Results 111 to 120 of about 87,553 (201)

The oculocerebrorenal syndrome of Lowe: an update [PDF]

, 2016

core   +1 more source

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study

BMC Pregnancy and Childbirth
Background With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected.
Jianlong Zhuang, Qiulan Wei, Yuying Jiang, Shuhong Zeng, Haijuan Lou, Na Zhang, Chunnuan Chen   +6 more
doaj   +1 more source

Pathological pregnancy and psychological symptoms in women [Patološka trudnoća i psihički simptomi u žena] [PDF]

, 2012
Pregnancy is followed by many physiologic, organic and psychological changes and disorders, which can become more serious in pregnancy followed by complications, especially in women with pathological conditions during pregnancy. The purpose of this study
Bjelanović, Vedran, Babić, Dragan, Orešković, Slavko, Tomić, Vajdana, Martinac, Marko, Juras, Josip   +5 more
core  

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe

The Turkish Journal of Pediatrics, 2013
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction.
Rezan Topaloğlu, Michael Ludwig, Aslı Çelebi Tayfur   +2 more
doaj  

Mitochondrial structure and function in OCRL depleted cells

Frontiers in Cell and Developmental Biology
Lowe syndrome (LS) is an X-linked, recessive disease with a characteristic clinical triad of eye, brain, and kidney defects. LS results from mutations in the OCRL gene that encodes for inositol polyphosphate 5-phosphatase enzyme.
Ron George Philip, Ron George Philip, Priyanka Bhatia, Yojet Sharma, Yojet Sharma, Padinjat Raghu   +5 more
doaj   +1 more source

A deletion mutation along with a novel DNA variation in OCRL cause Lowe syndrome in a child with multiple secondary manifestations. [PDF]

Int J Ophthalmol, 2021
Paniri A, Fattahi S, Rasoulinejad A, Akhavan-Niaki H.   +3 more
europepmc   +1 more source

Ultrasound evaluation on carpal tunnel syndrome before and after bariatric surgery

Revista do Colégio Brasileiro de Cirurgiões
Objective:To evaluate the prevalence of carpal tunnel syndrome in candidates for bariatric surgery comparing with the non-obese population and verify the effects on it of bariatric treatment.
Adham do Amaral e Castro, Thelma Larocca Skare, Paulo Afonso Nunes Nassif, Alexandre Kaue Sakuma, Bruno Luiz Ariede, Wagner Haese Barros   +5 more
doaj   +1 more source

Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes. [PDF]

Hum Mol Genet, 2021
Ramadesikan S, Skiba L, Lee J, Madhivanan K, Sarkar D, De La Fuente A, Hanna CB, Terashi G, Hazbun T, Kihara D, Aguilar RC.   +10 more
europepmc   +1 more source

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome? [PDF]

Genes (Basel), 2021
Gianesello L, Arroyo J, Del Prete D, Priante G, Ceol M, Harris PC, Lieske JC, Anglani F.   +7 more
europepmc   +1 more source

Spartan Daily, November 18, 1982 [PDF]

, 1982
Volume 79, Issue 56https://scholarworks.sjsu.edu/spartandaily/6970/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core   +1 more source