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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(10)
Elsevier电子期刊(18)
在“
Elsevier电子期刊
”中,
命中:
18
条,耗时:0.0159944 秒
在所有数据库中总计命中:
29
条
1.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
作者:
Francesco Calì
;
a
;
cali@oasi.en.it
;
Valeria Chiavetta
a
;
Giuseppa Ruggeri
a
;
Maria Piccione
b
;
Angelo Selicorni
c
;
d
;
Daniela Palazzo
b
;
Maria Bonsignore
e
;
Anna Cereda
f
;
Maurizio Elia
g
;
Pinella Failla
g
;
Maria Grazia Figura
g
;
Agata Fiumara
h
;
Silvia Maitz
c
;
Giuseppa Maria Luana Mandarà
;
i
;
Teresa Mattina
h
;
Alda Ragalmuto
a
;
Corrado Romano
g
;
Martino Ruggieri
h
;
Roberto Salluzzo
a
;
Antonino Saporoso
e
;
Carmelo Schepis
g
;
Giovanni Sorge
h
;
Maria Spanò
;
e
;
Gaetano Tortorella
e
;
Valentino Romano
j
关键词:
Neurofibromatosis type 1
;
Legius
's
syndrome
;
Next generation sequencing
;
Mosaicism
刊名:European Journal of Medical Genetics
出版年:2017
2.
An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease
作者:
A. Herná
;
ndez-Martí
;
n
a
;
ahernandez_hnj@yahoo.es" class="auth_mail" title="E-mail the corresponding author
;
A. Duat-Rodrí
;
guez
b
关键词:
Neurofibromatosis type 1
;
Cafe-au-lait spots
;
Ephelids
;
Freckling
;
Neurofibroma
;
Legius
syndrome
;
RASopathies
;
LEOPARD
syndrome
;
Albinism
;
Neurofibromin
刊名:Actas Dermo-Sifiliográficas (English Edition)
出版年:2016
3.
Cell type-specific roles of RAS-MAPK signaling in learning and memory: Implications in neurodevelopmental disorders
作者:
Hyun-Hee Ryu
a
;
b
;
Yong-Seok Lee
b
;
yongseok7@snu.ac.kr" class="auth_mail" title="E-mail the corresponding author
关键词:
CFC
;
cardio-facio-cutaneous
;
CS
;
Costello
syndrome
;
FACS
;
fluorescence-activated cell sorting
;
GAPs
;
GTPase activating proteins
;
GEFs
;
guanine nucleotide exchange factors
;
GFP
;
green fluorescent protein
;
HCN
;
hyperpolarization-activated cyclic nucleotide-gated channel
;
iPSCs
;
induced pluripotent stem cells
;
LS
;
Legius
syndrome
;
LTP
;
long-term potentiation
;
MAPK
;
mitogen-activated protein kinase
;
NF
;
neurofibromin
;
NMDA
;
N-methyl-d-aspartate
;
NS
;
Noonan
syndrome
;
NSML
;
Noonan
syndrome
with multip
刊名:Neurobiology of Learning and Memory
出版年:2016
4.
Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature
作者:
Anne Bernier
;
MD
;
MSc
;
Albert Larbrisseau
;
MD
;
Sebastien Perreault
;
MD
;
MSc
;
s.perreault@umontreal.ca" class="auth_mail" title="E-mail the corresponding author
关键词:
neurofibromatosis type 1
;
Recklinghausen disease
;
café
;
-au-lait macules
;
children
;
clinical diagnosis
;
genetic testing
刊名:Pediatric Neurology
出版年:2016
5.
Mosaic Neurocutaneous Disorders and Their Causes
作者:
Martino Ruggieri
;
BA
;
MD
;
PhD
*
;
m.ruggieri@unict.it" class="auth_mail" title="E-mail the corresponding author
;
Andrea D. Praticò
;
MD
*
;
&dagger
;
刊名:Seminars in Pediatric Neurology
出版年:2015
6.
The development of a clinical screening instrument for tumour predisposition
syndrome
s in childhood cancer patients
作者:
Saskia M.J. Hopman
;
Johannes H.M. Merks
;
Corianne A.J.M. de Borgie
;
Cora M. Aalfs
;
Leslie G. Biesecker
;
Trevor Cole
;
Charis Eng
;
Eric
Legius
;
Eamonn R. Maher
;
Max M. van Noesel
;
Alain Verloes
;
David H. Viskochil
;
Anja Wagner
;
Rosanna Weksberg
;
Huib N. Caron
;
Raoul C.M. Hennekam
关键词:
Paediatric oncology
;
Childhood cancer
;
Screening instrument
;
Tumour predisposition
syndrome
s
;
Delphi process
;
Questionnaires
刊名:European Journal of Cancer
出版年:2013
7.
Nevus anemicus in neurofibromatosis type 1: A?potential new diagnostic criterion
作者:
Myriam Marque
;
Agathe Roubertie
;
Audrey Jaussent
;
Maryline Carneiro
;
Laurent Meunier
;
Bernard Guillot
;
Lucile Pinson
;
St¨¦phane Pinson
;
Didier Bessis
关键词:
café
;
-au-lait macules
;
Legius
syndrome
;
neurofibromatosis type 1
;
nevus anemicus
刊名:Journal of the American Academy of Dermatology
出版年:2013
8.
Investigation of gene dosage imbalances in patients with Noonan
syndrome
using multiplex ligation-dependent probe amplification analysis
作者:
Anna-Maja Nyströ
m ;
Sara Ekvall
;
Ann-Charlotte Thuresson
;
Ellen Denayer
;
Eric
Legius
;
Masood Kamali-Moghaddam
;
Bengt Westermark
;
Gö
;
ran Anneré
n ;
Marie-Louise Bondeson
关键词:
MLPA
;
Noonan
syndrome
;
Mutation
;
RAS-MAPK
;
Duplication
;
Deletion
刊名:European Journal of Medical Genetics
出版年:2010
9.
Rasopathies: Developmental Disorders That Predispose to Cancer and Skin Manifestations
作者:
A. Herná
;
ndez-Martí
;
n
;
ahernandez_hnj@yahoo.es
;
A. Torrelo
关键词:
RAS/Mitogen activated protein kinase pathway
;
Rasopathies
刊名:Actas Dermo-Sifiliogr¨¢ficas (English Edition)
出版年:2011
10.
Rasopat¨ªas: trastornos del desarrollo con predisposici¨®n al c¨¢ncer y manifestaciones cut¨¢neas
作者:
A. Herná
;
ndez-Martí
;
n
;
ahernandez_hnj@yahoo.es
;
A. Torrelo
关键词:
Ví
;
a RAS/MAPK
;
Rasopatí
;
as
刊名:Actas Dermo-Sifiliogr¨¢ficas
出版年:2011
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