U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 12

1.
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia
Shijin Wen, Xiaoshan Min, Ying Zhu, Xia Zhou
BMC Pediatr. 2022; 22: 305. Published online 2022 May 24. doi: 10.1186/s12887-021-02992-7
PMCID:
PMC9128117
AbstractArticlePDF–1.2M
2.
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations
Zhi-Lin Ren, Hou-Bin Zhang, Lin Li, Zheng-Lin Yang, Li Jiang
Zool Res. 2022 May 18; 43(3): 442–456. doi: 10.24272/j.issn.2095-8137.2021.387
PMCID:
PMC9113982
AbstractArticlePDF–11M
3.
Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
Naoya Morisada, Riku Hamada, Kenichiro Miura, Ming Juan Ye, Kandai Nozu, Motoshi Hattori, Kazumoto Iijima
CEN Case Rep. 2020 Aug; 9(3): 260–265. Published online 2020 Apr 6. doi: 10.1007/s13730-020-00472-y
PMCID:
PMC7320120
AbstractArticlePDF–1.4M
4.
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
Dongheon Surl, Saeam Shin, Seung-Tae Lee, Jong Rak Choi, Junwon Lee, Suk Ho Byeon, Sueng-Han Han, Hyun Taek Lim, Jinu Han
Mol Vis. 2020; 26: 26–35. Published online 2020 Feb 24.
PMCID:
PMC7043639
AbstractArticlePDF–1.7M
5.
Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype
Christin Hanke-Gogokhia, Vince A. Chiodo, William W. Hauswirth, Jeanne M. Frederick, Wolfgang Baehr
Mol Vis. 2018; 24: 834–846. Published online 2018 Dec 30.
PMCID:
PMC6334983
AbstractArticlePDF–6.2M
6.
Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome
Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Noriyuki Murai, Zenichi Matsui, Hiroyuki Kubo, Hiroyuki Satoh, Senya Matsufuji, Tsuyoshi Takamura, Takashi Yokoo, Yoshihiro Omori, Takahisa Furukawa, Takeshi Iwata, Tadashi Nakano
Sci Rep. 2018; 8: 16733. Published online 2018 Nov 13. doi: 10.1038/s41598-018-35152-6
PMCID:
PMC6233217
AbstractArticlePDF–3.7M
7.
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1974–1983. Published online 2017 Nov 16. doi: 10.2215/CJN.01280217
PMCID:
PMC5718263
AbstractArticle
8.
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
Hee Gyung Kang, Hyun Kyung Lee, Yo Han Ahn, Je-Gun Joung, Jaeyong Nam, Nayoung K D Kim, Jung Min Ko, Min Hyun Cho, Jae Il Shin, Joon Kim, Hye Won Park, Young Seo Park, Il-Soo Ha, Woo Yeong Chung, Dae-Yeol Lee, Su Young Kim, Woong Yang Park, Hae Il Cheong
Exp Mol Med. 2016 Aug; 48(8): e251. Published online 2016 Aug 5. doi: 10.1038/emm.2016.63
PMCID:
PMC5007639
AbstractArticlePDF–610K
9.
Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome
Edwin M. Stone, Artur V. Cideciyan, Tomas S. Aleman, Todd E. Scheetz, Alexander Sumaroka, Mary A. Ehlinger, Sharon B. Schwartz, Gerald A. Fishman, Elias I. Traboulsi, Byron L. Lam, Anne B. Fulton, Robert F. Mullins, Val C. Sheffield, Samuel G. Jacobson
Arch Ophthalmol. Author manuscript; available in PMC 2014 Mar 13.
Published in final edited form as: Arch Ophthalmol. 2011 Jan; 129(1): 81–87. doi: 10.1001/archophthalmol.2010.330
PMCID:
PMC3952880
AbstractArticlePDF–2.0M
10.
WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome
RG Coussa, EA Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandtand, RK Koenekoop
Clin Genet. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Clin Genet. 2013 Aug; 84(2): 150–159. doi: 10.1111/cge.12196
PMCID:
PMC3904424
AbstractArticlePDF–6.2M
11.
Nephronophthisis
Rémi Salomon, Sophie Saunier, Patrick Niaudet
Pediatr Nephrol. 2009; 24(12): 2333–2344. Published online 2008 Jul 8. doi: 10.1007/s00467-008-0840-z
PMCID:
PMC2770134
AbstractArticlePDF–351K
12.
Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36
Maria J. Schuermann, Edgar Otto, Achim Becker, Katrin Saar, Franz Rüschendorf, Bettine C. Polak, Sirpa Ala-Mello, Julia Hoefele, Alexander Wiedensohler, Maria Haller, Heymut Omran, Peter Nürnberg, Friedhelm Hildebrandt
Am J Hum Genet. 2002 May; 70(5): 1240–1246. Published online 2002 Mar 27. doi: 10.1086/340317
PMCID:
PMC447598
AbstractArticlePDF–191K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

You are here: NCBI > Literature > PubMed Central (PMC)
Support Center