Literature DB >> 12960218

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

A Sarkozy, E Conti, D Seripa, M C Digilio, N Grifone, C Tandoi, V M Fazio, V Di Ciommo, B Marino, A Pizzuti, B Dallapiccola.   

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Year:  2003        PMID： 12960218      PMCID： PMC1735592          DOI： 10.1136/jmg.40.9.704

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


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  47 in total

1.  Role of genomics in cardiovascular medicine.

Authors:  Giuseppe Novelli; Irene M Predazzi; Ruggiero Mango; Francesco Romeo; Jawahar L Mehta
Journal:  World J Cardiol       Date:  2010-12-26

2.  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

3.  PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

Authors:  Jung Min Ko; Jae-Min Kim; Gu-Hwan Kim; Han-Wook Yoo
Journal:  J Hum Genet       Date:  2008-11-20       Impact factor: 3.172

4.  Juvenile myelomonocytic leukemia: a report from the 2nd International JMML Symposium.

Authors:  Rebecca J Chan; Todd Cooper; Christian P Kratz; Brian Weiss; Mignon L Loh
Journal:  Leuk Res       Date:  2008-10-26       Impact factor: 3.156

5.  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

6.  Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.

Authors:  Léa Linglart; Bruce D Gelb
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-02-05       Impact factor: 3.908

7.  Aortic root dilatation is a rare complication of Noonan syndrome.

Authors:  Patricia D Power; Mark B Lewin; Mark C Hannibal; Ian A Glass
Journal:  Pediatr Cardiol       Date:  2006-07-06       Impact factor: 1.655

8.  PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.

Authors:  Rebecca J Chan; Gen-Sheng Feng
Journal:  Blood       Date:  2006-10-19       Impact factor: 22.113

9.  Canadian Cardiovascular Society Consensus Conference guidelines on heart failure--2008 update: best practices for the transition of care of heart failure patients, and the recognition, investigation and treatment of cardiomyopathies.

Authors:  J Malcom; O Arnold; Jonathan G Howlett; Anique Ducharme; Justin A Ezekowitz; Martin J Gardner; Nadia Giannetti; Haissam Haddad; George A Heckman; Debra Isaac; Philip Jong; Peter Liu; Elizabeth Mann; Robert S McKelvie; Gordon W Moe; Anna M Svendsen; Ross T Tsuyuki; Kelly O'Halloran; Heather J Ross; Errol J Sequeira; Michel White
Journal:  Can J Cardiol       Date:  2008-01       Impact factor: 5.223

Review 10.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822
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