相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
Stephen E. Lincoln et al.
GENETICS IN MEDICINE (2021)
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Hane Lee et al.
GENETICS IN MEDICINE (2020)
Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis
Samuel Hawley et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)
X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3 '-UTR Mutation c.*231A > G (A Retrospective Case-Control Study)
Pamela S. Smith et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2020)
Enhancing Diagnosis Through RNA Sequencing
David R. Murdock
CLINICS IN LABORATORY MEDICINE (2020)
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes
Rebecca Truty et al.
GENETICS IN MEDICINE (2019)
FGF23 and its role in X-linked hypophosphatemia-related morbidity
Signe Sparre Beck-Nielsen et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial
Erik A. Imel et al.
LANCET (2019)
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
Dieter Haffner et al.
NATURE REVIEWS NEPHROLOGY (2019)
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene
Cristina Garcia-Fontana et al.
SCIENTIFIC REPORTS (2019)
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors
Jeffrey S. Bennett et al.
PEDIATRIC CARDIOLOGY (2019)
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
Tychele N. Turner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance
Ginger J. Tsai et al.
GENETICS IN MEDICINE (2019)
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer
Rachid Karam et al.
JAMA NETWORK OPEN (2019)
Burosumab Therapy in Children with X-Linked Hypophosphatemia
Thomas O. Carpenter et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Hypophosphatasia: From Diagnosis to Treatment
Sebastian Simon et al.
CURRENT RHEUMATOLOGY REPORTS (2018)
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria
Keith Nykamp et al.
GENETICS IN MEDICINE (2017)
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Arnaud Molin et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2017)
Tumour-induced osteomalacia
Salvatore Minisola et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues
Shwetha Kuthiroly et al.
JOURNAL OF PEDIATRIC GENETICS (2017)
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
Ayla Guven et al.
CLINICAL ENDOCRINOLOGY (2017)
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications
Silje Rafaelsen et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation
Sadaqat Ijaz et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2016)
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population
Bahar Ozcabi et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2016)
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance
Nicholas T. Woods et al.
NPJ GENOMIC MEDICINE (2016)
Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints
Scott Newman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations
Ana Carolina Acevedo et al.
BMC MEDICAL GENETICS (2015)
Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients
Michael P. Whyte et al.
BONE (2015)
Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment
Itsuro Endo et al.
ENDOCRINE JOURNAL (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency
Tom D. Thacher et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia
B. L. Foster et al.
JOURNAL OF DENTAL RESEARCH (2015)
A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients
Stephen E. Lincoln et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2015)
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1
Elisabeth Steichen-Gersdorf et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2015)
PHEX 3′-UTR c.*231A>G Near The Polyadenylation Signal is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X-Linked Recessive Hypophosphatemic Rickets
Steven Mumm et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
Unusually Severe Hypophosphatemic Rickets Caused by a Novel and Complex Re-Arrangement of the PHEX Gene
Tuula Pekkarinen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia
Marie-Helene Gannage-Yared et al.
BONE (2014)
Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia
Yuka Kinoshita et al.
BONE (2014)
Hypophosphatemic rickets: etiology, clinical features and treatment
Vito Pavone et al.
European Journal of Orthopaedic Surgery and Traumatology (2014)
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Periklis Makrythanasis et al.
HUMAN MUTATION (2014)
Clinical and Radiographic Findings in Adults With Persistent Hypophosphatasemia
Fergus Eoin McKiernan et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2014)
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients
Tomoko Lee et al.
JOURNAL OF HUMAN GENETICS (2014)
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Debayan Dasgupta et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Peter J. Malloy et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets
Erdem Durmaz et al.
BONE (2013)
Clinical spectrum of hypophosphatasia diagnosed in adults
Kathryn E. Berkseth et al.
BONE (2013)
Autosomal dominant hypophosphatemic rickets in an 85 year old woman: Characterization of her disease from infancy through adulthood
Margaret Seton et al.
BONE (2013)
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification
Silje Hjorth Rafaelsen et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2013)
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria
Sakiko Haito-Sugino et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2012)
Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A
Erdem Durmaz et al.
CLINICAL ENDOCRINOLOGY (2012)
Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice
Andrew C. Karaplis et al.
ENDOCRINOLOGY (2012)
Mutational analysis of patients with FGF23-related hypophosphatemic rickets
Yuka Kinoshita et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)
FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets
Yue Sun et al.
JOURNAL OF BONE AND MINERAL METABOLISM (2012)
The expanding family of hypophosphatemic syndromes
Thomas O. Carpenter
JOURNAL OF BONE AND MINERAL METABOLISM (2012)
Mutation of the CYP2R1 Vitamin D 25-Hydroxylase in a Saudi Arabian Family with Severe Vitamin D Deficiency
Angham N. Al Mutair et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification
Puja Mehta et al.
RHEUMATOLOGY (2012)
Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice
P. Vogel et al.
VETERINARY PATHOLOGY (2012)
Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice
Xiaofang Wang et al.
PLOS GENETICS (2012)
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene
Tasuku Saito et al.
BONE (2011)
A Clinician's Guide to X-Linked Hypophosphatemia
Thomas O. Carpenter et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2011)
Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
Bettina Lorenz-Depiereux et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent
Gurpreet Singh Kochar et al.
CLINICAL DYSMORPHOLOGY (2010)
Osteoglophonic dysplasia: A 'common' mutation in a rare disease
A. J. Sow et al.
CLINICAL GENETICS (2010)
A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets
Ryusuke Koshida et al.
JOURNAL OF BONE AND MINERAL METABOLISM (2010)
Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations
Erik A. Imel et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
Delphine Fauvert et al.
BMC MEDICAL GENETICS (2009)
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets
Emily G. Farrow et al.
BONE (2009)
Incidence and prevalence of nutritional and hereditary rickets in southern Denmark
Signe Sparre Beck-Nielsen et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2009)
PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets
Celine Gaucher et al.
HUMAN GENETICS (2009)
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
Shoji Ichikawa et al.
BONE (2008)
Dentin matrix protein 1 (DMP1): New and important roles for biomineralization and phosphate homeostasis
C. Qin et al.
JOURNAL OF DENTAL RESEARCH (2007)
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development
M. A. Simpson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Vitamin D 1α-hydroxylase gene mutations in patients with 1α-hydroxylase deficiency
Chan Jong Kim et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
Jian Q. Feng et al.
NATURE GENETICS (2006)
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia
EG Farrow et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
C Bergwitz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
B Lorenz-Depiereux et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
DMP1 depletion decreases bone mineralization in vivo: An FTIR imaging analysis
YF Ling et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2005)
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation
KE White et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Evidence for genetic heterogeneity in Dent's disease
RR Hoopes et al.
KIDNEY INTERNATIONAL (2004)
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase
JB Cheng et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Dual functional roles of dentin matrix protein 1 -: Implications in biomineralization and gene transcription by activation of intracellular Ca2+ store
K Narayanan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia
Y Yamazaki et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
CIC-5Cl--channel disruption impairs endocytosis in a mouse model for Dent's disease
N Piwon et al.
NATURE (2000)
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
KE White et al.
NATURE GENETICS (2000)
Characterization of a family with dominant hypophosphatasia
JCC Hu et al.
EUROPEAN JOURNAL OF ORAL SCIENCES (2000)