X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (203) 203
rasopathies (171) 171
humans (170) 170
rasopathy (137) 137
genetics & heredity (134) 134
noonan syndrome (134) 134
mutation (114) 114
male (101) 101
phenotype (92) 92
female (88) 88
child (59) 59
noonan syndrome - genetics (59) 59
genetic aspects (51) 51
ras (51) 51
child, preschool (46) 46
mutations (46) 46
children (43) 43
costello syndrome (42) 42
signal transduction (42) 42
facio-cutaneous syndrome (41) 41
adolescent (40) 40
article (40) 40
costello-syndrome (40) 40
infant (40) 40
facies (38) 38
gene mutations (36) 36
adult (35) 35
pediatrics (35) 35
proto-oncogene proteins p21 - genetics (35) 35
ras proteins - genetics (35) 35
analysis (34) 34
animals (34) 34
disorders (34) 34
noonan-syndrome (34) 34
of-function mutations (34) 34
cancer (33) 33
germline mutations (33) 33
heart defects, congenital - genetics (33) 33
map kinase (32) 32
hypertrophic cardiomyopathy (31) 31
genetic disorders (30) 30
ptpn11 (30) 30
ectodermal dysplasia - genetics (28) 28
pathway (27) 27
research (27) 27
genes (26) 26
cardiofaciocutaneous syndrome (25) 25
costello syndrome - genetics (25) 25
failure to thrive - genetics (25) 25
genetics (25) 25
genotype (25) 25
ras proteins - metabolism (25) 25
diagnosis (24) 24
neurofibromatosis type 1 (24) 24
cardio-facio-cutaneous syndrome (23) 23
neurofibromatosis type-1 (23) 23
noonan syndrome - diagnosis (23) 23
infant, newborn (22) 22
kinases (22) 22
neurofibromatosis (22) 22
genetic association studies (21) 21
protein tyrosine phosphatase, non-receptor type 11 - genetics (21) 21
ras/mapk (21) 21
spectrum (21) 21
mutation, missense (20) 20
braf (19) 19
cardiomyopathy (19) 19
kras (19) 19
mapk (19) 19
proteins (19) 19
dna mutational analysis (18) 18
juvenile myelomonocytic leukemia (18) 18
cardio‐facio‐cutaneous syndrome (17) 17
loose anagen hair (17) 17
mice (17) 17
neurosciences (17) 17
germ-line mutation (16) 16
hras (16) 16
leopard syndrome (16) 16
ptpn11 mutations (16) 16
ras/mapk pathway (16) 16
risk factors (16) 16
clinical neurology (15) 15
genotype-phenotype correlation (15) 15
intracellular signaling peptides and proteins - genetics (15) 15
leopard-syndrome (15) 15
mutation - genetics (15) 15
young adult (15) 15
cause noonan-syndrome (14) 14
development and progression (14) 14
gene (14) 14
mapk pathway (14) 14
nf1 (14) 14
proto-oncogene proteins p21 - metabolism (14) 14
shoc2 (14) 14
syndrome (14) 14
biochemistry & molecular biology (13) 13
dermatology (13) 13
features (13) 13
genetic research (13) 13
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 195 - 200
RASopathies are a group of phenotypically overlapping disorders that arise from dysregulation of the RAS/MAPK pathway. These disorders include Noonan syndrome,... 
NRAS | embryonal rhabdomyosarcoma | Costello | RASopathy | Noonan
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... 
ClinGen | RASopathy | Ras/MAPK | Noonan | variant interpretation | Genomics | Genes | MAPK | Ras
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1874 - 1880
Journal Article
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery, ISSN 1010-5182, 12/2019
The purpose of the study was the investigation of supernumerary teeth (ST) in the permanent dentition of patients with neurofibromatosis type 1 (NF1). The... 
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 | Genetic Variation | United States | Gene Frequency | Humans | High-Throughput Nucleotide Sequencing | Software | Mutation | Genomics - methods | Genetic Testing - methods | Genome, Human - genetics | Information Dissemination
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2018, Volume 176, Issue 7, pp. 1662 - 1666
Journal Article
European Journal of Obstetrics & Gynecology and Reproductive Biology, ISSN 0301-2115, 09/2019, Volume 240, pp. 232 - 241
Antenatal diagnosis of cardio-facio-cutaneous syndrome: prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. This paper is a... 
Prenatal diagnosis | Fetal facial dysmorphism | RASopathy | Cardio-Facio-Cutaneous syndrome | INDIVIDUALS | NOONAN SYNDROME | REPRODUCTIVE BIOLOGY | CARDIOFACIOCUTANEOUS SYNDROME | DISORDERS | CLINICAL-FEATURES | OBSTETRICS & GYNECOLOGY
Journal Article
JOURNAL OF BIOLOGICAL CHEMISTRY, ISSN 0021-9258, 09/2019, Volume 294, Issue 38, pp. 13964 - 13972
RAS regulation and signaling are largely accomplished by direct protein-protein interactions, making RAS protein dynamics a critical determinant of RAS... 
ONCOGENIC K-RAS | MUTANT | COMPLEX | GTP | RAS | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | Ras protein | FEATURES | X-ray crystallography | SIGNAL-TRANSDUCTION | GTPase Kras (KRAS) | SWITCH-II POCKET | Noonan syndrome | RASopathy | SITES | nucleotide exchange | guanine nucleotide-exchange factor (GEF) | GTPase
Journal Article
Chemicke Listy, ISSN 0009-2770, 2015, Volume 109, Issue 5, pp. 364 - 370
Journal Article
British Journal of Cancer, ISSN 0007-0920, 04/2015, Volume 112, Issue 8, pp. 1392 - 1397
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1628 - 1630
Activation of the RAS pathway through either the activation of genes that accelerate the pathway or the suppression of genes that inhibit the pathway leads to... 
MRAS | RAS | Noonan syndrome | RASopathy | Costello syndrome | GENES | GENETICS & HEREDITY | DISORDERS | MUTATIONS | Genetic aspects | Cancer | Genotype & phenotype | Phenotypes | Noonan's syndrome | Mutation | Genes | Transcription activation
Journal Article
Lymphologie in Forschung und Praxis, ISSN 1433-5255, 12/2015, Volume 19, Issue 2, pp. 92 - 98
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 11/2018, Volume 179, Issue 5, pp. 1163 - 1167
Summary A 17‐year‐old male presented with a large sebaceous naevus (SN) comprising part of his right face and scalp and a speckled lentiginous naevus (SLN) on... 
POSTZYGOTIC HRAS | WELL-DEFINED PHENOTYPES | NEVUS | MUTATION | RASOPATHY | CELL | DERMATOLOGY | Skin | Hyperplasia | Rhabdomyosarcoma | Extracellular signal-regulated kinase | Hip | Scalp | Mosaicism | Neck | Children | Mutation | Deoxyribonucleic acid--DNA | Tumors | Cancer
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2685 - 2690
The RASopathies comprise a group of clinically overlapping developmental syndromes the common pathogenetic basis of which is dysregulated signal flow through... 
Noonan syndrome with multiple lentigines | RASopathy | Noonan syndrome | cardio-facio-cutaneous syndrome | GENETICS & HEREDITY | DUPLICATION | MUTATIONS | copy number variations
Journal Article
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.