Literature DB >> 15389709

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

Rie Yoshida, Toshiro Nagai, Tomonobu Hasegawa, Eiichi Kinoshita, Toshiaki Tanaka, Tsutomu Ogata.   

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Year:  2004        PMID： 15389709     DOI： 10.1002/ajmg.a.30281

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  8 in total

1.  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

2.  Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Authors:  Ellen A Croonen; Willy M Nillesen; Kyra E Stuurman; Gretel Oudesluijs; Ingrid M B M van de Laar; Liesbeth Martens; Charlotte Ockeloen; Inge B Mathijssen; Marga Schepens; Martina Ruiterkamp-Versteeg; Hans Scheffer; Brigitte H W Faas; Ineke van der Burgt; Helger G Yntema
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

3.  Recombinant human growth hormone in the treatment of C.836A/G-caused short stature in a girl: a case report and literature review.

Authors:  Xiaoxia Qian; Huangping Zhang; Caixia Xiang
Journal:  Transl Pediatr       Date:  2022-05

Review 4.  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

5.  Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Authors:  Marco Tartaglia; Simone Martinelli; Lorenzo Stella; Gianfranco Bocchinfuso; Elisabetta Flex; Viviana Cordeddu; Giuseppe Zampino; Ineke van der Burgt; Antonio Palleschi; Tamara C Petrucci; Mariella Sorcini; Claudia Schoch; Robin Foa; Peter D Emanuel; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2005-12-07       Impact factor: 11.025

6.  Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Authors:  Daniela Šimčíková; Petr Heneberg
Journal:  Sci Rep       Date:  2019-12-09       Impact factor: 4.379

7.  Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.

Authors:  Marisol Delea; Lucia S Massara; Lucia D Espeche; María Paz Bidondo; Pablo Barbero; Jaen Oliveri; Paloma Brun; Mónica Fabro; Micaela Galain; Cecilia S Fernández; Melisa Taboas; Carlos D Bruque; Jorge E Kolomenski; Agustín Izquierdo; Ariel Berenstein; Viviana Cosentino; Celeste Martinoli; Mariana Vilas; Mónica Rittler; Rodrigo Mendez; Lilian Furforo; Rosa Liascovich; Boris Groisman; Sandra Rozental; Liliana Dain
Journal:  Genes (Basel)       Date:  2022-06-29       Impact factor: 4.141

Review 8.  Leopard syndrome.

Authors:  Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2008-05-27       Impact factor: 4.123
  8 in total

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