X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1105) 1105
Book Review (290) 290
Publication (124) 124
Book Chapter (42) 42
Conference Proceeding (6) 6
Magazine Article (2) 2
Book / eBook (1) 1
Dissertation (1) 1
Newsletter (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (921) 921
humans (814) 814
osteomalacia (609) 609
male (423) 423
female (409) 409
endocrinology & metabolism (304) 304
animals (286) 286
rickets (285) 285
adult (277) 277
middle aged (238) 238
vitamin d (217) 217
mice (193) 193
hypophosphatemia (192) 192
osteomalacia - genetics (170) 170
fgf23 (166) 166
osteomalacia - etiology (166) 166
tumor-induced osteomalacia (142) 142
abridged index medicus (138) 138
child (138) 138
oncogenic osteomalacia (136) 136
osteoporosis (135) 135
adolescent (126) 126
aged (120) 120
fibroblast growth factors - genetics (120) 120
phosphate (119) 119
phosphates (118) 118
bone (115) 115
mutation (114) 114
x-linked hypophosphatemia (114) 114
phosphates - metabolism (111) 111
fibroblast growth factor 23 (109) 109
fibroblast growth factors - metabolism (103) 103
fgf-23 (101) 101
osteomalacia - metabolism (94) 94
radiography (92) 92
phosphate homeostasis (91) 91
medicine & public health (89) 89
orthopedics (89) 89
homeostasis (85) 85
parathyroid-hormone (85) 85
fibroblast growth factors (84) 84
fibroblast growth factors - blood (82) 82
phosphates - blood (80) 80
parathyroid hormone (79) 79
article (78) 78
bone and bones - metabolism (78) 78
bone density (76) 76
metabolism (74) 74
fibroblast growth factor-23 (73) 73
physiological aspects (73) 73
fibroblast-growth-factor-23 (72) 72
research (72) 72
risk factors (72) 72
urology & nephrology (71) 71
mineralization (70) 70
analysis (69) 69
bones (68) 68
diagnosis (68) 68
alfacalcidol (67) 67
tumors (67) 67
vitamin-d metabolism (67) 67
vitamin d - metabolism (66) 66
calcifediol (65) 65
chromosome disorders (65) 65
calcium (64) 64
child, preschool (64) 64
children (64) 64
gene (64) 64
intestinal polyps - genetics (64) 64
osteomalacia - diagnosis (64) 64
vitamin-d (64) 64
expression (62) 62
fractures (61) 61
hypophosphatemia, familial - genetics (61) 61
pedigree (59) 59
care and treatment (58) 58
dominant hypophosphatemic rickets (58) 58
mice, knockout (58) 58
d-resistant rickets (57) 57
osteomalacia - complications (57) 57
pex gene (57) 57
phex (57) 57
chromosome aberrations (56) 56
endocrinology (56) 56
hypophosphatemic rickets (56) 56
medicine, general & internal (55) 55
vitamin d deficiency (55) 55
osteomalacia - pathology (54) 54
rheumatology (54) 54
fibroblast growth factors - physiology (53) 53
osteomalacia - drug therapy (53) 53
phenotype (52) 52
genetic aspects (51) 51
hypophosphatemia - etiology (51) 51
infant (51) 51
mice, inbred c57bl (51) 51
osteomalacia - physiopathology (51) 51
medicine, research & experimental (50) 50
parathyroid hormone - blood (50) 50
pediatrics (50) 50
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1054) 1054
French (32) 32
Japanese (23) 23
German (21) 21
Portuguese (4) 4
Slovak (3) 3
Chinese (2) 2
Hungarian (2) 2
Polish (2) 2
Spanish (2) 2
Dutch (1) 1
Italian (1) 1
Norwegian (1) 1
Swedish (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Bone and Mineral Research, ISSN 0884-0431, 04/2017, Volume 32, Issue 4, pp. 757 - 769
In 1985, we briefly characterized “congenital sclerosing osteomalacia with cerebral calcification” (CSOCC) in infant sisters. Later, Raine syndrome (RNS)... 
CRANIOFACIAL DYSOSTOSIS | OSTEOMALACIA | RICKETS | DENTIN MATRIX PROTEIN | KINASE | PHOSPHOPROTEOME | CROUZON SYNDROME | CRANIOSYNOSTOSIS | HYPOPHOSPHATEMIA | SIBLING PROTEINS | OSTEOPONTIN | METOPIC SUTURE | MINERALIZATION | OSTEOSCLEROSIS | OSTEOPETROSIS | TRIGONOCEPHALY | AUTOSOMAL RECESSIVE SYNDROME | INTRACRANIAL CALCIFICATION | HYPOPLASTIC NOSE | SECRETED PROTEINS | ENDOCRINOLOGY & METABOLISM | OSTEOSCLEROTIC BONE DYSPLASIA | ANHYDRASE-II DEFICIENCY | CASEIN KINASE | RENAL TUBULAR-ACIDOSIS | Abnormalities, Multiple - metabolism | Calcinosis - genetics | Microcephaly - genetics | Cerebrum - diagnostic imaging | Casein Kinase I - genetics | Osteomalacia - diagnostic imaging | Humans | Calcinosis - diagnostic imaging | Male | Cleft Palate - genetics | Exophthalmos - genetics | Osteosclerosis - metabolism | Adult | Cerebrum - metabolism | Female | Osteomalacia - metabolism | Osteosclerosis - genetics | Calcinosis - metabolism | Cleft Palate - diagnostic imaging | Cerebrum - pathology | Osteosclerosis - diagnostic imaging | Abnormalities, Multiple - genetics | Extracellular Matrix Proteins - metabolism | Infant, Newborn | Extracellular Matrix Proteins - genetics | Microcephaly - metabolism | Abnormalities, Multiple - diagnostic imaging | Exophthalmos - diagnostic imaging | Microcephaly - diagnostic imaging | Osteomalacia - genetics | Exophthalmos - metabolism | Casein Kinase I - metabolism | Cleft Palate - metabolism | Medical research | Dysplasia | Genetic disorders | Calcification | Medicine, Experimental | Genetics | Genetic aspects | Histochemistry | Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2006, Volume 38, Issue 11, pp. 1310 - 1315
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 2, pp. 397 - 407
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 01/2005, Volume 115, Issue 1, pp. 177 - 186
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2006, Volume 38, Issue 11, pp. 1248 - 1250
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2014, Volume 9, Issue 5, pp. e97830 - e97830
Journal Article
Journal Article
Bone, ISSN 8756-3282, 2016, Volume 93, pp. 97 - 103
Journal Article
Calcified Tissue International, ISSN 0171-967X, 09/2009, Volume 85, Issue 3, pp. 211 - 220
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 01/2005, Volume 115, Issue 1, pp. 177 - 186
Vitamin D controls calcium homeostasis and the development and maintenance of bones through vitamin D receptor activation. Prolonged therapy with rifampicin or... 
MEDICINE, RESEARCH & EXPERIMENTAL | BONE-MINERAL DENSITY | HUMAN HEPATOCYTES | CYTOCHROME-P450 ENZYMES | ANTICONVULSANT DRUGS | D-RESPONSIVE ELEMENTS | VITAMIN-D-RECEPTOR | 24-HYDROXYLASE GENE | HUMAN-IMMUNODEFICIENCY-VIRUS | CYP3A4 EXPRESSION | PROTEASE INHIBITORS | Transcriptional Activation - genetics | Receptors, Steroid - metabolism | Humans | Molecular Sequence Data | Hepatocytes - metabolism | RNA, Messenger - metabolism | Receptors, Steroid - agonists | Vitamin D Response Element - genetics | Promoter Regions, Genetic - genetics | Osteomalacia - chemically induced | Steroid Hydroxylases - blood | Osteomalacia - metabolism | Steroid Hydroxylases - genetics | Hepatocytes - drug effects | Cytochrome P-450 Enzyme System - blood | Steroid Hydroxylases - chemistry | RNA, Messenger - genetics | Cells, Cultured | Vitamin D3 24-Hydroxylase | Receptors, Cytoplasmic and Nuclear - agonists | Mutation - genetics | Osteomalacia - genetics | Gene Expression Regulation - drug effects | Cytochrome P-450 Enzyme System - chemistry | Animals | Cytochrome P-450 Enzyme System - biosynthesis | Cytochrome P-450 Enzyme System - genetics | Mice | Rifampin - pharmacology | Steroid Hydroxylases - biosynthesis | Receptors, Cytoplasmic and Nuclear - metabolism | Life Sciences | Human health and pathology | Endocrinology and metabolism | Hépatology and Gastroenterology
Journal Article