المؤلفون: Boguszewski, César Luiz, Fighera, Tayane Muniz, Bornschein, Andressa, Marques, Fabricio Machado, Dénes, Judit, Rattenbery, Eleanor, Maher, Eamonn R., Stals, Karen, Ellard, Sian, Korbonits, Marta

المصدر: Arquivos Brasileiros de Endocrinologia & Metabologia. November 2012 56(8)

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000800008Test

المؤلفون: Della Manna, Thais, Battistim, Claudilene, Radonsky, Vanessa, Savoldelli, Roberta D., Damiani, Durval, Kok, Fernando, Pearson, Ewan R., Ellard, Sian, Hattersley, Andrew T., Reis, André F.

المصدر: Arquivos Brasileiros de Endocrinologia & Metabologia. November 2008 52(8)

مصطلحات موضوعية: Neonatal diabetes mellitus, KATP channels, KCNJ11, C166Y mutation, Glibenclamide, Treatment failure

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800024Test

المؤلفون: Adamo, Christin S, Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R, Tufa, Sara F, Mörgelin, Matthias, Brinckmann, Jürgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muiño-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P, Gangaram, Balram, Tam, Allison, Balasubramanian, Meena, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W, Hayflick, Susan J, Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C, Sakai, Lynn Y, Sengle, Gerhard, Callewaert, Bert

المصدر: American journal of human genetics. 109(12)

مصطلحات موضوعية: Animals, Humans, Mice, Bone Diseases, Metabolic, Cutis Laxa, Collagen, Elastin, Extracellular Matrix Proteins, EFEMP2, EMILIN1, LOX, aortic aneurysm, arterial tortuosity, collagen, cutis laxa, elastic fiber, extracellular matrix, fracture, Rare Diseases, Pediatric, Congenital Structural Anomalies, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8mv0r3gxTest

المؤلفون: Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Hussein, Rana Ibnouf, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Alllen, Zoe, Perez-Becerril, Christina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H., Taylor, Jenny C.

وصف الملف: text; slideshow; spreadsheet

العلاقة: https://eprints.soton.ac.uk/490818/1/AJHG_INVERSION_MANUSCRIPT_V13.docxTest; https://eprints.soton.ac.uk/490818/2/AJHG_INVERSION_MANUSCRIPT_SUPPLEMENTARY_v7.pdfTest; https://eprints.soton.ac.uk/490818/3/Figure_1_results_overview_V2.pptxTest; https://eprints.soton.ac.uk/490818/4/Figure_2_RNA_V2.pptxTest; https://eprints.soton.ac.uk/490818/5/Figure_3_MSH2_Founder_V4.pptxTest; https://eprints.soton.ac.uk/490818/6/Figure_4_MECP2_ambiguous_V8.pptxTest; https://eprints.soton.ac.uk/490818/7/Figure_5_HOXD_odyssey_V3.pptxTest; https://eprints.soton.ac.uk/490818/8/Figure_6_APC_conundrumV5.pptxTest; https://eprints.soton.ac.uk/490818/9/Graphical_abstract_fifth_revision.pdfTest; https://eprints.soton.ac.uk/490818/10/TableS1_HI3genes_ClinGen.xlsxTest; https://eprints.soton.ac.uk/490818/11/TableS2_inversions_grouped_revision5.xlsxTest; Pagnamenta, Alistair T., Yu, Jing, Walker, Susan, Noble, Alexandra J., Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Hussein, Rana Ibnouf, Lindsay, Sarah J., Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Alllen, Zoe, Perez-Becerril, Christina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D. Gareth, Burghel, George J., Smith, Miriam J., Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T., Cook, Jackie A., Durkie, Miranda, East, James E., Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H. and Taylor, Jenny C. (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6), 1140-1164. (doi:10.1016/j.ajhg.2024.04.018 ).

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.04.018Test
https://eprints.soton.ac.uk/490818Test/
https://eprints.soton.ac.uk/490818/1/AJHG_INVERSION_MANUSCRIPT_V13.docxTest
https://eprints.soton.ac.uk/490818/2/AJHG_INVERSION_MANUSCRIPT_SUPPLEMENTARY_v7.pdfTest
https://eprints.soton.ac.uk/490818/3/Figure_1_results_overview_V2.pptxTest
https://eprints.soton.ac.uk/490818/4/Figure_2_RNA_V2.pptxTest
https://eprints.soton.ac.uk/490818/5/Figure_3_MSH2_Founder_V4.pptxTest
https://eprints.soton.ac.uk/490818/6/Figure_4_MECP2_ambiguous_V8.pptxTest
https://eprints.soton.ac.uk/490818/7/Figure_5_HOXD_odyssey_V3.pptxTest
https://eprints.soton.ac.uk/490818/8/Figure_6_APC_conundrumV5.pptxTest

المؤلفون: Pancreatic Agenesis Gene Discovery, De Franco, Elisa, Owens, Nick D. L., Montaser, Hossam, Wakeling, Matthew N., Saarimäki-Vire, Jonna, Triantou, Athina, Ibrahim, Hazem, Balboa, Diego, Caswell, Richard C., Jennings, Rachel E., Kvist, Jouni A., Johnson, Matthew B., Muralidharan, Sachin, Ellard, Sian, Wright, Caroline F., Maddirevula, Sateesh, Alkuraya, Fowzan S., Hanley, Neil A., Flanagan, Sarah E., Otonkoski, Timo, Hattersley, Andrew T., Imbeault, Michael

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Centre of Excellence in Stem Cell Metabolism, Helsinki One Health (HOH), HUS Children and Adolescents, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Children's Hospital

مصطلحات موضوعية: Zinc-finger proteins, Visceral endoderm, Gene, Onset, Gata4, Methyltransferase, Differentiation, Mutations, Enhancer, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: We are grateful to the patients and their families for taking part in our gene discovery study. We also thank S. Eurola, J. Ustinov and R. Ward for expert technical assistance. This work was supported by a Wellcome Trust Collaborative Award in Science to E.D.F., N.D.L.O., T.O., A.T.H. and M.I. (grant no. 224600/Z/21/Z). E.D.F. is a Diabetes UK RD Lawrence Fellow (19/005971) and has been the recipient of an EFSD Rising Star fellowship during this study. A.T.H. and S.E. were the recipients of a Wellcome Trust Senior Investigator award (grant no. WT098395/Z/12/Z) during this study and A.T.H. is employed as a core member of staff in the NIH Research-funded Exeter Clinical Research Facility and is an NIHR Emeritus Senior Investigator. M.I. has a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (grant no. 206688/Z/17/Z). S.E.F. has a Wellcome Trust Senior Research Fellowship (grant no. 105636/Z/14/Z). N.D.L.O. has a lectureship funded by a Research England's Expanding Excellence in England (E3) award. M.B.J. and M.N.W. are recipients of an Exeter Diabetes Centre of Excellence Independent Fellowship funded by E3. The work was supported by the National Institute for Health Research (NIHR) Exeter Biomedical Research Centre, Exeter, UK. R.E.J. is a Diabetes UK Harry Keen Clinician Scientist fellow (20/0006263) and received an Academy of Sciences Starter grant during this project. N.A.H. is funded by the Medical Research Council (grant nos. MR/000638/1 and MR/S036121/1). Most of the experimental studies were funded by the Academy of Finland Center of Excellence MetaStem (grant no. 312437), the Novo Nordisk Foundation (grant no. 0057286) and the Sigrid Juselius Foundation. H.M. is a member of the Doctoral Program in Integrative Life Science at University of Helsinki. A.T.'s doctoral studies were funded by the Foundation for Education and European Culture (IPEP) in Greece and by the Cambridge Trust. D.B. received funding from a European Molecular Biology Organization long-term fellowship (ALTF 295-2019). King Salman Center for Disability Research funded exome sequencing analysis for one case through Research Group no. RG-2022-010. For the purpose of open access, the author has applied a CC BY public copyright licence to any author accepted manuscript version arising from this submission.; Pancreatic Agenesis Gene Discovery , De Franco , E , Owens , N D L , Montaser , H , Wakeling , M N , Saarimäki-Vire , J , Triantou , A , Ibrahim , H , Balboa , D , Caswell , R C , Jennings , R E , Kvist , J A , Johnson , M B , Muralidharan , S , Ellard , S , Wright , C F , Maddirevula , S , Alkuraya , F S , Hanley , N A , Flanagan , S E , Otonkoski , T , Hattersley , A T & Imbeault , M 2023 , ' Primate-specific ZNF808 is essential for pancreatic development in humans ' , Nature Genetics , vol. 55 , pp. 2075–2081 . https://doi.org/10.1038/s41588-023-01565-xTest; ORCID: /0000-0003-0879-1807/work/150743709; 71071293-9ffa-4336-8e57-e2f95b6fb875; http://hdl.handle.net/10138/569488Test; 001102934600001

الإتاحة: http://hdl.handle.net/10138/569488Test

المؤلفون: Carlsson, Annelie, Shepherd, Maggie, Ellard, Sian, Weedon, Michael, Lernmark, Ake, Forsander, Gun, Colclough, Kevin, Brahimi, Qefsere, Valtonen-Andre, Camilla, Ivarsson, Sten A., Elding Larsson, Helena, Samuelsson, Ulf, 1951, Ortqvist, Eva, Groop, Leif, Ludvigsson, Johnny, 1943, Marcus, Claude, Hattersley, Andrew T.

المصدر: Diabetes Care. 43(1):82-89

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-163462Test
https://doi.org/10.2337/dc19-0747Test

المؤلفون: Franco, Elisa De, Owens, Nick, Montaser, Hossam, Wakeling, Matthew, Saarimäki-Vire, Jonna, Triantou, Athina, Ibrahim, Hazem Gamal, Balboa, Diego, Caswell, Richard, Jennings, Rachel E., Kvist, Jouni, Johnson, Matthew B., Muralidharan, Sachin, Ellard, Sian, Wright, Caroline F, Maddirevula, Sateesh, Alkuraya, Fowzan S, Laimon, Wafaa, Hassan, Samar S., Abdullah, Mohamed A., Fritzberg, Anders, Wakeling, Emma, Nathwani, Nisha, Elbarbary, Nancy, Osman, Amani, Alkandari, Hessa, alTararwa, Abeer, Habeb, Abdelhadi, Al-Agha, Abdulmoein Eid, Ahmad, Ihab Abdulhamed, Aldulaimi, Majida Noori Nasaif, Ustyol, Ala, Binomar, Hiba Mohammed Amin, Shagrani, Mohammad, Hanley, Neil, Flanagan, Sarah, Otonkoski, Timo, Hattersley, Andrew, Imbeault, Michael

المصدر: Franco , E D , Owens , N , Montaser , H , Wakeling , M , Saarimäki-Vire , J , Triantou , A , Ibrahim , H G , Balboa , D , Caswell , R , Jennings , R E , Kvist , J , Johnson , M B , Muralidharan , S , Ellard , S , Wright , C F , Maddirevula , S , Alkuraya , F S , Laimon , W , Hassan , S S , Abdullah , M A , Fritzberg , A , Wakeling , E , Nathwani , N ....

العلاقة: https://research.manchester.ac.uk/en/publications/fc355949-5dac-41c8-9249-b27c9a316fc8Test

الإتاحة: https://doi.org/10.1038/s41588-023-01565-xTest
https://research.manchester.ac.uk/en/publications/fc355949-5dac-41c8-9249-b27c9a316fc8Test

المؤلفون: Happ, Hannah, C, Sadleir, Lynette, G, Zemel, Matthew, de Valles-Ibáñez, Guillem, Hildebrand, Michael, S, Mcconkie-Rosell, Allyn, Mcdonald, Marie, May, Halie, Sands, Tristan, Aggarwal, Vimla, Elder, Christopher, Feyma, Timothy, Bayat, Allan, Møller, Rikke, S, Fenger, Christina, D, Klint Nielsen, Jens Erik, Datta, Anita, N, Gorman, Kathleen, M, King, Mary, D, Linhares, Natalia, D, Burton, Barbara, K, Paras, Andrea, Ellard, Sian, Rankin, Julia, Shukla, Anju, Majethia, Purvi, Olson, Rory, J, Muthusamy, Karthik, Schimmenti, Lisa, A, Starnes, Keith, Sedláčková, Lucie, Štěrbová, Katalin, Vlčková, Markéta, Laššuthová, Petra, Jahodová, Alena, Porter, Brenda, E, Couque, Nathalie, Colin, Estelle, Prouteau, Clément, Collet, Corinne, Smol, Thomas, Caumes, Roseline, Vansenne, Fleur, Bisulli, Francesca, Licchetta, Laura, Person, Richard, Torti, Erin, Mcwalter, Kirsty, Webster, Richard, Gerard, Elizabeth, E, Lesca, Gaetan, Szepetowski, Pierre, Scheffer, Ingrid, E, Mefford, Heather, C, Carvill, Gemma, L

المساهمون: University of Otago Dunedin, Nouvelle-Zélande, University of Washington Seattle, Epilepsy Research Centre, University of Melbourne, Duke University Medical Center, Institute for Genomic Medicine New York, NY, USA, Columbia University New York, Columbia University Irving Medical Center (CUIMC), University of Southern Denmark (SDU), Zealand University Hospital Roskilde, Denmark, University of British Columbia Vancouver, University College Dublin Dublin (UCD), Kasturba Medical College, Manipal, Center for Individualized Medicine, Stanford University School of Medicine CA, USA, Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Institut de Génétique Médicale CHRU Lille, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université de Lille-Université de Lille, Alma Mater Studiorum Università di Bologna = University of Bologna (UNIBO), GeneDx Gaithersburg, MD, USA, Institut de Neurobiologie de la Méditerranée Aix-Marseille Université (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

العلاقة: hal-04133606; https://amu.hal.science/hal-04133606Test; https://amu.hal.science/hal-04133606/documentTest; https://amu.hal.science/hal-04133606/file/WNL-2022-201354.pdfTest

الإتاحة: https://doi.org/10.1212/WNL.0000000000201492Test
https://amu.hal.science/hal-04133606Test
https://amu.hal.science/hal-04133606/documentTest
https://amu.hal.science/hal-04133606/file/WNL-2022-201354.pdfTest

المؤلفون: Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K, Dabir, Tabib, Morrison, Patrick J, Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw-Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E, Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E, Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman-Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander JM, Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D, Genomics England Research Consortium, Becker, Esther BE, Németh, Andrea H

المصدر: Movement Disorders (2023) (In press).

مصطلحات موضوعية: Gillespie syndrome, IP3R1, ITPR1, cerebellum, next-generation sequencing, spinocerebellar ataxia type 29

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181855Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181855Test/

المؤلفون: Ververi, Athina, Zagaglia, Sara, Menzies, Lara, Baptista, Julia, Caswell, Richard, Baulac, Stephanie, Ellard, Sian, Lynch, Sally, Jacques, Thomas, S, Chawla, Maninder Singh, Heier, Martin, Kulseth, Mari Ann, Mero, Inger-Lise, Våtevik, Anne Katrine, Kraoua, Ichraf, Ben Rhouma, Hanene, Ben Younes, Thouraya, Miladi, Zouhour, Ben Youssef Turki, Ilhem, Jones, Wendy, D, Clement, Emma, Eltze, Christin, Mankad, Kshitij, Merve, Ashirwad, Parker, Jennifer, Hoskins, Bethan, Pressler, Ronit, Sudhakar, Sniya, Devile, Catherine, Homfray, Tessa, Kaliakatsos, Marios, Robinson, Robert, Keim, Sara Margrete Bøen, Habibi, Imen, Reymond, Alexandre, Sisodiya, Sanjay, M, Hurst, Jane, A

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0964-6906.

مصطلحات موضوعية: Partial / genetics, Epileptic Syndromes, GTPase-Activating Proteins / genetics, Humans, Megalencephaly / genetics, Mutation, Polymicrogyria, TOR Serine-Threonine Kinases / genetics, Epilepsies, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36067010; hal-04405885; https://hal.science/hal-04405885Test; https://hal.science/hal-04405885/documentTest; https://hal.science/hal-04405885/file/ddac225.pdfTest; PUBMED: 36067010; PUBMEDCENTRAL: PMC9896472

الإتاحة: https://doi.org/10.1093/hmg/ddac225Test
https://hal.science/hal-04405885Test
https://hal.science/hal-04405885/documentTest
https://hal.science/hal-04405885/file/ddac225.pdfTest