Gur M - Search Results

1

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Shahrour MA, Ashhab M, Edvardson S, Gur M, Abu-Libdeh B, Elpeleg O. Shahrour MA, et al. Among authors: gur m. Neurogenetics. 2017 Jul;18(3):135-139. doi: 10.1007/s10048-017-0515-7. Epub 2017 May 10. Neurogenetics. 2017. PMID: 28493104

2

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Harel T, Levy-Lahad E, Daana M, Mechoulam H, Horowitz-Cederboim S, Gur M, Meiner V, Elpeleg O. Harel T, et al. Among authors: gur m. Eur J Hum Genet. 2019 Aug;27(8):1315-1319. doi: 10.1038/s41431-019-0380-y. Epub 2019 Apr 11. Eur J Hum Genet. 2019. PMID: 30976112 Free PMC article.

3

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Sheffer R, Gur M, Brooks R, Salah S, Daana M, Fraenkel N, Eisenstein E, Rabie M, Nevo Y, Jalas C, Elpeleg O, Edvardson S, Harel T. Sheffer R, et al. Among authors: gur m. Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11. Eur J Hum Genet. 2019. PMID: 30976113 Free PMC article.

4

PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.

Shahroor MA, Lasorsa FM, Porcelli V, Dweikat I, Di Noia MA, Gur M, Agostino G, Shaag A, Rinaldi T, Gasparre G, Guerra F, Castegna A, Todisco S, Abu-Libdeh B, Elpeleg O, Palmieri L. Shahroor MA, et al. Among authors: gur m. J Clin Endocrinol Metab. 2022 Apr 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. J Clin Endocrinol Metab. 2022. PMID: 34971397

5

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.

Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y. Admoni O, et al. Among authors: gur m. Clin Endocrinol (Oxf). 2006 Jun;64(6):645-51. doi: 10.1111/j.1365-2265.2006.02521.x. Clin Endocrinol (Oxf). 2006. PMID: 16712666

6

Chest computed tomography scores in patients with cystic fibrosis colonized with methicillin-resistant Staphylococcus aureus.

Gur M, Spinelli E, Tridello G, Baltieri S, Pinali L, Montemezzi S, Bentur L, Assael BM. Gur M, et al. Clin Respir J. 2018 Feb;12(2):779-785. doi: 10.1111/crj.12594. Epub 2017 May 4. Clin Respir J. 2018. PMID: 27925453

7

Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly.

Gur M, Bendelac-Kapon L, Shabtai Y, Pillemer G, Fainsod A. Gur M, et al. Front Cell Dev Biol. 2022 Mar 14;10:844619. doi: 10.3389/fcell.2022.844619. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35372345 Free PMC article.

8

Retinoic Acid is Required for Normal Morphogenetic Movements During Gastrulation.

Gur M, Edri T, Moody SA, Fainsod A. Gur M, et al. Front Cell Dev Biol. 2022 Apr 21;10:857230. doi: 10.3389/fcell.2022.857230. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35531100 Free PMC article.

9

Oct-3/4 regulates stem cell identity and cell fate decisions by modulating Wnt/β-catenin signalling.

Abu-Remaileh M, Gerson A, Farago M, Nathan G, Alkalay I, Zins Rousso S, Gur M, Fainsod A, Bergman Y. Abu-Remaileh M, et al. Among authors: gur m. EMBO J. 2010 Oct 6;29(19):3236-48. doi: 10.1038/emboj.2010.200. Epub 2010 Aug 24. EMBO J. 2010. PMID: 20736927 Free PMC article.

10

Negative autoregulation of Oct3/4 through Cdx1 promotes the onset of gastrulation.

Rousso SZ, Schyr RB, Gur M, Zouela N, Kot-Leibovich H, Shabtai Y, Koutsi-Urshanski N, Baldessari D, Pillemer G, Niehrs C, Fainsod A. Rousso SZ, et al. Among authors: gur m. Dev Dyn. 2011 Apr;240(4):796-807. doi: 10.1002/dvdy.22588. Epub 2011 Feb 28. Dev Dyn. 2011. PMID: 21360791 Free article.

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