X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (443) 443
Publication (56) 56
Book Chapter (6) 6
Newsletter (3) 3
Book Review (2) 2
Dissertation (2) 2
Conference Proceeding (1) 1
Journal / eJournal (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (304) 304
leopard syndrome (223) 223
index medicus (189) 189
male (168) 168
female (130) 130
leopard-syndrome (129) 129
mutation (129) 129
leopard syndrome - genetics (127) 127
noonan syndrome (127) 127
noonan syndrome - genetics (110) 110
protein tyrosine phosphatase, non-receptor type 11 - genetics (104) 104
genetics & heredity (97) 97
phenotype (89) 89
child (88) 88
noonan-syndrome (81) 81
ptpn11 (76) 76
adult (73) 73
animals (73) 73
adolescent (70) 70
leopard syndrome - diagnosis (62) 62
hypertrophic cardiomyopathy (59) 59
child, preschool (58) 58
ptpn11 mutations (51) 51
dermatology (47) 47
genetic aspects (47) 47
of-function mutations (46) 46
infant (44) 44
leopard syndrome - complications (42) 42
pediatrics (42) 42
mutations (41) 41
protein-tyrosine-phosphatase (41) 41
signal transduction (39) 39
gene (38) 38
protein tyrosine phosphatase, non-receptor type 11 (38) 38
protein tyrosine phosphatase, non-receptor type 11 - metabolism (38) 38
protein tyrosine phosphatases - genetics (38) 38
ptpn11 gene (38) 38
cardiac & cardiovascular systems (37) 37
costello-syndrome (36) 36
dna mutational analysis (36) 36
mutation, missense (35) 35
facio-cutaneous syndrome (33) 33
mice (33) 33
noonan syndrome - diagnosis (33) 33
diagnosis, differential (32) 32
gene mutations (32) 32
leopard syndrome - pathology (31) 31
ras proteins - genetics (31) 31
biochemistry & molecular biology (30) 30
cell biology (30) 30
intracellular signaling peptides and proteins - genetics (30) 30
juvenile myelomonocytic leukemia (30) 30
middle aged (30) 30
article (29) 29
germline mutations (29) 29
genotype (28) 28
multiple lentigines syndrome (27) 27
syndrome (27) 27
risk factors (26) 26
cardiomyopathy (25) 25
diagnosis (25) 25
costello syndrome (24) 24
cardiomyopathy, hypertrophic - genetics (23) 23
children (23) 23
genetics (23) 23
heart defects, congenital - genetics (23) 23
lentigines (23) 23
noonan syndrome - pathology (23) 23
cause noonan-syndrome (22) 22
leopard syndromes (22) 22
research (22) 22
shp-2 (22) 22
disorders (21) 21
kinases (21) 21
lentiginosis (21) 21
map kinase signaling system - genetics (21) 21
rasopathy (21) 21
spectrum (21) 21
germ-line mutation (20) 20
proteins (20) 20
rasopathies (20) 20
shp2 (20) 20
abnormalities, multiple - genetics (19) 19
genetic disorders (19) 19
leopard syndrome - physiopathology (19) 19
noonan syndrome - complications (19) 19
noonan syndrome - metabolism (19) 19
somatic ptpn11 mutations (19) 19
young adult (19) 19
activation (18) 18
genotype-phenotype correlation (18) 18
mouse model (18) 18
neurofibromatosis (18) 18
proto-oncogene proteins c-raf - genetics (18) 18
ras (18) 18
tyrosine-phosphatase shp-2 (18) 18
analysis (17) 17
cardiofaciocutaneous syndrome (17) 17
health aspects (17) 17
mutations cause noonan (17) 17
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (378) 378
Spanish (21) 21
German (18) 18
Korean (10) 10
French (9) 9
Italian (4) 4
Japanese (2) 2
Portuguese (2) 2
Russian (2) 2
Turkish (2) 2
Czech (1) 1
Danish (1) 1
Norwegian (1) 1
Polish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
Clinical and Experimental Dermatology, ISSN 0307-6938, 04/2018, Volume 43, Issue 3, pp. 357 - 359
Click here for the corresponding questions to this CME article. 
LEOPARD-SYNDROME | DERMATOLOGY | Craniosynostosis
Journal Article
Dermatology practical & conceptual, ISSN 2160-9381, 01/2018, Volume 8, Issue 1, p. 59
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as... 
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 01/2016, Volume 61, Issue 1, pp. 33 - 39
Journal Article
Indian Journal of Dermatology, Venereology, and Leprology, ISSN 0378-6323, 01/2016, Volume 82, Issue 1, p. 77
Journal Article
Nature, ISSN 0028-0836, 06/2010, Volume 465, Issue 7299, pp. 808 - 812
Journal Article
Journal of Shanghai Jiaotong University (Medical Science), ISSN 1674-8115, 02/2015, Volume 35, Issue 2, pp. 295 - 300
Journal Article
Current Opinion in Genetics & Development, ISSN 0959-437X, 2009, Volume 19, Issue 3, pp. 230 - 236
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 01/2016, Volume 82, Issue 1, pp. 77 - 79
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1007 - 1012
Journal Article
British Journal of Cancer, ISSN 0007-0920, 04/2015, Volume 112, Issue 8, pp. 1392 - 1397
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2010, Volume 1, Issue 1, pp. 2 - 26
Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced... 
Review Article | Cardiofaciocutaneous syndrome | Genotype-phenotype correlations | Neurocardiofacialcutaneous syndrome family | Noonan syndrome | Costello syndrome | Molecular epidemiology | Molecular basis of disease | Mutation analysis | LEOPARD syndrome | RAS signaling | Review
Journal Article