Results 101 to 110 of about 13,537 (162)

Clinical utility gene card for: Lowe syndrome. [PDF]

Eur J Hum Genet, 2015
Bökenkamp A, Levtchenko E, Recker F, Ludwig M.   +3 more
europepmc   +1 more source

The cellular and physiological functions of the Lowe syndrome protein OCRL1. [PDF]

Traffic, 2014
Mehta ZB, Pietka G, Lowe M.
europepmc   +1 more source

Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. [PDF]

Clin Kidney J, 2015
Butani L.
europepmc   +1 more source

A genetic and physiological model of renal dysfunction in Lowe syndrome

Ramesh NA, Kataria V, Lama IS, Thakur R, Ghosh A, Sharma S, Venugopal A, Vasudevan A, Padinjat R.   +8 more
europepmc   +1 more source

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells. [PDF]

Mol Autism, 2018
Barnes J, Salas F, Mokhtari R, Dolstra H, Pedrosa E, Lachman HM.   +5 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

Cerebral Cortex Morphometry and Relaxometry in Male Children With Fragile X Syndrome and Autism. [PDF]

Brain Behav
Guerrero-Gonzalez JM, Lowe AK, Kecskemeti SR, Travers BG, Alexander AL, Sterling AM.   +5 more
europepmc   +1 more source

Identification of Two Novel Variants in <i>CRYGD</i> and <i>OCRL</i> Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing. [PDF]

Hum Mutat
Zhuang J, Huang N, Chen YE, Lou H, Wang J, Fu W, Chen C.   +6 more
europepmc   +1 more source

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LOWES SYNDROME

Acta Paediatrica, 1973
SummaryTwo siblings, a boy and a girl, with characteristic features of the oculo‐cerebro‐renal syndrome of Lowe are described. In both cases the impaired renal function was a predominant feature of the disease, and both died at the age of 3–4 months.
K B, Cyvin, J, Weidemann, J, Bathen
openaire   +2 more sources