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gnathodiaphyseal dysplasia (22) 22
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Head & Neck, ISSN 1043-3074, 01/2019, Volume 41, Issue 1, pp. 230 - 238
Background Gnathodiaphyseal dysplasia (GDD) is a rare skeletal disorder that has not been well studied. Methods Sanger sequencing, whole-genome sequencing... 
cherubism | whole‐genome sequencing | gnathodiaphyseal dysplasia | ANO5 | SH3BP2 | whole-genome sequencing | SURGERY | OTORHINOLARYNGOLOGY | TMEM16 PROTEIN FAMILY | Literature reviews | Dysplasia | Genomes | Differential diagnosis | Mutation | Bioinformatics
Journal Article
Bone, ISSN 8756-3282, 03/2019, Volume 120, pp. 432 - 438
Anoctamin 5 (Ano5) mutations are responsible for gnathodiaphyseal dysplasia, a rare skeletal syndrome. Despite the close linkage of Ano5 to bone remodeling,... 
Osteoblast | Osteoclast | Anoctamin 5 | Gnathodiaphyseal dysplasia | PROTEIN | OSTEOIMMUNOLOGY | NFATC1 | GDD1 | ANO5 | IMMUNE | MUTATION | ENDOCRINOLOGY & METABOLISM | EXPRESSION | BINDING | TMEM16E
Journal Article
Calcified Tissue International, ISSN 0171-967X, 6/2019, Volume 104, Issue 6, pp. 679 - 689
Gnathodiaphyseal dysplasia (GDD; OMIM#166260) is a rare skeletal disorder which is mainly characterized by cemento-osseous lesions in mandibles, bone... 
Life Sciences | Biochemistry, general | Genetic disorder | Osteoblastogenesis | Orthopedics | Skeletal phenotype | Ano5 | Endocrinology | Cell Biology | Gnathodiaphyseal dysplasia | PROTEIN | MOUSE | MUSCULAR-DYSTROPHY | MODEL | PREVALENCE | FAMILY | MUTATION | ENDOCRINOLOGY & METABOLISM | COHORT | CRISPR | Alkaline phosphatase | Femur | Dysplasia | Sclerosis | Bone growth | Calvaria | Tibia | Mandibles | Mutation | Bone matrix | Osteogenesis
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2019, Volume 64, Issue 7, pp. 599 - 607
Familial florid osseous dysplasia (FFOD) is an autosomal dominant disorder of connective tissue, characterized by lobulated cementum-like masses scattered... 
FIBROOSSEOUS LESIONS | JAWS | PROTEIN | VARIANTS | DISEASE | GENETICS & HEREDITY | GNATHODIAPHYSEAL DYSPLASIA | CANCER
Journal Article
BMC MUSCULOSKELETAL DISORDERS, ISSN 1471-2474, 02/2019, Volume 20, Issue 1, pp. 92 - 6
BackgroundGnathodiaphyseal dysplasia (GDD) is an extremely rare autosomal dominant disease characterized by cemento-osseous lesions in the jawbones, bone... 
Femoral shaft fractures | Recurrent fracture | External fixation | Intramedullary devise | OSTEOGENESIS IMPERFECTA | RHEUMATOLOGY | ORTHOPEDICS | SURGICAL-TREATMENT | Gnathodiaphyseal dysplasia | Femur | Care and treatment | Bone diseases | Health aspects | Pediatrics | Dysplasia | Fractures | Pain | Surgery | Bones | Systematic review | Vertebra | Bone density | Patients | Sclerosis
Journal Article
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ISSN 0006-291X, 06/2005, Volume 331, Issue 4, pp. 1099 - 1106
Mutations in the GDD1 gene cause gnathodiaphyseal dysplasia. a rare human skeletal syndrome with autosomal dominant inheritance. The biochemical function(s) of... 
PROTEIN | BIOPHYSICS | gnathodiaphyseal dysplasia | IN-SILICO | BIOCHEMISTRY & MOLECULAR BIOLOGY | TMEM16 gene family | GDD1 | osteogenesis | myogenesis | IDENTIFICATION | LESIONS | TMEM16E
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 2005, Volume 331, Issue 4, pp. 1099 - 1106
Mutations in the gene cause gnathodiaphyseal dysplasia, a rare human skeletal syndrome with autosomal dominant inheritance. The biochemical function(s) of GDD1... 
TMEM16 gene family | GDD1 | Myogenesis | Osteogenesis | Gnathodiaphyseal dysplasia | Blotting, Northern | Animals | Alternative Splicing | Membrane Proteins - genetics | Base Sequence | Cloning, Molecular | Mice | Reverse Transcriptase Polymerase Chain Reaction | RNA, Messenger | DNA, Complementary
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 09/2001, Volume 16, Issue 9, pp. 1710 - 1718
We report an unusual generalized skeletal syndrome characterized by fibro‐osseous lesions of the jawbones with a prominent psammomatoid body component, bone... 
fibro‐osseous | craniognathic | gnathodiaphyseal dysplasia | bone fragility | bowing | craniofacial | cemento‐ossifying fibroma | fibrous dysplasia | ossifying fibroma | psammomatoid bodies | fractures | Fibro-osseous | Bone fragility | Cemento-ossifying fibroma | Craniognathic | Fractures | Fibrous dysplasia | Ossifying fibroma | Psammomatoid bodies | Craniofacial | Bowing | Gnathodiaphyseal dysplasia | CELLS | cemento-ossifying fibroma | MCCUNE-ALBRIGHT-SYNDROME | fibro-osseous | FIBROOSSEOUS LESIONS | GENE | ENDOCRINOLOGY & METABOLISM | OSTEOGENESIS IMPERFECTA | MICE | MUTATIONS | Fibroma, Ossifying - genetics | Humans | Camurati-Engelmann Syndrome - genetics | Cementoma - physiopathology | Child, Preschool | Male | Camurati-Engelmann Syndrome - physiopathology | Fibrous Dysplasia, Polyostotic - pathology | Jaw Neoplasms - pathology | Fibrous Dysplasia, Polyostotic - genetics | GTP-Binding Protein alpha Subunits, Gs - genetics | Camurati-Engelmann Syndrome - diagnostic imaging | Cementoma - pathology | Camurati-Engelmann Syndrome - pathology | DNA Mutational Analysis | Jaw - pathology | Cementoma - genetics | Fibroma, Ossifying - physiopathology | Fibroma, Ossifying - pathology | Fibrous Dysplasia, Polyostotic - diagnostic imaging | Syndrome | Radiography | Jaw - physiopathology | Animals | Cementoma - diagnostic imaging | Jaw Neoplasms - physiopathology | Jaw Neoplasms - diagnostic imaging | Mice | Fibrous Dysplasia, Polyostotic - physiopathology | Jaw Neoplasms - genetics | Fibroma, Ossifying - diagnostic imaging
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2013, Volume 21, Issue 6, pp. 613 - 619
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 02/2013, Volume 28, Issue 2, pp. 246 - 259
Journal Article