Results 131 to 140 of about 87,553 (201)

Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations. [PDF]

J Neurodev Disord, 2020
Liu H, Barnes J, Pedrosa E, Herman NS, Salas F, Wang P, Zheng D, Lachman HM.   +7 more
europepmc   +1 more source

Tourette Syndrome Research Highlights from 2018 [version 1; peer review: 2 approved] [PDF]

, 2019
Black, Kevin J, Hartmann, Andreas, Rose, Olivia, Scharf, Jeremiah M, Worbe, Yulia   +4 more
core   +1 more source

Temper outbursts in Lowe syndrome: Characteristics, sequence, environmental context and comparison to Prader-Willi syndrome. [PDF]

J Appl Res Intellect Disabil, 2019
Cressey H, Oliver C, Crawford H, Waite J.   +3 more
europepmc   +1 more source

Gonadotrophin abnormalities in an infant with Lowe syndrome. [PDF]

Endocrinol Diabetes Metab Case Rep, 2017
Warner BE, Inward CD, Burren CP.
europepmc   +1 more source

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. [PDF]

Hum Mol Genet, 2019
Festa BP, Berquez M, Gassama A, Amrein I, Ismail HM, Samardzija M, Staiano L, Luciani A, Grimm C, Nussbaum RL, De Matteis MA, Dorchies OM, Scapozza L, Wolfer DP, Devuyst O.   +14 more
europepmc   +1 more source

Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in <i>Dictyostelium discoideum</i>. [PDF]

Mol Biol Cell, 2019
Luscher A, Fröhlich F, Barisch C, Littlewood C, Metcalfe J, Leuba F, Palma A, Pirruccello M, Cesareni G, Stagi M, Walther TC, Soldati T, De Camilli P, Swan LE.   +13 more
europepmc   +1 more source

[Lowe's syndrome].

Archivos argentinos de pediatria, 1971
F, De Elizalde, C, Cambiano, J C, Gravano, M, Musso, M V, Beraldi, R, Reca   +5 more
openaire   +1 more source

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. [PDF]

Genes (Basel), 2018
Suarez-Artiles L, Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F.   +3 more
europepmc   +1 more source

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. [PDF]

J Am Soc Nephrol, 2017
Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S.   +9 more
europepmc   +1 more source

Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome. [PDF]

Eye (Lond), 2016
Mikhail M, Modabber M, Koenekoop RK, Braverman N, Khan A.   +4 more
europepmc   +1 more source