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About 110 results

ALLMedicine™ Oculocerebrorenal Syndrome Center

Research & Reviews  55 results

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, ...
https://doi.org/10.1111/bjh.17346
British Journal of Haematology; Egot M, Lasne D et. al.

Feb 2nd, 2021 - Lowe syndrome (LS) is an oculocerebrorenal syndrome of Lowe (OCRL1) genetic disorder resulting in a defect of the OCRL protein, a phosphatidylinositol-4,5-bisphosphate 5-phosphatase containing various domains including a Rho GTPase-activating prot...

Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.
https://doi.org/10.1016/j.ejmg.2020.104022
European Journal of Medical Genetics; Dumic KK, Anticevic D et. al.

Jul 27th, 2020 - The oculocerebrorenal syndrome of Lowe (LS) is a rare, progressive, multisystemic X-linked disorder caused by mutations in OCRL gene. Patients classically present with ocular abnormalities including bilateral congenital cataracts and glaucoma, int...

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.
https://doi.org/10.1177/1120672120920544
European Journal of Ophthalmology; Ma X, Ning K et. al.

Apr 28th, 2020 - Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patients. Al...

Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825338
Journal of Medical Case Reports; Tatsi P, Papanikolaou GE et. al.

Nov 4th, 2019 - Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans-Golgi n...

Lowe Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/lowe/

Apr 17th, 2019 - Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impai...

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Clinicaltrials.gov  55 results

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, ...
https://doi.org/10.1111/bjh.17346
British Journal of Haematology; Egot M, Lasne D et. al.

Feb 2nd, 2021 - Lowe syndrome (LS) is an oculocerebrorenal syndrome of Lowe (OCRL1) genetic disorder resulting in a defect of the OCRL protein, a phosphatidylinositol-4,5-bisphosphate 5-phosphatase containing various domains including a Rho GTPase-activating prot...

Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.
https://doi.org/10.1016/j.ejmg.2020.104022
European Journal of Medical Genetics; Dumic KK, Anticevic D et. al.

Jul 27th, 2020 - The oculocerebrorenal syndrome of Lowe (LS) is a rare, progressive, multisystemic X-linked disorder caused by mutations in OCRL gene. Patients classically present with ocular abnormalities including bilateral congenital cataracts and glaucoma, int...

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.
https://doi.org/10.1177/1120672120920544
European Journal of Ophthalmology; Ma X, Ning K et. al.

Apr 28th, 2020 - Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patients. Al...

Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825338
Journal of Medical Case Reports; Tatsi P, Papanikolaou GE et. al.

Nov 4th, 2019 - Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans-Golgi n...

Lowe Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/lowe/

Apr 17th, 2019 - Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impai...

see more →