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life sciences & biomedicine (87) 87
science & technology (87) 87
humans (83) 83
female (50) 50
hajdu-cheney syndrome - genetics (48) 48
male (48) 48
hajdu-cheney syndrome (47) 47
mutation (40) 40
receptor, notch2 - genetics (34) 34
osteoporosis (31) 31
biological and medical sciences (26) 26
child (26) 26
genetics & heredity (25) 25
medical sciences (25) 25
adult (24) 24
notch2 (21) 21
animals (20) 20
child, preschool (19) 19
hajdu-cheney syndrome - pathology (19) 19
radiography (19) 19
endocrinology & metabolism (16) 16
genetic aspects (16) 16
hajdu-cheney syndrome - complications (16) 16
acroosteolysis (15) 15
hajdu-cheney syndrome - diagnostic imaging (15) 15
acro-osteolysis (14) 14
adolescent (14) 14
hajdu-cheney syndrome - diagnosis (14) 14
diseases of the osteoarticular system (13) 13
hajdu–cheney syndrome (13) 13
mice (13) 13
osteolysis (13) 13
hajdu-cheney syndrome - metabolism (12) 12
medical genetics (12) 12
orthopedics (12) 12
somatotropin (12) 12
hajdu‐cheney syndrome (11) 11
medicine & public health (11) 11
exons (10) 10
hajdu-cheney syndrome - physiopathology (10) 10
pedigree (10) 10
phenotype (10) 10
research (10) 10
analysis (9) 9
bone density (9) 9
fundamental and applied biological sciences. psychology (9) 9
hajdu-cheney syndrome - drug therapy (9) 9
pediatrics (9) 9
receptor, notch2 - metabolism (9) 9
rheumatology (9) 9
syndrome (9) 9
young adult (9) 9
abridged index medicus (8) 8
care and treatment (8) 8
health aspects (8) 8
receptors, notch - genetics (8) 8
signal transduction (8) 8
biochemistry & molecular biology (7) 7
bone (7) 7
bone remodeling (7) 7
bones (7) 7
diagnosis, differential (7) 7
dna mutational analysis (7) 7
genetics (7) 7
hajdu cheney syndrome (7) 7
middle aged (7) 7
osteoporosis - genetics (7) 7
skeleton (7) 7
abnormalities, multiple - genetics (6) 6
alagille syndrome (6) 6
base sequence (6) 6
complex syndromes (6) 6
dentistry (6) 6
endocrine system (6) 6
fractures (6) 6
general & internal medicine (6) 6
genetics of eukaryotes. biological and molecular evolution (6) 6
heterozygote (6) 6
infant, newborn (6) 6
magnetic resonance imaging (6) 6
medicine (6) 6
medicine, general & internal (6) 6
medicine, research & experimental (6) 6
notch (6) 6
osteoclasts - metabolism (6) 6
osteogenesis (6) 6
patients (6) 6
proteins (6) 6
research & experimental medicine (6) 6
treatment outcome (6) 6
age (5) 5
bone density conservation agents - therapeutic use (5) 5
cells, cultured (5) 5
children (5) 5
dentistry, oral surgery & medicine (5) 5
diagnosis (5) 5
facies (5) 5
gene mutations (5) 5
genetic disorders (5) 5
hajdu-cheney syndrome - immunology (5) 5
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1. Full Text The developmental biology of genetic notch disorders
by Mašek, Jan and Andersson, Emma R
Development (Cambridge), ISSN 0950-1991, 05/2017, Volume 144, Issue 10, pp. 1743 - 1763
Development | Genetics | CADASIL | Adams-Oliver syndrome | Alagille | Notch | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Limb Deformities, Congenital - genetics | Genetic Diseases, Inborn - embryology | Ectodermal Dysplasia - embryology | Humans | Genetic Diseases, Inborn - genetics | Hernia, Diaphragmatic - embryology | Hernia, Diaphragmatic - genetics | Receptors, Notch - genetics | Limb Deformities, Congenital - embryology | Hajdu-Cheney Syndrome - embryology | Meningocele - embryology | Scalp Dermatoses - embryology | Abnormalities, Multiple - embryology | Alagille Syndrome - embryology | Hajdu-Cheney Syndrome - genetics | Alagille Syndrome - genetics | Animals | Ectodermal Dysplasia - genetics | Scalp Dermatoses - genetics | Meningocele - genetics | Scalp Dermatoses - congenital | Abnormalities, Multiple - genetics | Fibula | Congenital diseases | Alagille syndrome | Polycystic kidney | Developmental biology | Ligands | Dysostosis | Meninges | Genomes | Notch protein | Mutation | Index Medicus | Medicin och hälsovetenskap
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2. Full Text Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
by Simpson, Michael A and Irving, Melita D and Asilmaz, Esra and Gray, Mary J and Dafou, Dimitra and Elmslie, Frances V and Mansour, Sahar and Holder, Sue E and Brain, Caroline E and Burton, Barbara K and Kim, Katherine H and Pauli, Richard M and Aftimos, Salim and Stewart, Helen and Kim, Chong Ae and Holder-Espinasse, Muriel and Robertson, Stephen P and Drake, William M and Trembath, Richard C
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 4, pp. 303 - 305
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Osteoporosis. Osteomalacia. Paget disease | Complex syndromes | Diseases of the osteoarticular system | Medical genetics | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Exons | Humans | DNA, Complementary - genetics | Mutant Proteins - genetics | Receptor, Notch2 - metabolism | Male | Mutant Proteins - metabolism | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Protein Sorting Signals - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Alleles | Female | Mutation | Osteoporosis | Somatotropin | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Osteolysis | Health aspects | Risk factors | Studies | Medical research | Bone density | Genes | Index Medicus
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3. Full Text Notch signaling in human development and disease
by Penton, Andrea L and Leonard, Laura D and Spinner, Nancy B
Seminars in cell & developmental biology, ISSN 1084-9521, 06/2012, Volume 23, Issue 4, pp. 450 - 457
Spondylocostal dysostosis | Hajdu Cheney | Alagille syndrome | Notch signaling | Cardiac disease | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Cell Biology | Abnormalities, Multiple - metabolism | Heart Diseases - metabolism | Signal Transduction | Membrane Proteins - genetics | Receptors, Notch - metabolism | Humans | Intercellular Signaling Peptides and Proteins - genetics | Alagille Syndrome - metabolism | Hernia, Diaphragmatic - genetics | Receptors, Notch - physiology | Receptors, Notch - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Heart Defects, Congenital - genetics | Alagille Syndrome - genetics | Animals | Serrate-Jagged Proteins | Heart Defects, Congenital - metabolism | Mutation | Abnormalities, Multiple - genetics | Heart Diseases - genetics | Hernia, Diaphragmatic - metabolism | Calcium-Binding Proteins - genetics | Jagged-1 Protein | Index Medicus
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4. Full Text Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
by Gray, Mary J and Kim, Chong Ae and Bertola, Debora Romeo and Arantes, Paula Ricci and Stewart, Helen and Simpson, Michael A and Irving, Melita D and Robertson, Stephen P
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 122 - 124
Melnick Needles syndrome | NOTCH2 | Hajdu-Cheney syndrome | serpentine fibula polycystic kidney syndrome | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Kidneys | Medical genetics | Nephrology. Urinary tract diseases | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Malformations of the urinary system | Rare Diseases - genetics | Genetic Testing | Neck - diagnostic imaging | Exons | Humans | Receptor, Notch2 - genetics | Hand - diagnostic imaging | Radiography | Hajdu-Cheney Syndrome - genetics | Magnetic Resonance Imaging | Phenotype | Adolescent | Ultrasonography | Hajdu-Cheney Syndrome - diagnostic imaging | Head - diagnostic imaging | Female | Heterozygote | Mutation | Child | Fibula | Dysplasia | Polycystic kidney | Hearing impairment | Medicine | Genotype & phenotype | Osteoporosis | Classification | Bone dysplasia | Genetics | Evolution | Needles | Skeleton | Kidney diseases | Evolution & development | Age | Deoxyribonucleic acid--DNA | Siblings | Index Medicus | Short Report | Hajdu–Cheney syndrome
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5. Full Text Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester Syndrome
by Evans, Brad R and Mosig, Rebecca A and Lobl, Mollie and Martignetti, Chiara R and Camacho, Catalina and Grum-Tokars, Valerie and Glucksman, Marc J and Martignetti, John A
American journal of human genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, pp. 572 - 576
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Miscellaneous. Osteoarticular involvement in other diseases | Diseases of the osteoarticular system | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Osteolysis - genetics | Humans | Models, Molecular | Abnormalities, Multiple - diagnostic imaging | Arthritis - genetics | Contracture - genetics | Corneal Opacity - genetics | Corneal Opacity - diagnostic imaging | Radiography | Contracture - diagnostic imaging | Hajdu-Cheney Syndrome - genetics | Osteolysis - diagnostic imaging | Osteoporosis - diagnostic imaging | Growth Disorders - diagnostic imaging | Matrix Metalloproteinase 14 - genetics | Female | Osteoporosis - genetics | Mutation | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Gene mutations | Genetic susceptibility | Growth | Causes of | Bones | Arthritis | Genetic aspects | Research | Osteolysis | Musculoskeletal diseases | Proteins | Signal transduction | Membranes | Peptides | Index Medicus | Report
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6. Full Text Hajdu-Cheney syndrome: a review
by Canalis, Ernesto and Zanotti, Stefano
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 200 - 200
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Hajdu-Cheney Syndrome - genetics | Diagnosis, Differential | Osteoporosis - therapy | Humans | Osteoporosis - diagnosis | Bone Density Conservation Agents - therapeutic use | Osteoporosis - genetics | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - diagnosis | Mutation - genetics | Hajdu-Cheney Syndrome - therapy | Proteins | Kidney diseases | Diagnosis | Health aspects | Analysis | Epidermal growth factor | Fractures | Kidneys | Disease | Homeostasis | Mutation | Lymphoma | Defects | Index Medicus
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7. Full Text Mutations in NOTCH2 in patients with Hajdu–Cheney syndrome
by Zhao, W and Petit, E and Gafni, R I and Collins, M T and Robey, P G and Seton, M and Miller, K K and Mannstadt, M
Osteoporosis international, ISSN 0937-941X, 8/2013, Volume 24, Issue 8, pp. 2275 - 2281
NOTCH2 | Osteoporosis | Medicine & Public Health | Orthopedics | Rheumatology | Exome sequencing | Acroosteolysis | Hajdu–Cheney syndrome | Endocrinology | Hajdu-Cheney syndrome | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Humans | Middle Aged | Finger Phalanges - diagnostic imaging | Male | Receptor, Notch2 - genetics | Radiography | Young Adult | Finger Phalanges - pathology | Hajdu-Cheney Syndrome - genetics | Exome - genetics | Hajdu-Cheney Syndrome - pathology | Pedigree | Adolescent | Hajdu-Cheney Syndrome - diagnostic imaging | Adult | Female | Heterozygote | Osteoporosis - genetics | Mutation | Sequence Analysis, DNA - methods | Finger Phalanges - abnormalities | Complications and side effects | Genetic disorders | Physiological aspects | Cellular signal transduction | Genetic aspects | Research | Risk factors | Patients | Index Medicus
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8. Full Text Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders
by Canalis, Ernesto
Metabolism, clinical and experimental, ISSN 0026-0495, 03/2018, Volume 80, pp. 48 - 56
Hajdu Cheney Syndrome | Osteoporosis | Genetic disorders | Acroosteolysis | Notch | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Hajdu-Cheney Syndrome - genetics | Animals | Humans | Receptor, Notch2 - genetics | Receptors, Notch - genetics | Signal Transduction - genetics | Hajdu-Cheney Syndrome - physiopathology | Somatotropin | Medical research | Medicine, Experimental | Lymphomas | Mice | Genetic transcription | Index Medicus | osteoporosis | genetic disorders | acroosteolysis
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