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Clinical Cancer Research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the... 
GENOTYPE-PHENOTYPE CORRELATION | RUBINSTEIN-TAYBI-SYNDROME | SOTOS-SYNDROME | ONCOLOGY | SCHINZEL-GIEDION-SYNDROME | CAUSE NOONAN | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERM-CELL TUMOR | OF-FUNCTION MUTATIONS | CLINICAL-FEATURES | FACTOR-I TITF-1/NKX2.1 | Abnormalities, Multiple - pathology | Neoplastic Syndromes, Hereditary - pathology | Craniofacial Abnormalities - epidemiology | Sotos Syndrome - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Noonan Syndrome - pathology | Neoplastic Syndromes, Hereditary - epidemiology | Rubinstein-Taybi Syndrome - genetics | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - epidemiology | Craniofacial Abnormalities - pathology | Thyroid Nuclear Factor 1 - genetics | Neoplastic Syndromes, Hereditary - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Intellectual Disability - epidemiology | Colorectal Neoplasms - epidemiology | Hand Deformities, Congenital - epidemiology | Sotos Syndrome - genetics | Costello Syndrome - pathology | Sotos Syndrome - pathology | Risk Factors | Intellectual Disability - pathology | Brain Neoplasms - genetics | Rubinstein-Taybi Syndrome - pathology | Noonan Syndrome - genetics | Nails, Malformed - genetics | Costello Syndrome - epidemiology | Costello Syndrome - genetics | Hand Deformities, Congenital - genetics | Nails, Malformed - epidemiology | Rubinstein-Taybi Syndrome - epidemiology | Congenital Hypothyroidism - pathology | Noonan Syndrome - epidemiology | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Colorectal Neoplasms - pathology | Congenital Hypothyroidism - epidemiology | Hand Deformities, Congenital - pathology | Brain Neoplasms - epidemiology | Brain | Physical examinations | Brain tumors | Health problems | Disorders | Health risks | Aciduria | Risk | Infants | Patients | K-Ras protein | Surveillance | Children | Health risk assessment | Thyroid transcription factor 1 | Metabolic disorders | Cancer
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 339 - 343
Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS) and genitopatellar syndrome (GTPTS) are clinically similar disorders with some overlapping features.... 
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSS | KAT6B | lysine acetyltransferase 6B | genitopatellar syndrome | KAT6B spectrum disorders | GTPTS | KAT6B‐related disorders | KAT6B-related disorders | BLEPHAROPHIMOSIS | HISTONE ACETYLTRANSFERASE | FEATURES | RETARDATION | Say-Barber-Biesecker-Young-Simpson syndrome, SBBYSS | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Genetic disorders | Multiprocessing | Lysine | Genetic aspects | Nucleotide sequencing | DNA sequencing | Genotype & phenotype
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Life Sciences | Human genetics
Journal Article
PLoS Biology, ISSN 1544-9173, 2014, Volume 12, Issue 9, p. e1001952
Characterization of the genetic defects causing gonadotropic deficiency has made a major contribution to elucidation of the fundamental role of Kisspeptins and... 
V-ATPASE | CATALYTIC SUBUNIT | GDP/GTP EXCHANGE PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOLOGY | HYPOMYELINATING LEUKODYSTROPHY | POL III | MUTATIONS | GTPASE-ACTIVATING PROTEIN | HYPOGONADOTROPIC HYPOGONADISM | NEUROKININ B | PUBERTY | Hypothyroidism - pathology | Hypothyroidism - metabolism | Testis - metabolism | Humans | Nerve Tissue Proteins - deficiency | Diabetes Mellitus, Type 1 - metabolism | Male | Luteinizing Hormone - metabolism | Polyneuropathies - metabolism | Intellectual Disability - metabolism | Young Adult | Infertility, Male - genetics | Base Sequence | Neurons - metabolism | Hypoglycemia - genetics | Gonadotropin-Releasing Hormone - genetics | Diabetes Mellitus, Type 1 - pathology | Intellectual Disability - pathology | Hypothalamus - pathology | Hypoglycemia - metabolism | Infertility, Male - pathology | Testis - growth & development | Mice, Knockout | Hypothalamus - metabolism | Testis - pathology | Adaptor Proteins, Signal Transducing - deficiency | Adolescent | Gonadotropin-Releasing Hormone - metabolism | Polyneuropathies - genetics | Mice | Neurons - pathology | Sequence Deletion | Hypothalamus - growth & development | Pituitary Gland - metabolism | Molecular Sequence Data | Hypoglycemia - pathology | Intellectual Disability - genetics | Hypothyroidism - genetics | Follicle Stimulating Hormone - genetics | Sexual Maturation | Follicle Stimulating Hormone - metabolism | Luteinizing Hormone - genetics | Pituitary Gland - pathology | Diabetes Mellitus, Type 1 - genetics | Pituitary Gland - growth & development | Nerve Tissue Proteins - genetics | Syndrome | Haploinsufficiency | Homozygote | Animals | Polyneuropathies - pathology | Adaptor Proteins, Signal Transducing - genetics | Infertility, Male - metabolism | Life Sciences | Human health and pathology | Neurons and Cognition | Neurobiology | Pituitary gland | Neurons | Infertility | Rodents
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 03/2017, Volume 36, Issue 2, pp. 130 - 138
Mutations in KAT6B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations... 
KAT6B gene | de novo mutation | short stature | targeted next generation sequencing | MENTAL-RETARDATION | DISORDERS | OHDO SYNDROME | MECHANISMS | PATHOLOGY | HISTONE ACETYLTRANSFERASE KAT6B | DELINEATION | PEDIATRICS | QUERKOPF | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Exons - genetics | Mutation - genetics | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Codon, Nonsense - genetics | Urogenital Abnormalities - genetics
Journal Article
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
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 5, pp. 521 - 531
Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental... 
aplasia of alae nasi | cognitive impairment | Johanson–Blizzard syndrome | UBR1 | exocrine pancreatic insufficiency | Exocrine pancreatic insufficiency | Aplasia of alae nasi | Johanson-Blizzard syndrome | Cognitive impairment | PRENATAL ULTRASONOGRAPHIC DIAGNOSIS | COMPLEX | JOHANSON-BLIZZARD-SYNDROME | UBIQUITIN LIGASE | INVOLVEMENT | AUTOPSY FINDINGS | DIABETES-MELLITUS | MALFORMATIONS | SEQUENCE | GENETICS & HEREDITY | END RULE PATHWAY | Abnormalities, Multiple - pathology | Hypothyroidism - pathology | Nose - abnormalities | Growth Disorders - pathology | Humans | Databases, Genetic | Anus, Imperforate - pathology | Intellectual Disability - genetics | Pancreatic Diseases - pathology | Ectodermal Dysplasia - pathology | Dwarfism - pathology | Hypothyroidism - genetics | Abnormalities, Multiple - genetics | Nose - pathology | Intellectual Disability - pathology | Hearing Loss, Sensorineural - pathology | Hearing Loss, Sensorineural - genetics | Mutation - genetics | Pancreatic Diseases - genetics | Dwarfism - genetics | Phenotype | Anus, Imperforate - genetics | Ectodermal Dysplasia - genetics | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Ubiquitin | Genetic aspects | Thyroid hormones | Hypothyroidism | Ligases | Genotype & phenotype | Genetic disorders | Mutation | Medical and Health Sciences | Medicin och hälsovetenskap
Journal Article
American Journal of Hematology, ISSN 0361-8609, 12/2014, Volume 89, Issue 12, pp. 1102 - 1106
Iron overload in β‐thalassemia major (TM) typically results in iron‐induced cardiomyopathy, liver disease, and endocrine complications. We examined the... 
IMPACT | TRANSFUSIONAL IRON OVERLOAD | MRI | MASS | REPLACEMENT THERAPY | IMPROVEMENT | COMPLICATIONS | PREVALENCE | HEMATOLOGY | HYPOGONADISM | NORTH-AMERICA | Diabetes Mellitus - pathology | Hypothyroidism - pathology | Hypothyroidism - metabolism | Benzoates - therapeutic use | Humans | Middle Aged | Child, Preschool | Male | Puberty, Delayed - metabolism | Iron Overload - etiology | Osteoporosis - metabolism | Hypogonadism - metabolism | Bone and Bones - metabolism | Diphosphonates - therapeutic use | Child | Triazoles - therapeutic use | Iron Chelating Agents - therapeutic use | Hypoparathyroidism - metabolism | beta-Thalassemia - drug therapy | Puberty, Delayed - pathology | Diabetes Mellitus - prevention & control | Osteoporosis - pathology | Adolescent | beta-Thalassemia - metabolism | Hypogonadism - etiology | beta-Thalassemia - pathology | Bone and Bones - pathology | Iron Overload - drug therapy | Calcium - administration & dosage | Chelation Therapy | beta-Thalassemia - complications | Hypoparathyroidism - pathology | Hypoparathyroidism - prevention & control | Iron Overload - pathology | Osteoporosis - etiology | Bone and Bones - drug effects | Hypogonadism - prevention & control | Iron Overload - metabolism | Puberty, Delayed - etiology | Adult | Diabetes Mellitus - etiology | Female | Vitamin D - administration & dosage | Retrospective Studies | Hypothyroidism - prevention & control | Hypogonadism - pathology | Bone Density | Osteoporosis - prevention & control | Diabetes Mellitus - metabolism | Hypothyroidism - etiology | Puberty, Delayed - prevention & control | Hypoparathyroidism - etiology
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2009, Volume 4, Issue 11, pp. e7857 - e7857
Journal Article
Pediatrics, ISSN 0031-4005, 04/2009, Volume 123, Issue 4, pp. e752 - e762
Journal Article