PMC Articles for MedGen (Select 339002) - PMC

Ramakrishna P. Alur, Camasamudram Vijayasarathy, Jacob D. Brown, Mohit Mehtani, Ighovie F. Onojafe, Yuri V. Sergeev, Elangovan Boobalan, MaryPat Jones, Ke Tang, Haiquan Liu, Chun-hong Xia, Xiaohua Gong, Brian P. Brooks

PLoS Genet. 2010 Mar; 6(3): e1000870. Published online 2010 Mar 5. doi: 10.1371/journal.pgen.1000870

PMCID:: PMC2832668

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Select item 97644306.

Overcoming Communication Barriers: An evaluation of communication devices for healthcare providers wearing powered air-purifying respirators (PAPRs)

Trevor Hebenstreit, Geoffrey Ho, Amy Tronnier, Everett Chu, Ivy Benjenk, Paul Dangerfield, Ryan Keneally, Timothy Liu, Marian Sherman

Perioper Care Oper Room Manag. 2021 Jun; 23: 100163. Published online 2021 Mar 9. doi: 10.1016/j.pcorm.2021.100163

PMCID:: PMC9764430

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Select item 95502007.

De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity

Maryam Ali, Michael Chang, Monique Leys

Cureus. 2022 Sep; 14(9): e29026. Published online 2022 Sep 11. doi: 10.7759/cureus.29026

PMCID:: PMC9550200

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Resolving severe oligohydramnios as an early prenatal presentation of renal coloboma syndrome—A report of two generations

Andrew Nguyen, Carla Campagnolo, Ghislain Hardy, Maha Saleh

Clin Case Rep. 2021 Sep; 9(9): e04758. Published online 2021 Sep 7. doi: 10.1002/ccr3.4758

PMCID:: PMC8423080

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Select item 69902499.

A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease

Ken Saida, Koichi Kamei, Naoya Morisada, Masao Ogura, Kentaro Ogata, Kentaro Matsuoka, Kandai Nozu, Kazumoto Iijima, Shuichi Ito

CEN Case Rep. 2020 Feb; 9(1): 19–23. Published online 2019 Sep 19. doi: 10.1007/s13730-019-00419-y

PMCID:: PMC6990249

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A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation

Jennifer Adam, Andrew C. Browning, Daniela Vaideanu, Laurence Heidet, Judith A. Goodship, John A. Sayer

Clin Kidney J. 2013 Aug; 6(4): 410–413. Published online 2013 Jun 23. doi: 10.1093/ckj/sft058

PMCID:: PMC4898336

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Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome

Toshiya Okumura, Kengo Furuichi, Tomomi Higashide, Mayumi Sakurai, Shin-ichi Hashimoto, Yasuyuki Shinozaki, Akinori Hara, Yasunori Iwata, Norihiko Sakai, Kazuhisa Sugiyama, Shuichi Kaneko, Takashi Wada

PLoS One. 2015; 10(11): e0142843. Published online 2015 Nov 16. doi: 10.1371/journal.pone.0142843

PMCID:: PMC4646464

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Typical Renal-coloboma Syndrome Phenotype in a Patient with a Submicroscopic Deletion of the PAX2 Gene

Kucinskas Laimutis, Craig Jackson, Xinjie Xu, Berta Warman, Rudaitis Sarunas, Pundziene Birute, Lisa A. Schimmenti, Gordana Raca

Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 15.

Published in final edited form as: Am J Med Genet A. 2012 Jun; 0(6): 1437–1441. Published online 2012 May 11. doi: 10.1002/ajmg.a.35342

PMCID:: PMC4098919

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Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report

Takeshi Sato, Koji Muroya, Junko Hanakawa, Yumi Asakura, Eihiko Takahashi, Yoshiyuki Shiroyanagi, Yuichiro Yamazaki, Yukichi Tanaka, Tomonobu Hasegawa, Masanori Adachi

Clin Pediatr Endocrinol. 2013 Jul; 22(3): 45–51. Published online 2013 Aug 1. doi: 10.1297/cpe.22.45

PMCID:: PMC3748283

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Inward Leakage in Tight-Fitting PAPRs

Frank C. Koh, Arthur T. Johnson, Timothy E. Rehak

J Environ Public Health. 2011; 2011: 473143. Published online 2011 May 12. doi: 10.1155/2011/473143

PMCID:: PMC3103902

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Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

L A Schimmenti, H E Cunliffe, L A McNoe, T A Ward, M C French, H H Shim, Y H Zhang, W Proesmans, A Leys, K A Byerly, S R Braddock, M Masuno, K Imaizumi, K Devriendt, M R Eccles

Am J Hum Genet. 1997 Apr; 60(4): 869–878.

PMCID:: PMC1712484

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The mouse Pax2^1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

Jack Favor, Rodica Sandulache, Angelika Neuhäuser-Klaus, Walter Pretsch, Bimal Chatterjee, Elfriede Senft, Wolfgang Wurst, Véronique Blanquet, Patricia Grimes, Ralf Spörle, Klaus Schughart

Proc Natl Acad Sci U S A. 1996 Nov 26; 93(24): 13870–13875. doi: 10.1073/pnas.93.24.13870

PMCID:: PMC19453

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Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia

Mark Stevenson, Alistair T. Pagnamenta, Silvia Reichart, Charlotte Philpott, Kate E. Lines, OxClinWGS, Caroline M. Gorvin, Karl Lhotta, Jenny C. Taylor, Rajesh V. Thakker

Am J Med Genet A. Author manuscript; available in PMC 2021 Jun 21.

Published in final edited form as: Am J Med Genet A. 2020 Nov 1; 182(11): 2521–2528. Published online 2020 Aug 9. doi: 10.1002/ajmg.a.61814

PMCID:: PMC7611017

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Mutations in PAX2 Associate with Adult-Onset FSGS

Moumita Barua, Emilia Stellacci, Lorenzo Stella, Astrid Weins, Giulio Genovese, Valentina Muto, Viviana Caputo, Hakan R. Toka, Victoria T. Charoonratana, Marco Tartaglia, Martin R. Pollak

J Am Soc Nephrol. 2014 Sep; 25(9): 1942–1953. Published online 2014 Mar 27. doi: 10.1681/ASN.2013070686