X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
craniometaphyseal dysplasia (141) 141
index medicus (108) 108
humans (97) 97
female (47) 47
male (46) 46
animals (35) 35
mice (25) 25
mutation (25) 25
mutations (25) 25
child (23) 23
adult (22) 22
dysplasia (22) 22
genetics & heredity (21) 21
phosphate transport proteins (21) 21
rheumatology (21) 21
inorganic pyrophosphate (20) 20
membrane proteins - genetics (19) 19
phosphate transport proteins - genetics (19) 19
bone diseases, developmental - genetics (18) 18
expression (18) 18
radiography (18) 18
endocrinology & metabolism (17) 17
pedigree (17) 17
child, preschool (16) 16
infant (16) 16
surgery (16) 16
adolescent (15) 15
bone diseases, developmental - complications (15) 15
pediatrics (15) 15
skull - abnormalities (15) 15
arthritis (14) 14
pyrophosphate (14) 14
ankh (13) 13
calcification (13) 13
chondrocalcinosis (13) 13
craniofacial abnormalities - genetics (13) 13
disease (13) 13
gene (13) 13
genetic aspects (13) 13
skull - pathology (13) 13
tomography, x-ray computed (13) 13
ank (12) 12
clinical neurology (12) 12
diphosphates - metabolism (12) 12
middle aged (12) 12
osteopetrosis (12) 12
skull - diagnostic imaging (12) 12
genetics (11) 11
membrane proteins - metabolism (11) 11
otorhinolaryngology (11) 11
phosphate transport proteins - metabolism (11) 11
aged (10) 10
chondrocalcinosis - genetics (10) 10
hyperostosis (10) 10
hyperostosis - genetics (10) 10
magnetic resonance imaging (10) 10
mineralization (10) 10
phenotype (10) 10
protein (10) 10
bone dysplasia (9) 9
chromosome 5p (9) 9
foramen magnum decompression (9) 9
hypertelorism - genetics (9) 9
medicine & public health (9) 9
molecular sequence data (9) 9
neurosciences (9) 9
orthopedics (9) 9
amino acid sequence (8) 8
ank protein (8) 8
bone (8) 8
calcium pyrophosphate - metabolism (8) 8
cell biology (8) 8
craniofacial abnormalities - complications (8) 8
decompression (8) 8
disease models, animal (8) 8
mouse model (8) 8
otolaryngology (8) 8
physiological aspects (8) 8
sclerosis (8) 8
alkaline-phosphatase (7) 7
analysis (7) 7
bone diseases (7) 7
bone diseases, developmental - diagnosis (7) 7
bone diseases, developmental - diagnostic imaging (7) 7
case report (7) 7
cells (7) 7
chiari malformation (7) 7
gene mutations (7) 7
hyperostosis - complications (7) 7
management (7) 7
medicine (7) 7
osteopathia striata (7) 7
posterior longitudinal ligament (7) 7
progressive ankylosis gene (7) 7
research (7) 7
young adult (7) 7
abridged index medicus (6) 6
ankylosing-spondylitis (6) 6
ankylosis (6) 6
bone and bones - diagnostic imaging (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Craniofacial surgery for craniometaphyseal dysplasia, 12/2006
Craniometaphyseal dysplasia (CMD) is a rare congenital bone dysplasia with abnormal bony overgrowth leading to characteristic facial features and cranial nerve... 
Craniofacial remodeling, craniometaphyseal dysplasia
Journal
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 15710 - 13
Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized by progressive thickening of... 
CELLS | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | IN-VIVO | PROTEASOME | RECEPTOR | ENDOPLASMIC-RETICULUM | PHE377DEL MUTATION | QUALITY-CONTROL | PLASMA-MEMBRANE | EXPRESSION | Phenotypes | Dysplasia | Ankylosis | Pathogenesis | Lysosomes | ANKH protein | Golgi apparatus | Proteins | Craniometaphyseal dysplasia | Plasma membranes | Proteasomes | ANK protein | Mutation | Localization | Endoplasmic reticulum | Cytoplasm
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2013, Volume 8, Issue 8, pp. e73576 - e73576
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an... 
OCULODENTODIGITAL DYSPLASIA | FORAMEN MAGNUM DECOMPRESSION | CONNEXIN43 | TGF-BETA | BONE-FORMATION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | JUNCTIONAL INTERCELLULAR COMMUNICATION | PARATHYROID-HORMONE | PHE377DEL MUTATION | OSTEOBLASTIC CELLS | Amino Acid Sequence | Tooth Abnormalities - diagnosis | Eye Abnormalities - diagnosis | Tooth Abnormalities - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Foot Deformities, Congenital - diagnosis | Foot Deformities, Congenital - genetics | Mutation, Missense | Eye Abnormalities - genetics | Genes, Recessive | Exome | Connexin 43 - chemistry | Sequence Alignment | Craniofacial Abnormalities - diagnosis | Pedigree | Consanguinity | High-Throughput Nucleotide Sequencing | Syndactyly - diagnosis | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Syndactyly - genetics | Phosphates | Dysplasia | Genetic aspects | Glutamine | Oculodentodigital dysplasia | Osteocytes | Genomes | Connexin 43 | Osteoblasts | Molecular weight | Proteins | Ethics | Biomedical materials | Missense mutation | Low molecular weights | Bone dysplasia | Bones | Biocompatibility | Deoxyribonucleic acid--DNA | Bone remodelling | Developmental biology | Abnormalities | Gap junctions | C-Terminus | Craniometaphyseal dysplasia | Hospitals | Chondrocytes | Syndactyly | Osteoclasts | Mutation | Bone | Transporter | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
Journal of Dental Research, ISSN 0022-0345, 2/2013, Volume 92, Issue 2, pp. 173 - 179
Mice carrying a knock-in mutation (Phe377del) in the Ank gene replicate many skeletal characteristics of human craniometaphyseal dysplasia, including... 
craniometaphyseal dysplasia | hyperostosis | bone remodeling | Ankh protein, mouse | incisor | dental cementum | INCISOR TEETH | TOOTH ERUPTION | TISSUE | ARTHRITIS | IN-VITRO | DENTISTRY, ORAL SURGERY & MEDICINE | CEMENTOBLAST GENE-EXPRESSION | PATIENT | CEMENTUM FORMATION | MUTATIONS | ANK | Incisor - abnormalities | Cell Proliferation | Mandibular Diseases - genetics | Cell Count | Bone Remodeling - physiology | Bone Diseases, Developmental - genetics | Integrin-Binding Sialoprotein - analysis | Bone Remodeling - drug effects | Bone Diseases, Developmental - pathology | Extracellular Matrix Proteins - analysis | Cell Shape | Craniofacial Abnormalities - pathology | Hyperostosis - pathology | Phosphate Transport Proteins - genetics | Craniofacial Abnormalities - genetics | Organ Culture Techniques | Disease Models, Animal | Hyperostosis - genetics | Osteoclasts - pathology | Tooth Eruption - physiology | Hypertelorism - genetics | Molar - abnormalities | Mice, Transgenic | Hypertelorism - pathology | Dental Cementum - abnormalities | Tooth Root - pathology | Bone Density Conservation Agents - pharmacology | Gene Knock-In Techniques | Phenotype | Animals | Tooth Abnormalities - pathology | Mandibular Diseases - pathology | Mice | Apoptosis - physiology | Odontoblasts - pathology | Diphosphonates - pharmacology | Tooth Apex - pathology | Index Medicus | Dentistry | Research Reports
Journal Article
Stem Cell Reports, ISSN 2213-6711, 11/2017, Volume 9, Issue 5, pp. 1369 - 1376
We identified osteoclast defects in craniometaphyseal dysplasia (CMD) using an easy-to-use protocol for differentiating osteoclasts from human induced... 
craniometaphyseal dysplasia | rare genetic bone disorder | hiPSC differentiated osteoclasts | osteoclastogenesis | SERUM-FREE | HEMATOPOIESIS | MOUSE MODEL | OSTEOBLASTS | EXPANSION | BONE REGENERATION | PHE377DEL MUTATION | PERIPHERAL-BLOOD | GENERATION | EMBRYOID BODIES | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Index Medicus
Journal Article
Imaging science in dentistry, ISSN 2233-7822, 12/2018, Volume 48, Issue 4, pp. 283 - 287
Craniometaphyseal dysplasia (CMD) is a rare hereditary disorder characterized by hyperostosis of the craniofacial bones and flared metaphyses of the long... 
Radiography, Panoramic | Craniometaphyseal Dysplasia, Autosomal Dominant | Case Report
Journal Article
Journal of Oral Biology and Craniofacial Research, ISSN 2212-4268, 2017, Volume 7, Issue 2, pp. 134 - 136
Abstract Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in... 
Otolaryngology | Craniometaphyseal Dysplasia | Hypercementosis | Sclerosing Osseous Dysplasia | Case studies | Dysplasia | Care and treatment | Research | Gene mutations | Risk factors | Genetic aspects | Case Study
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 07/2009, Volume 24, Issue 7, pp. 1206 - 1215
Craniometaphyseal dysplasia (CMD) is a monogenic human disorder characterized by thickening of craniofacial bones and flaring metaphyses of long bones.... 
Genetic disorder | Craniometaphyseal dysplasia | Skeletal phenotype | Biochemical marker | Ank | Index Medicus
Journal Article
Journal Article
Annali di stomatologia, ISSN 1824-0852, 04/2017, Volume 8, Issue 2, pp. 89 - 94
Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony... 
Journal Article
Journal of Negative Results in BioMedicine, ISSN 1477-5751, 10/2016, Volume 15, Issue 1, pp. 1 - 9
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 8/2011, Volume 78, Issue 8, pp. 1010 - 1012
Journal Article
Radiology Case Reports, ISSN 1930-0433, 2016, Volume 11, Issue 3, pp. 260 - 265
Abstract We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss.... 
Radiology | craniometaphyseal dysplasia | craniotubular dysplasia | Erlenmeyer flask deformity | ANKH gene mutation
Journal Article