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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 10, 2023. (Total: 223917Documents)
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Records 1 - 16 (of 16 Records)

Query Trace: Hypoventilation and PHOX2B[original query]
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
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
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
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