HuGE Literature Finder
Records
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| Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome. Journal of human genetics 2015 Sep 60 (9): 473-7. Shimokaze Tomoyuki, Sasaki Ayako, Meguro Toru, Hasegawa Hisaya, Hiraku Yuka, Yoshikawa Tetsushi, Kishikawa Yumiko, Hayasaka Kiyos |
| Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the PHOX2B gene. Sleep & breathing = Schlaf & Atmung 2013 Dec 17 (4): 1275-80. Lavezzi Anna Maria, Casale Valentina, Oneda Roberta, Gioventù Silvia, Matturri Luigi, Farronato Giampiet |
| Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagnostic molecular pathology : the American journal of surgical pathology, part B 2010 Dec 19 (4): 224-31. Jennings Lawrence J, Yu Min, Zhou Lili, Rand Casey M, Berry-Kravis Elizabeth M, Weese-Mayer Debra |
| Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatric pulmonology 2008 Jan 43 (1): 77-86. Gronli Jerome O, Santucci Barbara A, Leurgans Sue E, Berry-Kravis Elizabeth M, Weese-Mayer Debra |
| Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE. Electrophoresis 2007 Mar 28 (6): 894-9. Hung Chia-Cheng, Su Yi-Ning, Tsao Po-Nien, Chen Pau-Chung, Lin Shio-Jean, Lin Cheng-Hui, Mu Shu-Chi, Liu Chieh-An, Chang Ying-Chao, Lin Win-Li, Hsieh Wu-Shiun, Hsu Su-Mi |
| PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. American journal of medical genetics. Part A 2006 Jun 140 (12): 1297-301. McConville Carmel, Reid Sarah, Baskcomb Linda, Douglas Jenny, Rahman Nazne |
| PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. American journal of human genetics 2005 Mar 76 (3): 421-6. Trochet Delphine, O'Brien Louise M, Gozal David, Trang Ha, Nordenskjöld Agneta, Laudier Béatrice, Svensson Pär-Johan, Uhrig Sabine, Cole Trevor, Niemann Stephan, Munnich Arnold, Gaultier Claude, Lyonnet Stanislas, Amiel Jean |
| The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest 2005 Jan 127 (1): 72-9. Trang Ha, Dehan Michel, Beaufils François, Zaccaria Isabelle, Amiel Jeanne, Gaultier Claude, |
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