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Quoted phrase not found in phrase index: "Microcephaly 1, primary, autosomal recessive"
Page 1
Brothers with Smith-Lemli-Opitz syndrome.
Kelly MN, Tuli SY, Tuli SS, Stern MA, Giordano BP. Kelly MN, et al. J Pediatr Health Care. 2015 Jan-Feb;29(1):97-103. doi: 10.1016/j.pedhc.2014.04.006. Epub 2014 Jun 20. J Pediatr Health Care. 2015. PMID: 24954735
Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detecti …
Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for p …
PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.
Miyamoto T, Akutsu SN, Fukumitsu A, Morino H, Masatsuna Y, Hosoba K, Kawakami H, Yamamoto T, Shimizu K, Ohashi H, Matsuura S. Miyamoto T, et al. Hum Mol Genet. 2017 Nov 15;26(22):4429-4440. doi: 10.1093/hmg/ddx330. Hum Mol Genet. 2017. PMID: 28973348
Primary microcephaly (MCPH) is an autosomal recessive disorder characterized by congenital reduction of head circumference. ...It was shown that a mitotic kinase, Polo-like kinase 1 (PLK1), is required for the maintenance of spindle orientation …
Primary microcephaly (MCPH) is an autosomal recessive disorder characterized by congenital reduction of head cir …
Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL.
Kitagawa D, Kohlmaier G, Keller D, Strnad P, Balestra FR, Flückiger I, Gönczy P. Kitagawa D, et al. J Cell Sci. 2011 Nov 15;124(Pt 22):3884-93. doi: 10.1242/jcs.089888. Epub 2011 Nov 18. J Cell Sci. 2011. PMID: 22100914
Patients with MCPH (autosomal recessive primary microcephaly) exhibit impaired brain development, presumably due to the compromised function of neuronal progenitors. Seven MCPH loci have been identified, including one that encodes centrosome protein 4. …
Patients with MCPH (autosomal recessive primary microcephaly) exhibit impaired brain development, presumably due …
Resolution of cystoid macular edema with topical carbonic anhydrase inhibitor in a patient with retinal dystrophy associated with Cohen syndrome.
Sevik MO, Aykut A, Şahin Ö. Sevik MO, et al. Ophthalmic Genet. 2021 Oct;42(5):619-623. doi: 10.1080/13816810.2021.1925928. Epub 2021 May 11. Ophthalmic Genet. 2021. PMID: 33974487
Background: Cohen Syndrome (CS) is an autosomal recessive multisystemic disorder characterized by various ophthalmologic findings, including retinal dystrophy and associated cystoid macular edema (CME), in which there was no known effective treatment approach.Materi …
Background: Cohen Syndrome (CS) is an autosomal recessive multisystemic disorder characterized by various ophthalmologic findi …