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BRITISH JOURNAL OF DERMATOLOGY, ISSN 0007-0963, 01/2018, Volume 178, Issue 1, pp. 289 - 291
Journal Article
02/2012
Congenital heart diseases are a major part of Costello and cardio-facio-cutaneous syndromes. Subaortic stenosis was reported rarely and Ross operation never in... 
Costello syndrome | Ross operation | Subaortic stenosis | Cardio-facio-cutaneous syndrome
Web Resource
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 05/2009, Volume 106, Issue 19, pp. 7979 - 7984
We developed mice with germline endogenous expression of oncogenic Hras to study effects on development and mechanisms of tumor initiation. They had high... 
Papilloma | Senescence | Angiosarcoma | Costello syndrome | Allele copy number | senescence | angiosarcoma | Biological Sciences | allele copy number | papilloma
Journal Article
02/2008
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose... 
Costello syndrome | papillomas | Dysmorphic facies | Acanthosis nigricans | HRAS
Web Resource
Ceska Radiologie, ISSN 1210-7883, 12/2015, Volume 69, Issue 4, pp. 275 - 277
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
06/2011
Previous studies suggest that the IGF-I stimulates the elastin gene transcription through the unique responsive sequence on the elastin promoter, which is a... 
Cell proliferation | Sp-1 | Elastin | Retinoblastoma protein | cdk-2 | Costello Syndrome | cdk-4 | Elastin gene promoter | Retinoblastoma control element | Serine 780 | Cyclin E | Threonine 821 | Cyclin D | 0307
Dissertation
Pediatric Dermatology, ISSN 0736-8046, 05/2019, Volume 36, Issue 3, pp. 368 - 371
Woolly hair nevus is a rare syndrome that presents as woolly hair in restricted areas of the scalp and may be associated with pigmented macules or epidermal... 
PEDIATRICS | CANCER | COSTELLO-SYNDROME | DERMATOLOGY | Mole (Dermatology) | Genetic aspects | Hair | Case reports | Mutation | Scalp | Pigmentation | Nevus | Case Report | Case Reports
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Journal Article
Journal Article
Pediatric endocrinology reviews : PER, ISSN 1565-4753, 05/2019, Volume 16, Issue Suppl 2, p. 447
The RASopathies are a group of developmental genetic syndromes that are caused by germline mutations in genes encoding proteins of the Ras-Mitogen-Activated... 
Ectodermal Dysplasia | Noonan Syndrome | Costello Syndrome | ras Proteins | Failure to Thrive | Humans
Journal Article
Journal Article
2013, Volume 1, 3
Reference
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
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
Nature Genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1007 - 1012
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