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Select item 95441361.

Spectrum of paired‐like homeobox 2b immunoexpression in pediatric brain tumors with embryonal morphology

Murad Alturkustani, Adam D. Walker, Ivy Tran, Matija Snuderl, Jennifer A. Cotter

Pathol Int. 2022 Aug; 72(8): 402–410. Published online 2022 Jun 28. doi: 10.1111/pin.13255

PMCID:: PMC9544136

Abstract Article PDF–1.9M

Select item 84940812.

Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations

Ajay S. Kasi, Hong Li, Taryn J. Jurgensen, Lokesh Guglani, Thomas G. Keens, Iris A. Perez

J Clin Sleep Med. 2021 Oct 1; 17(10): 2049–2055. Published online 2021 Oct 1. doi: 10.5664/jcsm.9370

PMCID:: PMC8494081

Abstract Article PDF–518K

Select item 77675583.

A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation

Nikolai Paul Pace, Michael Pace Bardon, Isabella Borg

Mol Genet Genomic Med. 2020 Dec; 8(12): e1528. Published online 2020 Oct 13. doi: 10.1002/mgg3.1528

PMCID:: PMC7767558

Abstract Article PDF–655K

Select item 68225304.

Association between PHOX2B gene rs28647582 T>C polymorphism and Wilms tumor susceptibility

Ao Lin, Wen Fu, Wenwen Wang, Jinhong Zhu, Jiabin Liu, Huimin Xia, Guochang Liu, Jing He

Biosci Rep. 2019 Oct 30; 39(10): BSR20192529. Published online 2019 Oct 18. doi: 10.1042/BSR20192529

PMCID:: PMC6822530

Abstract Article PDF–312K

Select item 64667535.

Altered enteric expression of the homeobox transcription factor Phox2b in patients with diverticular disease

François Cossais, Christina Lange, Martina Barrenschee, Marie Möding, Michael Ebsen, Ilka Vogel, Martina Böttner, Thilo Wedel

United European Gastroenterol J. 2019 Apr; 7(3): 349–357. Published online 2019 Jan 16. doi: 10.1177/2050640618824913

PMCID:: PMC6466753

Abstract Article PDF–1.0M

Select item 64025226.

Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma

Jinglu Zhao, Yun Zhu, Xiaoli Xie, Yuxiao Yao, Jiao Zhang, Ruizhong Zhang, Lihua Huang, Jiwen Cheng, Huimin Xia, Jing He, Yan Zhang

Aging (Albany NY) 2019 Feb 28; 11(4): 1252–1261. Published online 2019 Feb 22. doi: 10.18632/aging.101834

PMCID:: PMC6402522

Abstract Article PDF–445K

Select item 62877287.

Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome

Ajay S. Kasi, Sheila S. Kun, Thomas G. Keens, Iris A. Perez

J Clin Sleep Med. 2018 Dec 15; 14(12): 2079–2081. Published online 2018 Dec 15. doi: 10.5664/jcsm.7542

PMCID:: PMC6287728

Abstract Article PDF–521K

Select item 61172188.

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations

Umakanth Katwa, Alissa M. D'Gama, Anita E. Qualls, Lucas M. Donovan, Jody Heffernan, Jiahai Shi, Pankaj B. Agrawal

Am J Med Genet A. Author manuscript; available in PMC 2018 Aug 31.

Published in final edited form as: Am J Med Genet A. 2018 Jul; 176(7): 1627–1631. Published online 2018 Apr 28. doi: 10.1002/ajmg.a.38720

PMCID:: PMC6117218

Abstract Article PDF–350K

Select item 59920909.

Expanding the Phenotype of Congenital Central Hypoventilation Syndrome Impacts Management Decisions

Heather M. Byers, Maida Chen, Andrew S. Gelfand, Bruce Ong, Marisa Jendras, Ian A. Glass

Am J Med Genet A. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Am J Med Genet A. 2018 Jun; 176(6): 1398–1404. Published online 2018 Apr 25. doi: 10.1002/ajmg.a.38726

PMCID:: PMC5992090

Abstract Article PDF–754K

Select item 584688910.

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

Simona Di Lascio, Roberta Benfante, Eleonora Di Zanni, Silvia Cardani, Annalisa Adamo, Diego Fornasari, Isabella Ceccherini, Tiziana Bachetti

Hum Mutat. 2018 Feb; 39(2): 219–236. Published online 2017 Nov 21. doi: 10.1002/humu.23365

PMCID:: PMC5846889

Abstract Article PDF–2.3M

Select item 559746211.

Examination of PHOX2B in Adult Neuroendocrine Neoplasms Reveals Relatively Frequent Expression in Pheochromocytomas and Paragangliomas

John P Lee, Yin P Hung, Thomas M O’Dorisio, James R Howe, Jason L Hornick, Andrew M Bellizzi

Histopathology. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Histopathology. 2017 Oct; 71(4): 503–510. Published online 2017 Jul 13. doi: 10.1111/his.13243

PMCID:: PMC5597462

Abstract Article PDF–3.3M

Select item 548258512.

Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation

Ajay S. Kasi, Taryn J. Jurgensen, Stephanie Yen, Sheila S. Kun, Thomas G. Keens, Iris A. Perez

J Clin Sleep Med. 2017 Jul 15; 13(7): 925–927. Published online 2017 Jul 15. doi: 10.5664/jcsm.6670

PMCID:: PMC5482585

Abstract Article PDF–404K

Select item 539735913.

Nonsense Pathogenic Variants in Exon One of PHOX2B Lead to Translational Reinitiation in Congenital Central Hypoventilation Syndrome

Jacob T. Cain, Dae I. Kim, Megan Quast, Winnie G. Shivega, Ryan J. Patrick, Chuanpit Moser, Suzanne Reuter, Myrza Perez, Angela Myers, Jill M. Weimer, Kyle J. Roux, Megan Landsverk

Am J Med Genet A. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Am J Med Genet A. 2017 May; 173(5): 1200–1207. Published online 2017 Mar 29. doi: 10.1002/ajmg.a.38162

PMCID:: PMC5397359

Abstract Article PDF–529K

Select item 354466014.

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

Raquel María Fernández, Yves Mathieu, Berta Luzón-Toro, Rocío Núñez-Torres, Antonio González-Meneses, Guillermo Antiñolo, Jeanne Amiel, Salud Borrego

PLoS One. 2013; 8(1): e54043. Published online 2013 Jan 14. doi: 10.1371/journal.pone.0054043

PMCID:: PMC3544660

Abstract Article PDF–372K

Select item 303102215.

Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant

Chung-Won Lee, Jae-Ho Lee, Eun-Young Jung, Soon-Ok Choi, Chun-Soo Kim, Sang-Lak Lee, Dae-Kwang Kim

J Korean Med Sci. 2011 Feb; 26(2): 312–315. Published online 2011 Jan 24. doi: 10.3346/jkms.2011.26.2.312

PMCID:: PMC3031022

Abstract Article PDF–1.7M

Select item 294646816.

Congenital Central Hypoventilation Syndrome and the PHOX2B Gene: A Model of Respiratory and Autonomic Dysregulation

Pallavi P. Patwari, Michael S. Carroll, Casey M. Rand, Rajesh Kumar, Ronald M. Harper, Debra E. Weese-Mayer

Respir Physiol Neurobiol. Author manuscript; available in PMC 2011 Oct 31.

Published in final edited form as: Respir Physiol Neurobiol. 2010 Oct 31; 173(3): 322–335. Published online 2010 Jun 30. doi: 10.1016/j.resp.2010.06.013

PMCID:: PMC2946468

Abstract Article PDF–2.5M

Select item 177358417.

Association study of PHOX2B as a candidate gene for Hirschsprung’s disease

M Garcia-Barceló, M H Sham, V C H Lui, B L S Chen, J Ott, P K H Tam

Gut. 2003 Apr; 52(4): 563–567. doi: 10.1136/gut.52.4.563

PMCID:: PMC1773584

Abstract Article PDF–86K

Select item 118206518.

Germline PHOX2B Mutation in Hereditary Neuroblastoma

Yael P. Mosse, Marci Laudenslager, Deepa Khazi, Alex J. Carlisle, Cynthia L. Winter, Eric Rappaport, John M. Maris

Am J Hum Genet. 2004 Oct; 75(4): 727–730. doi: 10.1086/424530

PMCID:: PMC1182065

Article PDF–349K

Select item 118195319.

Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix-Lerosey, Anne Deville, Loïc de Pontual, Gudrun Schleiermacher, Carole Coze, Nicole Philip, Thierry Frébourg, Arnold Munnich, Stanislas Lyonnet, Olivier Delattre, Jeanne Amiel

Am J Hum Genet. 2004 Apr; 74(4): 761–764. Published online 2004 Mar 11. doi: 10.1086/383253

PMCID:: PMC1181953

Abstract Article PDF–169K

Select item 819059120.

Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations

Shio Mitsuzawa, Naoki Suzuki, Tetsuya Akiyama, Mitsuru Ishikawa, Takefumi Sone, Jiro Kawada, Ryo Funayama, Matsuyuki Shirota, Hiroaki Mitsuhashi, Satoru Morimoto, Kensuke Ikeda, Tomomi Shijo, Akiyuki Ohno, Naoko Nakamura, Hiroya Ono, Risako Ono, Shion Osana, Tadashi Nakagawa, Ayumi Nishiyama, Rumiko Izumi, Shohei Kaneda, Yoshiho Ikeuchi, Keiko Nakayama, Teruo Fujii, Hitoshi Warita, Hideyuki Okano, Masashi Aoki

Stem Cell Reports. 2021 Jun 8; 16(6): 1527–1541. Published online 2021 May 27. doi: 10.1016/j.stemcr.2021.04.021

PMCID:: PMC8190591

Abstract Article PDF–4.4M

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