Literature DB >> 15520399

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

B Keren1, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, O Boute, D Gaillard, D Lacombe, V Layet, S Marlin, G Mortier, A Toutain, C Beylot, C Baumann, A Verloes, H Cavé.   

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Year:  2004        PMID： 15520399      PMCID： PMC1735627          DOI： 10.1136/jmg.2004.021451

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


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  19 in total

1.  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

2.  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

Review 3.  Regulatory Mechanisms and Novel Therapeutic Targeting Strategies for Protein Tyrosine Phosphatases.

Authors:  Zhi-Hong Yu; Zhong-Yin Zhang
Journal:  Chem Rev       Date:  2017-05-25       Impact factor: 60.622

4.  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

5.  Protein tyrosine phosphatase Shp2 (Ptpn11) plays an important role in maintenance of chromosome stability.

Authors:  Xia Liu; Hong Zheng; Cheng-Kui Qu
Journal:  Cancer Res       Date:  2012-08-13       Impact factor: 12.701

Review 6.  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

Review 7.  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

8.  LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity.

Authors:  Mylène Tajan; Aurélie Batut; Thomas Cadoudal; Simon Deleruyelle; Sophie Le Gonidec; Céline Saint Laurent; Maëlle Vomscheid; Estelle Wanecq; Karine Tréguer; Audrey De Rocca Serra-Nédélec; Claire Vinel; Marie-Adeline Marques; Joffrey Pozzo; Oksana Kunduzova; Jean-Pierre Salles; Maithé Tauber; Patrick Raynal; Hélène Cavé; Thomas Edouard; Philippe Valet; Armelle Yart
Journal:  Proc Natl Acad Sci U S A       Date:  2014-10-06       Impact factor: 11.205

9.  A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

Authors:  Jill A Fahrner; Aisha Frazier; Suha Bachir; Michael F Walsh; Carolyn D Applegate; Reid Thompson; Marc K Halushka; Anne M Murphy; Meral Gunay-Aygun
Journal:  Am J Med Genet A       Date:  2012-05-14       Impact factor: 2.802

10.  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
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