Literature DB >> 5173334

The Leopard (multiple lentigines) syndrome revisited.

R J Gorlin, R C Anderson, J H Moller.   

Abstract

The Leopard syndrome, an acronym, consists of the following features: L-lentigines (multiple), E-electrocardiographic abnormalities, O-ocular hypertelorism, P-pulmonary stenosis, A-abnormalities of genitalia, R-retardation of growth and D-deafness (sensorineural). In addition to the lentigines a few large dark café-noir spots may be scattered over the trunk. Electrocardiographic abnormalities include the S1, S2, S3 pattern and frequently there is pulmonary valvular dysplasia characterized by a pulmonary systolic ejection murmur but no ejection click. Some patients have had subaortic or subpulmonic defects. Others have had atrial septal defect. Hypospadias, cryptorchidism or absence of one ovary has been found. The syndrome is inherited as an autosomal dominant trait.

Entities:  

Mesh:

Year:  1971        PMID: 5173334

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  17 in total

1.  Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

Authors:  B D Coppin; I K Temple
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

Review 3.  The neural crest in cardiac congenital anomalies.

Authors:  Anna Keyte; Mary Redmond Hutson
Journal:  Differentiation       Date:  2012-05-15       Impact factor: 3.880

4.  Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.

Authors:  Talita M Marin; Kimberly Keith; Benjamin Davies; David A Conner; Prajna Guha; Demetrios Kalaitzidis; Xue Wu; Jessica Lauriol; Bo Wang; Michael Bauer; Roderick Bronson; Kleber G Franchini; Benjamin G Neel; Maria I Kontaridis
Journal:  J Clin Invest       Date:  2011-02-21       Impact factor: 14.808

Review 5.  PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

Authors:  Jessica Lauriol; Maria I Kontaridis
Journal:  Trends Cardiovasc Med       Date:  2011-05       Impact factor: 6.677

Review 6.  Lymphatic fate specification: an ERK-controlled transcriptional program.

Authors:  Pengchun Yu; Joe K Tung; Michael Simons
Journal:  Microvasc Res       Date:  2014-08-15       Impact factor: 3.514

Review 7.  Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Authors:  Marco Tartaglia; Bruce D Gelb
Journal:  Ann N Y Acad Sci       Date:  2010-10-19       Impact factor: 5.691

8.  Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.

Authors:  Xonia Carvajal-Vergara; Ana Sevilla; Sunita L D'Souza; Yen-Sin Ang; Christoph Schaniel; Dung-Fang Lee; Lei Yang; Aaron D Kaplan; Eric D Adler; Roye Rozov; Yongchao Ge; Ninette Cohen; Lisa J Edelmann; Betty Chang; Avinash Waghray; Jie Su; Sherly Pardo; Klaske D Lichtenbelt; Marco Tartaglia; Bruce D Gelb; Ihor R Lemischka
Journal:  Nature       Date:  2010-06-10       Impact factor: 49.962

9.  [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].

Authors:  U G Froster; H-J Glander; W Heinritz
Journal:  Hautarzt       Date:  2003-12       Impact factor: 0.751

10.  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.

Authors:  Maria I Kontaridis; Wentian Yang; Kendra K Bence; Darragh Cullen; Bo Wang; Natalya Bodyak; Qingen Ke; Aleksander Hinek; Peter M Kang; Ronglih Liao; Benjamin G Neel
Journal:  Circulation       Date:  2008-03-03       Impact factor: 29.690

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.