Human Genome Epidemiology Literature Finder
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Records 1 - 19 (of 19 Records) |
| Query Trace: Syndrome and PHOX2B[original query] |
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| Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatric research 2004 Sep 56 (3): 391-5. Weese-Mayer Debra E, Berry-Kravis Elizabeth M, Zhou Lili, Maher Brion S, Curran Mark E, Silvestri Jean M, Marazita Mary |
| 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, |
| 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 |
| 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 |
| 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 |
| Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus. Human pathology 2010 Mar 41 (3): 392-400. Tu Emily, Bagnall Richard D, Duflou Johan, Lynch Matthew, Twigg Stephen M, Semsarian Christoph |
| 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 |
| 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 |
| That's not it, either-neither polymorphisms in PHOX2B nor in MIF are involved in sudden infant death syndrome (SIDS). International journal of legal medicine 2015 Sep 129 (5): 985-9. Poetsch Micaela, Todt Rebecca, Vennemann Mechtild, Bajanowski Thom |
| 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 |
| Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. American journal of medical genetics. Part A 2018 4 176 (7): 1627-1631. Katwa Umakanth, D'Gama Alissa M, Qualls Anita E, Donovan Lucas M, Heffernan Jody, Shi Jiahai, Agrawal Pankaj |
| Novel PHOX2B mutations in congenital central hypoventilation syndrome. Pediatrics international : official journal of the Japan Pediatric Society 2019 2 61 (4): 393-396. Sasaki Ayako, Kishikawa Yumiko, Imaji Reisuke, Fukushima Yu, Nakamura Yukiko, Nishimura Yutaka, Yamada Megumi, Mino Yoichi, Mitsui Tetsuo, Hayasaka Kiyos |
| Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature. Translational pediatrics 2021 5 10 (4): 733-745. Mei Mei, Yang Lin, Lu Yulan, Wang Laishuan, Cheng Guoqiang, Cao Yun, Chen Chao, Qian Liling, Zhou Wenh |
| [Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285. Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W |
| Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death. PloS one 2022 4 17 (4): e0267751. Ueda Atsushi, Osawa Motoki, Naito Haruaki, Ochiai Eriko, Kakimoto |
| Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2022 12 . Finch Christina E, Leu Roberta M, Harford Kelli-Lee, Westbrook Adrianna L, Kasi Ajay |
| Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature. Molecular genetics & genomic medicine 2023 9 e2267. Yaoyao Wang, Lina Wang, Xiaoying Chen, Shiguo Liu, Wei Han, Xinjuan Yu, Xipeng Cao, Xiuxiang Liu, Jiahui Wa |
| Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes. Clinical medicine insights. Pediatrics 2023 5 17 11795565231169556. Mary Ellen Fain, Adrianna L Westbrook, Ajay S Ka |
- Page last reviewed:Oct 1, 2023
- Page last updated:Nov 28, 2023
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