Literature DB >> 33392635

Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North America.

Alexandre P Garneau1, Ludwig Haydock1, Laurence E Tremblay1, Paul Isenring2.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2021        PMID: 33392635      PMCID: PMC7900069          DOI: 10.1007/s00109-020-02030-6

Source DB:  PubMed          Journal:  J Mol Med (Berl)        ISSN: 0946-2716            Impact factor:   4.599


× No keyword cloud information.
  6 in total

1.  Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.

Authors:  Sergey I Nikolaev; Sandra Vetiska; Ximena Bonilla; Emilie Boudreau; Suvi Jauhiainen; Behnam Rezai Jahromi; Nadiya Khyzha; Peter V DiStefano; Santeri Suutarinen; Tim-Rasmus Kiehl; Vitor Mendes Pereira; Alexander M Herman; Timo Krings; Hugo Andrade-Barazarte; Takyee Tung; Taufik Valiante; Gelareh Zadeh; Mike Tymianski; Tuomas Rauramaa; Seppo Ylä-Herttuala; Joshua D Wythe; Stylianos E Antonarakis; Juhana Frösen; Jason E Fish; Ivan Radovanovic
Journal:  N Engl J Med       Date:  2018-01-03       Impact factor: 91.245

2.  Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial.

Authors:  Mary Kay Koenig; Cynthia S Bell; Adelaide A Hebert; Joan Roberson; Joshua A Samuels; John M Slopis; Patti Tate; Hope Northrup
Journal:  JAMA Dermatol       Date:  2018-07-01       Impact factor: 10.282

3.  Alpelisib for PIK3CA-Mutated, Hormone Receptor-Positive Advanced Breast Cancer.

Authors:  Fabrice André; Eva Ciruelos; Gabor Rubovszky; Mario Campone; Sibylle Loibl; Hope S Rugo; Hiroji Iwata; Pierfranco Conte; Ingrid A Mayer; Bella Kaufman; Toshinari Yamashita; Yen-Shen Lu; Kenichi Inoue; Masato Takahashi; Zsuzsanna Pápai; Anne-Sophie Longin; David Mills; Celine Wilke; Samit Hirawat; Dejan Juric
Journal:  N Engl J Med       Date:  2019-05-16       Impact factor: 91.245

4.  RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Authors:  Nicole Revencu; Laurence M Boon; Antonella Mendola; Maria Rosa Cordisco; Josée Dubois; Philippe Clapuyt; Frank Hammer; David J Amor; Alan D Irvine; Eulalia Baselga; Anne Dompmartin; Samira Syed; Ana Martin-Santiago; Lesley Ades; Felicity Collins; Janine Smith; Sarah Sandaradura; Victoria R Barrio; Patricia E Burrows; Francine Blei; Mariarosaria Cozzolino; Nicola Brunetti-Pierri; Asuncion Vicente; Marc Abramowicz; Julie Désir; Catheline Vilain; Wendy K Chung; Ashley Wilson; Carol A Gardiner; Yim Dwight; David J E Lord; Leona Fishman; Cheryl Cytrynbaum; Sarah Chamlin; Fred Ghali; Yolanda Gilaberte; Shelagh Joss; Maria Del C Boente; Christine Léauté-Labrèze; Marie-Ange Delrue; Susan Bayliss; Loreto Martorell; Maria-Antonia González-Enseñat; Juliette Mazereeuw-Hautier; Brid O'Donnell; Didier Bessis; Reed E Pyeritz; Aicha Salhi; Oon T Tan; Orli Wargon; John B Mulliken; Miikka Vikkula
Journal:  Hum Mutat       Date:  2013-10-10       Impact factor: 4.878

5.  Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Authors:  Quitterie Venot; Thomas Blanc; Smail Hadj Rabia; Laureline Berteloot; Sophia Ladraa; Jean-Paul Duong; Estelle Blanc; Simon C Johnson; Clément Hoguin; Olivia Boccara; Sabine Sarnacki; Nathalie Boddaert; Stephanie Pannier; Frank Martinez; Sato Magassa; Junna Yamaguchi; Bertrand Knebelmann; Pierre Merville; Nicolas Grenier; Dominique Joly; Valérie Cormier-Daire; Caroline Michot; Christine Bole-Feysot; Arnaud Picard; Véronique Soupre; Stanislas Lyonnet; Jeremy Sadoine; Lotfi Slimani; Catherine Chaussain; Cécile Laroche-Raynaud; Laurent Guibaud; Christine Broissand; Jeanne Amiel; Christophe Legendre; Fabiola Terzi; Guillaume Canaud
Journal:  Nature       Date:  2018-06-13       Impact factor: 49.962

Review 6.  Overgrowth syndromes - clinical and molecular aspects and tumour risk.

Authors:  Frédéric Brioude; Annick Toutain; Eloise Giabicani; Edouard Cottereau; Valérie Cormier-Daire; Irene Netchine
Journal:  Nat Rev Endocrinol       Date:  2019-05       Impact factor: 43.330

  6 in total
  5 in total

Review 1.  Targeted treatment of vascular anomalies.

Authors:  Ashley T Ng; Richard L Tower; Beth A Drolet
Journal:  Int J Womens Dermatol       Date:  2021-11-02

2.  Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.

Authors:  Gabriel Morin; Caroline Degrugillier-Chopinet; Marie Vincent; Antoine Fraissenon; Hélène Aubert; Célia Chapelle; Clément Hoguin; François Dubos; Benoit Catteau; Florence Petit; Aurélie Mezel; Olivia Domanski; Guillaume Herbreteau; Marie Alesandrini; Nathalie Boddaert; Nathalie Boutry; Christine Broissand; Tianxiang Kevin Han; Fabrice Branle; Sabine Sarnacki; Thomas Blanc; Laurent Guibaud; Guillaume Canaud
Journal:  J Exp Med       Date:  2022-01-26       Impact factor: 17.579

3.  The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.

Authors:  Wei-Liang Chen; Emily Pao; James Owens; Ian Glass; Colin Pritchard; Brain H Shirts; Christina Lockwood; Ghayda M Mirzaa
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-04-28

4.  Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options?

Authors:  Alexandre P Garneau; Ludwig Haydock; Laurence E Tremblay; Pierre-Luc Harvey-Michaud; Yun-Hua Esther Hsiao; Samuel P Strom; Guillaume Canaud; Paul Isenring
Journal:  J Mol Med (Berl)       Date:  2022-06-03       Impact factor: 5.606

Review 5.  A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

Authors:  Guillaume Canaud; Adrienne M Hammill; Denise Adams; Miikka Vikkula; Kim M Keppler-Noreuil
Journal:  Orphanet J Rare Dis       Date:  2021-07-08       Impact factor: 4.123

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.