PMC Links for Nucleotide (Select 1519243247) - PMC

Select item 63385981.

Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency

Xiang Yang, Philippe Touraine, Swapna Desai, Gregory Humphreys, Huaiyang Jiang, Alexander Yatsenko, Aleksandar Rajkovic

J Assist Reprod Genet. 2019 Jan; 36(1): 39–45. Published online 2018 Nov 7. doi: 10.1007/s10815-018-1349-4

PMCID:: PMC6338598

Select item 61212452.

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

Valentina Citro, Chiara Cimmaruta, Maria Monticelli, Guglielmo Riccio, Bruno Hay Mele, Maria Vittoria Cubellis, Giuseppina Andreotti

Int J Mol Sci. 2018 Aug; 19(8): 2218. Published online 2018 Jul 30. doi: 10.3390/ijms19082218

PMCID:: PMC6121245

Abstract Article PDF–1.0M

Select item 58558413.

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano

Int J Mol Sci. 2018 Feb; 19(2): 619. Published online 2018 Feb 22. doi: 10.3390/ijms19020619

PMCID:: PMC5855841

Abstract Article PDF–2.5M

Select item 57405574.

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem

J Med Genet. 2017 Dec; 54(12): 795–804. Published online 2017 Aug 5. doi: 10.1136/jmedgenet-2017-104811

PMCID:: PMC5740557

Abstract Article PDF–810K

Select item 49198495.

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

S. Sabry, S. Vuillaumier-Barrot, E. Mintet, M. Fasseu, V. Valayannopoulos, D. Héron, N. Dorison, C. Mignot, N. Seta, I. Chantret, T. Dupré, S. E. H. Moore

Orphanet J Rare Dis. 2016; 11: 84. Published online 2016 Jun 24. doi: 10.1186/s13023-016-0468-1

PMCID:: PMC4919849

Abstract Article PDF–1.9M

Select item 34341176.

A framework to identify gene expression profiles in a model of inflammation induced by lipopolysaccharide after treatment with thalidomide

Renata T Paiva, Alessandra M Saliba, Tatiana O Fulco, Jorgenilce de Souza Sales, Daniel Serra de Carvalho, Elizabeth P Sampaio, Ulisses G Lopes, Euzenir N Sarno, Flavio F Nobre

BMC Res Notes. 2012; 5: 292. Published online 2012 Jun 13. doi: 10.1186/1756-0500-5-292

PMCID:: PMC3434117

Abstract Article PDF–715K

Select item 33153697.

Metabolism and Regulation of Gene Expression by 4-Oxoretinol versus All-trans Retinoic Acid in Normal Human Mammary Epithelial Cells

Limin Liu, Fadila Derguini, Lorraine J. Gudas

J Cell Physiol. Author manuscript; available in PMC 2012 Mar 29.

Published in final edited form as: J Cell Physiol. 2009 Sep; 220(3): 771–779. doi: 10.1002/jcp.21824

PMCID:: PMC3315369

Abstract Article PDF–2.0M

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