PMC Articles for MedGen (Select 760690) - PMC

Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F. Giampietro, Nan Wu

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3469–3481. Published online 2022 Sep 26. doi: 10.1002/ajmg.a.62972

PMCID:: PMC10473889

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Select item 104364584.

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

Catarina I. Gonçalves, Josianne N. Carriço, Omneya M. Omar, Ebtesam Abdalla, Manuel C. Lemos

Front Endocrinol (Lausanne) 2023; 14: 1207425. Published online 2023 Aug 4. doi: 10.3389/fendo.2023.1207425

PMCID:: PMC10436458

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Select item 103417725.

Posterior Urethral Valves, Unilateral Vesicoureteral Reflux, and Renal Dysplasia (VURD) Syndrome: Long-Term Longitudinal Evaluation of the Kidney Function

Irene Paraboschi, Adele Giannettoni, Guglielmo Mantica, Alexios Polymeropoulos, Pankaj Mishra, Joanna Clothier, Massimo Garriboli

Int J Environ Res Public Health. 2023 Jul; 20(13): 6238. Published online 2023 Jun 27. doi: 10.3390/ijerph20136238

PMCID:: PMC10341772

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Select item 96819176.

Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations

Stefan Kohl, Fred E Avni, Peter Boor, Valentina Capone, William L Clapp, Diego De Palma, Tess Harris, Laurence Heidet, Alina C Hilger, Helen Liapis, Marc Lilien, Gianantonio Manzoni, Giovanni Montini, Susanna Negrisolo, Marie-Jeanne Pierrat, Ann Raes, Heiko Reutter, Michiel F Schreuder, Stefanie Weber, Paul J D Winyard, Adrian S Woolf, Franz Schaefer, Max C Liebau

Nephrol Dial Transplant. 2022 Dec; 37(12): 2351–2362. Published online 2022 Jun 30. doi: 10.1093/ndt/gfac207

PMCID:: PMC9681917

Article PDF–470K

Select item 95770147.

Case report: BCL-2 and CD31 immunoexpression related to clinical and histopathological evaluation of renal dysplasia in a Welsh Corgi Puppy

Trung Quang Le, Latticha Pluemhathaikij, Katriya Chankow, Araya Radtanakatikanon, Anudep Rungsipipat, Kasem Rattanapinyopituk

Front Vet Sci. 2022; 9: 995765. Published online 2022 Oct 4. doi: 10.3389/fvets.2022.995765

PMCID:: PMC9577014

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Select item 92367268.

Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

Raquel Segovia-Ortí, Natalia Espinosa de los Monteros Aliaga Cano, Javier Lumbreras, Diego de Sotto-Esteban, María Dolores Rodrigo

J Pediatr Genet. 2022 Jun; 11(2): 158–161. Published online 2020 Sep 7. doi: 10.1055/s-0040-1716399

PMCID:: PMC9236726

Article PDF–430K

Select item 88132179.

Artificial Intelligence Algorithm-Based Computed Tomography Image of Both Kidneys in Diagnosis of Renal Dysplasia

Yonghui Liu, Siai Tang

Comput Math Methods Med. 2022; 2022: 5823720. Published online 2022 Jan 27. doi: 10.1155/2022/5823720

Retraction in:: Comput Math Methods Med. 2023; 2023: 9834943.

PMCID:: PMC8813217

Article

Select item 881308510.

Targeted disruption of the histone lysine 79 methyltransferase Dot1L in nephron progenitors causes congenital renal dysplasia

Fenglin Wang, Jenny Ngo, Yuwen Li, Hongbing Liu, Chao-Hui Chen, Zubaida Saifudeen, Maria Luisa S Sequeira-Lopez, Samir S. El-Dahr

Epigenetics. 2021; 16(11): 1235–1250. Published online 2020 Dec 29. doi: 10.1080/15592294.2020.1861168

PMCID:: PMC8813085

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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

Alanna Strong, Gina O'Grady, Evelyn Shih, Jonathan R. Bishop, Kathleen Loomes, Tamir Diamond, Erum A. Hartung, William Wong, Sanmati Cuddapah, Anne Marie Cahill, Cuiping Hou, Diana Slater, Courtney Vaccaro, Deborah Watson, Dong Li, Hakon Hakonarson

Am J Med Genet A. 2021 Jul; 185(7): 2168–2174. Published online 2021 May 7. doi: 10.1002/ajmg.a.62215

PMCID:: PMC8360119

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Select item 835843612.

Comprehensive Metabolic Signature of Renal Dysplasia in Children. A Multiplatform Metabolomics Concept

Szymon Macioszek, Renata Wawrzyniak, Anna Kranz, Marta Kordalewska, Wiktoria Struck-Lewicka, Danuta Dudzik, Margot Biesemans, Michał Maternik, Aleksandra M. Żurowska, Michał J. Markuszewski

Front Mol Biosci. 2021; 8: 665661. Published online 2021 Jul 29. doi: 10.3389/fmolb.2021.665661

PMCID:: PMC8358436

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Expression of neuronal nitric oxide synthase and renin in dysplastic kidneys of young dogs

Akira YABUKI, Yu FURUSAWA, Noriaki MIYOSHI, Kazuyuki TANIGUCHI, Osamu YAMATO

J Vet Med Sci. 2021 May; 83(5): 837–840. Published online 2021 Apr 5. doi: 10.1292/jvms.21-0074

PMCID:: PMC8182329

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Select item 785390914.

Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Cláudia Teles-Silva, Francisca Martins, Sandra Costa, Paulo Soares, Gustavo Rocha, Filipa Flor-de-Lima, Helena Pinto, Carla Ramalho, Renata Oliveira, Otília Brandão, Hercília Guimarães

J Pediatr Genet. 2021 Mar; 10(1): 39–44. Published online 2020 Jan 22. doi: 10.1055/s-0039-1701043

PMCID:: PMC7853909

Article PDF–243K

Select item 775257315.

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

Haruka Kishi, Teruo Jojima, Takahiko Kogai, Toshie Iijima, Eriko Ohira, Dai Tanuma, Sachiyo Konno, Kanako Kato, Atsumi Kezuka, Kazumi Akimoto, Junko Sakumoto, Akira Hishinuma, Takuya Tomaru, Noriko Makita, Isao Usui, Yoshimasa Aso

Clin Case Rep. 2020 Dec; 8(12): 2619–2624. Published online 2020 Aug 14. doi: 10.1002/ccr3.3186

PMCID:: PMC7752573

Article PDF–606K

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TP63‐mutation as a cause of prenatal lethal multicystic dysplastic kidneys

Isabel Friedmann, Carla Campagnolo, Nancy Chan, Ghislain Hardy, Maha Saleh

Mol Genet Genomic Med. 2020 Nov; 8(11): e1486. Published online 2020 Sep 2. doi: 10.1002/mgg3.1486

PMCID:: PMC7667318

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Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome

Nobutaka Nishimura, Shunta Hori, Chihiro Omori, Makito Miyake, Satoshi Anai, Kazumasa Torimoto, Katsuya Aoki, Nobumichi Tanaka, Tatsuo Yoneda, Kiyohide Fujimoto

IJU Case Rep. 2020 Nov; 3(6): 244–247. Published online 2020 Jul 27. doi: 10.1002/iju5.12205

PMCID:: PMC7609182

Article PDF–445K

Select item 729936118.

Quercetin treatment reduces the severity of renal dysplasia in a beta-catenin dependent manner

Joanna Cunanan, Erin Deacon, Kristina Cunanan, Zifan Yang, Antje Ask, Lily Morikawa, Ekaterina Todorova, Darren Bridgewater

PLoS One. 2020; 15(6): e0234375. Published online 2020 Jun 17. doi: 10.1371/journal.pone.0234375

PMCID:: PMC7299361

Article PDF–4.3M

Select item 646057819.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Thomas R. W. Nixon, Allan Richards, Laura K. Towns, Gavin Fuller, Stephen Abbs, Philip Alexander, Annie McNinch, Richard N. Sandford, Martin P. Snead

Eur J Hum Genet. 2019 Mar; 27(3): 369–377. Published online 2018 Dec 19. doi: 10.1038/s41431-018-0316-y

PMCID:: PMC6460578

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Select item 642005820.

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

Lettie E. Rawlins, Hannah Jones, Olivia Wenger, Myat Aye, James Fasham, Gaurav V. Harlalka, Barry A. Chioza, Alexander Miron, Sian Ellard, Matthew Wakeling, Andrew H. Crosby, Emma L. Baple

Eur J Hum Genet. 2019 Apr; 27(4): 657–662. Published online 2019 Jan 8. doi: 10.1038/s41431-018-0306-0

PMCID:: PMC6420058

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