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Select item 107257331.

Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report

Nasatya Khadka, Pooja KC, Shailendra Sharma, Sandesh Sharma, Sumugdha Rayamajhi

Cureus. 2023 Nov; 15(11): e48969. Published online 2023 Nov 17. doi: 10.7759/cureus.48969

PMCID:: PMC10725733

Abstract Article PDF–971K

Select item 107212342.

“Knee-Ding” a Diagnosis: A Case of Nail Patella Syndrome

Sosi Dzhugarian, Sevag Hamamah, Amanda Frugoli, Angelica Shepard

Cureus. 2023 Nov; 15(11): e48805. Published online 2023 Nov 14. doi: 10.7759/cureus.48805

PMCID:: PMC10721234

Abstract Article PDF–439K

Select item 106766253.

Nail-Patella Syndrome: A Case Series From Northern India

Ganesh S Dharmshaktu, Ishwar S Dharmshaktu

Cureus. 2023 Oct; 15(10): e47792. Published online 2023 Oct 27. doi: 10.7759/cureus.47792

PMCID:: PMC10676625

Abstract Article PDF–1.8M

Select item 99227804.

Total Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome

Teruya Ishibashi, Tetsuya Tomita, Masashi Tamaki, Toshitaka Fujito, Seiji Okada

Arthroplast Today. 2023 Apr; 20: 101099. Published online 2023 Jan 28. doi: 10.1016/j.artd.2023.101099

PMCID:: PMC9922780

Abstract Article PDF–1.1M

Select item 98081245.

Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature

Nicola Pallozzi Lavorante, Michele Iester, Chiara Bonzano, Alessandro Bagnis, Carlo Enrico Traverso, Carlo Alberto Cutolo

Case Rep Ophthalmol. 2022 Sep-Dec; 13(3): 984–990. Published online 2022 Nov 24. doi: 10.1159/000527234

PMCID:: PMC9808124

Abstract Article PDF–626K

Select item 92353076.

Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up

Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Giedre Grigelioniene, Anna Hammarsjö

Front Endocrinol (Lausanne) 2022; 13: 862908. Published online 2022 Jun 13. doi: 10.3389/fendo.2022.862908

PMCID:: PMC9235307

Abstract Article PDF–2.2M

Select item 90822087.

Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings

Hafsa Z. Zuberi, Ashika Angirekula, Muhammad R. Akram, Karanjit S. Kooner

Case Rep Ophthalmol. 2022 Jan-Apr; 13(1): 227–233. Published online 2022 Mar 29. doi: 10.1159/000523984

PMCID:: PMC9082208

Abstract Article PDF–647K

Select item 87210228.

Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome – A Case Report

Antonio Filipe Serrano, Pedro Manuel Serrano

Int Med Case Rep J. 2021; 14: 871–876. Published online 2021 Dec 29. doi: 10.2147/IMCRJ.S345262

PMCID:: PMC8721022

Abstract Article PDF–1.5M

Select item 85977879.

Retrospective Diagnosis of Nail-patella Syndrome

Zaheer A. Virani, Prashant Rajput, Hepal Vora, Bharat V. Shah

Indian J Nephrol. 2021 Sep-Oct; 31(5): 485–487. Published online 2021 Feb 20. doi: 10.4103/ijn.IJN_172_20

PMCID:: PMC8597787

Abstract Article PDF–676K

Select item 845262510.

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Endika Haro, Florence Petit, Charmaine U. Pira, Conor D. Spady, Sara Lucas-Toca, Lauren I. Yorozuya, Austin L. Gray, Fabienne Escande, Anne-Sophie Jourdain, Andy Nguyen, Florence Fellmann, Jean-Marc Good, Christine Francannet, Sylvie Manouvrier-Hanu, Marian A. Ros, Kerby C. Oberg

Nat Commun. 2021; 12: 5533. Published online 2021 Sep 20. doi: 10.1038/s41467-021-25844-5

PMCID:: PMC8452625

Abstract Article PDF–8.7M

Select item 823659211.

Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl

Ling Hou, Yue Du, Yubin Wu, Yue Zeng, Chengguang Zhao

Front Pediatr. 2021; 9: 638630. Published online 2021 Jun 14. doi: 10.3389/fped.2021.638630

PMCID:: PMC8236592

Abstract Article PDF–965K

Select item 815187412.

Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

Sara Bech, Annemette Løkkegaard, Troels T. Nielsen, Anne Nørremølle, Sabine Grønborg, Lis Hasholt, Gudrun K. Steffensen, Gabor Graehn, Jess H. Olesen, Niels Tommerup, Yuan Mang, Mads Bak, Jørgen E. Nielsen, Hans Eiberg, Lena E. Hjermind

Mov Disord. 2020 Dec; 35(12): 2343–2347. Published online 2020 Sep 19. doi: 10.1002/mds.28244

PMCID:: PMC8151874

Abstract Article PDF–505K

Select item 804987613.

Robotic-Assisted Lateral Unicompartmental Knee Arthroplasty in a Patient With Nail-Patella Syndrome

Rushabh M. Vakharia, Zaimary A. Meneses, Andrew D. Ardeljan, Martin W. Roche

Arthroplast Today. 2021 Apr; 8: 171–175. Published online 2021 Apr 2. doi: 10.1016/j.artd.2021.02.018

PMCID:: PMC8049876

Abstract Article PDF–1.0M

Select item 794936214.

Diagnosing nail-patella syndrome: can it be so simple?

Rohit Sasidharan, Neeraj Gupta, Nisha Toteja, Bharti Yadav

BMJ Case Rep. 2021; 14(3): e241833. Published online 2021 Mar 10. doi: 10.1136/bcr-2021-241833

PMCID:: PMC7949362

Abstract Article PDF–370K

Select item 760808815.

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome

Yutaka Harita, Seiya Urae, Riki Akashio, Tsuyoshi Isojima, Kenichiro Miura, Takeshi Yamada, Katsusuke Yamamoto, Yasunori Miyasaka, Masayuki Furuyama, Tsukasa Takemura, Yoshimitsu Gotoh, Hideki Takizawa, Keiichi Tamagaki, Atsushi Ozawa, Akira Ashida, Motoshi Hattori, Akira Oka, Sachiko Kitanaka

Eur J Hum Genet. 2020 Oct; 28(10): 1414–1421. Published online 2020 May 26. doi: 10.1038/s41431-020-0655-3