Danielle Martinet
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Explore the profile of Danielle Martinet including associated specialties, affiliations and a list of published articles.
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28
Citations
1163
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Recent Articles
1.
Fellmann F, Angelini F, Wassenberg J, Perreau M, Arenas Ramirez N, Simon G, et al.
J Allergy Clin Immunol
. 2015 Nov;
137(4):1189-1196.e2.
PMID: 26607704
Background: Data on patients affected by chronic mucocutaneous candidiasis underscore the preponderant role of IL-17 receptor A (IL-17RA) in preserving mucocutaneous immunity. Little is known about the role of adenosine...
2.
Zhao M, Andrieu-Soler C, Kowalczuk L, Cortes M, Berdugo M, Dernigoghossian M, et al.
J Neurosci
. 2015 Apr;
35(15):6093-106.
PMID: 25878282
We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal...
3.
Droz-Georget Lathion S, Rochat A, Knott G, Recchia A, Martinet D, Benmohammed S, et al.
EMBO Mol Med
. 2015 Mar;
7(4):380-93.
PMID: 25724200
There is a widespread agreement from patient and professional organisations alike that the safety of stem cell therapeutics is of paramount importance, particularly for ex vivo autologous gene therapy. Yet...
4.
Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache C, et al.
Am J Med Genet A
. 2013 Dec;
164A(2):346-52.
PMID: 24376213
Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes...
5.
Capobianco S, Lava S, Bianchetti M, Martinet D, Belfiore M, Ramelli G, et al.
Dev Med Child Neurol
. 2013 Nov;
56(3):290.
PMID: 24266756
No abstract available.
6.
Dauber A, Golzio C, Guenot C, Jodelka F, Kibaek M, Kjaergaard S, et al.
Am J Hum Genet
. 2013 Oct;
93(5):798-811.
PMID: 24140112
Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental delay,...
7.
Walters R, Coin L, Ruokonen A, de Smith A, El-Sayed Moustafa J, Jacquemont S, et al.
PLoS One
. 2013 Apr;
8(3):e58048.
PMID: 23554873
The limited ability of common variants to account for the genetic contribution to complex disease has prompted searches for rare variants of large effect, to partly explain the 'missing heritability'....
8.
Zufferey F, Sherr E, Beckmann N, Hanson E, Maillard A, Hippolyte L, et al.
J Med Genet
. 2012 Oct;
49(10):660-8.
PMID: 23054248
Background: The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective: To define the medical,...
9.
DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, et al.
Am J Med Genet A
. 2012 Aug;
158A(9):2152-61.
PMID: 22847950
We describe 19 unrelated individuals with submicroscopic deletions involving 10p15.3 characterized by chromosomal microarray (CMA). Interestingly, to our knowledge, only two individuals with isolated, submicroscopic 10p15.3 deletion have been reported...
10.
Hegi M, Janzer R, Lambiv W, Gorlia T, Kouwenhoven M, Hartmann C, et al.
Acta Neuropathol
. 2012 Jan;
123(6):841-52.
PMID: 22249618
Glioblastoma (GBM) is a morphologically heterogeneous tumor type with a median survival of only 15 months in clinical trial populations. However, survival varies greatly among patients. As part of a...