Showing items related by title, author, creator and subject.

• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 

  Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A.; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G.; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A.; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J.; Monteleone, Berrin; Saunders, Carol J.; Jean Cuevas, July K.; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L.; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E.; Macke, Erica L.; Morava, Eva; Klee, Eric W.; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J.; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D.; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M. R.; Carter, Melissa T.; Kalsner, Louisa; de Vries, Bert B. A.; van Bon, Bregje W.; Wevers, Marijke R.; Pfundt, Rolph; Stegmann, Alexander P. A.; Kerr, Bronwyn; Kingston, Helen M.; Chandler, Kate E.; Sheehan, Willow; Elias, Abdallah F.; Shinde, Deepali N.; Towne, Meghan C.; Robin, Nathaniel H.; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R. Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E. M.; Brooks, Alice S.; Gribnau, Joost; Boers, Ruben G.; Finestra, Teresa Robert; Carter, Lauren B.; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M.; Barakat, Tahsin Stefan; Graham, John M. Jr; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E.; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E. L. M.; Sadikovic, Bekim; Scott, Daryl A.; Holder, Jimmy Lloyd Jr; Tartaglia, Marco (Cell Press, 2021-03-04)

  Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, ...

• Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia 

  McGlacken-Byrne, S. M.; Mohammad, J. K.; Conlon, N.; Gubaeva, D.; Siersbæk, J.; Schou, A. J.; Demirbilek, H.; Dastamani, A.; Houghton, J. A. L.; Brusgaard, K.; Melikyan, M.; Christesen, H.; Flanagan, S. E.; Murphy, N. P.; Shah, P. (BioScientifica, 2022-02-22)

  OBJECTIVE: The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). DESIGN: We characterised an ...

• Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy 

  Bryen, S. J.; Ewans, L. J.; Pinner, J.; MacLennan, S. C.; Donkervoort, S.; Castro, D.; Töpf, A.; O'Grady, G.; Cummings, B.; Chao, K. R.; Weisburd, B.; Francioli, L.; Faiz, F.; Bournazos, A. M.; Hu, Y.; Grosmann, C.; Malicki, D. M.; Doyle, H.; Witting, N.; Vissing, J.; Claeys, K. G.; Urankar, K.; Beleza-Meireles, A.; Baptista, J.; Ellard, S.; Savarese, M.; Johari, M.; Vihola, A.; Udd, B.; Majumdar, A.; Straub, V.; Bönnemann, C. G.; MacArthur, D. G.; Davis, M. R.; Cooper, S. T. (Wiley, 2020-02-01)

  We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. ...