Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
about
Insight into the pathogenesis and nature of Central Giant Cell Lesions of the JawsNoonan syndrome: clinical aspects and molecular pathogenesis.SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsNoonan syndrome and clinically related disorders.Cardio-facio-cutaneous syndrome: does genotype predict phenotype?SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsBRAF gene: From human cancers to developmental syndromes.Clinical and radiological features of nonfamilial cherubism: A case report.Atrioventricular canal defect in patients with RASopathies.PAR-4 as a possible new target for pancreatic cancer therapy.Mammalian son of sevenless Guanine nucleotide exchange factors: old concepts and new perspectives.Giant cell lesions of the craniofacial bonesExtensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.Chronic pain in Noonan Syndrome: A previously unreported but common symptom.Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.Orphan disease: Cherubism, optic atrophy, and short stature.
P2860
Q26824902-C0A08EF2-3DB7-4770-A79E-28EBA7DD5788Q33806161-2A787873-30B6-44E5-B027-AD1FA2CD475FQ34327160-A0A4F0C5-DBD3-4D22-B3FE-C00615E22FA9Q34440570-E4A17D88-1EAA-425E-A98B-B5669101A803Q34678373-B378151A-CFA7-439E-8DAE-91A2FC806543Q34906349-6315D590-5175-4EF8-8DB7-41A2AE49F06BQ35056507-B2115983-0036-4053-9D58-A55A2AC7A043Q35802430-27049E45-C697-4FC7-93D8-4434019F7D94Q36248600-3271E2C6-60EC-4ABF-89D3-864B820D066BQ36543055-211C7397-93A1-41AF-BD70-DC1F1C639752Q37738894-D7BB716C-935B-458B-88BA-384FA0A1C339Q37903698-185CF79F-1C7D-473E-9668-6C92133835F9Q38269588-DB3AD1A8-A257-46CA-B771-15830D4E5900Q52537178-902EB61C-2553-4A9C-A35D-862D2E8E5F7FQ52739043-E3CA4AEC-DABF-4A9F-8F4A-848F76192AC1Q53064781-6F6847F0-B307-4FF1-9416-A91FB696C84AQ53150017-7D953FD9-BCF1-4F56-9146-CED51194EBA9Q55215667-416A2A81-0332-4405-B6F7-5FA784AF05C7
P2860
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@ast
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@en
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@nl
type
label
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@ast
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@en
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@nl
prefLabel
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@ast
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@en
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@nl
P2093
P2860
P50
P356
P1476
Multiple giant cell lesions in ...... ardio-facio-cutaneous syndrome
@en
P2093
Andreas Tzschach
Beate Albrecht
Bronwyn Kerr
Gabriele Krüger
Giovanni Neri
Hartmut Peters
Ines Kavamura
Jacqueline Noonan
Judith Allanson
Kate Gibson
P2860
P2888
P304
P356
10.1038/EJHG.2008.188
P50
P577
2008-10-15T00:00:00Z
P5875
P6179
1043558550