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The respiratory phenotype of <jats:italic>Rnx<\/jats:italic> knock\u2010out mice together with the <jats:italic>Rnx<\/jats:italic> expression at the brainstem level prompted us to consider the <jats:italic>RNX<\/jats:italic> gene as a candidate for CCHS in human. The screening of the <jats:italic>RNX<\/jats:italic> gene in a series of 25 patients with CCHS did not reveal any significant nucleotide variation. We therefore conclude that <jats:italic>RNX<\/jats:italic> is not a major gene for CCHS in human. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10934","type":"journal-article","created":{"date-parts":[[2003,1,27]],"date-time":"2003-01-27T16:33:06Z","timestamp":1043685186000},"page":"18-20","source":"Crossref","is-referenced-by-count":15,"title":["Exclusion of <i>RNX<\/i> as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)"],"prefix":"10.1002","volume":"117A","author":[{"given":"Jeanne","family":"Amiel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pelet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ha","family":"Trang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lo\u00efc","family":"de Pontual","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Simonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Gaultier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/301759"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-395"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960628)63:4<603::AID-AJMG14>3.0.CO;2-M"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.78.4.316"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00056.2001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(199810)26:4<273::AID-PPUL7>3.0.CO;2-C"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90381-Y"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197811000-00003"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.4.272"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02282890"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80016-7"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.921501"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.101.5.924"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/73516"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470313"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.160.1.16010"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1249"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10133"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10934","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T23:25:13Z","timestamp":1700177113000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10934"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10,2]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,2,15]]}},"alternative-id":["10.1002\/ajmg.a.10934"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10934","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,10,2]]}}}