Literature DB >> 16804887

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.

Katherine A Rauen1.   

Abstract

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Year:  2006        PMID： 16804887     DOI： 10.1002/ajmg.a.31315

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


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  10 in total

Review 1.  Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Authors:  Mary Ella M Pierpont; Pilar L Magoulas; Saleh Adi; Maria Ines Kavamura; Giovanni Neri; Jacqueline Noonan; Elizabeth I Pierpont; Kent Reinker; Amy E Roberts; Suma Shankar; Joseph Sullivan; Melinda Wolford; Brenda Conger; Molly Santa Cruz; Katherine A Rauen
Journal:  Pediatrics       Date:  2014-09-01       Impact factor: 7.124

2.  Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Authors:  Martin Zenker; Katarina Lehmann; Anna Leana Schulz; Helmut Barth; Dagmar Hansmann; Rainer Koenig; Rudolf Korinthenberg; Martina Kreiss-Nachtsheim; Peter Meinecke; Susanne Morlot; Stefan Mundlos; Anne S Quante; Salmo Raskin; Dirk Schnabel; Lars-Erik Wehner; Christian P Kratz; Denise Horn; Kerstin Kutsche
Journal:  J Med Genet       Date:  2006-10-20       Impact factor: 6.318

3.  A Novel SHOC2 Variant in Rasopathy.

Authors:  Vickie Hannig; Myoungkun Jeoung; Eun Ryoung Jang; John A Phillips; Emilia Galperin
Journal:  Hum Mutat       Date:  2014-09-11       Impact factor: 4.878

4.  Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus.

Authors:  Stephanie Lenet; Constantin Polychronakos
Journal:  BMJ Case Rep       Date:  2019-06-18

5.  Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Authors:  Débora Romeo Bertola; Alexandre Costa Pereira; Amanda Salem Brasil; Lilian Maria José Albano; Chong Ae Kim; José Eduardo Krieger
Journal:  J Hum Genet       Date:  2007-04-28       Impact factor: 3.172

6.  Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Authors:  Anna Sarkozy; Claudio Carta; Sonia Moretti; Giuseppe Zampino; Maria C Digilio; Francesca Pantaleoni; Anna Paola Scioletti; Giorgia Esposito; Viviana Cordeddu; Francesca Lepri; Valentina Petrangeli; Maria L Dentici; Grazia M S Mancini; Angelo Selicorni; Cesare Rossi; Laura Mazzanti; Bruno Marino; Giovanni B Ferrero; Margherita Cirillo Silengo; Luigi Memo; Franco Stanzial; Francesca Faravelli; Liborio Stuppia; Efisio Puxeddu; Bruce D Gelb; Bruno Dallapiccola; Marco Tartaglia
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

7.  Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Authors:  Caroline Nava; Nadine Hanna; Caroline Michot; Sabrina Pereira; Nathalie Pouvreau; Tetsuya Niihori; Yoko Aoki; Yoichi Matsubara; Benoit Arveiler; Didier Lacombe; Eric Pasmant; Béatrice Parfait; Clarisse Baumann; Delphine Héron; Sabine Sigaudy; Annick Toutain; Marlène Rio; Alice Goldenberg; Bruno Leheup; Alain Verloes; Hélène Cavé
Journal:  J Med Genet       Date:  2007-08-17       Impact factor: 6.318

Review 8.  An unexpected new role of mutant Ras: perturbation of human embryonic development.

Authors:  Christian P Kratz; Charlotte M Niemeyer; Martin Zenker
Journal:  J Mol Med (Berl)       Date:  2007-01-09       Impact factor: 4.599

9.  Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Authors:  Corina Anastasaki; Anne L Estep; Richard Marais; Katherine A Rauen; E Elizabeth Patton
Journal:  Hum Mol Genet       Date:  2009-04-17       Impact factor: 6.150

10.  Diagnostically relevant facial gestalt information from ordinary photos.

Authors:  Quentin Ferry; Julia Steinberg; Caleb Webber; David R FitzPatrick; Chris P Ponting; Andrew Zisserman; Christoffer Nellåker
Journal:  Elife       Date:  2014-06-24       Impact factor: 8.140
  10 in total

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