متابعة
Heather C. Etchevers
Heather C. Etchevers
Scientist, INSERM, Aix-Marseille Université
بريد إلكتروني تم التحقق منه على inserm.fr - الصفحة الرئيسية
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome‏
J Amiel, B Laudier, T Attié-Bitach, H Trang, L de Pontual, B Gener, ...‏
Nature genetics 33 (4), 459-461, 2003‏
9722003
The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain‏
HC Etchevers, C Vincent, NML Douarin, G F. Couly‏
Development 128 (7), 1059-1068, 2001‏
7662001
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
5082005
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
4982009
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
4652009
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
4612017
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
2772005
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
2632006
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
2612007
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
2132007
A roadmap for the human developmental cell atlas‏
M Haniffa, D Taylor, S Linnarsson, BJ Aronow, GD Bader, RA Barker, ...‏
Nature 597 (7875), 196-205, 2021‏
1722021
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
1722009
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
1462005
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
1372008
Anterior cephalic neural crest is required for forebrain viability‏
HC Etchevers, G Couly, C Vincent, NML Douarin‏
Development 126 (16), 3533-3543, 1999‏
1331999
Molecular bases of human neurocristopathies‏
HC Etchevers, J Amiel, S Lyonnet‏
Neural crest induction and differentiation, 213-234, 2006‏
1302006
The diverse neural crest: from embryology to human pathology‏
HC Etchevers, E Dupin, NM Le Douarin‏
Development 146 (5), 2019‏
1212019
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
1202009
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
842004
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
752009
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مقالات 1–20