Literature DB >> 14569132

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.

B Castle, M E Baser, S M Huson, D N Cooper, M Upadhyaya.   

Abstract

Entities:  

Mesh：

Year:  2003        PMID： 14569132      PMCID： PMC1735293          DOI： 10.1136/jmg.40.10.e109

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


× No keyword cloud information.
  34 in total

1.  Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Authors:  Siân Griffiths; Peter Thompson; Ian Frayling; Meena Upadhyaya
Journal:  Fam Cancer       Date:  2007       Impact factor: 2.375

2.  Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene.

Authors:  W Stewart; J P Traynor; A Cooke; S Griffiths; N F Onen; M Balsitis; A A Shah; M Upadhyaya; E S Tobias
Journal:  Fam Cancer       Date:  2007       Impact factor: 2.375

Review 3.  Understanding intellectual disability through RASopathies.

Authors:  Alvaro San Martín; Mario Rafael Pagani
Journal:  J Physiol Paris       Date:  2014-05-21

4.  NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

Authors:  Apolline Imbard; Eric Pasmant; Audrey Sabbagh; Armelle Luscan; Magali Soares; Philippe Goussard; Hélène Blanché; Ingrid Laurendeau; Salah Ferkal; Michel Vidaud; Stéphane Pinson; Christine Bellanne-Chantelot; Dominique Vidaud; Pierre Wolkenstein; Béatrice Parfait
Journal:  J Hum Genet       Date:  2015-01-29       Impact factor: 3.172

5.  The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.

Authors:  A Pemov; H Li; R Patidar; N F Hansen; S Sindiri; S W Hartley; J S Wei; A Elkahloun; S C Chandrasekharappa; J F Boland; S Bass; J C Mullikin; J Khan; B C Widemann; M R Wallace; D R Stewart
Journal:  Oncogene       Date:  2017-01-09       Impact factor: 9.867

6.  Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.

Authors:  Eungu Kang; Yoon-Myung Kim; Go Hun Seo; Arum Oh; Hee Mang Yoon; Young-Shin Ra; Eun Key Kim; Heyry Kim; Sun-Hee Heo; Gu-Hwan Kim; Mark J Osborn; Jakub Tolar; Han-Wook Yoo; Beom Hee Lee
Journal:  J Hum Genet       Date:  2019-11-28       Impact factor: 3.172

7.  Lisch and the Importance of His Nodules.

Authors:  A Maharaj; V Rs Singh; S A Lalchan
Journal:  West Indian Med J       Date:  2014-09-04       Impact factor: 0.171

8.  Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

Authors:  Shay Ben-Shachar; Shlomi Constantini; Hen Hallevi; Emma K Sach; Meena Upadhyaya; Gareth D Evans; Susan M Huson
Journal:  Eur J Hum Genet       Date:  2012-10-10       Impact factor: 4.246

9.  PTEN dosage is essential for neurofibroma development and malignant transformation.

Authors:  Caroline Gregorian; Jonathan Nakashima; Sarah M Dry; P Leia Nghiemphu; Kate Barzan Smith; Yan Ao; Julie Dang; Gregory Lawson; Ingo K Mellinghoff; Paul S Mischel; Michael Phelps; Luis F Parada; Xin Liu; Michael V Sofroniew; Fritz C Eilber; Hong Wu
Journal:  Proc Natl Acad Sci U S A       Date:  2009-10-21       Impact factor: 11.205

Review 10.  Neurofibromatosis type 1: new insights into neurocognitive issues.

Authors:  Maria T Acosta; Gerard A Gioia; Alcino J Silva
Journal:  Curr Neurol Neurosci Rep       Date:  2006-03       Impact factor: 5.081
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.