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103 results
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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
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, Lyonnet S. Amiel J, et al. Among authors: simonneau m. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453
Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, Zvara A, Santha M, LeGall I, Simonneau M. Boda B, et al. Among authors: simonneau m. Eur J Hum Genet. 2004 Sep;12(9):729-37. doi: 10.1038/sj.ejhg.5201217. Eur J Hum Genet. 2004. PMID: 15162126
Genes modulating chemical breathing control: lessons from mutant animals.
Gaultier C, Dauger S, Simonneau M, Gallego J. Gaultier C, et al. Among authors: simonneau m. Respir Physiol Neurobiol. 2003 Jul 16;136(2-3):105-14. doi: 10.1016/s1569-9048(03)00075-2. Respir Physiol Neurobiol. 2003. PMID: 12853003 Review.
Association of DISC1 gene with schizophrenia in families from two distinct French and Algerian populations.
Lepagnol-Bestel AM, Dubertret C, Benmessaoud D, Simonneau M, Adès J, Kacha F, Hamdani N, Gorwood P, Ramoz N. Lepagnol-Bestel AM, et al. Among authors: simonneau m. Psychiatr Genet. 2010 Dec;20(6):298-303. doi: 10.1097/YPG.0b013e32833aa5c4. Psychiatr Genet. 2010. PMID: 20505556
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. de Pontual L, et al. Among authors: simonneau m. Hum Mol Genet. 2003 Dec 1;12(23):3173-80. doi: 10.1093/hmg/ddg339. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532329
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).
Amiel J, Pelet A, Trang H, de Pontual L, Simonneau M, Munnich A, Gaultier C, Lyonnet S. Amiel J, et al. Among authors: simonneau m. Am J Med Genet A. 2003 Feb 15;117A(1):18-20. doi: 10.1002/ajmg.a.10934. Am J Med Genet A. 2003. PMID: 12548735
[Genetics and respiratory control: studies in normal humans and genetically modified animals].
Gaultier C, Simonneau M, Dauger S, Gallego J. Gaultier C, et al. Among authors: simonneau m. Rev Mal Respir. 2003 Feb;20(1 Pt 1):77-94. Rev Mal Respir. 2003. PMID: 12709637 Review. French.
Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult mice.
Dauger S, Renolleau S, Vardon G, Népote V, Mas C, Simonneau M, Gaultier C, Gallego J. Dauger S, et al. Among authors: simonneau m. Pediatr Res. 1999 Nov;46(5):535-42. doi: 10.1203/00006450-199911000-00008. Pediatr Res. 1999. PMID: 10541315
Genetics and early disturbances of breathing control.
Gaultier C, Amiel J, Dauger S, Trang H, Lyonnet S, Gallego J, Simonneau M. Gaultier C, et al. Among authors: simonneau m. Pediatr Res. 2004 May;55(5):729-33. doi: 10.1203/01.PDR.0000115677.78759.C5. Epub 2004 Jan 22. Pediatr Res. 2004. PMID: 14739359 Review.
DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.
Lepagnol-Bestel AM, Zvara A, Maussion G, Quignon F, Ngimbous B, Ramoz N, Imbeaud S, Loe-Mie Y, Benihoud K, Agier N, Salin PA, Cardona A, Khung-Savatovsky S, Kallunki P, Delabar JM, Puskas LG, Delacroix H, Aggerbeck L, Delezoide AL, Delattre O, Gorwood P, Moalic JM, Simonneau M. Lepagnol-Bestel AM, et al. Among authors: simonneau m. Hum Mol Genet. 2009 Apr 15;18(8):1405-14. doi: 10.1093/hmg/ddp047. Epub 2009 Feb 12. Hum Mol Genet. 2009. PMID: 19218269
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