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18 Einträge gefunden

Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency
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
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
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis
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
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency
2020 - Forschungsinformationssystem des UKE
Mice lacking plastin-3 display a specific defect of cortical bone acquisition
2020 - Forschungsinformationssystem des UKE
Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene
2020 - 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
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II)
2018 - Forschungsinformationssystem des UKE
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
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
2006 - Forschungsinformationssystem des UKE
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
2005 - Forschungsinformationssystem des UKE

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Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)

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

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

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

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

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

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

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

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

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

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

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

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

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.