All individuals with variants in gene MPL

16 entries on 1 page. Showing entries 1 - 16.
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00000018 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000065 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000066 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000101 - PubMed: Bell 2011 - - - - - - - - - retinal disease diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization 1 1 Global Variome, with Curator vacancy
00248215 - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - cancer, breast 54y ductal breast cancer, subtype luminal A 1 1 Zdenek Kleibl
00289845 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 151 Mohammed Faruq
00289846 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 224 Mohammed Faruq
00304203 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00304204 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00362793 - PubMed: Tsangaris 2011 - - - Canada - - - - - ? see paper; ... 1 1 Johan den Dunnen
00362794 - PubMed: Tsangaris 2011 - - - Canada - - - - - ? see paper; ... 1 1 Johan den Dunnen
00409498 ? PubMed: Lockhart 2018 - F - - - - - - - BCD 27y: night vision difficulties; more rapid vision loss during the course of two pregnancies; over the next 20 years, the vision in the right eye continued to decline to a current best corrected visual acuity right, left eye: of 20/200 (1.0 logMAR), 20/50 (0.4 logMAR); visual fields: progressive loss of sensitivity, greater in the pericentral region between 10 deg and 20 deg from fixation, with eventual development of scotomas that deepened and enlarged with time; full field electroretinography: initially normal in both eyes (27y), slowly declined over time, became statistically significant at 39y ; relatively symmetric progressive attenuation of rod-dependent and cone-dependent responses in both eyes; multifocal electroretinography: markedly attenuated central macular cone-dependent function, notably worse in the right eye; perimetry also showed asymmetric central and paracentral scotomas with the III4e and V4e isopters that were worse in the right, which deepened and enlarged especially over the past several years; III4e isopter area shows a progressively steep decline during ages 39-46. Retinal crystalline deposits visualised on colour photography and infrared imaging; corneal limbal crystalline deposits did not manifest clinically until 33y; wide-field fundus autofluorescence: confluent hypoautofluorescence of the posterior pole correlating with extensive retinal pigment epithelium atrophy in both eyes; 47y some intact macular autofluorescence remained, correlating with residual retinal pigment epithelium and better visual acuity in the left eye. Early phase wide-field fundus autofluorescence: confluent hyperfluorescent window defect of the posterior pole with patchy hypofluorescent choroidal atrophy; 44y, cystoid macular oedema (CME), worse in the right eye on optical coherence tomography 1 1 LOVD
00411617 ? PubMed: Greenberg 2003 South African family, proband M yes South Africa - - - - - retinal disease night blindness, sensitivity to bright light, visual field loss, loss of visual acuity 1 1 LOVD
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