X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (131) 131
humans (128) 128
cfc syndrome (98) 98
genetics & heredity (86) 86
male (83) 83
female (73) 73
noonan syndrome (65) 65
syndrome (58) 58
phenotype (48) 48
heart defects, congenital - genetics (45) 45
noonan syndrome - genetics (39) 39
cardio-facio-cutaneous syndrome (38) 38
child, preschool (38) 38
abnormalities, multiple - genetics (37) 37
child (37) 37
costello-syndrome (37) 37
cardiofaciocutaneous syndrome (36) 36
mutation (36) 36
facies (35) 35
facio-cutaneous syndrome (34) 34
adult (30) 30
germline mutations (30) 30
infant (29) 29
noonan-syndrome (28) 28
pediatrics (28) 28
adolescent (27) 27
abnormalities, multiple - pathology (23) 23
cfc (22) 22
ectodermal dysplasia - genetics (22) 22
face - abnormalities (22) 22
heart defects, congenital - pathology (22) 22
costello syndrome (21) 21
genotype (21) 21
proto-oncogene proteins b-raf - genetics (21) 21
failure to thrive - genetics (19) 19
braf (18) 18
infant, newborn (18) 18
noonan syndrome - diagnosis (18) 18
patient (18) 18
ptpn11 (18) 18
animals (17) 17
intellectual disability - genetics (17) 17
diagnosis, differential (16) 16
braf mutations (15) 15
cardiofaciocutaneous cfc syndrome (15) 15
cardio‐facio‐cutaneous syndrome (15) 15
kras (15) 15
dna mutational analysis (14) 14
genetic aspects (14) 14
heart defects, congenital - complications (14) 14
heart defects, congenital - diagnosis (14) 14
protein-tyrosine-phosphatase (14) 14
skin abnormalities - genetics (14) 14
delineation (13) 13
manifestations (13) 13
map kinase kinase 2 - genetics (13) 13
ras proteins - genetics (13) 13
skin abnormalities (13) 13
genetic disorders (12) 12
map kinase kinase 1 - genetics (12) 12
mental-retardation (12) 12
mutations (12) 12
ptpn11 mutations (12) 12
ras (12) 12
research (12) 12
cause noonan-syndrome (11) 11
gene mutations (11) 11
genotype-phenotype correlation (11) 11
mental retardation (11) 11
noonan syndrome - pathology (11) 11
of-function mutations (11) 11
pedigree (11) 11
protein tyrosine phosphatase, non-receptor type 11 (11) 11
protein tyrosine phosphatases - genetics (11) 11
rasopathy (11) 11
abnormalities, multiple - diagnosis (10) 10
diagnosis (10) 10
ectodermal dysplasia - complications (10) 10
ectodermal dysplasia - pathology (10) 10
intellectual disability (10) 10
pathway (10) 10
signal transduction (10) 10
skin abnormalities - pathology (10) 10
anomalies (9) 9
biochemistry & molecular biology (9) 9
clinical neurology (9) 9
dermatology (9) 9
facial bones - abnormalities (9) 9
failure to thrive - pathology (9) 9
juvenile myelomonocytic leukemia (9) 9
mice (9) 9
noonan (9) 9
proto-oncogene proteins - genetics (9) 9
abnormalities (8) 8
clinical variability (8) 8
cohort studies (8) 8
ectodermal dysplasia - diagnosis (8) 8
failure to thrive - complications (8) 8
germ-line mutation (8) 8
karyotyping (8) 8
more...
Language Language
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
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 695 - 702
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 05/2011, Volume 157, Issue 2, pp. 129 - 135
Journal Article
Journal Article
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 01/2019, Volume 180, Issue 1, pp. 172 - 180
What's already known about this topic? Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without... 
MAMMALIAN TARGET | FACIO-CUTANEOUS SYNDROME | BRAF MUTATIONS | CFC SYNDROME | CLINICAL-FEATURES | KERATOSIS PILARIS | SCHOOL-CHILDREN | MELANOCYTIC NEVI | COSTELLO SYNDROME | NOONAN-SYNDROME | DERMATOLOGY | Hair | Phenotypes | Sirolimus | Systemic diseases | Dermatology | Skin | Mutation | Patients | Genotypes | Keratosis | Life Sciences
Journal Article
Medical Journal Armed Forces India, ISSN 0377-1237, 04/2013, Volume 69, Issue 2, pp. 175 - 177
Journal Article
Journal Article
Journal Article
Human molecular genetics, ISSN 0964-6906, 12/2014, Volume 23, Issue 24, pp. 6553 - 6566
Cardio-facio-cutaneous (CFC) syndrome is one of the 'RASopathies', a group of phenotypically overlapping syndromes caused by germline mutations that encode... 
ONCOGENIC RAS | SIGNALING PATHWAY | COSTELLO-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | CARDIOFACIOCUTANEOUS SYNDROME | CFC SYNDROME | CLINICAL-FEATURES | B-RAF | NOONAN-SYNDROME | HUMAN CANCER | MOLECULAR-MECHANISMS | Diphenylamine - pharmacology | Histone Demethylases - antagonists & inhibitors | Embryo, Mammalian | Humans | Ectodermal Dysplasia - drug therapy | Male | Histone Demethylases - genetics | Genes, Lethal | Diphenylamine - analogs & derivatives | Heart Defects, Congenital - genetics | Ectodermal Dysplasia - metabolism | Liver - drug effects | Failure to Thrive - pathology | Facies | Skull - abnormalities | Ectodermal Dysplasia - pathology | Female | Benzamides - pharmacology | MAP Kinase Kinase Kinases - antagonists & inhibitors | Skull - drug effects | Proto-Oncogene Proteins B-raf - metabolism | Disease Models, Animal | Failure to Thrive - genetics | Signal Transduction | MAP Kinase Kinase Kinases - genetics | Failure to Thrive - drug therapy | Gene Expression Regulation | Heart Defects, Congenital - pathology | Heart Defects, Congenital - drug therapy | Mice, Transgenic | Myocardium - pathology | MAP Kinase Kinase Kinases - metabolism | Benzazepines - pharmacology | Pyrimidines - pharmacology | Gene Knock-In Techniques | Drug Synergism | Histone Demethylases - metabolism | Animals | Proto-Oncogene Proteins B-raf - genetics | Failure to Thrive - metabolism | Liver - abnormalities | Histone Deacetylase Inhibitors - pharmacology | Ectodermal Dysplasia - genetics | Heart Defects, Congenital - metabolism | Mice | Protein Kinase Inhibitors - pharmacology | Mutation | Index Medicus
Journal Article