Literature DB >> 15121796

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

A Sarkozy1, E Conti, M Cristina Digilio, B Marino, E Morini, G Pacileo, M Wilson, R Calabrò, A Pizzuti, B Dallapiccola.   

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Year:  2004        PMID： 15121796      PMCID： PMC1735759          DOI： 10.1136/jmg.2003.013466

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  29 in total

1.  Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.

Authors:  Sarah A Clay; Timothy L Domeier; Laurin M Hanft; Kerry S McDonald; Maike Krenz
Journal:  Am J Physiol Heart Circ Physiol       Date:  2015-02-27       Impact factor: 4.733

2.  Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Authors:  Kamini Kalidas; Adam C Shaw; Andrew H Crosby; Ruth Newbury-Ecob; Lynn Greenhalgh; Isabel K Temple; Caroline Law; Amisha Patel; Michael A Patton; Steve Jeffery
Journal:  J Hum Genet       Date:  2004-12-10       Impact factor: 3.172

3.  PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Authors:  M Cristina Digilio; Anna Sarkozy; Giuseppe Pacileo; Giuseppe Limongelli; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2006-05-30       Impact factor: 3.183

4.  Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.

Authors:  Christian Peter Kratz; Michaela Nathrath; Peter Freisinger; Petra Dressel; Hans-Peter Assmuss; Cornelia Klein; Ayami Yoshimi; Stefan Burdach; Charlotte Marie Niemeyer
Journal:  Eur J Pediatr       Date:  2005-12-21       Impact factor: 3.183

5.  Leopard syndrome: a report of five cases from one family in two generations.

Authors:  Fatima Begić; Husref Tahirović; Mediha Kardašević; Ingrid Kalev; Kai Muru
Journal:  Eur J Pediatr       Date:  2014-01-09       Impact factor: 3.183

6.  LEOPARD Syndrome: Clinical Features and Gene Mutations.

Authors:  E Martínez-Quintana; F Rodríguez-González
Journal:  Mol Syndromol       Date:  2012-08-29

Review 7.  The cardiofaciocutaneous syndrome.

Authors:  A Roberts; J Allanson; S K Jadico; M I Kavamura; J Noonan; J M Opitz; T Young; G Neri
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

8.  LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.

Authors:  Jihyun Kim; Mi Ri Kim; Hee Jung Kim; Kyung-A Lee; Min-Geol Lee
Journal:  Ann Dermatol       Date:  2011-05-27       Impact factor: 1.444

Review 9.  LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

Authors:  Ingrid Kalev; Kai Muru; Rita Teek; Riina Zordania; Tiia Reimand; Kristel Köbas; Katrin Ounap
Journal:  Eur J Pediatr       Date:  2009-09-20       Impact factor: 3.183

10.  Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.

Authors:  Jessica Lauriol; Janel R Cabrera; Ashbeel Roy; Kimberly Keith; Sara M Hough; Federico Damilano; Bonnie Wang; Gabriel C Segarra; Meaghan E Flessa; Lauren E Miller; Saumya Das; Roderick Bronson; Kyu-Ho Lee; Maria I Kontaridis
Journal:  J Clin Invest       Date:  2016-06-27       Impact factor: 14.808
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