Results 91 to 100 of about 15,366 (199)

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.

PLoS Genetics
Identifying genes associated with rare diseases remains challenging due to the scarcity of patients and the limited statistical power of traditional association methods. Here, we introduce PERADIGM ( Phenotype Embedding similarity-based RAre DIsease Gene
Wangjie Zheng, Yuhan Xie, Jianlei Gu, Hongyu Li, Stefan Somlo, Whitney Besse, Hongyu Zhao   +6 more
doaj   +1 more source

Identification of differentially expressed genes related to NF1-associated malignant transformation from a patient with neurofibromatosis type 1.

, 2008
Neurofibromatosis type 1 (NF1) is one of the most common inherited autosomal dominant disorders. Malignant peripheral nerve sheet tumors (MPNSTs) represent a major cause of mortality in NF1 patients.
Jeong, SY, Kim, HJ, Park, YY, Han, JH
core  

Neurofibromatosis 2 and Related disorders

The neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis.
Plon, Sharon E, Salvador, Hector, Chang, Vivian Y, Druker, Harriet, Evans, Dafydd; id_orcid, Scott, Hamish S, Tabori, Uri, Voss, Stephen D, Erez, Ayelet   +8 more
core   +1 more source

Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso

, 2011
Neurofibromatosis type-1 is a neuroectodermic genetic condition, where different types of mutations in NF1 gene have been described. Its locus is located at chromosome-17, thousand of genes are mapping, and some of them are found in very near regions ...
Orraca Castillo, Miladys, Sánchez Álvarez de La Campa, Ana Isabel, Licourt Otero, Deysi   +2 more
core   +1 more source

A study of the behaviour and interactions of the novel FERM protein Willin

, 2008
Willin is a novel member of the Four-point-one Ezrin Radixin Moesin (FERM) protein superfamily, containing an N-terminal FERM domain most like the Ezrin-Radixin-Moesin (ERM) family but also the closely related protein Merlin.
Herron, Lissa Rocha
core  

Ganglioneuroblastoma associated with neurofibromatosis type 1: a case report with a systematic review. [PDF]

Front Oncol
Zhang Q, Su S, Geng G, Bai Y, Hu W, Zhang W, Zhang H, Wang G.   +7 more
europepmc   +1 more source

Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]

Neurology Genetics, 2017
Anastasaki, Corina, Le, Lu Q, Kesterson, Robert A, Gutmann, David H   +3 more
openaire   +3 more sources

NF1 and SPRED1/2 cooperate through RAS-MAPK-independent functions. [PDF]

Proc Natl Acad Sci U S A
Silva JM, Canche L, Cheng A, Young LC, McCormick F.   +4 more
europepmc   +1 more source

Neurofibromatosis, Generalidades y Manifestaciones Clínicas Una Revisión Bibliográfica

Neurofibromatosis falls within the category of genetic alterations of a multisystem nature which influence development during fetal life. It is classified into subtypes that are divided according to their characteristics, morphology, location and degree ...
Valero Ortega, Adrian Elías, Hinojoza Remache, Ruth Alexandra, Moreno Carillo, Alyne Betzabe, Burgos Paladines, Antonio Javier   +3 more
core  

Malignant transformation in a patient with type 1 neurofibromatosis: A case report. [PDF]

J Int Med Res
Li S, Hao W, Xue Y.
europepmc   +1 more source