Results 91 to 100 of about 7,870 (178)

Case Report: Identification of two novel <i>ALMS1</i> variants in a patient with a ciliopathy resembling Alström syndrome. [PDF]

Front Genet
Ran CQ, Yang M, Chen L, Liu X.
europepmc   +1 more source

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies. [PDF]

Eur J Clin Invest
Aresi C, Tonelli F, Mazzotta C, Serpieri V, Masiero C, Torriani C, Villani S, Valente EM, Forlino A.   +8 more
europepmc   +1 more source

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies. [PDF]

Genome Biol
Aarts EM, Laman Trip DS, Neatu R, Martin CG, Riley B, Kraus A, Green A, Al-Hamed MH, Armstrong RE, Sayer JA, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome. [PDF]

J Clin Med
Li M, Li S, Cao Y, Sun A, Qu J.
europepmc   +1 more source

Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis. [PDF]

Biomed Res Int
Dong Q, Zhu J, Liu J, Xu H.
europepmc   +1 more source

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts. [PDF]

Genome Med
Favier A, Chounta S, Garcia A, Jabot-Hanin F, Chen X, Garcelon N, Burgun A, Higueras M, Guilloux A, Benmerah A, Martin Y, Billot K, Rozet JM, Perrault I, Cormier-Daire V, Huber C, Zaidan M, Attie-Bitach T, Saunier S, Rausell A.   +19 more
europepmc   +1 more source

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

Front Genet
Chretien M, Osouf J, Abel C, Afenjar A, Attie-Bitach T, Brischoux-Boucher E, Burglen L, Calmels N, Chassaing N, Courtin T, Delanne J, Doco-Fenzy M, Dubourg C, Durand B, Chehadeh SE, Faivre L, Garde A, Ginglinger E, Haushalter V, Haye D, Heide S, Heidet L, Heron D, Jacquin C, Lambert L, Lamouche JB, Laugel V, Bechec AL, Lehalle D, Michel-Calemard L, Ramirez EM, Muller J, Odent S, Patat O, Piard J, Poirsier C, Putoux A, Quelin C, Racine C, Sananes N, Schalk A, Scheidecker S, Thauvin-Robinet C, Valence S, Weingertner AS, Wourms J, Dollfus H, Gerard B, Schluth-Bolard C, Schaefer E.   +49 more
europepmc   +1 more source

Correction: Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis. [PDF]

Sci Rep
Epting D, Devane J, Mertes R, Kayser S, Helmstädter M, Metzger P, Boerries M, Bergmann C, Ott E.   +8 more
europepmc   +1 more source

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

Ciliopathies in Complex Congenital Heart Disease: Molecular Genetics, Embryologic Mechanisms and Clinical Implications. [PDF]

Genes (Basel)
Gagliardi MF, Micaglio E, Micheletti A, Benedetti S, Giordano A, Alonzo BM, Guglielmi G, Negura DG, Giamberti A, Chessa M.   +9 more
europepmc   +1 more source