Browsing by Author "b1e529c5-1e0f-453a-a07f-52b531a4b531"

Now showing items 1-3 of 3

    • A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from ... 
      Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes Gómez, Víctor; Flinter, Frances; Hertecant, Jozef; Holder Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M.; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J.; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A.; Banka, Siddharth (Nature, 2020)
      Purpose To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a ...
    • De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient ... 
      De Franco, Elisa; Caswell, Richard; Johnson, Matthew B.; Wakeling, Matthew N.; Zung, Amnon; Dũng, Vũ Chí; Bích Ngọc, Cấn Thị; Goonetilleke, Rajiv; Vivanco Jury, Maritza; El-Khateeb, Mohammed; Ellard, Sian; Flanagan, Sarah E.; Ron, David; Hattersley, Andrew T. (American Diabetes Association, 2020)
      Permanent neonatal diabetes mellitus (PNDM) is caused by reduced beta-cell number or impaired beta-cell function. Understanding of the genetic basis of this disorder highlights fundamental beta-cell mechanisms. We performed ...
    • Neurogenin 3 is important but not essential for pancreatic islet development in humans 
      Rubio Cabezas, Oscar; Codner Dujovne, Ethel; Flanagan, Sarah E.; Gómez, José L.; Ellard, Sian; Hattersley, Andrew T. (Springer Verlag, 2014)