Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 22 (of 22 Records) |
Query Trace: Congenital Central Hypoventilation Syndrome[original query] |
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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 |
Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method. Orphanet journal of rare diseases 2020 11 15 (1): 322. Trang Ha, Bourgeois Pauline, Cheliout-Heraut Fawz |
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 |
Central CO chemosensitivity and CO controller gain independently contribute to daytime PCO in young subjects with congenital central hypoventilation syndrome. Journal of applied physiology (Bethesda, Md. : 1985) 2023 7 . Plamen Bokov, Benjamin Dudoignon, Maxime Patout, Boris Matrot, Jorge Gallego, Christophe Delcla |
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 |
Effect of Facemask in Congenital Central Hypoventilation Syndrome. Respiration; international review of thoracic diseases 2023 12 22-25. Benjamin Dudoignon, Maxime Patout, Nathalie Couque, Christophe Delclaux, Plamen Bok |
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 2024 1 . Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne-Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robin |
[Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 1 41 (1): 32-37. Shengfang Qin, Mengling Ye, Yan Yin, Jin Wang, Xueyan Wang, Zhuo Zhang, Ximin Chen, Mengjia Yan, Yuxia He, Danying Yi, Qin De |
Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype. Pediatric research 2024 1 . Susan M Slattery, James Wilkinson, Angeli Mittal, Charlie Zheng, Nicholas Easton, Saumya Singh, Joshua J Baker, Casey M Rand, Ilya Khaytin, Tracey M Stewart, David Demeter, Debra E Weese-May |
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- Page last updated:Apr 22, 2024
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