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index medicus (186) 186
rasopathies (174) 174
humans (168) 168
genetics & heredity (133) 133
rasopathy (131) 131
noonan syndrome (129) 129
mutation (110) 110
male (101) 101
phenotype (88) 88
female (87) 87
noonan syndrome - genetics (58) 58
child (57) 57
ras (53) 53
genetic aspects (48) 48
child, preschool (45) 45
mutations (43) 43
costello syndrome (42) 42
costello-syndrome (42) 42
children (41) 41
facio-cutaneous syndrome (41) 41
signal transduction (41) 41
article (40) 40
infant (39) 39
adolescent (38) 38
facies (38) 38
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disorders (35) 35
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proto-oncogene proteins p21 - genetics (35) 35
adult (34) 34
analysis (34) 34
gene mutations (34) 34
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of-function mutations (34) 34
animals (33) 33
cancer (33) 33
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map kinase (32) 32
heart defects, congenital - genetics (31) 31
hypertrophic cardiomyopathy (30) 30
pathway (30) 30
ptpn11 (30) 30
genetic disorders (29) 29
ectodermal dysplasia - genetics (26) 26
cardiofaciocutaneous syndrome (25) 25
costello syndrome - genetics (25) 25
genes (25) 25
research (25) 25
diagnosis (24) 24
failure to thrive - genetics (24) 24
genotype (24) 24
protein tyrosine phosphatase, non-receptor type 11 - genetics (24) 24
cardio-facio-cutaneous syndrome (23) 23
genetics (23) 23
neurofibromatosis type-1 (23) 23
neurofibromatosis type 1 (22) 22
noonan syndrome - diagnosis (22) 22
ras proteins - metabolism (22) 22
genetic association studies (21) 21
infant, newborn (21) 21
neurofibromatosis (21) 21
ras/mapk (21) 21
kinases (20) 20
mapk (20) 20
spectrum (20) 20
braf (19) 19
cardiomyopathy (19) 19
dna mutational analysis (19) 19
hras (19) 19
kras (19) 19
leopard syndrome (19) 19
mutation, missense (19) 19
juvenile myelomonocytic leukemia (18) 18
loose anagen hair (18) 18
proteins (18) 18
ras/mapk pathway (18) 18
mice (17) 17
neurosciences (17) 17
gene (16) 16
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leopard-syndrome (16) 16
clinical neurology (15) 15
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ptpn11 mutations (15) 15
risk factors (15) 15
signal transduction - genetics (15) 15
young adult (15) 15
cardio‐facio‐cutaneous syndrome (14) 14
cause noonan-syndrome (14) 14
development and progression (14) 14
genotype-phenotype correlation (14) 14
intracellular signaling peptides and proteins - genetics (14) 14
mapk pathway (14) 14
mutation - genetics (14) 14
nf1 (14) 14
phenotypic spectrum (14) 14
proto-oncogene proteins p21 - metabolism (14) 14
shoc2 (14) 14
abnormalities, multiple - genetics (13) 13
genetic research (13) 13
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The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1223 - 1232
Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development.... 
RRAS2 | RASopathies | MAPK | RAS | Noonan syndrome
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1233 - 1240
Noonan syndrome (NS) is characterized by distinctive craniofacial appearance, short stature, and congenital heart disease. Approximately 80% of individuals... 
exome sequencing | macrocephaly | Noonan syndrome | RRAS2 | RASopathies | zebrafish | RAS/MAPK | functional profiling
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 11/2016, Volume 10, Issue 11, pp. SD01 - SD02
Cardiofaciocutaneous syndrome or CFC syndrome is a rare genetic disorder first described in 1986. It is one of the RASopathies involving multiple organs... 
Noonan syndrome | Costello syndrome | RASopathies | Paediatrics Section
Journal Article
The Journal of Pathology, ISSN 0022-3417, 06/2016, Volume 239, Issue 2, pp. 206 - 217
The Noonan syndrome ( NS ) is an autosomal dominant genetic disorder characterized by short stature, craniofacial dysmorphism, and congenital heart defects. A... 
K‐Ras | cancer | RASopathies | Noonan syndrome | K-Ras | Lymphomas | Genetic disorders | Analysis | Risk factors
Journal Article
Journal Article
Actas Dermo-Sifiliograficas, ISSN 0001-7310, 07/2011, Volume 102, Issue 6, pp. 402 - 416
Proteins belonging to the RAS/mitogen activated protein kinase (MAPK) pathway play key roles in cell proliferation, differentiation, survival, and death. For... 
RAS/Mitogen activated protein kinase pathway | Rasopathies
Journal Article
International journal of molecular sciences, ISSN 1422-0067, 05/2019, Volume 20, Issue 9, p. 2164
Cardiac hypertrophy is an adaptive and compensatory mechanism preserving cardiac output during detrimental stimuli. Nevertheless, long-term stimuli incite... 
ERK pathway | hypertrophic cardiomyopathy | target therapies | RASopathies | adaptive and maladaptive hypertrophy | anthracycline-induced cardiotoxicity
Journal Article
Revista de Neurologia, ISSN 0210-0010, 05/2017, Volume 64, Issue S03, pp. S13 - S17
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 11/2014, Volume 111, Issue 46, pp. 16395 - 16400
Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, craniofacial dysmorphism, and congenital heart defects. NS also... 
SYNDROME REVEALS | heart defects | ACTIVATION | MEK inhibitors | TRAMETINIB | MULTIDISCIPLINARY SCIENCES | MYELOPROLIFERATIVE DISORDER | RASopathies | PTPN11 MUTATION | myeloproliferative disorders | METASTATIC MELANOMA | MOUSE MODEL | DISEASE | KRAS | developmental disorders
Journal Article
Progress in Pediatric Cardiology, ISSN 1058-9813, 2015, Volume 39, Issue 1, pp. 13 - 19
Abstract Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome... 
Pediatrics | Cardiovascular | Hypertrophic cardiomyopathy | RASopathies | Dilated cardiomyopathy | RAS/MAP kinase signal transduction | Noonan syndrome
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2018, Volume 176, Issue 7, pp. 1662 - 1666
Journal Article
Nervenarzt, ISSN 0028-2804, 10/2018, Volume 89, Issue 10, pp. 1131 - 1139
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
Purpose: Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
NOONAN SYNDROME | ClinGen | RASopathy | Noonan | variant interpretation | GUIDELINES | GENETICS & HEREDITY | LABORATORIES | MUTATIONS | Ras/MAPK
Journal Article
Genes & Development, ISSN 0890-9369, 09/2012, Volume 26, Issue 17, pp. 1945 - 1958
In this study, Andreadi et al. dissect the molecular basis for the L597V Braf mutation's role in RASopathies and cancer in mice. They show that L597V Braf... 
Research Paper | cancer | BRAF | RASopathies | oncogene | ERK signaling pathway
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 2083 - 2090
Noonan syndrome (NS) is caused by mutations in more than 10 genes, mainly PTPN11 , SOS1 , RAF1 , and RIT1 . Congenital heart defects and cardiomyopathy (CMP)... 
cardiomyopathy | SOS1 | RASopathies | HYPERTROPHIC CARDIOMYOPATHY | GENOTYPE | DISEASE | GENES | GENETICS & HEREDITY | OF-FUNCTION MUTATIONS | RAF1 | Literature reviews | Noonan's syndrome | Mutation | Cardiomyopathy | Morbidity
Journal Article