DOI: 10.1038/ng1130. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

10.1038/ng1130

Crossref journal-article

Springer Science and Business Media LLC

Nature Genetics (297)

Bibliography

Amiel, J., Laudier, B., AttiÃ©-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. (2003). Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genetics, 33(4), 459â461.

Authors 14

Jeanne Amiel (first)
Béatrice Laudier (additional)
Tania Attié-Bitach (additional)
Ha Trang (additional)
Loïc de Pontual (additional)
Blanca Gener (additional)
Delphine Trochet (additional)
Heather Etchevers (additional)
Pierre Ray (additional)
Michel Simonneau (additional)
Michel Vekemans (additional)
Arnold Munnich (additional)
Claude Gaultier (additional)
Stanislas Lyonnet (additional)

References 15 Referenced 726

Gozal, D. Pediatr. Pulmonol. 26, 273–282 (1998). (10.1002/(SICI)1099-0496(199810)26:4<273::AID-PPUL7>3.0.CO;2-C) / Pediatr. Pulmonol. by D Gozal (1998)
Khalifa, M.M., Flavin, M.A. & Wherrett, B.A. J. Pediatr. 113, 853–855 (1988). (10.1016/S0022-3476(88)80016-7) / J. Pediatr. by MM Khalifa (1988)
Sritippayawan, S. et al. Am. J. Respir. Crit. Care Med. 166, 367–369 (2002). (10.1164/rccm.2112087) / Am. J. Respir. Crit. Care Med. by S Sritippayawan (2002)
Weese-Mayer, D.E., Silvestri, J.M., Marazita, M.L. & Hoo, J.J. Am. J. Med. Genet. 47, 360–367 (1993). (10.1002/ajmg.1320470313) / Am. J. Med. Genet. by DE Weese-Mayer (1993)
Amiel, J. et al. Am. J. Hum. Genet. 62, 715–717 (1998). (10.1086/301759) / Am. J. Hum. Genet. by J Amiel (1998)
Bolk, S. et al. Nat. Genet. 13, 395–396 (1996). (10.1038/ng0896-395) / Nat. Genet. by S Bolk (1996)
Weese-Mayer, D.E., Bolk, S., Silvestri, J.M. & Chakravarti, A. Am. J. Med. Genet. 107, 306–310 (2002). (10.1002/ajmg.10133) / Am. J. Med. Genet. by DE Weese-Mayer (2002)
Brunet, J.F. & Pattyn, A. Curr. Opin. Genet. Dev. 12, 435–440 (2002). (10.1016/S0959-437X(02)00322-2) / Curr. Opin. Genet. Dev. by JF Brunet (2002)
Pattyn, A., Morin, X., Cremer, H., Goridis, C. & Brunet, J.F. Nature 399, 366–370 (1999). (10.1038/20700) / Nature by A Pattyn (1999)
Goodman, F.R. & Scambler, P.J. Clin. Genet. 59, 1–11 (2001). (10.1034/j.1399-0004.2001.590101.x) / Clin. Genet. by FR Goodman (2001)
Stromme, P. et al. Nat. Genet. 30, 441–445 (2002). (10.1038/ng862) / Nat. Genet. by P Stromme (2002)
Bruneau, S., Johnson, K.R., Yamamoto, M., Kuroiwa, A. & Duboule, D. Dev. Biol. 237, 345–353 (2001). (10.1006/dbio.2001.0382) / Dev. Biol. by S Bruneau (2001)
Brown, S.A., Abigani, M. & Brown, L.Y. Am. J. Hum. Genet. 71 Supp. 166 (2002). / Am. J. Hum. Genet. by SA Brown (2002)
Nakano, M. et al. Nat. Genet. 29, 315–320 (2001). (10.1038/ng744) / Nat. Genet. by M Nakano (2001)
Dubreuil, V., Hirsch, M.R., Pattyn, A., Brunet, J.F. & Goridis, C. Development 127, 5191–5201 (2000). (10.1242/dev.127.23.5191) / Development by V Dubreuil (2000)

Dates

Type	When
Created	22 years, 5 months ago (March 28, 2003, 4:57 p.m.)
Deposited	2 years, 3 months ago (May 18, 2023, 5:18 p.m.)
Indexed	1 day, 6 hours ago (Aug. 29, 2025, 6:17 a.m.)
Issued	22 years, 5 months ago (March 17, 2003)
Published	22 years, 5 months ago (March 17, 2003)
Published Online	22 years, 5 months ago (March 17, 2003)
Published Print	22 years, 4 months ago (April 1, 2003)

Funders 0

None

BibTeX

@article{Amiel_2003, title={Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome}, volume={33}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng1130}, DOI={10.1038/ng1130}, number={4}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Amiel, Jeanne and Laudier, Béatrice and Attié-Bitach, Tania and Trang, Ha and de Pontual, Loïc and Gener, Blanca and Trochet, Delphine and Etchevers, Heather and Ray, Pierre and Simonneau, Michel and Vekemans, Michel and Munnich, Arnold and Gaultier, Claude and Lyonnet, Stanislas}, year={2003}, month=mar, pages={459–461} }

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