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Sandrine Passemard
Sandrine Passemard
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Adresse e-mail validée de noos.fr
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WDR62 is associated with the spindle pole and is mutated in human microcephaly
AK Nicholas, M Khurshid, J Désir, OP Carvalho, JJ Cox, G Thornton, ...
Nature genetics 42 (11), 1010-1014, 2010
3522010
Many roads lead to primary autosomal recessive microcephaly
AM Kaindl, S Passemard, P Kumar, N Kraemer, L Issa, A Zwirner, ...
Progress in neurobiology 90 (3), 363-383, 2010
2662010
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities
M Breuss, JIT Heng, K Poirier, G Tian, XH Jaglin, Z Qu, A Braun, T Gstrein, ...
Cell reports 2 (6), 1554-1562, 2012
1992012
Neuroprotective effects of dexmedetomidine against glutamate agonist-induced neuronal cell death are related to increased astrocyte brain-derived neurotrophic factor expression
V Degos, TL charpentier, V Chhor, O Brissaud, S Lebon, ...
Anesthesiology 118 (5), 1123-1132, 2013
1972013
Embryonic depletion of serotonin affects cortical development
T Vitalis, O Cases, S Passemard, J Callebert, JG Parnavelas
European Journal of Neuroscience 26 (2), 331-344, 2007
1672007
Microcephaly
S Passemard, AM Kaindl, A Verloes
Handbook of clinical neurology 111, 129-141, 2013
1582013
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
S Passemard, L Titomanlio, M Elmaleh, A Afenjar, JL Alessandri, G Andria, ...
Neurology 73 (12), 962-969, 2009
1342009
ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53
VE Ghouzzi, FT Bianchi, I Molineris, BC Mounce, GE Berto, M Rak, ...
Cell death & disease 7 (10), e2440-e2440, 2016
1232016
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
AN Lamb, JA Rosenfeld, NJ Neill, ME Talkowski, I Blumenthal, S Girirajan, ...
Human mutation 33 (4), 728-740, 2012
1192012
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia
D Hervé, A Philippi, R Belbouab, M Zerah, S Chabrier, ...
The American Journal of Human Genetics 94 (3), 385-394, 2014
1132014
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
C Depienne, C Nava, B Keren, S Heide, A Rastetter, S Passemard, ...
Human genetics 136, 463-479, 2017
862017
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
AC Tabet, T Rolland, M Ducloy, J Lévy, J Buratti, A Mathieu, D Haye, ...
NPJ genomic medicine 2 (1), 32, 2017
832017
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
LM Bronicki, C Redin, S Drunat, A Piton, M Lyons, S Passemard, ...
European Journal of Human Genetics 23 (11), 1482-1487, 2015
802015
ARCN1 mutations cause a recognizable craniofacial syndrome due to COPI-mediated transport defects
K Izumi, M Brett, E Nishi, S Drunat, ES Tan, K Fujiki, S Lebon, B Cham, ...
The American Journal of Human Genetics 99 (2), 451-459, 2016
742016
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
P Boonsawat, P Joset, K Steindl, B Oneda, L Gogoll, S Azzarello-Burri, ...
Genetics in Medicine 21 (9), 2043-2058, 2019
712019
Mutations in citron kinase cause recessive microlissencephaly with multinucleated neurons
BN Harding, A Moccia, S Drunat, O Soukarieh, H Tubeuf, LS Chitty, ...
The American Journal of Human Genetics 99 (2), 511-520, 2016
702016
Primary autosomal recessive microcephalies and seckel syndrome spectrum disorders–retired chapter, for historical reference only
A Verloes, S Drunat, P Gressens, S Passemard
702013
Autosomal recessive primary microcephaly due to ASPM mutations: An update
P Létard, S Drunat, Y Vial, S Duerinckx, A Ernault, D Amram, S Arpin, ...
Human mutation 39 (3), 319-332, 2018
672018
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
S Scheidecker, C Etard, L Haren, C Stoetzel, S Hull, G Arno, V Plagnol, ...
The American Journal of Human Genetics 96 (4), 666-674, 2015
662015
Further delineation of the 17p13. 3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients
M Schiff, A Delahaye, J Andrieux, D Sanlaville, C Vincent-Delorme, ...
European journal of medical genetics 53 (5), 303-308, 2010
512010
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