Results 211 to 220 of about 9,301 (255)

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

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa. [PDF]

Eur J Hum Genet
Whiting KR, Haer-Wigman L, Florijn RJ, van Beek R, Oud MM, Plomp AS, Boon CJF, Kroes HY, Roepman R.   +8 more
europepmc   +1 more source

RAB23loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome

Leong W, Tung W, Chui W, Wilkie AOM, Hor C.   +4 more
europepmc   +1 more source

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene. [PDF]

HGG Adv
Betz C, Reusch B, Langmann T, Habbig S, Beck BB, Bolz HJ.   +5 more
europepmc   +1 more source

Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing. [PDF]

Hum Genome Var
Nakajima E, Yokohama Y, Sugiyama S, Taketazu M, Mitsube K, Yamada T, Hammarsjö A, Grigelioniene G, Nishimura G, Makita Y.   +9 more
europepmc   +1 more source

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement. [PDF]

Cells
Hjeij R, Leslie J, Rizk H, Dworniczak B, Olbrich H, Raidt J, Bode SFN, Gardham A, Stals K, Al-Haggar M, Osman E, Crosby A, Eldesoky T, Baple E, Omran H.   +14 more
europepmc   +1 more source

Severe ciliopathy-related phenotypes in mice with dysregulation of tubulin polyglutamylation [PDF]

core   +1 more source

MOESM1 of Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons

, 2018
Judith G.M. Bergboer, Cameron Wyatt, Christina Austin‐Tse, Emre Yaksi, Iain A. Drummond   +4 more
openalex   +2 more sources

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. [PDF]

Pharmgenomics Pers Med
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY.   +9 more
europepmc   +1 more source

A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy? [PDF]

BMC Nephrol
Zhou W, Du Q, Liu Q, Liu X, Li L, Zhang H.   +5 more
europepmc   +1 more source