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

ग्रंथसूची विवरण
मुख्य लेखकों:	Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2012

Windswept lower limb deformities in patients with hypophosphataemic rickets
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Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphataemic rickets.
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प्रकाशित: (1996)

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
द्वारा: Read, A, और अन्य
प्रकाशित: (1986)

X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
द्वारा: Christie, P, और अन्य
प्रकाशित: (2000)

Bridging markers defining the map position of X linked hypophosphataemic rickets.
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1987)

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults
द्वारा: Tavana, Nahid, और अन्य
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Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
द्वारा: Ender COŞKUNPINAR, और अन्य
प्रकाशित: (2018-04-01)

Genetic linkage studies of X-linked hypophosphataemic rickets in a Saudi Arabian family.
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1992)

Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
द्वारा: Eda Çelebi Bitkin, और अन्य
प्रकाशित: (2022-06-01)

X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
द्वारा: Dixon, P, और अन्य
प्रकाशित: (1997)

Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients’ Dental Management
द्वारा: Lorna Hirst, और अन्य
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Incidence of ossification of the spinal ligaments in acromegaly patients
द्वारा: Yoshitomo Hoshino, और अन्य
प्रकाशित: (2022-12-01)

Investigation of the biomarkers involved in ectopic ossification: The shared mechanism in ossification of the spinal ligament
द्वारा: Jiachen Liu, और अन्य
प्रकाशित: (2022-10-01)

Selective Angiography to Detect Anterior Spinal Artery Stenosis in Thoracic Ossification of the Posterior Longitudinal Ligament
द्वारा: Go Yoshida, और अन्य
प्रकाशित: (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.
द्वारा: Russell, R, और अन्य
प्रकाशित: (1975)

Effects of a diphosphonate (disodium etidronate: EHDP) on phosphate metabolism in Paget's disease of bone, primary hyperparathyroidism and type I hypophosphataemic rickets.
द्वारा: Walton, R, और अन्य
प्रकाशित: (1976)

Progression of Spinal Ligament Ossification in Patients with Thoracic Myelopathy
द्वारा: Jiliang Zhai, और अन्य
प्रकाशित: (2022-09-01)

Risk factors of dysphagia in patients with ossification of the anterior longitudinal ligament
द्वारा: Hirosuke Nishimura, और अन्य
प्रकाशित: (2020-10-01)

Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
द्वारा: Jie Liu, और अन्य
प्रकाशित: (2023-04-01)

Lumbar ossification of the ligamentum flavum reflects a strong ossification tendency of the entire spinal ligament
द्वारा: Kazuha Nakabachi, और अन्य
प्रकाशित: (2023-01-01)

Strong relationship between dyslipidemia and the ectopic ossification of the spinal ligaments
द्वारा: Tsutomu Endo, और अन्य
प्रकाशित: (2022-12-01)

Autophagy in spinal ligament fibroblasts: evidence and possible implications for ossification of the posterior longitudinal ligament
द्वारा: Yuehua Yang, और अन्य
प्रकाशित: (2020-10-01)

To Study the Incidence of Heterotopic Ossification After Anterior Cruciate Ligament Reconstruction
द्वारा: BHASKARA BHANDARY, और अन्य
प्रकाशित: (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
द्वारा: Ana Rita Couto, और अन्य
प्रकाशित: (2022-10-01)

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

Introduction to the Essence of Clinical Practice Guidelines for Ossification of Spinal Ligaments, 2019
द्वारा: Yoshiharu Kawaguchi
प्रकाशित: (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
द्वारा: Carmine Pecoraro, और अन्य
प्रकाशित: (2023-07-01)

Ossification of the Anterior Longitudinal Ligament with Dysphagia as the First Symptom: Rehabilitation of Two Cases
द्वारा: Norihiro Nishida, और अन्य
प्रकाशित: (2021-08-01)

Combined Anterior and Posterior Decompression With Fusion for Cervical Ossification of the Posterior Longitudinal Ligament
द्वारा: Chao-Hung Kuo, और अन्य
प्रकाशित: (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
द्वारा: Ana Rita Couto, और अन्य
प्रकाशित: (2024-08-01)

Direct anterior decompression in patients with ossification of the posterior longitudinal ligament significantly relieves short-segment spinal cord high signal
द्वारा: Zichuan Wu, और अन्य
प्रकाशित: (2024-10-01)

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
द्वारा: Yunsoo Choe, और अन्य
प्रकाशित: (2022-07-01)

Complete ossification of stylohyoid ligament
द्वारा: Arun Kumar S.Bilodi, और अन्य
प्रकाशित: (2013-04-01)

An Age-old Debate: Anterior Versus Posterior Surgery for Ossification of the Posterior Longitudinal Ligament
द्वारा: Ali Moghaddamjou, और अन्य
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The Essence of Clinical Practice Guidelines for Ossification of Spinal Ligaments, 2019: 6. Diagnosis of OLF
द्वारा: Masao Koda
प्रकाशित: (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
द्वारा: Zichuan Wu, और अन्य
प्रकाशित: (2023-11-01)

Dysphagia Turns Out to Be Ossification of the Anterior Longitudinal Ligament of The Cervical Spine: A Case Report
द्वारा: P. G. N. Danushka, और अन्य
प्रकाशित: (2025-01-01)

Outcome of anterior key-hole corpectomy for cervical spondylotic myelopathy with ossification of posterior longitudinal ligament
द्वारा: Yunus Aydin, और अन्य
प्रकाशित: (2023-01-01)

Surgical results and prognostic factors of anterior cervical corpectomy and fusion for ossification of the posterior longitudinal ligament.
द्वारा: Yu Chen, और अन्य
प्रकाशित: (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
द्वारा: Razali, Nurul Nadirah, और अन्य
प्रकाशित: (2019)

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

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