Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2dd7ba33a4dc1d7884e0f4606f7c73dd
https://doi.org/10.1002/ajmg.a.63006

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/ instability syndromes.

Autor: Thiffault, Isabelle^1,2 (AUTHOR) ithiffault@cmh.edu, Saunders, Carol^1,2,3 (AUTHOR), Jenkins, Janda^3,4,5 (AUTHOR), Raje, Nikita⁶ (AUTHOR), Canty, Kristi⁷ (AUTHOR), Sharma, Mukta⁸ (AUTHOR), Grote, Lauren^3,4,5 (AUTHOR), Welsh, Holly I^3,4,5 (AUTHOR), Farrow, Emily¹ (AUTHOR), Twist, Greyson¹ (AUTHOR), Miller, Neil¹ (AUTHOR), Zwick, David² (AUTHOR), Zellmer, Lee¹ (AUTHOR), Kingsmore, Stephen F^1,2,3,5 (AUTHOR), Safina, Nicole P^3,4,5 (AUTHOR)

Publikováno v: BMC Medical Genetics. 2015, Vol. 16 Issue 1, p31-38. 8p. 1 Color Photograph, 1 Chart, 1 Graph.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Autor: Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W

Publikováno v: Human Molecular Genetics; 1/15/2019, Vol. 28 Issue 2, p258-268, 11p