Etchevers:Publications list

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


  1. pmid=not yet available:

    Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer MC, Munnich A, Lyonnet S, Vekemans M, Etchevers HC. Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Hum Mol Genet 2008, in press.

    Come and pick up your very own pre-print over in the lab notebook section (I can't upload it as one file as yet), and a direct link to the final version in HMG will be provided soon. I'll try to add in more, retroactively.

2007[2, 3, 4, 5, 6]

  1. de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, and Amiel J. Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. Eur J Cancer. 2007 Nov;43(16):2366-72. DOI:10.1016/j.ejca.2007.07.016 | PubMed ID:17765533 | HubMed [Loic-2007]
  2. Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, and Etchevers HC. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet. 2007 Jun;80(6):1179-87. DOI:10.1086/518177 | PubMed ID:17503335 | HubMed [Christelle-2007]
  3. Etchevers HC, Amiel J, and Lyonnet S. [Genetic and molecular bases of neurocristopathies]. Arch Pediatr. 2007 Jun;14(6):668-72. DOI:10.1016/j.arcped.2007.02.072 | PubMed ID:17434298 | HubMed [Heather-2007]
  4. Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attié-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, and Lyonnet S. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet. 2007 Apr;39(4):454-6. DOI:10.1038/ng1993 | PubMed ID:17353897 | HubMed [Lekbir-2007]
  5. Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, Encha-Razavi F, and Benachi A. Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. Am J Med Genet A. 2007 Feb 1;143A(3):219-28. DOI:10.1002/ajmg.a.31599 | PubMed ID:17236193 | HubMed [Jelena-2007]
    This is the section where we could comment on the articles and make a little summary of each if we felt like it.
All Medline abstracts: PubMed | HubMed

2006[7, 8, 9, 10]

  1. Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroye G, Morichon-Delvallez N, Vekemans M, Attié-Bitach T, and Etchevers HC. Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenat Diagn. 2006 Dec;26(13):1201-5. DOI:10.1002/pd.1588 | PubMed ID:17075794 | HubMed [Christelle-2006]
  2. Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, and Attié-Bitach T. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 2006 Mar;43(3):211-217. DOI:10.1136/jmg.2005.036160 | PubMed ID:16169932 | HubMed [Damien-2006]
  3. ISBN:978-1-58706-070-0 [Heather-2006a]
    This last one edited strangely. Saint-Jeannet, J.-P. was the editor, and it apparently was reprinted in the following journal.
  4. Etchevers HC, Amiel J, and Lyonnet S. Molecular bases of human neurocristopathies. Adv Exp Med Biol. 2006;589:213-34. DOI:10.1007/978-0-387-46954-6_14 | PubMed ID:17076285 | HubMed [Heather-2006b]
All Medline abstracts: PubMed | HubMed

2005[11, 12, 13, 14, 15, 16, 17]

  1. Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, and Speer MC. Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol. 2005 May-Jun;27(3):515-24. DOI:10.1016/ | PubMed ID:15939212 | HubMed [Eric-2005a]
  2. Detrait E and Etchevers HC. [Vascularization of the head and neck during development]. J Neuroradiol. 2005 Jun;32(3):147-56. PubMed ID:16134296 | HubMed [Eric-2005b]
  3. Etchevers HC. The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo. Int J Dev Biol. 2005;49(2-3):363-7. DOI:10.1387/ijdb.041942he | PubMed ID:15906252 | HubMed [Heather-2005]
  4. Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, and Speer MC. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Hum Genet. 2005 Jul;117(2-3):133-42. DOI:10.1007/s00439-005-1299-7 | PubMed ID:15883837 | HubMed [Kristin-2005]
  5. Cai J, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Etchevers H, Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, and Lovett M. Gene expression in pharyngeal arch 1 during human embryonic development. Hum Mol Genet. 2005 Apr 1;14(7):903-12. DOI:10.1093/hmg/ddi083 | PubMed ID:15703188 | HubMed [Jerry-2005]
  6. Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, and Attié-Bitach T. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet. 2005 Mar;76(3):493-504. DOI:10.1086/428679 | PubMed ID:15666242 | HubMed [Houda-2005]
  7. Trueba SS, Augé J, Mattei G, Etchevers H, Martinovic J, Czernichow P, Vekemans M, Polak M, and Attié-Bitach T. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab. 2005 Jan;90(1):455-62. DOI:10.1210/jc.2004-1358 | PubMed ID:15494458 | HubMed [Sylvia-2005]
All Medline abstracts: PubMed | HubMed


  1. Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, and Attié-Bitach T. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet. 2004 May;41(5):381-6. PubMed ID:15121778 | HubMed [Lucille-2004]

2003[19, 20]

  1. Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, and Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003 Apr;33(4):459-61. DOI:10.1038/ng1130 | PubMed ID:12640453 | HubMed [Jeanne-2003]
  2. Etchevers HC. Early expression of hypoxia-inducible factor 1alpha in the chicken embryo. Gene Expr Patterns. 2003 Mar;3(1):49-52. PubMed ID:12609602 | HubMed [Heather-2003]
All Medline abstracts: PubMed | HubMed

Before 2003:[21, 22, 23, 24, 25]

  1. Etchevers HC, Couly G, and Le Douarin NM. Morphogenesis of the branchial vascular sector. Trends Cardiovasc Med. 2002 Oct;12(7):299-304. PubMed ID:12458092 | HubMed [Heather-2002]
  2. Etchevers HC, Vincent C, Le Douarin NM, and Couly GF. The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development. 2001 Apr;128(7):1059-68. PubMed ID:11245571 | HubMed [Heather-2001a]
  3. Etchevers HC, Vincent C, Couly GF. "Neural crest and pituitary development". In: Hypothalamic-Pituitary Development: Genetic and Clinical Aspects. R. Rappaport, ed. S. Karger AG, Basel, Suisse, 2001;13-29. isbn=9783805572392. [Heather-2001b]
  4. Duprez D, Leyns L, Bonnin MA, Lapointe F, Etchevers H, De Robertis EM, and Le Douarin N. Expression of Frzb-1 during chick development. Mech Dev. 1999 Dec;89(1-2):179-83. PubMed ID:10559495 | HubMed [Delphine-1999]
  5. Etchevers HC, Couly G, Vincent C, and Le Douarin NM. Anterior cephalic neural crest is required for forebrain viability. Development. 1999 Aug;126(16):3533-43. PubMed ID:10409500 | HubMed [Heather-1999]
All Medline abstracts: PubMed | HubMed

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.