Etchevers:Publications list

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Reprints always available upon request; erase the final "a" in my address when you send the message.

Articles and links for their download can be found as of May, 2012, on Mendeley.

In press as of May, 2012

Miguel Reyes-Múgica, Mark Beckwith, Heather C Etchevers (2012) Etiology of congenital melanocytic nevi and related conditions, sous presse. In Nevogenesis (Practical Clinical Medicine series)Clinical Medicine.


Christelle Golzio, Emmanuelle Havis, Philippe Daubas, Gregory Nuel, Candice Babarit, Arnold Munnich, Michel Vekemans, Stéphane Zaffran, Stanislas Lyonnet, Heather C Etchevers (2012) ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation., e30677. In PLoS ONE 7 (1).


Matthias Macé, Stéphane D Galiacy, Angélique Erraud, José Enrique Mejía, Heather Etchevers, Michèle Allouche, Laurence Desjardins, Patrick Calvas, François Malecaze (2011) Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas., 6181-91. In Investigative Ophthalmology & Visual Science 52 (9).

Marie Cognet, Agnés Nougayrede, Valérie Malan, Patrick Callier, Celia Cretolle, Laurence Faivre, David Genevieve, Alice Goldenberg, Delphine Heron, Sandra Mercier, Nicole Philip, Sabine Sigaudy, Alain Verloes, Sabine Sarnacki, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Heather Etchevers, Jeanne Amiel, Loïc de Pontual (2011) Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia., 602-6. In European Journal of Human Genetics 19 (5).

Loïc de Pontual, Dania Kettaneh, Christopher T. Gordon, Myriam Oufadem, Nathalie Boddaert, Melissa Lees, Laurent Balu, Eric Lachassinne, Andy Petros, Julie Mollet, Louise C. Wilson, Arnold Munnich, Laurence Brugière, Olivier Delattre, Michel Vekemans, Heather Etchevers, Stanislas Lyonnet, Isabelle Janoueix-Lerosey, Jeanne Amiel (2011) Germline gain-of-function mutations of ALK disrupt central nervous system development., 272-6. In Human Mutation 32 (3).

Sven Krengel, Helmut Breuninger, Mark Beckwith, Heather C Etchevers (2011) Meeting report from the 2011 international expert meeting on large congenital melanocytic nevi and neurocutaneous melanocytosis, Tübingen. E1-6. In Pigment Cell & Melanoma research 24 (4).

Heather Etchevers (2011) Primary culture of chick, mouse or human neural crest cells, 1568-1577. In Nature Protocols 6 (10).


Sophie Thomas, Ferechté Encha-Razavi, Louise Devisme, Heather Etchevers, Bettina Bessieres-Grattagliano, Géraldine Goudefroye, Nadia Elkhartoufi, Emilie Pateau, Amale Ichkou, Maryse Bonnière, Pascale Marcorelle, Philippe Parent, Sylvie Manouvrier, Muriel Holder, Annie Laquerrière, Laurence Loeuillet, Joelle Roume, Jelena Martinovic, Soumaya Mougou-Zerelli, Marie Gonzales, Vincent Meyer, Marc Wessner, Christine Bole Feysot, Patrick Nitschke, Nadia Leticee, Arnold Munnich, Stanislas Lyonnet, Peter Wookey, Gabor Gyapay, Bernard Foliguet, Michel Vekemans, Tania Attié-Bitach (2010) High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy, 1134-41. In Human Mutation 31 (10).

Myriam Chaabouni, Heather Etchevers, Marie Christine De Blois, Patrick Calvas, Marie Christine Waill-Perrier, Michel Vekemans, Serge Pierrick Romana (2010) Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment., 4380-6. In Investigative Ophthalmology & Visual Science 51 (9).


Loïc de Pontual, Norann a Zaghloul, Sophie Thomas, Erica E Davis, David M McGaughey, Hélène Dollfus, Clarisse Baumann, Seneca L Bessling, Candice Babarit, Anna Pelet, Cecilia Gascue, Philip Beales, Arnold Munnich, Stanislas Lyonnet, Heather Etchevers, Tania Attie-Bitach, Jose L Badano, Andrew S McCallion, Nicholas Katsanis, Jeanne Amiel (2009) Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease., 13921-6. In Proceedings of the National Academy of Sciences of the United States of America 106 (33).

Sabina Benko, Judy A Fantes, Jeanne Amiel, Dirk-Jan Kleinjan, Sophie Thomas, Jacqueline Ramsay, Negar Jamshidi, Abdelkader Essafi, Simon Heaney, Christopher T Gordon, David McBride, Christelle Golzio, Malcolm Fisher, Paul Perry, Véronique Abadie, Carmen Ayuso, Muriel Holder-Espinasse, Nicky Kilpatrick, Melissa M Lees, Arnaud Picard, I Karen Temple, Paul Thomas, Marie-Paule Vazquez, Michel Vekemans, Hugues Roest Crollius, Nicholas D Hastie, Arnold Munnich, Heather C Etchevers, Anna Pelet, Peter G Farlie, David R Fitzpatrick, Stanislas Lyonnet (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence., 359-64. In Nature Genetics 41 (3).

Sarah Boissel, Orit Reish, Karine Proulx, Hiroko Kawagoe-Takaki, Barbara Sedgwick, Giles S H Yeo, David Meyre, Christelle Golzio, Florence Molinari, Noman Kadhom, Heather C Etchevers, Vladimir Saudek, I Sadaf Farooqi, Philippe Froguel, Tomas Lindahl, Stephen O'Rahilly, Arnold Munnich, Laurence Colleaux (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations., 106-11. In American Journal of Human Genetics 85 (1).

Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlene Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Picard, Anne Durandy, Angus Dobbie, Delphine Heron, Bertrand Isidor, Jacques Motte, Ruth Newburry-Ecob, Laurent Pasquier, Marc Tardieu, Géraldine Viot, Francis Jaubert, Arnold Munnich, Laurence Colleaux, Michel Vekemans, Heather Etchevers, Stanislas Lyonnet, Jeanne Amiel (2009) Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome., 669-76. In Human Mutation 30 (4).

B Bessières-Grattagliano, B Foliguet, L Devisme, L Loeuillet, P Marcorelles, M Bonnière, A Laquerrière, C Fallet-Bianco, J Martinovic, S Zrelli, N Leticee, V Cayol, H C Etchevers, M Vekemans, T Attie-Bitach, F Encha-Razavi (2009) Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases., 386-92. In European Journal of Medical Genetics 52 (6).

Sabina Benko, Judy A Fantes, Jeanne Amiel, Dirk-Jan Kleinjan, Sophie Thomas, Jacqueline Ramsay, Negar Jamshidi, Abdelkader Essafi, Simon Heaney, Christopher T Gordon, David McBride, Christelle Golzio, Malcolm Fisher, Paul Perry, Véronique Abadie, Carmen Ayuso, Muriel Holder-Espinasse, Nicky Kilpatrick, Melissa M Lees, Arnaud Picard, I Karen Temple, Paul Thomas, Marie-Paule Vazquez, Michel Vekemans, Hugues Roest Crollius, Nicholas D Hastie, Arnold Munnich, Heather C Etchevers, Anna Pelet, Peter G Farlie, David R Fitzpatrick, Stanislas Lyonnet (2009) SI: Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence., 359-64. In Nature Genetics 41 (3).


Ezat Sajedi, Carles Gaston-Massuet, Massimo Signore, Cynthia L Andoniadou, Daniel Kelberman, Sandra Castro, Heather C Etchevers, Dianne Gerrelli, Mehul T Dattani, Juan Pedro Martinez-Barbera (2008) Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism., 241-54. In Disease Models & Mechanisms 1 (4-5).

L Lequeux, M Rio, A Vigouroux, M Titeux, H Etchevers, F Malecaze, N Chassaing, P Calvas (2008) Confirmation of RAX gene involvement in human anophthalmia., 392-5. In Clinical Genetics 74 (4).

Sophie Thomas, Marie Thomas, Patrick Wincker, Candice Babarit, Puting Xu, Marcy C Speer, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Heather C Etchevers (2008) Human neural crest cells display molecular and phenotypic hallmarks of stem cells., 3411-25. In Human Molecular Genetics 17 (21).


Heather Etchevers, Jeanne Amiel, Stanislas Lyonnet (2007) Bases génétiques et moléculaires des neurocristopathies, 668-672. In Archives de Pédiatrie 14 (6).

Lekbir Baala, Sylvain Briault, Heather C Etchevers, Frédéric Laumonnier, Abdelhafid Natiq, Jeanne Amiel, Nathalie Boddaert, Capucine Picard, Aziza Sbiti, Abdellah Asermouh, Tania Attié-Bitach, Féréchté Encha-Razavi, Arnold Munnich, Abdelaziz Sefiani, Stanislas Lyonnet (2007) Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis., 454-6. In Nature Genetics 39 (4).

Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano-Bessieres, Maryse Bonniere, Sophie Delahaye, Arnold Munnich, Ferechte Encha-Razavi, Stanislas Lyonnet, Michel Vekemans, Tania Attie-Bitach, Heather C Etchevers (2007) Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6., 1179-87. In American Journal of Human Genetics 80 (6).

Jelena Martinovic-Bouriel, Céline Bernabé-Dupont, Christelle Golzio, Bettina Grattagliano-Bessières, Valérie Malan, Maryse Bonnière, Chantal Esculpavit, Catherine Fallet-Bianco, Véronique Mirlesse, Jerôme Le Bidois, Marie-Cécile Aubry, Michel Vekemans, Nicole Morichon, Heather Etchevers, Tania Attie-Bitach, Féréchté Encha-Razavi, Alexandra Benachi (2007) Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2., 219-28. In American Journal of Medical Genetics. Part A 143 (3).

Loïc de Pontual, Delphine Trochet, Franck Bourdeaut, Sophie Thomas, Heather Etchevers, Agnès Chompret, Véronique Minard, Dominique Valteau, Laurence Brugieres, Arnold Munnich, Olivier Delattre, Stanislas Lyonnet, Isabelle Janoueix-Lerosey, Jeanne Amiel (2007) Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma., 2366-72. In European Journal of Cancer 43 (16).


Christelle Golzio, Jessica Guirchoun, Catherine Ozilou, Sophie Thomas, Géraldine Goudefroye, Nicole Morichon-Delvallez, Michel Vekemans, Tania Attie-Bitach, Heather C Etchevers (2006) Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy., 1201-5. In Prenatal Diagnosis 26 (13).

D Sanlaville*, H C Etchevers*, M Gonzales*, J Martinovic, M Clément-Ziza, A-L Delezoide, M-C Aubry, A Pelet, S Chemouny, C Cruaud, S Audollent, C Esculpavit, G Goudefroye, C Ozilou, C Fredouille, N Joye, N Morichon-Delvallez, Y Dumez, J Weissenbach, A Munnich, J Amiel, F Encha-Razavi, S Lyonnet, M Vekemans, T Attié-Bitach (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development., 211-217. In Journal of Medical Genetics 43 (3).


H Karmous-Benailly, J Martinovic, M C Gubler, Y Sirot, L Clech, C Ozilou, J Auge, N Brahimi, H Etchevers, E Detrait, C Esculpavit, S Audollent, G Goudefroye, M Gonzales, J Tantau, P Loget, M Joubert, D Gaillard, C Jeanne-Pasquier, A L Delezoide, M O Peter, G Plessis, B Simon-Bouy, H Dollfus, M Le Merrer, A Munnich, F Encha-Razavi, M Vekemans, T Attie-Bitach (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome, 493-504. In Am J Hum Genet 76 (3).

Juanliang Cai, David Ash, Lori E Kotch, Ethylin Wang Jabs, Tania Attie-Bitach, Joelle Auge, Geraldine Mattei, Heather Etchevers, Michel Vekemans, Yulia Korshunova, Rose Tidwell, David N Messina, Julia B Winston, Michael Lovett (2005) Gene expression in pharyngeal arch 1 during human embryonic development., 903-12. In Human Molecular Genetics 14 (7).

Eric R Detrait, Timothy M George, Heather C Etchevers, John R Gilbert, Michel Vekemans, Marcy C Speer (2005) Human neural tube defects: developmental biology, epidemiology, and genetics, 515-524. In Neurotoxicology and Teratology 27 (3).

Sylvia Sura Trueba, Joëlle Augé, Géraldine Mattei, Heather Etchevers, Jélééna Martinovic, Paul Czernichow, Michel Vekemans, Michel Polak, Tania Attié-Bitach (2005) PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations., 455-62. In The Journal of Clinical Endocrinology and Metabolism 90 (1).

Kristen L Deak, Abee L Boyles, Heather C Etchevers, Elizabeth C Melvin, Deborah G Siegel, Felicia L Graham, Susan H Slifer, David S Enterline, Timothy M George, Michel Vekemans, David McClay, Alexander G Bassuk, John a Kessler, Elwood Linney, John R Gilbert, Marcy C Speer (2005) SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects., 133-42. In Human Genetics 117 (2-3).

Heather C Etchevers (2005) The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo., 363-7. In The International Journal of Developmental Biology 49 (2-3).

Eric Detrait, Heather C Etchevers (2005) Vascularisation de la tęte et du cou au cours du développement, 147-156. In Journal of Neuroradiology.


L Pinson, J Augé, S Audollent, G Mattéi, H Etchevers, N Gigarel, F Razavi, D Lacombe, S Odent, M Le Merrer, J Amiel, A Munnich, G Meroni, S Lyonnet, M Vekemans, T Attié-Bitach (2004) Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome., 381-6. In Journal of Medical Genetics 41 (5).


H Etchevers (2003) Early expression of hypoxia-inducible factor 1α in the chicken embryo, 49-52. In Gene Expression Patterns 3 (1).

Jeanne Amiel, Béatrice Laudier, Tania Attié-Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre Ray, Michel Simonneau, Michel Vekemans, Arnold Munnich, Claude Gaultier, Stanislas Lyonnet (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome, 459-61. In Nature Genetics 33 (4).

H. Etchevers (2003) Vasculo-and angio-genesis in the head and neck, 735–738. In Rivista di Neuroradiologia 16 (5).


Heather C Etchevers, Gérard Couly, Nicole M Le Douarin (2002) Morphogenesis of the branchial vascular sector, 299-304. In Trends in Cardiovascular Medicine 12 (7).


H C Etchevers, C Vincent, N M Le Douarin, G F Couly (2001) The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain., 1059-68. In Development 128 (7).


HC Etchevers, G Couly, C Vincent, NM Le Douarin (1999) Anterior cephalic neural crest is required for forebrain viability, 3533-3543. In Development 126 (16).

D Duprez, L Leyns, M A Bonnin, F Lapointe, H Etchevers, E M De Robertis, N Le Douarin (1999) Expression of Frzb-1 during chick development., 179-83. In Mechanisms of Development 89 (1-2).

Sophie Thomas, Lekbir Baala, Jean-Claude Quintyn, Nicolas Chassaing and Eric Detrait have published other work outside of our laboratory. See under their names at PubMed.