LEOPARD syndrome: clinical diagnosis in the first year of life
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Leopard syndromeMultiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11Noonan syndrome: clinical aspects and molecular pathogenesis.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsRapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.Noonan syndrome and clinically related disorders.Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing LossIn vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.Prevalence of Café-au-Lait Spots in children with solid tumors.LEOPARD syndrome with rare skeletal anomalies: A case report.Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice.Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Dermatological manifestations of inherited cancer syndromes in children.The musculoskeletal phenotype of the RASopathies.Approaches to the evaluation of lip hyperpigmentation.Sun-induced freckling: ephelides and solar lentigines.Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathways.RASopathies: Clinical Diagnosis in the First Year of Life.A review of craniofacial and dental findings of the RASopathies.LEOPARD Syndrome: Clinical Features and Gene Mutations.The Management of Cardiovascular Abnormalities in Patient With LEOPARD SyndromePhosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.[Peutz-Jeghers syndrome : not only a polyposis!].A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.Update on Genetic Conditions Affecting the Skin and the Kidneys.
P2860
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P2860
LEOPARD syndrome: clinical diagnosis in the first year of life
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
LEOPARD syndrome: clinical diagnosis in the first year of life
@ast
LEOPARD syndrome: clinical diagnosis in the first year of life
@en
LEOPARD syndrome: clinical diagnosis in the first year of life
@nl
type
label
LEOPARD syndrome: clinical diagnosis in the first year of life
@ast
LEOPARD syndrome: clinical diagnosis in the first year of life
@en
LEOPARD syndrome: clinical diagnosis in the first year of life
@nl
altLabel
LEOPARD syndrome: Clinical diagnosis in the first year of life
@en
prefLabel
LEOPARD syndrome: clinical diagnosis in the first year of life
@ast
LEOPARD syndrome: clinical diagnosis in the first year of life
@en
LEOPARD syndrome: clinical diagnosis in the first year of life
@nl
P2093
P50
P3181
P356
P1476
LEOPARD syndrome: Clinical diagnosis in the first year of life
@en
LEOPARD syndrome: clinical diagnosis in the first year of life
@en
P2093
Andrea de Zorzi
Bruno Marino
M Cristina Digilio
M. Cristina Digilio
Raffaele Calabrò
Rita Mingarelli
P3181
P356
10.1002/AJMG.A.31156
P407
P577
2006-01-01T00:00:00Z
2006-04-01T00:00:00Z