PMC Articles for MedGen (Select 1633142) - PMC

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

Abstract Article PDF–606K

Select item 52605104.

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Carlos I. Rivera-Pedroza, Jimena Barraza-García, Beatriz Paumard-Hernández, Julian Nevado, Carlos Orbea-Gallardo, Jaime Sánchez del Pozo, Karen E. Heath

Mol Syndromol. 2017 Jan; 8(1): 30–35. Published online 2016 Nov 17. doi: 10.1159/000452609

PMCID:: PMC5260510

Abstract Article PDF–553K

Select item 93714965.

Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation

Meiying Cai, Min Lin, Na Lin, Liangpu Xu, Hailong Huang

Medicine (Baltimore) 2022 Aug 12; 101(32): e30003. Published online 2022 Aug 12. doi: 10.1097/MD.0000000000030003

PMCID:: PMC9371496

Abstract Article PDF–886K

Select item 80609816.

CTU findings of duplex kidney in kidney: A rare duplicated renal malformation

Nanai Xie, Xu Huang, Jie Zhou, Heng Zhang, Wanling Ma

Open Med (Wars) 2021; 16(1): 651–654. Published online 2021 Apr 19. doi: 10.1515/med-2021-0271

PMCID:: PMC8060981

Abstract Article PDF–946K

Select item 64392297.

Congenital kidney malformation: Computed tomography and scintigraphy findings of renal reversed rotation

Francesca Di Giuliano, Eliseo Picchi, Adriano Lacchè, Alessio Bozzi, Yuri Cavaleri, Francesco Garaci, Roberto Floris

Radiol Case Rep. 2019 Jun; 14(6): 678–682. Published online 2019 Mar 25. doi: 10.1016/j.radcr.2019.03.004

PMCID:: PMC6439229

Abstract Article PDF–1.4M

Select item 31595738.

The D153del Mutation in GNB3 Gene Causes Tissue Specific Signalling Patterns and an Abnormal Renal Morphology in Rge Chickens

Hemanth Tummala, Stewart Fleming, Paul M. Hocking, Daniel Wehner, Zahid Naseem, Manir Ali, Christopher F. Inglehearn, Nikolai Zhelev, Douglas H. Lester

PLoS One. 2011; 6(8): e21156. Published online 2011 Aug 22. doi: 10.1371/journal.pone.0021156

PMCID:: PMC3159573

Abstract Article PDF–4.0M

Select item 60366889.

Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report

Muhammad Usman Janjua, Xiao-dan Long, Zhao-hui Mo, Chang-sheng Dong, Ping Jin

J Med Case Rep. 2018; 12: 197. Published online 2018 Jul 9. doi: 10.1186/s13256-018-1736-6

PMCID:: PMC6036688

Abstract Article PDF–1.0M

Select item 778487410.

Rare heterozygous GDF6 variants in patients with renal anomalies

Helge Martens, Imke Hennies, Maike Getwan, Anne Christians, Anna-Carina Weiss, Frank Brand, Ann Christin Gjerstad, Arne Christians, Zoran Gucev, Robert Geffers, Tomáš Seeman, Andreas Kispert, Velibor Tasic, Anna Bjerre, Soeren S. Lienkamp, Dieter Haffner, Ruthild G. Weber

Eur J Hum Genet. 2020 Dec; 28(12): 1681–1693. Published online 2020 Jul 31. doi: 10.1038/s41431-020-0678-9

PMCID:: PMC7784874

Abstract Article PDF–10M

Select item 780860111.

Efficient multiplexed genome engineering with a polycistronic tRNA and CRISPR guide-RNA reveals an important role of detonator in reproduction of Drosophila melanogaster

Cristin Chon, Grace Chon, Yurika Matsui, Huiqing Zeng, Zhi-Chun Lai, Aimin Liu

PLoS One. 2021; 16(1): e0245454. Published online 2021 Jan 14. doi: 10.1371/journal.pone.0245454

Correction in:: PLoS One. 2021; 16(4): e0250188.

PMCID:: PMC7808601

Abstract Article PDF–2.3M

Select item 733093812.

Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review

Xue He, Huijun Shen, Haidong Fu, Chunyue Feng, Zhixia Liu, Yanyan Jin, Jianhua Mao

BMC Pediatr. 2020; 20: 327. Published online 2020 Jul 2. doi: 10.1186/s12887-020-02205-7

PMCID:: PMC7330938

Abstract Article PDF–2.3M

Select item 1093047513.

鳃耳综合征/鳃耳肾综合征的遗传学研究进展

陈岸海, 凌捷, 冯永

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jan 28; 47(1): 129–138. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210251

PMCID:: PMC10930475

Abstract Article PDF–710K

Select item 335112614.

Matrilysin (MMP-7) Inhibition of BMP-7 Induced Renal Tubular Branching Morphogenesis Suggests a Role in the Pathogenesis of Human Renal Dysplasia

John K. McGuire, Susanna Harju-Baker, Cliff Rims, Joong-Hyuk Sheen, Helen Liapis

J Histochem Cytochem. 2012 Mar; 60(3): 243–253. doi: 10.1369/0022155411435152

PMCID:: PMC3351126

Abstract Article PDF–1.9M

Select item 596733515.

A novel SNP in the 5’ regulatory region of organic anion transporter 1 is associated with chronic kidney disease

Chiao-Yin Sun, Mai-Szu Wu, Chin-Chan Lee, Shu-Hong Chen, Kang-Chieh Lo, Yau-Hung Chen

Sci Rep. 2018; 8: 8085. Published online 2018 May 24. doi: 10.1038/s41598-018-26460-y

PMCID:: PMC5967335

Abstract Article PDF–1.3M

Select item 500595716.

7q11.23 Duplication Syndrome: Physical Characteristics and Natural History

Colleen A. Morris, Carolyn B. Mervis, Alex P. Paciorkowski, Omar Abdul-Rahman, Sarah L. Dugan, Alan F. Rope, Patricia Bader, Laura G. Hendon, Shelley L. Velleman, Bonita P. Klein-Tasman, Lucy R. Osborne

Am J Med Genet A. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Am J Med Genet A. 2015 Dec; 167A(12): 2916–2935. Published online 2015 Sep 3. doi: 10.1002/ajmg.a.37340

PMCID:: PMC5005957

Abstract Article PDF–819K

Select item 789854717.

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

Stephanie Efthymiou, Marina Dutra‐Clarke, Reza Maroofian, Rauan Kaiyrzhanov, Marcello Scala, Javeria Reza Alvi, Tipu Sultan, Marilena Christoforou, Thi Tuyet Mai Nguyen, Kshitij Mankad, Barbara Vona, Aboulfazl Rad, Pasquale Striano, Vincenzo Salpietro, Maria J. Guillen Sacoto, Maha S. Zaki, Joseph G. Gleeson, Philippe M. Campeau, Bianca E. Russell, Henry Houlden

Epilepsia. 2021 Feb; 62(2): e35–e41. Published online 2021 Jan 7. doi: 10.1111/epi.16801

PMCID:: PMC7898547

Abstract Article PDF–945K

Select item 1046268118.

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

Marion Masingue, Olivia Cattaneo, Nicolas Wolff, Céline Buon, Damien Sternberg, Morgane Euchparmakian, Myriam Boex, Anthony Behin, Kamel Mamchaouhi, Thierry Maisonobe, Marie-Christine Nougues, Arnaud Isapof, Bertrand Fontaine, Julien Messéant, Bruno Eymard, Laure Strochlic, Stéphanie Bauché

Sci Rep. 2023; 13: 14054. Published online 2023 Aug 28. doi: 10.1038/s41598-023-41008-5