X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (2987) 2987
Publication (354) 354
Newsletter (266) 266
Book Chapter (43) 43
Book Review (16) 16
Dissertation (12) 12
Magazine Article (7) 7
Reference (5) 5
Book / eBook (4) 4
Conference Proceeding (4) 4
Web Resource (4) 4
Journal / eJournal (2) 2
Newspaper Article (1) 1
Paper (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (2141) 2141
noonan syndrome (1596) 1596
male (1171) 1171
female (1081) 1081
index medicus (1002) 1002
noonan syndrome - genetics (747) 747
child (726) 726
genetics & heredity (641) 641
noonan-syndrome (569) 569
adult (567) 567
mutation (555) 555
phenotype (511) 511
adolescent (499) 499
noonan syndrome - complications (475) 475
child, preschool (454) 454
pediatrics (413) 413
noonan syndrome - diagnosis (412) 412
genetic aspects (379) 379
research (378) 378
infant (368) 368
animals (341) 341
medical research (325) 325
medicine, experimental (310) 310
ptpn11 (299) 299
mutations (270) 270
protein tyrosine phosphatase, non-receptor type 11 - genetics (267) 267
children (256) 256
infant, newborn (247) 247
signal transduction (218) 218
noonan syndrome - pathology (206) 206
syndrome (200) 200
article (193) 193
diagnosis (182) 182
mice (180) 180
gene mutations (179) 179
diagnosis, differential (165) 165
biochemistry & molecular biology (163) 163
cardiac & cardiovascular systems (161) 161
facio-cutaneous syndrome (158) 158
analysis (157) 157
heart defects, congenital - genetics (157) 157
of-function mutations (156) 156
hypertrophic cardiomyopathy (154) 154
costello-syndrome (153) 153
genetic disorders (153) 153
juvenile myelomonocytic leukemia (151) 151
noonan syndrome - physiopathology (151) 151
gene (150) 150
ptpn11 mutations (150) 150
protein tyrosine phosphatase, non-receptor type 11 (142) 142
protein-tyrosine-phosphatase (141) 141
genotype (139) 139
protein tyrosine phosphatases - genetics (139) 139
disorders (137) 137
dna mutational analysis (137) 137
pregnancy (137) 137
ras proteins - genetics (135) 135
genetics (134) 134
cancer (133) 133
oncology (132) 132
middle aged (131) 131
ras (131) 131
cell biology (130) 130
germline mutations (130) 130
cause noonan-syndrome (127) 127
endocrinology & metabolism (127) 127
intracellular signaling peptides and proteins - genetics (127) 127
proteins (127) 127
reports (125) 125
noonan's syndrome (123) 123
pedigree (121) 121
risk factors (120) 120
hematology (119) 119
spectrum (119) 119
abnormalities, multiple - genetics (117) 117
genes (116) 116
rasopathies (116) 116
congenital heart disease (115) 115
protein tyrosine phosphatase, non-receptor type 11 - metabolism (110) 110
care and treatment (104) 104
disease (103) 103
facies (103) 103
mutation, missense (103) 103
activation (102) 102
costello syndrome (102) 102
cardiomyopathy (101) 101
health aspects (101) 101
growth (99) 99
leopard-syndrome (98) 98
neurofibromatosis (98) 98
leopard syndrome - genetics (96) 96
noonan syndrome - drug therapy (96) 96
ras proteins - metabolism (96) 96
genetic research (95) 95
genotype-phenotype correlation (95) 95
kinases (95) 95
leopard syndrome (94) 94
pathway (92) 92
leukemia (91) 91
physiological aspects (91) 91
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2926) 2926
French (72) 72
German (69) 69
Spanish (69) 69
Japanese (54) 54
Italian (27) 27
Portuguese (17) 17
Polish (14) 14
Russian (13) 13
Korean (9) 9
Chinese (7) 7
Dutch (7) 7
Turkish (7) 7
Czech (5) 5
Hungarian (4) 4
Swedish (4) 4
Croatian (2) 2
Danish (2) 2
Bosnian (1) 1
Bulgarian (1) 1
Finnish (1) 1
Hebrew (1) 1
Norwegian (1) 1
Persian (1) 1
Serbian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article
Current Opinion in Genetics & Development, ISSN 0959-437X, 2009, Volume 19, Issue 3, pp. 230 - 236
Journal Article
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
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2010, Volume 25, Issue 1, pp. 161 - 179
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial... 
Endocrinology & Metabolism | pathogenetic mechanisms | Noonan syndrome | genotype-phenotype correlations | diagnosis | Noonan-like syndrome with loose anagen hair | LEOPARD syndrome | RAS signaling | patient management | CBL mutation-associated syndrome | LEOPARD-SYNDROME | SOMATIC PTPN11 MUTATIONS | GROWTH-HORMONE TREATMENT | OF-FUNCTION MUTATIONS | RAS SUPERFAMILY | PHENOTYPIC SPECTRUM | SHP2 MUTATIONS | ENDOCRINOLOGY & METABOLISM | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERMLINE MUTATIONS | MYELODYSPLASTIC SYNDROMES | Loose Anagen Hair Syndrome - genetics | Costello Syndrome - diagnosis | Humans | LEOPARD Syndrome - genetics | Infant | Heart Defects, Congenital - genetics | Facies | SOS1 Protein - genetics | Failure to Thrive - diagnosis | Neurofibromatosis 1 - genetics | Child | Intracellular Signaling Peptides and Proteins - genetics | Noonan Syndrome - diagnosis | Proto-Oncogene Proteins c-cbl - genetics | Failure to Thrive - genetics | Proto-Oncogene Proteins c-raf - genetics | Ectodermal Dysplasia - diagnosis | Noonan Syndrome - genetics | Loose Anagen Hair Syndrome - diagnosis | Costello Syndrome - genetics | Proto-Oncogene Proteins B-raf - genetics | Adolescent | LEOPARD Syndrome - diagnosis | Heart Defects, Congenital - diagnosis | Mitogen-Activated Protein Kinases - genetics | Ectodermal Dysplasia - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Proteins | Developmental biology | Protein kinases
Journal Article
Neurofibromatosis-Noonan syndrome or LEOPARD syndrome? A clinical dilemma, 12/2000
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself.... 
Neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Lentigines, Pulmonary stenosis, Cafe-au-lait spots
Journal