Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (7507) 7507
Book / eBook (1166) 1166
Publication (701) 701
Book Chapter (186) 186
Book Review (170) 170
Newsletter (106) 106
Dissertation (97) 97
Newspaper Article (41) 41
Magazine Article (23) 23
Conference Proceeding (22) 22
Reference (12) 12
Web Resource (5) 5
Government Document (3) 3
Journal / eJournal (1) 1
Paper (1) 1
Presentation (1) 1
Trade Publication Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (6606) 6606
index medicus (3440) 3440
female (3397) 3397
male (3101) 3101
genetics & heredity (2064) 2064
pediatrics (1973) 1973
child (1738) 1738
adult (1637) 1637
genetics (1488) 1488
mutation (1425) 1425
medicine & public health (1316) 1316
endocrinology & metabolism (1309) 1309
child, preschool (1293) 1293
infant (1269) 1269
infant, newborn (1251) 1251
genetic aspects (1218) 1218
human genetics (1197) 1197
adolescent (1194) 1194
internal medicine (1091) 1091
animals (1058) 1058
medicine, research & experimental (912) 912
metabolic diseases (877) 877
diagnosis (860) 860
pregnancy (845) 845
genetic disorders (829) 829
biochemistry, general (814) 814
research (776) 776
children (771) 771
middle aged (705) 705
phenotype (705) 705
analysis (703) 703
disease (643) 643
risk factors (643) 643
mutations (590) 590
health aspects (587) 587
metabolism (573) 573
medicine (566) 566
enzymes (535) 535
care and treatment (516) 516
genetic diseases, inborn - genetics (491) 491
physiological aspects (490) 490
pedigree (474) 474
metabolism, inborn errors - complications (471) 471
medical genetics (452) 452
young adult (451) 451
clinical neurology (442) 442
gene (438) 438
genetic diseases, inborn (434) 434
article (425) 425
diseases (419) 419
genes (419) 419
metabolism, inborn errors - genetics (412) 412
genotype (401) 401
mice (399) 399
infants (392) 392
treatment outcome (389) 389
genetic diseases, inborn - diagnosis (387) 387
genetic predisposition to disease (364) 364
deficiency (360) 360
genetics, medical (360) 360
transplantation (350) 350
immunology (348) 348
biochemistry & molecular biology (346) 346
diagnosis, differential (338) 338
genetic diseases, inborn - complications (336) 336
aged (335) 335
medical research (329) 329
retrospective studies (323) 323
syndrome (317) 317
dna mutational analysis (304) 304
genetic counseling (303) 303
genetic research (302) 302
genetic testing (302) 302
prenatal diagnosis (300) 300
patients (290) 290
neurosciences (276) 276
magnetic resonance imaging (275) 275
heterozygote (273) 273
metabolism, inborn errors - diagnosis (272) 272
neurology (272) 272
gene mutations (267) 267
proteins (266) 266
medicine, general & internal (261) 261
disorders (260) 260
management (257) 257
medicine, experimental (257) 257
liver (255) 255
therapy (254) 254
gene therapy (247) 247
hematology (246) 246
molecular biology (233) 233
prevalence (230) 230
cell biology (228) 228
complications and side effects (226) 226
risk (226) 226
identification (221) 221
medical colleges (221) 221
follow-up studies (220) 220
amino acid metabolism, inborn errors - genetics (219) 219
prognosis (218) 218
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (764) 764
UofT at Mississauga - Stacks (194) 194
UTL at Downsview - May be requested (192) 192
Robarts - Stacks (130) 130
UofT at Scarborough - Stacks (108) 108
OISE - Stacks (55) 55
St. Michael's College (John M. Kelly) - 2nd Floor (53) 53
Collection Dvlpm't (Acquisitions) - Closed Orders (52) 52
Collection Dvlpm't (Acquisitions) - Vendor file (48) 48
Online Resources - Online (38) 38
Victoria University E.J. Pratt - Stacks (36) 36
St. Augustine's Seminary - Stacks (23) 23
Trinity College (John W Graham) - Stacks (22) 22
Earth Sciences (Noranda) - Stacks (17) 17
Law (Bora Laskin) - Stacks (16) 16
Engineering & Comp. Sci. - Stacks (13) 13
Holland Bloorview Kids Rehabilitation - Stacks (12) 12
Royal Ontario Museum - Stacks (12) 12
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (12) 12
Regis College - Stacks (10) 10
UofT at Scarborough - Withdrawn (9) 9
St. Michael's College (John M. Kelly) - 3rd Floor (8) 8
Gerstein Science - Reference (7) 7
New College (Ivey) - Stacks (7) 7
Knox College (Caven) - Stacks (6) 6
Lakeridge Health Sciences - Oshawa (6) 6
Trinity College (John W Graham) - Storage (6) 6
Victoria University Emmanuel College - Stacks (6) 6
Thomas Fisher Rare Book - Rare Book (5) 5
Baycrest Hospital - Stacks (4) 4
Criminology - Stacks (4) 4
Dentistry (Harry R Abbott) - Stacks (4) 4
Gerstein Science - Circulation Desk (4) 4
Scarborough Hospital - General (4) 4
St. Michael's Hospital - Stacks (4) 4
UofT at Scarborough - May be requested in 6-10 wks (4) 4
Dentistry (Harry R Abbott) - May be requested in 6-10 wks (3) 3
Dentistry (Harry R Abbott) - Withdrawn (3) 3
Gerstein Science - Missing (3) 3
Institute for Christian Studies - Stacks (3) 3
Mt Sinai Hospital - Pathology (3) 3
Providence Healthcare - Stacks (3) 3
Scarborough Hospital - Birchmount (3) 3
UofT at Mississauga - Not Returned (3) 3
UofT at Mississauga - Reference (3) 3
Earth Sciences (Noranda) - Missing (2) 2
Gerstein Science - Searching (2) 2
Holland Bloorview Kids Rehabilitation - Reference (2) 2
Humber River Regional Hospital - Finch Stacks (2) 2
OISE - May be requested in 6-10 wks (2) 2
Physics - Stacks (2) 2
Robarts - Storage (2) 2
Toronto East General Hospital - Stacks (2) 2
Trinity College (John W Graham) - Wycliffe Storage (2) 2
UofT at Mississauga - May be requested in 6-10 wks (2) 2
Chemistry (A D Allen) - Stacks (1) 1
Collection Dvlpm't (Acquisitions) - Online (1) 1
Collection Dvlpm't (Acquisitions) - Stacks (1) 1
Credit Valley Hospital - Missing (1) 1
Credit Valley Hospital - Stacks (1) 1
Earth Sciences (Noranda) - May be requested (1) 1
Engineering & Comp. Sci. - Reference (1) 1
Gerstein Science - Periodical Stacks (1) 1
Humber River Regional Hospital - Church Stacks (1) 1
Law (Bora Laskin) - Reserve desk (1) 1
Markham Stouffville Hospital - Stacks (1) 1
New College (Ivey) - Withdrawn (1) 1
OISE - Curriculum Resources (1) 1
OISE - Missing (1) 1
Physics - Missing (1) 1
Pontifical Inst. Mediaeval Studies - Library use only (1) 1
Providence Healthcare - Reference (1) 1
Providence Healthcare - Reserve desk (1) 1
Regis College - Reference (1) 1
Robarts - Protected Material (1) 1
Scarborough Hospital - Online (1) 1
St Josephs Health Centre - Stacks (1) 1
St. Augustine's Seminary - Reference (1) 1
St. Michael's College (John M. Kelly) - Reference (1) 1
St. Michael's Hospital - Circulation Desk (1) 1
Trinity College (John W Graham) - Reference (1) 1
University College (Laidlaw) - Stacks (1) 1
UofT at Mississauga - Closed Orders (1) 1
UofT at Mississauga - Missing (1) 1
UofT at Mississauga - Not returned (1) 1
UofT at Scarborough - Material is damaged (1) 1
UofT at Scarborough - May be requested (1) 1
UofT at Scarborough - Sunnybrook Stacks (1) 1
Victoria University CRRS - Library use only (1) 1
Victoria University E.J. Pratt - Reference (1) 1
Victoria University E.J. Pratt - Storage (1) 1
Victoria University Emmanuel College - Reference (1) 1
Women's College Hospital - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (8805) 8805
French (117) 117
Spanish (74) 74
German (66) 66
Japanese (24) 24
Russian (23) 23
Italian (20) 20
Dutch (12) 12
Portuguese (8) 8
Chinese (7) 7
Czech (6) 6
Hungarian (6) 6
Polish (6) 6
Turkish (6) 6
Danish (4) 4
Swedish (4) 4
Arabic (3) 3
Finnish (3) 3
Romanian (2) 2
Bulgarian (1) 1
Slovak (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study
by Alter, Blanche P and Giri, Neelam and Savage, Sharon A and Peters, June A and Loud, Jennifer T and Leathwood, Lisa and Carr, Ann G and Greene, Mark H and Rosenberg, Philip S
British Journal of Haematology, ISSN 0007-1048, 07/2010, Volume 150, Issue 2, pp. 179 - 188
Summary Fanconi anaemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anaemia (DBA), and Shwachman-Diamond syndrome (SDS) comprise major inherited bone... 
bone marrow failure | Fanconi anaemia | leukaemia | dyskeratosis congenita | solid tumours | HEAD | FANCONI-ANEMIA | DYSKERATOSIS-CONGENITA | DIAMOND-BLACKFAN ANEMIA | MUTATIONS | HEMATOLOGY | TELOMERE LENGTH | REGISTRY | Age Distribution | Neoplasms - etiology | Prognosis | Humans | Middle Aged | Genetic Diseases, Inborn - genetics | Child, Preschool | Male | Dyskeratosis Congenita - genetics | Young Adult | Dyskeratosis Congenita - complications | Neoplasms - genetics | Genetic Diseases, Inborn - complications | Adult | Female | Fanconi Anemia - genetics | Anemia, Diamond-Blackfan - complications | Child | Bone Marrow Diseases - complications | Fanconi Anemia - complications | Genetic Predisposition to Disease | Genotype | Bone Marrow Diseases - genetics | Syndrome | Anemia, Diamond-Blackfan - genetics | Epidemiologic Methods | Adolescent | Oncology, Experimental | Analysis | Leukemia | Stem cells | Genetic aspects | Transplantation | Research | Fanconi's anemia | Cancer
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Diagnosis and classification of diabetes mellitus
by and Amer Diabet Assoc and American Diabetes Association
Diabetes Care, ISSN 0149-5992, 01/2012, Volume 35, Issue 1, pp. S64 - S71
The severity of the metabolic abnormality can progress, regress, or stay the same. [...] the degree of hyperglycemia reflects the severity of the underlying... 
HEMOGLOBIN A1C | WOMEN | PREGNANCY OUTCOMES | EXPERT COMMITTEE | ENDOCRINOLOGY & METABOLISM | Autoimmunity | Diabetes, Gestational - metabolism | Diabetes Mellitus - genetics | Diabetes Mellitus - classification | Glycated Hemoglobin A - metabolism | Humans | Diabetes Mellitus, Type 1 - metabolism | Male | Diabetes Mellitus, Type 2 - metabolism | Insulin-Secreting Cells - metabolism | Genetic Diseases, Inborn - complications | Female | Diabetes Mellitus - diagnosis | Diabetes Mellitus, Type 1 - immunology | Insulin - genetics | Insulin Secretion | Diabetes, Gestational - diagnosis | Glucose Tolerance Test | Risk Factors | Insulin Resistance | Diabetes Mellitus - metabolism | Pancreatic Diseases - complications | Pregnancy | Diabetes Mellitus, Type 1 - diagnosis | Diabetes Mellitus, Type 2 - diagnosis | Insulin - metabolism | Diabetes Mellitus - immunology | Insulin - deficiency | Diabetes Mellitus - chemically induced | Endocrine System Diseases - complications | Hyperglycemia | Analysis | Physiological aspects | Development and progression | Carbohydrate metabolism | Diabetes | Insulin | Womens health | Metabolic disorders | Position Statement
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. An A-Z of genetic factors in autism
: a handbook for professionals
by Aitken, Kenneth J
2010, ISBN 9781843109761, 542
Book
Details down arrow
4. Full Text Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis
by Richards, Caroline, Dr and Jones, Christopher, Clin PsyD and Groves, Laura, BSc and Moss, Jo, PhD and Oliver, Chris, Prof
Lancet Psychiatry, The, ISSN 2215-0366, 2015, Volume 2, Issue 10, pp. 909 - 916
Summary Background Autism spectrum disorder (ASD) phenomenology is reported to be more common in individuals with some genetic syndromes than in the general... 
Psychiatry | PSYCHIATRY | LANGE | CORNELIA | Prevalence | Autism Spectrum Disorder - epidemiology | Humans | Genetic Diseases, Inborn - complications | Female | Male | Risk | Genetic Diseases, Inborn - epidemiology | Autism Spectrum Disorder - etiology | Genetic Diseases, Inborn - diagnosis | Autism Spectrum Disorder - diagnosis
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Ca(v)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
by Splawski, I and Timothy, KW and Sharpe, LM and Decher, N and Kumar, P and Bloise, R and Napolitano, C and Schwartz, PJ and Joseph, RM and Condouris, K and Tager-Flusberg, H and Priori, SG and Sanguinetti, MC and Keating, MT
CELL, ISSN 0092-8674, 10/2004, Volume 119, Issue 1, pp. 19 - 31
Ca(v)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present... 
FUNCTIONAL EXPRESSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN GENETIC-DISEASE | SUDDEN CARDIAC DEATH | CA2+ CHANNEL | MOLECULAR DETERMINANTS | LONG-QT SYNDROME | LANGE-NIELSEN-SYNDROME | PERVASIVE DEVELOPMENTAL DISORDERS | STATIONARY NIGHT BLINDNESS | POTASSIUM CHANNEL | CELL BIOLOGY | Limb Deformities, Congenital - genetics | Action Potentials - genetics | Autistic Disorder - physiopathology | Calcium - metabolism | Humans | Genetic Diseases, Inborn - genetics | Male | Cell Membrane - genetics | Arrhythmias, Cardiac - physiopathology | Mutation, Missense - genetics | Oocytes | Brain - metabolism | Genetic Diseases, Inborn - complications | Female | Cell Membrane - metabolism | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Arrhythmias, Cardiac - genetics | Infant, Newborn | Brain Chemistry - genetics | CHO Cells | Autistic Disorder - genetics | Heart - physiopathology | Cricetinae | Brain - physiopathology | Xenopus laevis | Abnormalities, Multiple - physiopathology | Syndrome | Animals | Calcium Channels, L-Type - genetics | Pedigree | Myocytes, Cardiac - metabolism | Limb Deformities, Congenital - complications | Arrhythmias, Cardiac - complications | Genetic Diseases, Inborn - physiopathology | Mice | Calcium Channels, L-Type - metabolism | Autistic Disorder - complications | Calcium Signaling - genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
by Vinh, Donald C and Patel, Smita Y and Uzel, Gulbu and Anderson, Victoria L and Freeman, Alexandra F and Olivier, Kenneth N and Spalding, Christine and Hughes, Stephen and Pittaluga, Stefania and Raffeld, Mark and Sorbara, Lynn R and Elloumi, Houda Z and Kuhns, Douglas B and Turner, Maria L and Cowen, Edward W and Fink, Danielle and Long-Priel, Debra and Hsu, Amy P and Ding, Li and Paulson, Michelle L and Whitney, Adeline R and Sampaio, Elizabeth P and Frucht, David M and DeLeo, Frank R and Holland, Steven M
Blood, ISSN 0006-4971, 02/2010, Volume 115, Issue 8, pp. 1519 - 1529
We identified 18 patients with the distinct clinical phenotype of susceptibility to disseminated nontuberculous mycobacterial infections, viral infections,... 
PULMONARY ALVEOLAR PROTEINOSIS | HAIRY-CELL LEUKEMIA | KAPOSI-SARCOMA | BONE-MARROW ORIGIN | INTERFERON-GAMMA | IFN-GAMMA | KUPFFER CELLS | ACUTE MYELOID-LEUKEMIA | BLOOD MONOCYTES | HEMATOLOGY | AVIUM INFECTION | Genetic Diseases, Inborn - blood | Neoplasms - etiology | Humans | Middle Aged | Genetic Diseases, Inborn - genetics | Leukopenia - genetics | Male | Myelodysplastic Syndromes - blood | Mycobacterium Infections - blood | Papillomavirus Infections - blood | Fungi | Leukopenia - blood | Neoplasms - blood | Neoplasms - genetics | Mycobacterium Infections - genetics | Genetic Diseases, Inborn - complications | Adult | Female | Leukocyte Count | Mycoses - blood | Papillomavirus Infections - etiology | Child | Mycobacterium | Genetic Predisposition to Disease - genetics | Mycobacterium Infections - etiology | Mycoses - genetics | Myelodysplastic Syndromes - etiology | Papillomavirus Infections - genetics | Pedigree | Leukopenia - complications | Adolescent | Papillomaviridae | Myelodysplastic Syndromes - genetics | Mycoses - etiology | Clinical Trials and Observations
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Inherited metabolic epilepsies
by Pearl, Phillip L
2013, ISBN 9781617050565, xiv, 356
Metabolism, Inborn errors of | complications | Brain Diseases, Metabolic, Inborn | Epilepsy | therapy | diagnosis | Genetic aspects | etiology
Book
Details down arrow
8. Full Text Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease
by Lougaris, Vassilios, MD and Tabellini, Giovanna, PhD and Vitali, Massimiliano, PhD and Baronio, Manuela, PhD and Patrizi, Ornella, PhD and Tampella, Giacomo, PhD and Biasini, Augusto, MD and Moratto, Daniele, PhD and Parolini, Silvia, PhD and Plebani, Alessandro, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 6, pp. 1641 - 1643.e3
  The underlying genetic mechanisms have been elucidated in the last few years in less than 10% to 15% of the cases and involve mutations in CD19, MS4A1... 
Allergy and Immunology | ALLERGY | COMMON VARIABLE IMMUNODEFICIENCY | NFKB2 MUTATION | IMMUNOLOGY | SEQUENCING DATA | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | DEFICIENCY | Common Variable Immunodeficiency - immunology | Alopecia - complications | Alopecia - immunology | Humans | Genetic Diseases, Inborn - genetics | Hypoglycemia - immunology | Molecular Sequence Data | Male | Hypoglycemia - pathology | Killer Cells, Natural - pathology | Genetic Diseases, Inborn - pathology | Adrenocorticotropic Hormone - genetics | Respiratory Tract Infections - genetics | Endocrine System Diseases - immunology | Alopecia - genetics | NF-kappa B p52 Subunit - genetics | Adrenocorticotropic Hormone - deficiency | Base Sequence | Genetic Diseases, Inborn - complications | Killer Cells, Natural - immunology | Adult | Respiratory Tract Infections - complications | B-Lymphocytes - pathology | Endocrine System Diseases - genetics | T-Lymphocytes - pathology | Endocrine System Diseases - pathology | Respiratory Tract Infections - pathology | Hypoglycemia - genetics | Gene Expression | NF-kappa B p52 Subunit - immunology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Common Variable Immunodeficiency - complications | Alopecia - pathology | B-Lymphocytes - immunology | Adrenocorticotropic Hormone - immunology | Respiratory Tract Infections - immunology | Hypoglycemia - complications | Heterozygote | T-Lymphocytes - immunology | Mutation | Cytotoxicity, Immunologic | Endocrine System Diseases - complications | Immunoglobulins | Baldness | Laboratories | Cytotoxicity | Infections | Kinases | Hypothyroidism | Patients | Defects | Genotype & phenotype | Hormone replacement therapy | Age | Immune system
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Population attributable fractions of risk factors for hepatocellular carcinoma in the United States
by Makarova‐Rusher, Oxana V and Altekruse, Sean F and McNeel, Tim S and Ulahannan, Susanna and Duffy, Austin G and Graubard, Barry I and Greten, Tim F and McGlynn, Katherine A
Cancer, ISSN 0008-543X, 06/2016, Volume 122, Issue 11, pp. 1757 - 1765
BACKGROUND Hepatocellular carcinoma (HCC) incidence has been increasing in the United States for several decades; and, as the incidence of hepatitis C virus... 
hepatitis C virus | metabolic disorders | attributable fractions | hepatitis B virus | hepatocellular carcinoma | population | METABOLIC SYNDROME | VIRUS-INFECTION | PREVALENCE | TRENDS | SEROPREVALENCE | EUROPEAN COHORT | LIVER-CANCER | OBESITY | HEPATITIS | ONCOLOGY | DISEASE BURDEN | Smoking - adverse effects | Carcinoma, Hepatocellular - epidemiology | SEER Program | Humans | Risk Factors | Male | Alcohol Drinking - adverse effects | Case-Control Studies | Hepatitis B - complications | Liver Neoplasms - etiology | Liver Neoplasms - epidemiology | Ethnic Groups | Genetic Diseases, Inborn - complications | Sex Factors | Female | Hepatitis C - complications | Aged | Carcinoma, Hepatocellular - etiology | Odds Ratio | Metabolic Diseases - complications | Care and treatment | Metabolic diseases | Hepatoma | Diagnosis | Management | Risk factors | Public health | population attributable fractions
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Similarities between inherited demyelinating neuropathies and wallerian degeneration: An old repair program may cause myelin and axon perturbation under nonlesion conditions
by Martini, Rudolf and Klein, Dennis and Groh, Janos
American Journal of Pathology, ISSN 0002-9440, 2013, Volume 183, Issue 3, pp. 655 - 660
Wallerian degeneration (WD) and inherited demyelinating neuropathies of the Charcot-Marie-Tooth type 1 (CMT1) appear to represent completely distinct events.... 
Inflammation - pathology | Wallerian Degeneration - pathology | Myelin Sheath - pathology | Humans | Wallerian Degeneration - complications | Demyelinating Diseases - complications | Genetic Diseases, Inborn - pathology | Nerve Regeneration | Inflammation - complications | Animals | Axons - pathology | Genetic Diseases, Inborn - complications | Demyelinating Diseases - pathology
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature
by Shi, Chuan and Wang, Fen and Tong, Anli and Zhang, Xiao-Qian and Song, Hong-Mei and Liu, Zheng-Yin and Lyu, Wei and Liu, Yue-Hua and Xia, Wei-Bo
Medicine (United States), ISSN 0025-7974, 2016, Volume 95, Issue 40, p. e5081
BackgroundCommon variable immunodeficiency (CVID) with central adrenal insufficiency is a recently defined clinical syndrome caused by mutations in the nuclear... 
NFKB2 protein | Common variable immunodeficiency | Adrenocorticotropic hormone deficiency | Ectodermal dysplasia | MEDICINE, GENERAL & INTERNAL | ectodermal dysplasia | PATHWAY | AIRE | adrenocorticotropic hormone deficiency | NF-KAPPA-B2 P100 | common variable immunodeficiency | CELL CYTOTOXIC ACTIVITY | NF-KAPPA-B | Endocrine System Diseases - metabolism | Humans | Genetic Diseases, Inborn - genetics | Adrenocorticotropic Hormone - genetics | DNA Mutational Analysis | NF-kappa B p52 Subunit - genetics | Adrenocorticotropic Hormone - deficiency | Genetic Diseases, Inborn - complications | Female | Genetic Diseases, Inborn - metabolism | Endocrine System Diseases - genetics | Adrenocorticotropic Hormone - metabolism | Hypoglycemia - genetics | Common Variable Immunodeficiency - genetics | Hypoglycemia - metabolism | Common Variable Immunodeficiency - complications | NF-kappa B p52 Subunit - metabolism | DNA - genetics | Adrenal Insufficiency | Common Variable Immunodeficiency - metabolism | Adolescent | Hypoglycemia - complications | Heterozygote | Mutation | Endocrine System Diseases - complications | Respiratory tract infections | Complications and side effects | Care and treatment | Genes | Immunodeficiency | Research | Mutation (Biology)
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text A systematic review of genetic syndromes with obesity
by Kaur, Y and Souza, R. J and Gibson, W. T and Meyre, D
Obesity Reviews, ISSN 1467-7881, 06/2017, Volume 18, Issue 6, pp. 603 - 634
Summary Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and involves the co‐presentation of other characteristics, such as... 
syndromic obesity | quality of evidence | genetic elucidation | disease heterogeneity | GENOTYPE-PHENOTYPE CORRELATION | OF-FUNCTION MUTATIONS | RUBINSTEIN-TAYBI SYNDROME | LINKED MENTAL-RETARDATION | RAPID-ONSET OBESITY | PROXIMAL 19Q TRISOMY | ENDOCRINOLOGY & METABOLISM | BARDET-BIEDL-SYNDROME | BODY-MASS INDEX | DE-LANGE-SYNDROME | PRADER-WILLI-SYNDROME | Genetic Predisposition to Disease | Obesity - complications | Humans | Genetic Diseases, Inborn - complications | Genetic Diseases, Inborn - genetics | Chromosome Disorders - complications | Terminology as Topic | Biomedical Research - trends | Genetic Markers | Obesity - genetics | Chromosome Disorders - genetics | Syndrome | Medicine, Experimental | Medical research | Obesity | Analysis | Literature reviews | Reviews | Abnormalities | Classification | Disorders | Heredity | Naming
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights