Genomes and Genes
Heather C Etchevers
- SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defectsKristen L Deak
Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Hum Genet 117:133-42. 2005..These results suggest variations in NCAM1 may influence risk for human NTDs...
- Molecular bases of human neurocristopathiesHeather C Etchevers
Departement de Genetique Medicale, INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris 15, France
Adv Exp Med Biol 589:213-34. 2006
- Human neural crest cells display molecular and phenotypic hallmarks of stem cellsSophie Thomas
INSERM, U781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
Hum Mol Genet 17:3411-25. 2008..The hNCC molecular profile is thus both unique and globally characteristic of uncommitted stem cells...
- Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformationsSarah Boissel
INSERM U781 and Département de Génétique, Universite Paris Descartes, Hopital Necker Enfants Malades, 75015 Paris, France
Am J Hum Genet 85:106-11. 2009....
- Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko
INSERM U 781, Hopital Necker Enfants Malades, Paris, France
Nat Genet 41:359-64. 2009..Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements...
- Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Christelle Golzio
INSERM U781, Hopital Necker, Paris Cedex, France
Am J Hum Genet 80:1179-87. 2007....
- Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesisLekbir Baala
Departement de Genetique Medicale, Institut National D Hygiene, Rabat, Maroc
Nat Genet 39:454-6. 2007..Thus, mutations in genes encoding not only mitotic and apoptotic proteins but also transcription factors may be responsible for malformative microcephaly syndromes...
- Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomyChristelle Golzio
INSERM U781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
Prenat Diagn 26:1201-5. 2006..We report a case of chromosome 8 trisomy in a human embryo examined at Carnegie stage 11 (25 days post-fertilization). It presented severe cardiovascular and central nervous system malformations...
- The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryoHeather C Etchevers
INSERM U393, Hopital Necker Enfants Malades, Paris, France
Int J Dev Biol 49:363-7. 2005..This is the first description using in situ hybridization of the expression of a CNC family member and its dynamics through the course of early development...
- Morphogenesis of the branchial vascular sectorHeather C Etchevers
Institute of Cellular and Molecular Embryology, College of France, Nogent sur Marne, France
Trends Cardiovasc Med 12:299-304. 2002..Unlike the rest of the central nervous system, the forebrain requires mesenchyme-containing vascular-competent NCCs to survive during embryogenesis and beyond...