Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 40 Records) |
| Query Trace: PHOX2B[original query] |
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| Rare occurrence of PHOX2b mutations in sporadic neuroblastomas. Journal of pediatric hematology/oncology 2008 Oct 30 (10): 728-32. Serra Alexandre, Häberle Beate, König Inke R, Kappler Roland, Suttorp Meinolf, Schackert Hans K, Roesner Dietmar, Fitze Gui |
| Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China. Journal of pediatric surgery 2009 Sep 44 (9): 1805-11. Liu Cui-Ping, Li Xin-Gang, Lou Jin-Tu, Xue Yun, Luo Chun-Fen, Zhou Xue-Wu, Chen Fei, Li Xiang, Li Meng, Li Ji-Che |
| rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population. The American journal of gastroenterology 2009 Mar 104 (3): 665-72. Glas Jürgen, Seiderer Julia, Pasciuto Giulia, Tillack Cornelia, Diegelmann Julia, Pfennig Simone, Konrad Astrid, Schmechel Silke, Wetzke Martin, Török Helga-Paula, Stallhofer Johannes, Jürgens Matthias, Griga Thomas, Klein Wolfram, Epplen Jörg T, Schiemann Uwe, Mussack Thomas, Lohse Peter, Göke Burkhard, Ochsenkühn Thomas, Folwaczny Matthias, Müller-Myhsok Bertram, Brand Steph |
| 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 |
| IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes. International journal of molecular medicine 2011 Mar 27 (3): 469-77. Lauriola Mattia, Ugolini Giampaolo, Rivetti Stefano, Nanì Sara, Rosati Giancarlo, Zanotti Simone, Montroni Isacco, Manaresi Alessio, Zattoni Davide, Belluzzi Andrea, Castellani Lucia, D'Uva Gabriele, Mattei Gabriella, Taffurelli Mario, Strippoli Pierluigi, Solmi Rossel |
| Associations between variants near a monoaminergic pathways gene (PHOX2B) and amygdala reactivity: a genome-wide functional imaging study. Twin research and human genetics : the official journal of the International Society for Twin Studies 2012 Jun 15 (3): 273-85. Ousdal Olga Therese, Anand Brown Andrew, Jensen Jimmy, Nakstad Per H, Melle Ingrid, Agartz Ingrid, Djurovic Srdjan, Bogdan Ryan, Hariri Ahmad R, Andreassen Ole |
| 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 |
| Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. Neurology 2014 Sep 83 (11): 1018-21. Bagnall Richard D, Crompton Douglas E, Cutmore Carina, Regan Brigid M, Berkovic Samuel F, Scheffer Ingrid E, Semsarian Christoph |
| RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis. PloS one 2014 9 (3): e90091. Liang Chun-mei, Ji Dong-mei, Yuan Xu, Ren Ling-ling, Shen Juan, Zhang Hai-y |
| 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 |
| Analysis of Hypoxic and Hypercapnic Ventilatory Response in Healthy Volunteers. PloS one 2017 12 (1): e0168930. Goldberg Shmuel, Ollila Hanna Maria, Lin Ling, Sharifi Husham, Rico Tom, Andlauer Olivier, Aran Adi, Bloomrosen Efrat, Faraco Juliette, Fang Han, Mignot Emmanu |
| RAS-MAPK Pathway-Driven Tumor Progression Is Associated with Loss of CIC and Other Genomic Aberrations in Neuroblastoma. Cancer research 2018 Nov 78 (21): 6297-6307. Eleveld Thomas F, Schild Linda, Koster Jan, Zwijnenburg Danny A, Alles Lindy K, Ebus Marli E, Volckmann Richard, Tijtgat Godelieve A, van Sluis Peter, Versteeg Rogier, Molenaar Jan |
| 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 |
| Multifocal primary neuroblastoma tumor heterogeneity in siblings with co-occurring PHOX2B and NF1 genetic aberrations. Genes, chromosomes & cancer 2019 9 59 (2): 119-124. Rybinski Brad, Wolinsky Tamar, Brohl Andrew, Moerdler Scott, Reed Damon R, Ewart Michelle, Weiser Dani |
| Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma. Aging 2019 2 11 (4): 1252-1261. Zhao Jinglu, Zhu Yun, Xie Xiaoli, Yao Yuxiao, Zhang Jiao, Zhang Ruizhong, Huang Lihua, Cheng Jiwen, Xia Huimin, He Jing, Zhang Y |
| 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 |
| ASCL1 is a MYCN- and LMO1-dependent member of the adrenergic neuroblastoma core regulatory circuitry. Nature communications 2019 12 10 (1): 5622. Wang Lu, Tan Tze King, Durbin Adam D, Zimmerman Mark W, Abraham Brian J, Tan Shi Hao, Ngoc Phuong Cao Thi, Weichert-Leahey Nina, Akahane Koshi, Lawton Lee N, Rokita Jo Lynne, Maris John M, Young Richard A, Look A Thomas, Sanda Takao |
| Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility. Bioscience reports 2019 Oct 39 (10): . Lin Ao, Fu Wen, Wang Wenwen, Zhu Jinhong, Liu Jiabin, Xia Huimin, Liu Guochang, He Ji |
| Nervous system: Embryonal tumors: Neuroblastoma. Atlas of genetics and cytogenetics in oncology and haematology 2020 4 24 (7): 284-290. Pudela Caileigh, Balyasny Skye, Applebaum Mark |
| Multi-Omics Analysis Reveals Novel Subtypes and Driver Genes in Glioblastoma. Frontiers in genetics 2020 12 11 565341. Yuan Yang, Qi Pan, Xiang Wang, Yanhui Liu, Yu Li, Qing M |
| 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 |
| Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants. PloS one 2022 17 (8): e0273280. Przyby?a Weronika, Gjersvoll Paulsen Kirsti Marie, Mishra Charitra Kumar, Nygård Ståle, Engebretsen Solveig, Ruud Ellen, Trøen Gunhild, Beiske Klaus, Baumbusch Lars Oliv |
| 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 |
| CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity. HGG advances 2022 11 4 (1): 100158. Formicola Daniela, Lasorsa Vito Alessandro, Cantalupo Sueva, Testori Alessandro, Cardinale Antonella, Avitabile Marianna, Diskin Sharon, Iolascon Achille, Capasso Mar |
| 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:Feb 1, 2023
- Page last updated:Sep 29, 2023
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