Heather Etchevers
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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
J Amiel, B Laudier, T Attie-Bitach, HA Trang, L de Pontual, B Gener, ...
Nature genetics 33 (4), 459-461, 2003
The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain
HC Etchevers, C Vincent, NM Le Douarin, GF Couly
Development 128 (7), 1059-1068, 2001
Human neural tube defects: developmental biology, epidemiology, and genetics
ER Detrait, TM George, HC Etchevers, JR Gilbert, M Vekemans, ...
Neurotoxicology and teratology 27 (3), 515-524, 2005
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ...
Nature genetics 41 (3), 359-364, 2009
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations
S Boissel, O Reish, K Proulx, H Kawagoe-Takaki, B Sedgwick, GSH Yeo, ...
The American Journal of Human Genetics 85 (1), 106-111, 2009
PAX8, TITF1, and FOXE1 Gene Expression Patterns during Human Development: New Insights into Human Thyroid Development and Thyroid Dysgenesis …
SS Trueba, J Augé, G Mattei, H Etchevers, J Martinovic, P Czernichow, ...
The Journal of Clinical Endocrinology & Metabolism 90 (1), 455-462, 2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
D Sanlaville, HC Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, ...
Journal of medical genetics 43 (3), 211-317, 2006
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries
V Boeva, C Louis-Brennetot, A Peltier, S Durand, C Pierre-Eugène, ...
Nature genetics 49 (9), 1408-1413, 2017
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
L Baala, S Briault, HC Etchevers, F Laumonnier, A Natiq, J Amiel, ...
Nature genetics 39 (4), 454-456, 2007
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6
C Golzio, J Martinovic-Bouriel, S Thomas, S Mougou-Zrelli, ...
The American Journal of Human Genetics 80 (6), 1179-1187, 2007
Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome
L de Pontual, Y Mathieu, C Golzio, M Rio, V Malan, N Boddaert, C Soufflet, ...
Human mutation 30 (4), 669-676, 2009
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome
H Karmous-Benailly, J Martinovic, MC Gubler, Y Sirot, L Clech, C Ozilou, ...
The American Journal of Human Genetics 76 (3), 493-504, 2005
Human neural crest cells display molecular and phenotypic hallmarks of stem cells
S Thomas, M Thomas, P Wincker, C Babarit, P Xu, MC Speer, A Munnich, ...
Human molecular genetics 17 (21), 3411-3425, 2008
Molecular bases of human neurocristopathies
HC Etchevers, J Amiel, S Lyonnet
Neural crest induction and differentiation, 213-234, 2006
Anterior cephalic neural crest is required for forebrain viability
HC Etchevers, G Couly, C Vincent, NM Le Douarin
Development 126 (16), 3533-3543, 1999
Phenotypic spectrum of STRA6 mutations: from Matthew‐Wood syndrome to non‐lethal anophthalmia
N Chassaing, C Golzio, S Odent, L Lequeux, A Vigouroux, ...
Human mutation 30 (5), E673-E681, 2009
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
L Pinson, J Auge, S Audollent, G Mattei, H Etchevers, N Gigarel, F Razavi, ...
Journal of medical genetics 41 (5), 381-386, 2004
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease
L De Pontual, NA Zaghloul, S Thomas, EE Davis, DM Mcgaughey, ...
Proceedings of the National Academy of Sciences 106 (33), 13921-13926, 2009
OTX2 mutations contribute to the otocephaly-dysgnathia complex
N Chassaing, S Sorrentino, EE Davis, D Martin-Coignard, A Iacovelli, ...
Journal of medical genetics 49 (6), 373-379, 2012
The diverse neural crest: from embryology to human pathology
HC Etchevers, E Dupin, NM Le Douarin
Development 146 (5), dev169821, 2019
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