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16 Einträge gefunden

Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene
2020 - Forschungsinformationssystem des UKE
Mice lacking plastin-3 display a specific defect of cortical bone acquisition
2020 - Forschungsinformationssystem des UKE
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency
2020 - Forschungsinformationssystem des UKE
Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
2020 - Forschungsinformationssystem des UKE
Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis
2020 - Forschungsinformationssystem des UKE
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)
2018 - Forschungsinformationssystem des UKE
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation
2018 - Forschungsinformationssystem des UKE - frei zugänglich
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis
2018 - Forschungsinformationssystem des UKE
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis
2017 - Forschungsinformationssystem des UKE
Disruption of the vacuolar-type H-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes
2017 - Forschungsinformationssystem des UKE
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
2014 - Forschungsinformationssystem des UKE

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Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)

Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations

Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency

Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)

Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene

Mice lacking plastin-3 display a specific defect of cortical bone acquisition

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis

Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis

Disruption of the vacuolar-type H-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3