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humans (98) 98
index medicus (81) 81
female (51) 51
hajdu-cheney syndrome (50) 50
male (46) 46
hajdu-cheney syndrome - genetics (42) 42
mutation (42) 42
hajdu-cheney-syndrome (37) 37
genetics & heredity (33) 33
osteoporosis (33) 33
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acroosteolysis (29) 29
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acro-osteolysis (22) 22
disorder (20) 20
radiography (20) 20
child, preschool (18) 18
endocrinology & metabolism (18) 18
genetic aspects (17) 17
bone (16) 16
osteolysis (16) 16
article (15) 15
polycystic kidney syndrome (15) 15
adolescent (14) 14
hajdu-cheney syndrome - diagnostic imaging (14) 14
hajdu-cheney syndrome - pathology (14) 14
mice (14) 14
mutations (14) 14
truncating mutations (14) 14
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hajdu-cheney syndrome - diagnosis (13) 13
hajdu–cheney syndrome (13) 13
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analysis (12) 12
hajdu-cheney syndrome - complications (12) 12
orthopedics (12) 12
phenotype (12) 12
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care and treatment (11) 11
hajdu‐cheney syndrome (11) 11
notch2 cause (11) 11
pediatrics (11) 11
hajdu-cheney syndrome - physiopathology (10) 10
melnick-needles syndrome (10) 10
pedigree (10) 10
somatotropin (10) 10
alagille-syndrome (9) 9
biochemistry & molecular biology (9) 9
bone density (9) 9
bones (9) 9
diagnosis (9) 9
exons (9) 9
hajdu-cheney syndrome - metabolism (9) 9
notch (9) 9
receptor, notch2 - metabolism (9) 9
receptors, notch - genetics (9) 9
rheumatology (9) 9
risk factors (9) 9
signal transduction (9) 9
signaling pathway (9) 9
abnormalities, multiple - genetics (8) 8
alagille syndrome (8) 8
arthritis (8) 8
diagnosis, differential (8) 8
disease (8) 8
dna mutational analysis (8) 8
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genetic disorders (8) 8
hajdu-cheney syndrome - drug therapy (8) 8
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osteoclastogenesis (7) 7
osteoporosis - genetics (7) 7
polycystic kidney (7) 7
serpentine fibula (7) 7
base sequence (6) 6
bone density conservation agents - therapeutic use (6) 6
bone remodeling (6) 6
cell biology (6) 6
dentistry, oral surgery & medicine (6) 6
exome (6) 6
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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
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or... 
Development | Genetics | CADASIL | Adams-Oliver syndrome | Alagille | Notch | JAGGED1 JAG1 MUTATIONS | HOMOZYGOUS CADASIL PATIENT | INTRAHEPATIC BILE-DUCTS | MATCHED HETEROZYGOUS PATIENTS | POLYCYSTIC KIDNEY SYNDROME | DEVELOPMENTAL BIOLOGY | OF-FUNCTION MUTATIONS | HAJDU-CHENEY-SYNDROME | PROMOTES VASCULAR MATURATION | AUTOSOMAL-DOMINANT ARTERIOPATHY | ADAMS-OLIVER-SYNDROME | 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 | Developmental Biology | Meningocele - genetics | Scalp Dermatoses - congenital | Abnormalities, Multiple - genetics | Fibula | Congenital diseases | Alagille syndrome | Polycystic kidney | Ligands | Dysostosis | Meninges | Genomes | Notch protein | Mutation
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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
We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder... 
GENETICS & HEREDITY | 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
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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 and Developmental Biology, ISSN 1084-9521, 06/2012, Volume 23, Issue 4, pp. 450 - 457
► Mutations in Notch signaling genes cause several human developmental disorders. ► Liver, heart, skeleton, kidney and vascular systems are significantly... 
Spondylocostal dysostosis | Hajdu Cheney | Alagille syndrome | Notch signaling | Cardiac disease | BILE-DUCT PROLIFERATION | ARTERIOHEPATIC DYSPLASIA | DEVELOPMENTAL BIOLOGY | LUNATIC-FRINGE | CARDIAC DEVELOPMENT | MISSENSE MUTATIONS | CELL BIOLOGY | CAUSES SPONDYLOCOSTAL DYSOSTOSIS | ABNORMAL VERTEBRAL SEGMENTATION | ALAGILLE-SYNDROME | GENE | AXIAL SKELETAL DEFECTS | 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
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4. Full Text Notch and disease: A growing field
by Louvi, Angeliki and Artavanis-Tsakonas, Spyros
Seminars in Cell and Developmental Biology, ISSN 1084-9521, 06/2012, Volume 23, Issue 4, pp. 473 - 480
Signals through the Notch receptors are used throughout development to control cellular fate choices. Our intention here is to provide an overview of the... 
Pleiotropy | CADASIL | Dominant syndrome | Notch | SUBCORTICAL INFARCTS | POLYCYSTIC KIDNEY SYNDROME | DEVELOPMENTAL BIOLOGY | OF-FUNCTION MUTATIONS | CELL BIOLOGY | CAUSES SPONDYLOCOSTAL DYSOSTOSIS | HAJDU-CHENEY-SYNDROME | ABNORMAL VERTEBRAL SEGMENTATION | ALAGILLE-SYNDROME | SIGNALING PATHWAY | AUTOSOMAL-DOMINANT ARTERIOPATHY | SMOOTH-MUSCLE-CELLS | Cardiovascular Diseases - metabolism | Receptors, Notch - metabolism | Humans | Alagille Syndrome - metabolism | Receptors, Notch - physiology | Receptors, Notch - genetics | Genetic Pleiotropy | Signal Transduction - genetics | Cardiovascular Diseases - genetics | CADASIL - genetics | Bone Diseases, Metabolic - metabolism | Alagille Syndrome - genetics | Animals | Neoplasms - genetics | CADASIL - metabolism | Bone Diseases, Metabolic - genetics | Mutation | Oncogenes | Multiple sclerosis | Epidermal growth factor | Proteolysis | Growth | Analysis | Leukemia | Stem cells | Genetics | T cells
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5. Full Text NOTCH2 mutations in Alagille syndrome
by Kamath, Binita Maya and Bauer, Robert C and Loomes, Kathleen M and Chao, Grace and Gerfen, Jennifer and Hutchinson, Anne and Hardikar, Winita and Hirschfield, Gideon and Jara, Paloma and Krantz, Ian D and Lapunzina, Pablo and Leonard, Laura and Ling, Simon and Ng, Vicky Lee and Hoang, Phuc Le and Piccoli, David A and Spinner, Nancy Bettina
Journal of Medical Genetics, ISSN 0022-2593, 02/2012, Volume 49, Issue 2, pp. 138 - 144
BackgroundAlagille syndrome (ALGS) is a dominant, multisystem disorder caused by mutations in the Jagged1 (JAG1) ligand in 94% of patients, and in the NOTCH2... 
VASCULAR ANOMALIES | JAG1 MUTATIONS | HAJDU-CHENEY-SYNDROME | MORBIDITY | ARTERIOHEPATIC DYSPLASIA | DISEASE | GENETICS & HEREDITY | DISORDER | POLYCYSTIC KIDNEY SYNDROME | HYPERTENSION | HUMAN JAGGED1 | Cell Line | Gene Expression | Genetic Association Studies | Signal Transduction | Humans | Receptor, Notch2 - metabolism | Receptor, Notch2 - genetics | Alagille Syndrome - genetics | Phenotype | Animals | DNA Mutational Analysis | Facies | HEK293 Cells | Mice | Mutation
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6. 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, John A and Martignetti, Chiara R and Camacho, Catalina and Grum-Tokars, Valerie and Glucksman, Marc J
The American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, pp. 572 - 576
The “vanishing bone” syndromes represent a group of rare skeletal disorders characterized by osteolysis and joint destruction, which can mimic severe... 
MATRIX | MICE | SKELETAL | SIGNAL PEPTIDE | GENETICS & HEREDITY | 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 | Report
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7. Full Text Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
by Isidor, Bertrand and Lindenbaum, Pierre and Pichon, Olivier and Bézieau, Stéphane and Dina, Christian and Jacquemont, Sébastien and Martin-Coignard, Dominique and Thauvin-Robinet, Christel and Le Merrer, Martine and Mandel, Jean-Louis and David, Albert and Faivre, Laurence and Cormier-Daire, Valérie and Redon, Richard and Le Caignec, Cédric
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 4, pp. 306 - 308
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six... 
OSTEOBLAST DIFFERENTIATION | ALAGILLE-SYNDROME | SIGNALING PATHWAY | GENETICS & HEREDITY | Rare Diseases - genetics | Frameshift Mutation | Exons | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Young Adult | Base Sequence | Adult | Female | Rare Diseases - pathology | Rare Diseases - metabolism | Amino Acid Sequence | Signal Transduction | Receptor, Notch2 - metabolism | Codon, Nonsense | DNA - genetics | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Pedigree | Adolescent | Heterozygote | Mutation | Somatotropin | Osteoporosis | Care and treatment | Physiological aspects | Congenital heart disease | Genetic aspects | Research | Risk factors | Proteins | Genetics | Bone density
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8. Full Text Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome
by Majewski, Jacek and Schwartzentruber, Jeremy A and Caqueret, Aurore and Patry, Lysanne and Marcadier, Janet and Fryns, Jean‐Pierre and Boycott, Kym M and Ste‐Marie, Louis‐Georges and McKiernan, Fergus E and Marik, Ivo and Van Esch, Hilde and Michaud, Jacques L and Samuels, Mark E and FORGE Canada Consortium
Human Mutation, ISSN 1059-7794, 10/2011, Volume 32, Issue 10, pp. 1114 - 1117
Hajdu‐Cheney syndrome (HCS) is a rare genetic disorder whose hallmark is acro‐osteolysis, shortening of terminal phalanges, and generalized osteoporosis. We... 
NOTCH2 | acro‐osteolysis | osteoporosis | Hajdu‐Cheney Syndrome | Osteoporosis | Acro-osteolysis | Hajdu-Cheney Syndrome | ALAGILLE-SYNDROME | SIGNALING PATHWAY | acro-osteolysis | GENETICS & HEREDITY | DISORDER | CELL | Hand Deformities, Congenital - diagnostic imaging | Face - abnormalities | Humans | Family Health | Male | Receptor, Notch2 - genetics | Acro-Osteolysis - genetics | Hand | Exome | Radiography | Hajdu-Cheney Syndrome - genetics | Pedigree | Female | Mutation | Acro-Osteolysis - diagnostic imaging | Signal transduction | Alagille syndrome | Finger | Notch protein | Bone turnover
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9. 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
The Hajdu–Cheney syndrome is a very rare disease that affects several organ system, leading to severe osteoporosis and other abnormalities. We describe... 
NOTCH2 | Osteoporosis | Medicine & Public Health | Orthopedics | Rheumatology | Exome sequencing | Acroosteolysis | Hajdu–Cheney syndrome | Endocrinology | Hajdu-Cheney syndrome | ACTIVATION | ENDOCRINOLOGY & METABOLISM | DISORDER | 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
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10. 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, p. 200
Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specific craniofacial features,... 
MEDICINE, RESEARCH & EXPERIMENTAL | Polycystic kidneys | OSTEOBLAST DIFFERENTIATION | Notch | NOTCH PATHWAY | GLUCOCORTICOID-INDUCED OSTEOPOROSIS | BONE MORPHOGENETIC PROTEINS | POLYCYSTIC KIDNEY SYNDROME | Bone remodeling | CHONDROCYTE DIFFERENTIATION | Hajdu-Cheney syndrome | Fractures | ACRO-OSTEOLYSIS | B cell lymphoma | GENETICS & HEREDITY | Skeleton | TRANSCRIPTION COMPLEXES | MARGINAL ZONE LYMPHOMA | TRUNCATING MUTATIONS | 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 | Osteoporosis | Acrocallosal syndrome | Care and treatment | Diagnosis | Patient outcomes | Risk factors | Proteins | Kidney diseases | Health aspects | Analysis | Epidermal growth factor | Kidneys | Disease | Homeostasis | Lymphomas | Mutation | Defects
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11. Full Text Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders
by Canalis, Ernesto
Metabolism, ISSN 0026-0495, 03/2018, Volume 80, pp. 48 - 56
There are four Notch transmembrane receptors that determine the fate and function of cells. Notch is activated following its interactions with ligands of the... 
Hajdu Cheney Syndrome | Osteoporosis | Genetic disorders | Acroosteolysis | Notch | B1B CELLS | LAST EXON | ACTIVATION | ZONE B-CELLS | POLYCYSTIC KIDNEY SYNDROME | LATERAL MENINGOCELE SYNDROME | PATHWAY | ENDOCRINOLOGY & METABOLISM | EXPRESSION | TRUNCATING MUTATIONS | Hajdu-Cheney Syndrome - genetics | Animals | Humans | Receptor, Notch2 - genetics | Receptors, Notch - genetics | Signal Transduction - genetics | Hajdu-Cheney Syndrome - physiopathology | osteoporosis | genetic disorders | acroosteolysis
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12. 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, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 122 - 124
Serpentine fibula polycystic kidney syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional... 
Melnick Needles syndrome | NOTCH2 | Hajdu-Cheney syndrome | serpentine fibula polycystic kidney syndrome | ENTITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | NOTCH2 CAUSE | DISORDER | MUTATIONS | MELNICK-NEEDLES SYNDROME | VARIANT | 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 | Kidneys | Polycystic kidney | Hearing impairment | Medicine | Genotype & phenotype | Osteoporosis | Classification | Bone dysplasia | Genetics | Evolution | Needles | Skeleton | Kidney diseases | Evolution & development | Age | Deoxyribonucleic acid--DNA | Siblings | Short Report | Hajdu–Cheney syndrome
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