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Wiley电子期刊(1)
NATURE电子期刊(1)
Elsevier电子期刊(22)
SpringerLink电子期刊(9)
GSW全文库(1)
在“
Elsevier电子期刊
”中,
命中:
22
条,耗时:小于0.01 秒
在所有数据库中总计命中:
34
条
1.
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism
作者:
Peter Wang
;
Prescilla Carrion
;
Ying Qiao
;
Christine Tyson
;
Monica Hrynchak
;
Kristina Calli
;
Elena Lopez-Rangel
;
Joris
Andrieux
;
Bruno Delobel
;
B¨¦n¨¦dicte Duban-Bedu
;
Ann-Charlotte Thuresson
;
G?ran Anner¨¦n
;
Xudong Liu
;
Evica Rajcan-Separovic
;
M.E. Suzanne Lewis
关键词:
Autism spectrum disorder (ASD)
;
Epilepsy
;
Intellectual disability (ID)
;
Chromosomal microarray analysis (CMA)
;
Copy number variants (CNVs)
刊名:European Journal of Medical Genetics
出版年:2013
2.
Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma
作者:
Alice Fievet
;
Marc-Antoine Belaud-Rotureau
;
Fr茅d茅ric Dugay
;
Caroline Abadie
;
Catherine Henry
;
Sophie Taque
;
Joris
Andrieux
;
Serge Guyetant
;
Michel Robert
;
Christ猫le Dubourg
;
Christine Edan
;
Nathalie Rioux-Leclercq
;
Sylvie Odent
;
Sylvie Jaillard
关键词:
Wilms tumor
;
Nephroblastomatosis
;
MYCN
;
DDX1
;
2p24.3 duplication
刊名:European Journal of Medical Genetics
出版年:December, 2013
3.
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
作者:
Kerstin Becker
;
Nataliya Di Donato
;
Muriel Holder-Espinasse
;
Joris
Andrieux
;
Jean-Marie Cuisset
;
Louis Vall¨¦e
;
Ghislaine Plessis
;
Nolwenn Jean
;
Bruno Delobel
;
Ann-Charlotte Thuresson
;
G?ran Anner¨¦n
;
Kirstine Ravn
;
Zeynep T¨¹mer
;
Sigrid Tinschert
;
Evelin Schrock
;
Aia Elise J?nch
;
Karl Hackmann
关键词:
6q14 microdeletion syndrome
;
Intellectual disability
;
Mental retardation
;
Array CGH
刊名:European Journal of Medical Genetics
出版年:2012
4.
Quintuplets after a transfer of two embryos following in vitro fertilization: a proved superfecundation
作者:
Maë
;
liss Peigné
;
Joris
Andrieux
;
Philippe Deruelle
;
Isabelle Vuillaume
;
Maryse Leroy
关键词:
Superfecundation
;
quintuplets
;
IVF
;
fetal reduction
;
genetic analysis
刊名:Fertility and Sterility
出版年:2011
5.
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients
作者:
Manuel Schiff
;
André
;
e Delahaye
;
Joris
Andrieux
;
Damien Sanlaville
;
Catherine Vincent-Delorme
;
Azzedine Aboura
;
Brigitte Benzacken
;
Sonia Bouquillon
;
Monique Elmaleh-Berges
;
Audrey Labalme
;
S
;
rine
关键词:
17p 13.3 microdeletion
;
YWHAE
;
Mental retardation
;
Coloboma
;
Chiari type 1 malformation
刊名:European Journal of Medical Genetics
出版年:2010
6.
Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage
作者:
Aurore Perrin
;
Bruno Delobel
;
Joris
Andrieux
;
Philippe Gosset
;
Nadia Gueganic
;
Florence Petit
;
Marc De Braekeleer
;
Fré
;
dé
;
ric Morel
关键词:
Microdeletion
;
array-CGH
;
meiotic segregation
;
recurrent miscarriage
;
translocation
刊名:Fertility and Sterility
出版年:2010
7.
Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features
作者:
Teresinha Leal
;
Joris
Andrieux
;
Bé
;
né
;
dicte Duban-Bedu
;
Sonia Bouquillon
;
Georges-Marie Breviè
;
re
;
Bruno Delobel
关键词:
19q13.32 deletion
;
Mental retardation
;
Cleft lip and palate
;
Tetralogy of fallot
;
Deafness
;
Array-CGH
刊名:European Journal of Medical Genetics
出版年:2009
8.
Deletion 18q21.2q21.32 involving TCF4
作者:
Joris
Andrieux
;
Fré
;
dé
;
ric Lepretre
;
Jean-Marie Cuisset
;
Alice Goldenberg
;
Bruno Delobel
;
Sylvie Manouvrier-Hanu
;
Muriel Holder-Espinasse
关键词:
18q21 Deletion
;
TCF4
;
Pitt–
;
Hopkins syndrome
;
Thick helix
刊名:European Journal of Medical Genetics
出版年:2008
9.
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis
作者:
Joris
Andrieux
;
Jean-Christophe Cuvellier
;
Bé
;
né
;
dicte Duban-Bedu
;
Sylvie Joriot-Chekaf
;
Anne Dieux-Coeslier
;
Sylvie Manouvrier-Hanu
;
Bruno Delobel
;
Louis Vallee
关键词:
Array-CGH
;
1qter Deletion
;
18pter Duplication
;
Microcephaly
;
Simplified gyral pattern
;
Vermis hypoplasia
;
Corpus callosum agenesis
;
AKT3
刊名:European Journal of Medical Genetics
出版年:2008
10.
Characterization by array-CGH of an interstitial de novo
作者:
Joris
Andrieux
;
Steven Richebourg
;
Bé
;
né
;
dicte Duban-Bedu
;
Florence Petit
;
Fré
;
dé
;
ric Leprê
;
tre
;
Sylvie Sukno
;
Marie-Bertille Dehouck
;
Bruno Delobel
关键词:
6p21p22 duplication
;
Array-CGH
;
Epilepsy
刊名:European Journal of Medical Genetics
出版年:2008
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