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index medicus (61) 61
noonan syndrome (56) 56
humans (52) 52
genetics & heredity (50) 50
mutation (47) 47
female (36) 36
noonan syndrome - genetics (35) 35
male (33) 33
phenotype (31) 31
child (25) 25
rasopathies (25) 25
of-function mutations (24) 24
infant (19) 19
genetic aspects (18) 18
costello-syndrome (17) 17
loose anagen hair (17) 17
child, preschool (16) 16
germline mutations (16) 16
adolescent (15) 15
children (15) 15
noonan syndrome - diagnosis (15) 15
diagnosis (14) 14
gene mutations (14) 14
genes (14) 14
ptpn11 (14) 14
rasopathy (14) 14
shoc2 (14) 14
adult (13) 13
disorders (13) 13
facies (13) 13
facio-cutaneous syndrome (13) 13
germ-line mutation (13) 13
juvenile myelomonocytic leukemia (13) 13
kinases (13) 13
signal transduction (13) 13
map kinase (12) 12
disease (11) 11
infant, newborn (11) 11
intracellular signaling peptides and proteins - genetics (11) 11
spectrum (11) 11
heart defects, congenital - genetics (10) 10
pathway (10) 10
protein tyrosine phosphatase, non-receptor type 11 - genetics (10) 10
proteins (10) 10
ras proteins - genetics (10) 10
costello syndrome (9) 9
noonan-like syndrome with loose anagen hair (9) 9
phenotypes (9) 9
ras-mapk pathway (9) 9
young adult (9) 9
gene (8) 8
genetics (8) 8
genotype (8) 8
hair (8) 8
hypertrophic cardiomyopathy (8) 8
neurofibromatosis type 1 (8) 8
noonan syndrome - pathology (8) 8
pediatrics (8) 8
ras (8) 8
activating mutations (7) 7
age (7) 7
analysis (7) 7
cardiomyopathy (7) 7
cause noonan-syndrome (7) 7
costello syndrome - genetics (7) 7
defects (7) 7
deoxyribonucleic acid--dna (7) 7
genetic association studies (7) 7
genetic disorders (7) 7
genomics (7) 7
noonan syndrome - complications (7) 7
noonan's syndrome (7) 7
phenotypic spectrum (7) 7
prevalence (7) 7
ptpn11 mutations (7) 7
ras proteins - metabolism (7) 7
research (7) 7
animals (6) 6
cancer (6) 6
cardiofaciocutaneous syndrome (6) 6
cohort studies (6) 6
congenital diseases (6) 6
dna mutational analysis (6) 6
ectodermal dysplasia - genetics (6) 6
failure to thrive - genetics (6) 6
features (6) 6
kras (6) 6
leopard syndrome (6) 6
leopard-syndrome (6) 6
leukemia (6) 6
loose anagen hair syndrome - genetics (6) 6
medical research (6) 6
medicine, experimental (6) 6
neurofibromatosis type-1 (6) 6
noonan-like syndrome (6) 6
noonan‐like syndrome with loose anagen hair (6) 6
pedigree (6) 6
base sequence (5) 5
braf mutations (5) 5
cardiomyopathy, hypertrophic - genetics (5) 5
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American journal of medical genetics. Part A, ISSN 1552-4833, 2019, Volume 179, Issue 12, pp. 2474 - 2480
Noonan syndrome‐like disorder with loose anagen hair (NS/LAH) is one of the RASopathies, a group of clinically related developmental disorders caused by germline mutations in genes that encode components acting in the RAS/MAPK pathway... 
ADA2 | SHOC2 | DADA2 | consanguinity | Noonan syndrome‐like disorder with loose anagen hair | Hair | MAP kinase | Noonan's syndrome | Mutation | Fever
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4833, 2018, Volume 176, Issue 7, pp. 1662 - 1666
.... Here, we report a patient with a SHOC2 variant and SLE. The proband was a 28‐year‐old male patient with intellectual disabilities, a short stature, dysmorphic facial features, and thin hair... 
systemic lupus erythematosus | SHOC2 | Noonan syndrome‐like disorder with loose anagen hair 1 | RASopathy | Noonan syndrome-like disorder with loose anagen hair 1 | REVISED CRITERIA | RASOPATHIES | MUTATION | GENETICS & HEREDITY | PHENOTYPE | CLASSIFICATION | Lupus | Systemic lupus erythematosus | Noonan syndrome | Risk factors | Hair | Pain | Cardiomyopathy | Patients | Mental retardation | Prednisolone | Fever | Seizures
Journal Article
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 03/2017, Volume 173, Issue 3, pp. 824 - 828
.... Phenotypically, he also showed the same hair pattern-sparse, thin, and with slow growing-, similar to the typical ectodermal finding observed in Noonan syndrome-like disorder with loose anagen hair... 
PPP1CB | craniosynostosis | LOOSE ANAGEN HAIR | GENETICS & HEREDITY | PPP1CB-related Noonan syndrome with loose anagen hair | RASopathies | Noonan syndrome-like disorder with loose anagen hair
Journal Article
Best Practice & Research Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2011, Volume 25, Issue 1, pp. 161 - 179
Noonan syndrome is a relatively common, clinically variable developmental disorder... 
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
Journal Article
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 2010, Volume 1214, Issue 1, pp. 99 - 121
Journal Article