Literature DB >> 14569134

PTEN hamartoma tumour syndrome: variability of an entity.

J H M Merks, L S de Vries, X-P Zhou, P Nikkels, P G Barth, C Eng, R C M Hennekam.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 14569134      PMCID： PMC1735291          DOI： 10.1136/jmg.40.10.e111

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


× No keyword cloud information.
  12 in total

1.  De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Authors:  Jeong Ho Lee; My Huynh; Jennifer L Silhavy; Sangwoo Kim; Tracy Dixon-Salazar; Andrew Heiberg; Eric Scott; Vineet Bafna; Kiley J Hill; Adrienne Collazo; Vincent Funari; Carsten Russ; Stacey B Gabriel; Gary W Mathern; Joseph G Gleeson
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330

2.  PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Authors:  Laura A Jansen; Ghayda M Mirzaa; Gisele E Ishak; Brian J O'Roak; Joseph B Hiatt; William H Roden; Sonya A Gunter; Susan L Christian; Sarah Collins; Carissa Adams; Jean-Baptiste Rivière; Judith St-Onge; Jeffrey G Ojemann; Jay Shendure; Robert F Hevner; William B Dobyns
Journal:  Brain       Date:  2015-02-25       Impact factor: 13.501

3.  PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?

Authors:  Lamis Yehia; Charis Eng
Journal:  Hum Mol Genet       Date:  2020-10-20       Impact factor: 6.150

4.  Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Authors:  Ghayda M Mirzaa; Catarina D Campbell; Nadia Solovieff; Carleton Goold; Laura A Jansen; Suchithra Menon; Andrew E Timms; Valerio Conti; Jonathan D Biag; Carissa Adams; Evan August Boyle; Sarah Collins; Gisele Ishak; Sandra Poliachik; Katta M Girisha; Kit San Yeung; Brian Hon Yin Chung; Elisa Rahikkala; Sonya A Gunter; Sharon S McDaniel; Colleen Forsyth Macmurdo; Jonathan A Bernstein; Beth Martin; Rebecca Leary; Scott Mahan; Shanming Liu; Molly Weaver; Michael Doerschner; Shalini Jhangiani; Donna M Muzny; Eric Boerwinkle; Richard A Gibbs; James R Lupski; Jay Shendure; Russell P Saneto; Edward J Novotny; Christopher J Wilson; William R Sellers; Michael Morrissey; Robert F Hevner; Jeffrey G Ojemann; Renzo Guerrini; Leon O Murphy; Wendy Winckler; William B Dobyns
Journal:  JAMA Neurol       Date:  2016-07-01       Impact factor: 18.302

5.  Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients.

Authors:  R Bhargava; K J Au Yong; N Leonard
Journal:  AJNR Am J Neuroradiol       Date:  2013-08-01       Impact factor: 3.825

Review 6.  PTEN-opathies: from biological insights to evidence-based precision medicine.

Authors:  Lamis Yehia; Joanne Ngeow; Charis Eng
Journal:  J Clin Invest       Date:  2019-01-07       Impact factor: 14.808

7.  Rapamycin prevents, but does not reverse, aberrant migration in Pten knockout neurons.

Authors:  Stephanie A Getz; Tyrone DeSpenza; Meijie Li; Bryan W Luikart
Journal:  Neurobiol Dis       Date:  2016-03-15       Impact factor: 5.996

8.  Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.

Authors:  Radhika Dhamija; Steven M Weindling; Alyx B Porter; Leland S Hu; Christopher P Wood; Joseph M Hoxworth
Journal:  Neurol Clin Pract       Date:  2018-06

9.  Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53.

Authors:  Eleonora Napoli; Catherine Ross-Inta; Sarah Wong; Connie Hung; Yasuko Fujisawa; Danielle Sakaguchi; James Angelastro; Alicja Omanska-Klusek; Robert Schoenfeld; Cecilia Giulivi
Journal:  PLoS One       Date:  2012-08-10       Impact factor: 3.240

10.  PTEN somatic mutations contribute to spectrum of cerebral overgrowth.

Authors:  Daniel C Koboldt; Katherine E Miller; Anthony R Miller; Jocelyn M Bush; Sean McGrath; Kristen Leraas; Erin Crist; Summer Fair; Wesley Schwind; Saranga Wijeratne; James Fitch; Jeffrey Leonard; Ammar Shaikhouni; Mark E Hester; Vincent Magrini; Mai-Lan Ho; Christopher R Pierson; Richard K Wilson; Adam P Ostendorf; Elaine R Mardis; Tracy A Bedrosian
Journal:  Brain       Date:  2021-11-29       Impact factor: 15.255
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.