Results 131 to 140 of about 4,241 (146)

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis. [PDF]

Eur J Hum Genet
Sentell ZT, Nurcombe ZW, Mougharbel L, Anastasio N, Rivière JB, Babayeva S, Goodyer PR, Torban E, Kitzler TM.   +8 more
europepmc   +1 more source

<i>ANKS6</i> Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases. [PDF]

Genes (Basel)
Almohlesy LS, Imtiaz F, Tulbah M, Alhashem A, Alhajooj M, Alhashem A, Mabillard H, Sayer JA, Alharbi KK, Al-Hamed MH.   +9 more
europepmc   +1 more source

Nephronophthisis type 1 in an adolescent girl: peculiarities of diagnosis and course

Natalia Zaikova, V. A. Magon, М. П. Сафонова, Л. С. Балева   +3 more
openalex   +1 more source

A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report

Randah Abdullah Dahlan, Roaa Hani Fairoozy   +1 more
openalex   +1 more source

Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4. [PDF]

J Clin Lab Anal
Miri Karam Z, Gohari AK, Khabaz MJR, Yari A, Meybodi SME, Attari R, Torabi M, Vafaeie F, Moraddahande FM, Amiri S, Saeidi K.   +10 more
europepmc   +1 more source

Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea. [PDF]

Genes (Basel)
Song JR, Jung S, Joo K, Choi HI, Kim YJ, Woo SJ.   +5 more
europepmc   +1 more source

IL1β is induced in nephronophthisis but does not mediate kidney damage

G M Ferri, Mariyam El Hamdaoui, Jean Martin, E. Wolfgang Kuehn, Frank Bienaimé, Sophie Saunier, Amandine Viau   +6 more
openalex   +1 more source

Ameliorative Effect of an Anti-MicroRNA-21 Oligonucleotide on Animal and Human Models of Cystic Kidney Disease. [PDF]

Kidney360
Noda Y, Noda Y, Kato N, Sato F, Suzuki Y, Tsubota S, Kitai H, Komatsu S, Tanaka A, Sato Y, Maeda K, Furuhashi K, Ishimoto T, Kosugi T, Yamaguchi T, Nagao S, Kamiya Y, Kadomatsu K, Asanuma H, Maruyama S.   +19 more
europepmc   +1 more source

Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation. [PDF]

Radiol Case Rep
Al-Obaidi AD, Al-Obiade R, Al-Fatlawi N, Al-Badri SG, Al-Musawi M, Hashim HT, Al-Zeena A, Al-Obaidi MN, Hashim AS, Al-Awad A.   +9 more
europepmc   +1 more source