• 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