PMC Links for Nucleotide (Select 1519316103) - PMC

Select item 45649901.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

Am J Hum Genet. 2015 Sep 3; 97(3): 483–492. Published online 2015 Aug 27. doi: 10.1016/j.ajhg.2015.08.001

PMCID:: PMC4564990

Abstract Article PDF–2.1M

Select item 13777692.

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

M Seri, R Cusano, P Forabosco, R Cinti, F Caroli, P Picco, R Bini, V B Morra, G De Michele, M Lerone, M Silengo, I Pela, C Borrone, G Romeo, M Devoto

Am J Hum Genet. 1999 Feb; 64(2): 586–593. doi: 10.1086/302241

PMCID:: PMC1377769

Summary PDF–241K

Select item 69072333.

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli

Orphanet J Rare Dis. 2019; 14: 288. Published online 2019 Dec 11. doi: 10.1186/s13023-019-1189-z