about
Leopard syndromeGenetic disorders associated with macrocephalyGrouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMultiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effectsNoonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locusLEOPARD syndrome: clinical diagnosis in the first year of lifeMultiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11Hyperactive Ras in developmental disorders and cancerParaspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesClues in diagnosing congenital heart diseaseApical systolic click and murmur associated with neurofibromatosisDiverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes"Syndrome myxoma": a subset of patients with cardiac myxoma associated with pigmented skin lesions and peripheral and endocrine neoplasms.Premature cataracts associated with generalized lentigoLEOPARD syndrome with a new association of congenital corneal tumor, choristoma.Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutationsThe heart in lentiginosis.Carney complex and lentiginosis'Little leopard' syndrome. Description of 3 cases and review of 24The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.A clinical study of Noonan syndrome.Generalized lentiginosis in two children lacking systemic associations: case report and review of the literature.BRAF gene: From human cancers to developmental syndromes.Noonan syndrome and related disorders: alterations in growth and puberty.The differential diagnosis of familial lentiginosis syndromesPrimary pulmonary hypertension in leopard syndrome.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.Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.Distinct and overlapping functions of ptpn11 genes in Zebrafish development.Heart failure in congenital heart disease: a confluence of acquired and congenital.RASopathies: Clinical Diagnosis in the First Year of Life.New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling.Hereditary congenital severe deafness syndromes.Noonan syndrome. An update and review for the primary pediatrician.Aortic valve stenosis. Management in children and adults.Lentigo.
P2860
Q21202917-307E2E92-9424-41F7-8264-812A2E3E8B8AQ22337413-010C8688-3FB4-47ED-B3D5-E375537CA02CQ24299557-CE204C5D-8836-4EF0-BC67-7922165D177FQ24517931-809FF5A8-11A8-424F-ABC7-902C983FB872Q28288812-5672E4E2-227D-47D9-A2B3-97D952BAD1BFQ28291223-C6028CD6-28CA-4C4C-97D6-19F28C3E46E5Q28300885-03CFDCF0-4619-4F94-8125-F740CAEFDA19Q28302744-07DDC094-FCCA-4237-8794-A5280413EDA6Q29616397-5FF70BBF-7117-4D74-BBD7-8B12A8CEC88EQ30278754-DADABF9F-878C-41BE-8EC5-B29D3796A4FFQ30439033-E83D40D2-7B85-40DF-83CD-6197895E087CQ33152391-4976054D-772F-429A-B45A-76E4001032E7Q33588340-33B8BD6B-A462-4955-8CCA-DE2B5E49621EQ33979110-F1EE07AE-9D5B-4834-9244-72244828FED2Q33999260-48D2F203-D446-44D5-8221-C557DF783649Q34209832-51D28CBE-61A8-463E-A147-C093DAA0FEFAQ34532329-FFA0F2B3-35C9-45BE-AF26-D7CDB6682ACFQ34611774-778439C1-992E-4FAF-85E8-D916DE5EC0EAQ34697615-DA9B239E-66D7-49EA-9770-E60284DF5ABBQ35106673-36E4C3A7-9481-48BE-81BC-6D052E9492D8Q35148505-01E2BE7F-25A4-4EB5-9745-74E90B992951Q35447328-CC8FFC5F-7C8D-42BA-8E47-0C5973348F25Q35627319-1D17C923-3DDB-4085-BE62-A495CCDF3E47Q35743806-0F89FBB1-07A1-439B-92F8-67170ABB755EQ35802430-3A45D597-EA4B-48F7-9EBB-FD0397EAE8E6Q35846971-73C7E024-84B1-4469-AC7D-37F31D956D29Q36158532-8D1CD3F5-A285-4272-8DE7-29E778607FB6Q36784274-BD9B7103-4BD1-435A-ADC9-0B14FC15A853Q37187129-CD5DEED9-BE69-4D50-AB62-901E197CA62BQ37287463-BDF60533-A17B-44C9-963C-0DAAC67B283FQ37558643-A228B8B4-AB38-4C03-90B3-8AAF66A69A0BQ37600774-1FB3D9E4-C9DA-4797-9609-9769DA8A5B78Q37705054-D0E9281B-DD82-4149-B5FB-2145F4F88B30Q38166123-AE83D189-6A20-4458-8E35-FBB1234177E2Q39068707-6EE95C82-DC06-4C63-889C-AC9F54417E17Q39419046-65F6C87D-B963-41A4-9A3A-82EDBCB127AFQ39996944-9A8393A5-F6C7-4C76-982C-B3E75DBEB9EAQ40655730-3E0EDB86-63CE-43AD-BECA-BB081634BA14Q40902410-46C63668-A4A5-47BE-BE59-7F041012AB0BQ41095244-5E634D30-DBDD-4A80-8D1E-A741DF12CF23
P2860
description
1969 nî lūn-bûn
@nan
1969 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1969 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1969年の論文
@ja
1969年論文
@yue
1969年論文
@zh-hant
1969年論文
@zh-hk
1969年論文
@zh-mo
1969年論文
@zh-tw
1969年论文
@wuu
name
Multiple lentigenes syndrome
@ast
Multiple lentigenes syndrome
@en
Multiple lentigenes syndrome
@nl
type
label
Multiple lentigenes syndrome
@ast
Multiple lentigenes syndrome
@en
Multiple lentigenes syndrome
@nl
prefLabel
Multiple lentigenes syndrome
@ast
Multiple lentigenes syndrome
@en
Multiple lentigenes syndrome
@nl
P2093
P1476
Multiple lentigenes syndrome
@en
P2093
P304
P356
10.1001/ARCHPEDI.1969.02100030654006
P407
P577
1969-06-01T00:00:00Z