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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Nov 9, 2024. (Total: 233365Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Senior Loken Syndrome[original query]
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Human mutation 2005 Apr 25 (4): 411.
Hoefele Julia, Sudbrak Ralf, Reinhardt Richard, Lehrack Silvia, Hennig Steffen, Imm Anita, Muerb Ulla, Utsch Boris, Attanasio Massimo, O'Toole John F, Otto Edgar, Hildebrandt Friedhe
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Journal of medical genetics 2011 Feb 48 (2): 105-16.
Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm,
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960) 2011 Jan 129 (1): 81-7.
Stone Edwin M, Cideciyan Artur V, Aleman Tomas S, Scheetz Todd E, Sumaroka Alexander, Ehlinger Mary A, Schwartz Sharon B, Fishman Gerald A, Traboulsi Elias I, Lam Byron L, Fulton Anne B, Mullins Robert F, Sheffield Val C, Jacobson Samuel
Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families.
Iranian journal of kidney diseases 2018 8 12 (4): 240-242.
Hussain Sofia, Akhtar Naureen, Qamar Reem, Khan Naima, Naeem Muhamm
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Molecular vision 2020 3 26 26-35.
Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Ji
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Heliyon 2024 1 10 (1): e23257.
Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi L
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