoshitomo Hoshino, et autres
Publié: (2022-12-01)

Investigation of the biomarkers involved in ectopic ossification: The shared mechanism in ossification of the spinal ligament
par: Jiachen Liu, et autres
Publié: (2022-10-01)

Selective Angiography to Detect Anterior Spinal Artery Stenosis in Thoracic Ossification of the Posterior Longitudinal Ligament
par: Go Yoshida, et autres
Publié: (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.
par: Russell, R, et autres
Publié: (1975)

Effects of a diphosphonate (disodium etidronate: EHDP) on phosphate metabolism in Paget's disease of bone, primary hyperparathyroidism and type I hypophosphataemic rickets.
par: Walton, R, et autres
Publié: (1976)

Cervical Ossification of Posterior Longitudinal Ligament in X-Linked Hypophosphatemic Rickets Revealing Homogeneously Increased Vertebral Bone Density
par: Masato Shiba, et autres
Publié: (2015-02-01)

Progression of Spinal Ligament Ossification in Patients with Thoracic Myelopathy
par: Jiliang Zhai, et autres
Publié: (2022-09-01)

Risk factors of dysphagia in patients with ossification of the anterior longitudinal ligament
par: Hirosuke Nishimura, et autres
Publié: (2020-10-01)

Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
par: Jie Liu, et autres
Publié: (2023-04-01)

Lumbar ossification of the ligamentum flavum reflects a strong ossification tendency of the entire spinal ligament
par: Kazuha Nakabachi, et autres
Publié: (2023-01-01)

Strong relationship between dyslipidemia and the ectopic ossification of the spinal ligaments
par: Tsutomu Endo, et autres
Publié: (2022-12-01)

Autophagy in spinal ligament fibroblasts: evidence and possible implications for ossification of the posterior longitudinal ligament
par: Yuehua Yang, et autres
Publié: (2020-10-01)

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

To Study the Incidence of Heterotopic Ossification After Anterior Cruciate Ligament Reconstruction
par: BHASKARA BHANDARY, et autres
Publié: (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
par: Ana Rita Couto, et autres
Publié: (2022-10-01)

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

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

Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report
par: Al Kaissi Ali, et autres
Publié: (2008-08-01)

Association between ossification of the posterior longitudinal ligament and ossification of the nuchal ligament in the cervical spine.
par: Myung Sub Kim, et autres
Publié: (2019-01-01)

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
par: Ana Rita Couto, et autres
Publié: (2024-08-01)

Ossification of the Anterior Longitudinal Ligament with Dysphagia as the First Symptom: Rehabilitation of Two Cases
par: Norihiro Nishida, et autres
Publié: (2021-08-01)

Combined Anterior and Posterior Decompression With Fusion for Cervical Ossification of the Posterior Longitudinal Ligament
par: Chao-Hung Kuo, et autres
Publié: (2022-01-01)

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
par: Yunsoo Choe, et autres
Publié: (2022-07-01)

Direct anterior decompression in patients with ossification of the posterior longitudinal ligament significantly relieves short-segment spinal cord high signal
par: Zichuan Wu, et autres
Publié: (2024-10-01)

Complete ossification of stylohyoid ligament
par: Arun Kumar S.Bilodi, et autres
Publié: (2013-04-01)

Pycnodysostosis with Multi-Segmental Spinal Canal Stenosis due to Ossification of the Yellow Ligament
par: Keiji Wada, et autres
Publié: (2015-04-01)

An Age-old Debate: Anterior Versus Posterior Surgery for Ossification of the Posterior Longitudinal Ligament
par: Ali Moghaddamjou, et autres
Publié: (2019-09-01)

A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis
par: Yasmine Makhlouf, et autres
Publié: (2021-05-01)

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