Associated Papers
Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.
Michou L et al.
Joint Bone Spine, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Kishnani PS et al.
American Journal of Medical Genetics. Part A, 2024
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 2022
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Shajani-Yi Z et al.
Bone, 2022
Molecular testing strategies in the evaluation of fetal skeletal dysplasia.
Jelin AC et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
Araci MB et al.
Annals of Clinical Biochemistry, 2021
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 2021
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.
Huggins E et al.
Molecular Genetics and Metabolism Reports, 2020
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M et al.
Orphanet Journal of Rare Diseases, 2020
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.
Nguyen HH et al.
Jbmr Plus, 2018
Mutational and biochemical findings in adults with persistent hypophosphatasemia.
McKiernan FE et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
Mentrup B et al.
Bone, 2017
Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.
Mori M et al.
Bone Reports, 2016
Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective.
Bloch-Zupan A
International Journal of Paediatric Dentistry, 2016
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP et al.
Bone, 2015
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.
Reibel A et al.
Orphanet Journal of Rare Diseases, 2009
[Molecular basis of hypophosphatasia].
Oda K
Seikagaku. the Journal of Japanese Biochemical Society, 2008
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000