Literature DB >> 31726051

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.

Maud Jordan1, Virginie Carmignac2, Arthur Sorlin3, Paul Kuentz3, Juliette Albuisson4, Luca Borradori5, Emmanuelle Bourrat6, Odile Boute7, Nenad Bukvic8, Anne-Claire Bursztejn9, Christine Chiaverini10, Bruno Delobel11, Marine Fournet12, Jehanne Martel13, Alice Goldenberg14, Smaïl Hadj-Rabia15, Antoine Mahé16, Annabel Maruani17, Juliette Mazereeuw18, Cyril Mignot19, Fanny Morice-Picard20, Marie-Laure Moutard21, Florence Petit7, Justine Pasteur1, Alice Phan22, Sandra Whalen19, Marjolaine Willems23, Christophe Philippe3, Pierre Vabres24.   

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Year:  2019        PMID: 31726051     DOI: 10.1016/j.jid.2019.08.455

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


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  5 in total

1.  Klippel-Trenaunay Syndrome: Case series from a university hospital of Nepal.

Authors:  Robin Man Karmacharya; Satish Vaidya; Swechha Bhatt; Ashish Tamang; Rohit Bhasink Shrestha; Niroj Bhandari; Bijaya Paudel; Manish Shah; Gaurav Nepal
Journal:  Ann Med Surg (Lond)       Date:  2022-05-07

2.  Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Authors:  Andrea Diociaiuti; Roberta Rotunno; Elisa Pisaneschi; Claudia Cesario; Claudia Carnevale; Angelo Giuseppe Condorelli; Massimo Rollo; Stefano Di Cecca; Concetta Quintarelli; Antonio Novelli; Giovanna Zambruno; May El Hachem
Journal:  Biomedicines       Date:  2022-06-20

3.  Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Authors:  Alessandro Mussa; Antonella Turchiano; Simona Cardaropoli; Paola Coppo; Antonino Pantaleo; Rosanna Bagnulo; Carlotta Ranieri; Matteo Iacoviello; Antonella Garganese; Alessandro Stella; Stefano Gabriele Vallero; Daniele Bertin; Federica Santoro; Diana Carli; Giovanni Battista Ferrero; Nicoletta Resta
Journal:  Genes Chromosomes Cancer       Date:  2022-07-16       Impact factor: 4.263

4.  Development of a core outcome domain set for clinical research on capillary malformations (the COSCAM project).

Authors:  G B Langbroek; A Wolkerstorfer; S E R Horbach; P I Spuls; K M Kelly; S J Robertson; M I van Raath; F Al-Niaimi; T Kono; P Boixeda; H J Laubach; A M Badawi; A Troilius Rubin; M Haedersdal; W Manuskiatti; C M A M van der Horst; D T Ubbink
Journal:  J Eur Acad Dermatol Venereol       Date:  2021-06-16       Impact factor: 6.166

Review 5.  Lateralized and Segmental Overgrowth in Children.

Authors:  Alessandro Mussa; Diana Carli; Simona Cardaropoli; Giovanni Battista Ferrero; Nicoletta Resta
Journal:  Cancers (Basel)       Date:  2021-12-07       Impact factor: 6.639

  5 in total

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