Results 211 to 220 of about 12,422 (262)

Bardet-Biedl syndrome: a rare cause of end-stage kidney disease. Case report. [PDF]

Ann Med Surg (Lond)
Bouchoual M, Dadi K, Cherradi I, Anibar S, Berrajaa M, Serbati N, El Ouazzani M, Jabrane M, El Minaoui M, Arrayhani M.   +9 more
europepmc   +1 more source

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis. [PDF]

Hum Mol Genet
Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa MM, Chung CF, Rivière JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM.   +15 more
europepmc   +1 more source

Co-occurrence of Peutz-Jeghers syndrome and unilateral multicystic dysplastic kidney: a case report. [PDF]

BMC Nephrol
Liu Y, Hu S, Gan Y, Fang Y.
europepmc   +1 more source

Loss of the Reissner Fiber and increased URP neuropeptide signaling underlie scoliosis in a zebrafish ciliopathy mutant

, 2019
Christine Vesque, Isabelle Anselme, Guillaume Pézeron, Yasmine Cantaut-Belarif, Alexis Eschstruth, Morgane Djebar, Diego López Santos, Hélène Le Ribeuz, Arnim Jenett, Hanane Khoury, Joëlle Véziers, Caroline Parmentier, Sylvie Schneider‐Maunoury   +12 more
openalex   +1 more source

Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report. [PDF]

Case Rep Ophthalmol
Pericak JM, Chin EK, Almeida DRP.
europepmc   +1 more source

Network-based framework for studying etiology and phenotype diversity in primary ciliopathies

Aarts E, Laman Trip D, Neatu R, Martin C, Riley B, Kraus A, Green A, Al-Hamed M, Armstrong R, Sayer J, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

Investigating the Role of <i>B9D1</i> in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review. [PDF]

Genes (Basel)
Campobasso G, Mercuri L, De Razza F, Cosentino A, Mele M, Monittola A, Congedo C, Calò MC, Scalcione C, D'Amuri A, Mauro S, Lattante S.   +11 more
europepmc   +1 more source

CCDC138 overexpression predicts poor prognosis and highlights ciliopathy-linked mechanisms in uterine corpus endometrial carcinoma. [PDF]

Front Mol Biosci
Wang A, Yang F, Zhang C, Li S, Fu H.
europepmc   +1 more source

Rare diseases and big data : biocomputing solutions towards knowledge-guided analyses : applications to ciliopathies

, 2016
Kirsley Chennen
openalex   +1 more source

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis. [PDF]

Genes (Basel)
Kulyamzin S, Leibu R, Newman H, Ehrenberg M, Goldenberg-Cohen N, Zayit-Soudry S, Mezer E, Rotenstreich Y, Deitch I, Panneman DM, Zur D, Chervinsky E, Shalev SA, Cremers FPM, Sharon D, Roosing S, Ben-Yosef T.   +16 more
europepmc   +1 more source