Articles

UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

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 (2340) 2340
Book Chapter (160) 160
Newsletter (126) 126
Newspaper Article (70) 70
Dissertation (23) 23
Magazine Article (10) 10
Publication (10) 10
Reference (5) 5
Book / eBook (4) 4
Conference Proceeding (4) 4
Web Resource (3) 3
Journal / eJournal (2) 2
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (1680) 1680
noonan syndrome (1491) 1491
science & technology (1249) 1249
life sciences & biomedicine (1221) 1221
male (1006) 1006
female (909) 909
noonan syndrome - genetics (781) 781
child (617) 617
noonan syndrome - complications (487) 487
adult (483) 483
genetics & heredity (469) 469
biological and medical sciences (452) 452
mutation (447) 447
medical sciences (446) 446
adolescent (439) 439
noonan syndrome - diagnosis (421) 421
child, preschool (372) 372
pediatrics (319) 319
infant (302) 302
phenotype (290) 290
genetic aspects (256) 256
research (233) 233
medical genetics (230) 230
medical research (225) 225
medicine, experimental (218) 218
noonan syndrome - pathology (214) 214
infant, newborn (211) 211
protein tyrosine phosphatase, non-receptor type 11 - genetics (202) 202
noonan's syndrome (182) 182
diseases of the osteoarticular system (157) 157
noonan syndrome - physiopathology (157) 157
abridged index medicus (154) 154
malformations and congenital and or hereditary diseases involving bones. joint deformations (154) 154
diagnosis, differential (139) 139
ptpn11 (139) 139
signal transduction (137) 137
animals (130) 130
gene mutations (127) 127
cardiovascular system & cardiology (125) 125
syndrome (123) 123
genetic disorders (122) 122
cardiac & cardiovascular systems (118) 118
pregnancy (115) 115
dna mutational analysis (111) 111
protein tyrosine phosphatase, non-receptor type 11 (109) 109
heart defects, congenital - genetics (107) 107
complex syndromes (106) 106
protein tyrosine phosphatases - genetics (105) 105
intracellular signaling peptides and proteins - genetics (103) 103
middle aged (101) 101
analysis (100) 100
ras proteins - genetics (100) 100
noonan syndrome - drug therapy (95) 95
endocrinology & metabolism (91) 91
genes (90) 90
genetics (90) 90
diagnosis (89) 89
heart (89) 89
pedigree (89) 89
hypertrophic cardiomyopathy (87) 87
costello syndrome (86) 86
mutation, missense (86) 86
rasopathies (86) 86
noonan syndrome - diagnostic imaging (84) 84
risk factors (83) 83
care and treatment (82) 82
young adult (82) 82
congenital heart disease (81) 81
physical fitness (81) 81
cardiomyopathy (79) 79
patients (79) 79
genetic research (78) 78
genotype (78) 78
abnormalities, multiple - genetics (77) 77
facies (75) 75
leopard syndrome (75) 75
kinases (74) 74
turner syndrome (74) 74
leopard syndrome - genetics (73) 73
proteins (73) 73
oncology (72) 72
neurosciences & neurology (70) 70
case report (69) 69
health aspects (69) 69
hematology (69) 69
rasopathy (69) 69
germ-line mutation (67) 67
karyotyping (66) 66
map kinase (65) 65
noonan syndrome - metabolism (65) 65
biochemistry & molecular biology (64) 64
children (64) 64
echocardiography (64) 64
growth hormone (64) 64
mice (64) 64
sos1 protein - genetics (64) 64
treatment outcome (64) 64
phenotypes (63) 63
surgery (63) 63
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2419) 2419
French (67) 67
Spanish (66) 66
Japanese (61) 61
German (50) 50
Portuguese (29) 29
Italian (26) 26
Chinese (19) 19
Polish (13) 13
Russian (13) 13
Turkish (9) 9
Dutch (7) 7
Czech (5) 5
Swedish (5) 5
Hungarian (4) 4
Korean (4) 4
Danish (2) 2
Bosnian (1) 1
Bulgarian (1) 1
Finnish (1) 1
Hebrew (1) 1
Norwegian (1) 1
Persian (1) 1
Serbian (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 Noonan syndrome
by Roberts, Amy E, Dr and Allanson, Judith E, Prof and Tartaglia, Marco, PhD and Gelb, Bruce D, Prof
The Lancet (British edition), ISSN 0140-6736, 2013, Volume 381, Issue 9863, pp. 333 - 342
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Diagnosis, Differential | Prognosis | Noonan Syndrome - genetics | Humans | Noonan Syndrome - therapy | Noonan Syndrome - diagnosis | Causes of | Care and treatment | Genetic aspects | Diagnosis | Noonan syndrome | Hair | Hematology | Medical treatment | Ear diseases | FDA approval | Hearing impairment | Blood | Defects | Proteins | Signal transduction | Child development | Growth hormones | Mutation | Age | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Noonan syndrome
by Van Der Burgt, Ineke
Orphanet journal of rare diseases, ISSN 1750-1172, 2007, Volume 2, Issue 1, pp. 4 - 4
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Prognosis | Humans | Noonan Syndrome - therapy | Noonan Syndrome - physiopathology | Child, Preschool | Genetic Counseling - methods | Infant | Mutation, Missense | Noonan Syndrome - genetics | Pregnancy | Protein Tyrosine Phosphatases - genetics | Adolescent | Adult | Female | Child Development | Prenatal Diagnosis - methods | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Noonan Syndrome - diagnosis | Causes of | Care and treatment | Noonan syndrome | Distribution | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk
by Villani, Anita and Greer, Mary-Louise C and Kalish, Jennifer M and Nakagawara, Akira and Nathanson, Katherine L and Pajtler, Kristian W and Pfister, Stefan M and Walsh, Michael F and Wasserman, Jonathan D and Zelley, Kristin and Kratz, Christian P
Clinical cancer research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
Life Sciences & Biomedicine | Oncology | Science & Technology | 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 | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
by Tidyman, William E and Rauen, Katherine A
Current opinion in genetics & development, ISSN 0959-437X, 2009, Volume 19, Issue 3, pp. 230 - 236
Medical Education | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Biology | ras Proteins - genetics | Humans | Noonan Syndrome - physiopathology | SOS1 Protein - metabolism | ras Proteins - metabolism | Signal Transduction - genetics | Noonan Syndrome - genetics | Syndrome | Noonan Syndrome - pathology | Animals | Models, Biological | SOS1 Protein - genetics | Germ-Line Mutation | Mitogen-Activated Protein Kinases - genetics | Signal Transduction - physiology | Mitogen-Activated Protein Kinases - metabolism | Gene mutations | Mitogens | Protein kinases | Index Medicus | MAP2K2 (MEK2) | Ras | capillary malformation-arteriovenous malformation syndrome | CRAF | NRAS | SPRED1 | gingival fibromatosis 1 syndrome | neurofibromin | cardio-facio-cutaneous syndrome | Noonan syndrome | HRAS | neurofibromatosis 1 | signal transduction pathway | MAP2K1 (MEK1) | BRAF | PTPN11 | MAPK | Legius syndrome | RASA1 | Costello syndrome | KRAS | autoimmune lymphoproliferative disorder | RAF1 | SOS1 | LEOPARD syndrome
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Noonan syndrome
by Turner, Anne M
Journal of paediatrics and child health, ISSN 1034-4810, 10/2014, Volume 50, Issue 10, pp. E14 - E20
short stature | PTPN11 | autosomal dominant | Noonan syndrome | congenital heart defect | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Prognosis | Humans | Noonan Syndrome - therapy | Child, Preschool | Infant | Male | Genetic Testing - methods | Early Intervention (Education) | Germ-Line Mutation | Adult | Female | Child | Infant, Newborn | Noonan Syndrome - diagnosis | Severity of Illness Index | Developmental Disabilities - physiopathology | Genetic Predisposition to Disease | Risk Assessment | Developmental Disabilities - etiology | Survival Rate | Noonan Syndrome - genetics | Developmental Disabilities - epidemiology | Adolescent | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Early Diagnosis | Autosomal dominant | Short stature | Congenital heart defect | Genetic disorders | Sarcoma | Gene mutations | Medical genetics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Noonan Syndrome
by Bhambhani, Vikas, MD and Muenke, Maximilian, MD
American family physician, ISSN 0002-838X, 2014, Volume 89, Issue 1, pp. 37 - 43
Internal Medicine | Medicine, General & Internal | Primary Health Care | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Age Distribution | Humans | Middle Aged | Noonan Syndrome - therapy | Child, Preschool | Infant | Male | Noonan Syndrome - genetics | Young Adult | Adolescent | Aged, 80 and over | Adult | Female | Aged | Noonan Syndrome - epidemiology | Child | Infant, Newborn | Noonan Syndrome - diagnosis | Noonan syndrome | Heart | Puberty | Genetic disorders | Congenital diseases | Cardiomyopathy | Intellectual disabilities | Fetuses | Endocrine therapy | Cryptorchidism | Cardiovascular disease | Hearing impairment | Kinases | Patients | Medical referrals | Genetic counseling | Cell cycle | Learning disabilities | Skin | Mutation | Speech disorders | Age | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2
by Bögershausen, Nina and Gatinois, Vincent and Riehmer, Vera and Kayserili, Hülya and Becker, Jutta and Thoenes, Michaela and Simsek‐Kiper, Pelin Özlem and Barat‐Houari, Mouna and Elcioglu, Nursel H and Wieczorek, Dagmar and Tinschert, Sigrid and Sarrabay, Guillaume and Strom, Tim M and Fabre, Aurélie and Baynam, Gareth and Sanchez, Elodie and Nürnberg, Gudrun and Altunoglu, Umut and Capri, Yline and Isidor, Bertrand and Lacombe, Didier and Corsini, Carole and Cormier‐Daire, Valérie and Sanlaville, Damien and Giuliano, Fabienne and Le Quan Sang, Kim‐Hanh and Kayirangwa, Honorine and Nürnberg, Peter and Meitinger, Thomas and Boduroglu, Koray and Zoll, Barbara and Lyonnet, Stanislas and Tzschach, Andreas and Verloes, Alain and Di Donato, Nataliya and Touitou, Isabelle and Netzer, Christian and Li, Yun and Geneviève, David and Yigit, Gökhan and Wollnik, Bernd
Human mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
MLL2 | KMT2D | KDM6C | Kabuki syndrome | UTY | KDM6A | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Hematologic Diseases - pathology | Genetic Predisposition to Disease | Face - abnormalities | Face - pathology | Humans | Male | DNA-Binding Proteins - genetics | Noonan Syndrome - genetics | Histone Demethylases - genetics | Sequence Analysis, DNA | Vestibular Diseases - pathology | Genes, X-Linked | Hematologic Diseases - genetics | Female | Mutation | Vestibular Diseases - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Maternal Inheritance | Genotype & phenotype | Genetic disorders | Index Medicus | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
by Aoki, Yoko and Niihori, Tetsuya and Banjo, Toshihiro and Okamoto, Nobuhiko and Mizuno, Seiji and Kurosawa, Kenji and Ogata, Tsutomu and Takada, Fumio and Yano, Michihiro and Ando, Toru and Hoshika, Tadataka and Barnett, Christopher and Ohashi, Hirofumi and Kawame, Hiroshi and Hasegawa, Tomonobu and Okutani, Takahiro and Nagashima, Tatsuo and Hasegawa, Satoshi and Funayama, Ryo and Nagashima, Takeshi and Nakayama, Keiko and Inoue, Shin-ichi and Watanabe, Yusuke and Ogura, Toshihiko and Matsubara, Yoichi
American journal of human genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | NIH 3T3 Cells | ras Proteins - genetics | Humans | Transcriptional Activation | Embryo, Nonmammalian - metabolism | Child, Preschool | ras Proteins - metabolism | Infant | Male | ets-Domain Protein Elk-1 - genetics | Mutation, Missense | RNA, Messenger - metabolism | Zebrafish - embryology | Incidence | MAP Kinase Signaling System | Noonan Syndrome - pathology | Muscle Spindles - pathology | ets-Domain Protein Elk-1 - metabolism | Germ-Line Mutation | Female | Cardiomyopathy, Hypertrophic - genetics | Embryo, Nonmammalian - pathology | RNA, Messenger - genetics | Mutation Rate | Noonan Syndrome - genetics | Animals | Noonan Syndrome - metabolism | Zebrafish - metabolism | Mice | Noonan Syndrome - epidemiology | Genetic Carrier Screening | Cardiomyopathy, Hypertrophic - pathology | Gene mutations | Noonan syndrome | Physiological aspects | Genetic aspects | Research | Guanosine triphosphatase | Health aspects | Zebrafish | Mutation | Kinases | Embryos | Genes | Cells | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights