Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

Por Gabbay, Monica, Ellard, Sian, De Franco, Elisa, Moisés, Regina S.
Publicado no J Clin Res Pediatr Endocrinol (2017)

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

Por Antosik, Karolina, Gnys, Piotr, De Franco, Elisa, Borowiec, Maciej, Mysliwiec, Malgorzata, Ellard, Sian, Mlynarski, Wojciech
Publicado no Acta Diabetol (2015)

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

Por Yau, Daphne, De Franco, Elisa, Flanagan, Sarah E., Ellard, Sian, Blumenkrantz, Miriam, Mitchell, John J.
Publicado no Diagn Pathol (2017)

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

Por De Franco, Elisa, Shaw-Smith, Charles, Flanagan, Sarah E., Shepherd, Maggie H., Hattersley, Andrew T., Ellard, Sian
Publicado em 2013

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Por Allen, Hana Lango, Flanagan, Sarah E, Shaw-Smith, Charles, De Franco, Elisa, Akerman, Ildem, Caswell, Richard, Ferrer, Jorge, Hattersley, Andrew T, Ellard, Sian
Publicado em 2011

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

Por De Franco, Elisa, Flanagan, Sarah E, Houghton, Jayne AL, Allen, Hana Lango, Mackay, Deborah JG, Temple, I Karen, Ellard, Sian, Hattersley, Andrew T
Publicado no Lancet (2015)

The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype

Por Reinauer, Christina, Rosenbauer, Joachim, Bächle, Christina, Herder, Christian, Roden, Michael, Ellard, Sian, De Franco, Elisa, Karges, Beate, Holl, Reinhard W., Enczmann, Jürgen, Meissner, Thomas
Publicado no Genes (Basel) (2017)

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

Por Flanagan, Sarah E., Dũng, Vũ Chí, Houghton, Jayne A. L., De Franco, Elisa, Ngoc, Can Thi Bich, Damhuis, Annet, Ashcroft, Frances M., Harries, Lorna W., Ellard, Sian
Publicado no J Clin Res Pediatr Endocrinol (2017)

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

Por Houghton, Jayne A.L., Swift, Galvin H., Shaw-Smith, Charles, Flanagan, Sarah E., de Franco, Elisa, Caswell, Richard, Hussain, Khalid, Mohamed, Sarar, Abdulrasoul, Majedah, Hattersley, Andrew T., MacDonald, Raymond J., Ellard, Sian
Publicado no Diabetes (2016)

Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Por De Franco, Elisa, Flanagan, Sarah E., Yagi, Takuya, Abreu, Damien, Mahadevan, Jana, Johnson, Matthew B., Jones, Garan, Acosta, Fernanda, Mulaudzi, Mphele, Lek, Ngee, Oh, Vera, Petz, Oliver, Caswell, Richard, Ellard, Sian, Urano, Fumihiko, Hattersley, Andrew T.
Publicado no Diabetes (2017)

Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes

Por Johnson, Matthew B, De Franco, Elisa, Lango-Allen, Hana, Al Senani, Aisha, Elbarbary, Nancy, Siklar, Zeynep, Berberoglu, Merih, Imane, Zineb, Haghighi, Alireza, Ullah, Irfan, Alyaarubi, Saif, Gardner, Daphne, Ellard, Sian, Hattersley, Andrew T, Flanagan, Sarah E
Publicado no Diabetes (2017)

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

Por Flanagan, Sarah E., De Franco, Elisa, Lango Allen, Hana, Zerah, Michele, Abdul-Rasoul, Majedah M., Edge, Julie A., Stewart, Helen, Alamiri, Elham, Hussain, Khalid, Wallis, Sam, de Vries, Liat, Rubio-Cabezas, Oscar, Houghton, Jayne A.L., Edghill, Emma L., Patch, Ann-Marie, Ellard, Sian, Hattersley, Andrew T.
Publicado em 2014

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Por Weedon, Michael N., Cebola, Ines, Patch, Ann-Marie, Flanagan, Sarah E., De Franco, Elisa, Caswell, Richard, Rodríguez-Seguí, Santiago A., Shaw-Smith, Charles, Cho, Candy H-H., Allen, Hana Lango, Houghton, Jayne AL., Roth, Christian L., Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T.
Publicado em 2013

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Por Flanagan, Sarah E., Haapaniemi, Emma, Russell, Mark A., Caswell, Richard, Allen, Hana Lango, De Franco, Elisa, McDonald, Timothy J., Rajala, Hanna, Ramelius, Anita, Barton, John, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Kajosaari, Merja, Murphy, Nuala P., Milenkovic, Tatjana, Seppänen, Mikko, Lernmark, Åke, Mustjoki, Satu, Otonkoski, Timo, Kere, Juha, Morgan, Noel G., Ellard, Sian, Hattersley, Andrew T.
Publicado em 2014

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Por Raimondo, Anne, Chakera, Ali J., Thomsen, Soren K., Colclough, Kevin, Barrett, Amy, De Franco, Elisa, Chatelas, Alisson, Demirbilek, Huseyin, Akcay, Teoman, Alawneh, Hussein, Flanagan, Sarah E., Van De Bunt, Martijn, Hattersley, Andrew T., Gloyn, Anna L., Ellard, Sian, Abduljabbar, Mohammad A., Al-Zyoud, Mahmoud, Aman, Syed, Bath, Louise, De, Parijat, Deshpande, Neeta, Durmaz, Erdem, Eickmeier, Frank, Elbarbary, Nancy Samir, Fillion, Marc, Jagadeesh, Sujatha M., Kershaw, Melanie, Khan, Waqas I., Mlynarski, Wojciech, Noyes, Kathryn, Peters, Catherine J., Shaw, Nick, Tiron, Irina, Turkkahraman, Doga, Turner, Lesley, Eltonbary, Khadiga Y., Yuksel, Bilgin
Publicado no Hum Mol Genet (2014)