Disease: Pyle disease
- A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
- A case of Pyle's congenital familial bone dysplasia ("Pyle's disease")
- A case of Schmid's disease (metaphyseal dysostosis)
- A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia
- A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease
- A novel sequence variant in SFRP4 causing Pyle disease
- A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia
- A review of the osteopetroses
- Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation
- An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
- An extremely rare case: osteosclerotic metaphyseal dysplasia
- Anesthetic management for cesarean delivery for a parturient with metaphyseal dysplasia and hypophosphatemic rickets
- ANOTHER CASE OF FAMILIAL METAPHYSEAL DYSPLASIA OR PYLE'S DISEASE
- Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease)
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
- Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
- Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia
- Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
- Case of familial metaphyseal dysplasia (Pyle) associated with idiopathic macular atrophy and demyelinating encephalopathy
- Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation
- Clinical and genetic features of Schwartz-Jampel syndrome in a Chinese child: case report and literature review
- Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease
- Craniofacial, dental, and molecular features of Pyle disease in a South African child
- DESCRIPTION OF BONE DISEASES. 3. SPONDYLO-EPIPHYSO-METAPHYSEAL DYSPLASIAS
- Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network
- Developmental characteristics of various types of hand bones of Poland's syndrome
- Duchenne muscular dystrophy disease severity impacts skeletal muscle progenitor cells systemic delivery
- Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity
- Familial bone disease resembling rickets (hereditary metaphysial dysostosis)
- FAMILIAL DYSPLASIS OF THE METAPHYSIS--PYLE'S DISEASE
- Familial metaphysial dysostosis. Study of 4 cases in siblings
- Familial metaphysial dysplasia
- FAMILIAL METAPHYSIAL DYSPLASIA
- Familial metaphysial dysplasia: Plye's disease
- Feasibility and impact of haplogroup matching for mitochondrial replacement treatment
- Further evidence for the involvement of <em>EFL1</em> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features
- Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features
- Further phenotypic features and two novel <em>POC1A</em> variants in a patient with SOFT syndrome: A case report
- Gain of function in CDKN1C
- Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease
- Genome Mining Uncovers a Flavoenzyme-Catalyzed Isomerization Process during the Maturation of Pyrenophorol Dilactones
- Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes
- Growth in individuals with Saul-Wilson syndrome
- Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
- Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia
- Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
- Increasing Use of Diabetes Devices: What Do Health Care Professionals Need?
- Innovative Animal Models Of Cardiac Remodeling: Development And Evaluation
- Intracranial Hypertension in Children: Etiologies, Clinical Features, and Outcome
- Left ventricular pseudoaneurysm without antecedent myocardial infarction
- Metaphyeal and Diaphyseal Dysplasia of the Third Cervical Vertebra Secondary to Physeal Necrosis in a Quarter Horse Foal
- Metaphyseal chondrodysplasia of Jansen
- Metaphyseal dysostosis
- METAPHYSEAL DYSOSTOSIS
- Metaphyseal dysostosis
- METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME?
- Metaphyseal dysostosis of mixed type in a female child
- Metaphyseal dysostosis: questionably a form of vitamin D-resistant rickets
- METAPHYSEAL DYSOSTOSIS. REPORT OF FIVE FAMILIAL AND TWO SPORADIC CASES OF A MILD TYPE
- Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis
- Metaphyseal dysplasia associated with chronic facial nerve palsy
- Metaphyseal dysplasia due to lead poisoning in children
- Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings
- METAPHYSIAL DYSOSTOSIS AND MODIFICATIONS OF THE HAIR. A NEW (?) SYNDROME OF AUTOSOMAL RECESSIVE TRANSMISSION
- METAPHYSIAL DYSOSTOSIS, TYPE SCHMID
- Metaphysial dysostosis?
- Metaphysial dysplasia with osseous condensation. (Its relation to Pyle's disease and Albers-Schoenberg disease)
- METAPHYSIAL PUNCTATE DYSOSTOSIS
- Multicentric fibromatosis with metaphyseal dysplasia
- Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
- Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
- New Study by HSDM Researchers May Have Implications for Treating Osteoporosis
- On a case of Schmid's disease (metaphysial dysostosis)
- Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis
- Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review
- Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literature
- Predominant myosin superrelaxed state in canine myocardium with naturally occurring dilated cardiomyopathy
- Pyle disease
- Pyle disease (metaphyseal dysplasia)
- Pyle disease (metaphyseal dysplasia) presenting in two adult sisters
- Pyle metaphyseal dysplasia in an African child: Case report and review of the literature
- Pyle's disease or familial metaphysial dysplasia (apropos of a new case)
- Pyle's Disease: A human model of differentiated cortical and trabecular homeostasis
- Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade
- Roentgenography of the ear and eye in Pyle disease
- RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease
- Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management
- Sfrp4 and the Biology of Cortical Bone
- Sfrp4 repression of the Ror2/Jnk cascade in osteoclasts protects cortical bone from excessive endosteal resorption
- Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia
- Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
- Sodium glucose co-transporter 2 inhibition increases epidermal growth factor expression and improves outcomes in patients with type 2 diabetes
- Taurodontism in dental genetics
- The First Report of Biallelic Missense Mutations in the <em>SFRP4</em> Gene Causing Pyle Disease in Two Siblings
- The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings
- The Many Hosts of Mycobacteria 9 (MHM9): A conference report
- THE NATURAL HISTORY OF METAPHYSEAL DYSOSTOSIS
- The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia
- The radiological manifestations of metaphyseal dysplasia (Pyle disease)
- Vulvar Lichen Sclerosus Clinical Severity Scales and Histopathologic Correlation: A Case Series