X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
osteogenesis imperfecta (55) 55
humans (54) 54
index medicus (54) 54
bruck syndrome (53) 53
collagen (43) 43
osteogenesis imperfecta - genetics (37) 37
bruck-syndrome (36) 36
genetics & heredity (27) 27
mutation (27) 27
male (26) 26
mutations (25) 25
female (23) 23
animals (21) 21
i collagen (18) 18
biochemistry & molecular biology (17) 17
endocrinology & metabolism (17) 17
recessive osteogenesis imperfecta (17) 17
genes (16) 16
identification (16) 16
tacrolimus binding proteins - genetics (16) 16
bone (15) 15
child (14) 14
fkbp10 (14) 14
article (13) 13
child, preschool (13) 13
fractures (13) 13
osteogenesis imperfecta - pathology (13) 13
osteoporosis (13) 13
collagen - metabolism (12) 12
infant (12) 12
mice (12) 12
osteogenesis imperfecta - diagnosis (12) 12
collagen type i - genetics (11) 11
congenital joint contractures (11) 11
cross-linking (11) 11
genetic aspects (11) 11
hydroxylation (11) 11
telopeptide lysyl hydroxylase (11) 11
arthrogryposis - genetics (10) 10
endoplasmic-reticulum (10) 10
expression (10) 10
genes, recessive (10) 10
osteogenesis imperfecta - diagnostic imaging (10) 10
phenotype (10) 10
plod2 (10) 10
syndrome (10) 10
adult (9) 9
analysis (9) 9
base sequence (9) 9
cell biology (9) 9
infant, newborn (9) 9
molecular sequence data (9) 9
orthopedics (9) 9
pedigree (9) 9
radiography (9) 9
bones (8) 8
collagen type i - metabolism (8) 8
hydroxylases (8) 8
lysyl hydroxylase (8) 8
osteogenesis imperfecta - metabolism (8) 8
pediatrics (8) 8
procollagen-lysine, 2-oxoglutarate 5-dioxygenase - genetics (8) 8
protein processing, post-translational (8) 8
tacrolimus binding proteins - metabolism (8) 8
amino acid sequence (7) 7
collagen - chemistry (7) 7
collagen cross-linking (7) 7
density (7) 7
diagnosis (7) 7
ehlers-danlos-syndrome (7) 7
mineralization (7) 7
osteogenesis (7) 7
post-translational modification (7) 7
syndrome type-vi (7) 7
adolescent (6) 6
bone and bones - metabolism (6) 6
collagen type i (6) 6
consanguinity (6) 6
cyclophilin-b (6) 6
endoplasmic reticulum (6) 6
epithelium-derived factor (6) 6
fibrosis (6) 6
fk506-binding protein (6) 6
fkbp10 cause (6) 6
fkbp65 (6) 6
gene mutations (6) 6
homozygote (6) 6
lysine (6) 6
procollagen-lysine, 2-oxoglutarate 5-dioxygenase - metabolism (6) 6
prolyl 3-hydroxylation (6) 6
protein (6) 6
arthrogryposis - diagnosis (5) 5
bone fragility (5) 5
calcification, physiologic (5) 5
cartilage (5) 5
cells, cultured (5) 5
cross-linking reagents - metabolism (5) 5
cyclophilins - genetics (5) 5
development and progression (5) 5
diagnosis, differential (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2011, Volume 26, Issue 3, pp. 666 - 672
Journal Article
Human Mutation, ISSN 1059-7794, 09/2013, Volume 34, Issue 9, pp. 1279 - 1288
Recessive mutations in FKBP10 at 17q21.2, encoding FKBP 65, cause both osteogenesis imperfecta ( OI ) and B ruck syndrome ( OI plus congenital contractures).... 
FKBP10 | cross‐linking | ruck syndrome | FKBP | contractures | osteogenesis imperfecta | Osteogenesis imperfecta | FKBP65 | Bruck syndrome | Contractures | Cross-linking | cross-linking | GENETICS & HEREDITY | Genetic aspects | Genetic disorders | Hydroxylases | Hydroxylation | Collagen | Fibroblasts | Mutation
Journal Article
Calcified Tissue International, ISSN 0171-967X, 3/2018, Volume 102, Issue 3, pp. 296 - 309
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones
Journal Article
Osteoporosis International, ISSN 0937-941X, 1/2016, Volume 27, Issue 1, pp. 81 - 92
Journal Article
Endokrynologia Polska, ISSN 0423-104X, 2015, Volume 66, Issue 2, pp. 170 - 174
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been... 
Osteogenesis imperfecta | Bruck | FKBP10 gene novel mutation | Arthrogryposis | Joint contracture | arthrogryposis | joint contracture | ENDOCRINOLOGY & METABOLISM | osteogenesis imperfecta | ARTHROGRYPOSIS MULTIPLEX CONGENITA | SYNDROME OSTEOGENESIS IMPERFECTA
Journal Article
Journal Article
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery, ISSN 2309-3994, 2015, Volume 3, Issue 3, pp. 44 - 47
The article describes the clinical case of an infant with Bruck syndrome. The clinical and radiological analyses showed the presence of systemic osteoporosis... 
Osteoporosis | Bruck syndrome | Children | Joint contractures | синдром Брука | контрактуры суставов | дети | остеопороз
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2016, Volume 113, Issue 26, pp. 7142 - 7147
Journal Article
Journal Article
Journal of Nepal Paediatric Society, ISSN 1990-7974, 09/2018, Volume 37, Issue 3, pp. 276 - 279
Journal Article
The Indian Journal of Pediatrics, ISSN 0019-5456, 5/2005, Volume 72, Issue 5, pp. 441 - 442
The combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. This combination is named Bruck syndrome. A 34 week male... 
Pediatrics | Neonate | Medicine & Public Health | Gynecology | Osteogenesis imperfecta | Bruck syndrome | Arthrogryposis | Osteogenesis Imperfecta - diagnosis | Humans | Infant, Premature | Male | Infant, Newborn | Syndrome | Arthrogryposis - diagnosis
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2012, Volume 55, Issue 1, pp. 17 - 21
We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI type III)... 
Collagen type I | FKBP10 | Bruck syndrome | Genetic disorders | Universities and colleges | Petroleum industry | Analysis | Genes
Journal Article