Search Results - "HURST, Jane A"

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis by Wilkie, Andrew O M, Byren, Jo C, Hurst, Jane A, Jayamohan, Jayaratnam, Johnson, David, Knight, Samantha J L, Lester, Tracy, Richards, Peter G, Twigg, Stephen R F, Wall, Steven A

“…We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and…”
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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control by Tessadori, Federico, Giltay, Jacques C, Hurst, Jane A, Massink, Maarten P, Duran, Karen, Vos, Harmjan R, van Es, Robert M, Scott, Richard H, van Gassen, Koen L I, Bakkers, Jeroen, van Haaften, Gijs

“…Missense mutations affecting lysine 91 in the histone H4 core cause a developmental syndrome marked by growth delay, microcephaly and intellectual disability…”
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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome by Eichler, Evan E, Sharp, Andrew J, Hansen, Sierra, Selzer, Rebecca R, Cheng, Ze, Regan, Regina, Hurst, Jane A, Stewart, Helen, Price, Sue M, Blair, Edward, Hennekam, Raoul C, Fitzpatrick, Carrie A, Segraves, Rick, Richmond, Todd A, Guiver, Cheryl, Albertson, Donna G, Pinkel, Daniel, Eis, Peggy S, Schwartz, Stuart, Knight, Samantha J L

“…Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the…”
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A forkhead-domain gene is mutated in a severe speech and language disorder by Monaco, Anthony P, Lai, Cecilia S. L, Fisher, Simon E, Hurst, Jane A, Vargha-Khadem, Faraneh

“…Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the…”
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A new acro-osteolysis syndrome caused by duplications including PTHLH by Gray, Mary J, van Kogelenberg, Margriet, Beddow, Rachel, Morgan, Tim, Wordsworth, Paul, Shears, Deborah J, Robertson, Stephen P, Hurst, Jane A

“…Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple…”
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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis by Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H

“…We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental…”
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The phenotype of Floating-Harbor syndrome in 10 patients by White, Susan M., Morgan, Angela, Da Costa, Annette, Lacombe, Didier, Knight, Samantha J.L., Houlston, Richard, Whiteford, Margo L., Newbury-Ecob, Ruth A., Hurst, Jane A.

“…Floating–Harbor syndrome (FHS) is a rare condition typified by short stature, speech impairment, delayed bone age, and characteristic facies. The diagnosis can…”
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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification by Wilkie, Andrew O.M, Tang, Zequn, Elanko, Navaratnam, Walsh, Sinead, Twigg, Stephen R.F, Hurst, Jane A, Wall, Steven A, Chrzanowska, Krystyna H, Maxson, Robert E

“…The genetic analysis of congenital skull malformations provides insight into normal mechanisms of calvarial osteogenesis. Enlarged parietal foramina (PFM) are…”
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Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure by Bendon, Charlotte L, Fenwick, Aimée L, Hurst, Jane A, Nürnberg, Gudrun, Nürnberg, Peter, Wall, Steven A, Wilkie, Andrew O M, Johnson, David

“…Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The…”
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Syndromic Forms of Hyperinsulinaemic Hypoglycaemia—A 15‐year follow‐up Study by Kostopoulou, Eirini, Dastamani, Antonia, Güemes, Maria, Clement, Emma, Caiulo, Silvana, Shanmugananda, Prateek, Dattani, Mehul, Gilbert, Clare, Hurst, Jane A, Shah, Pratik

“…Objective Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in children. The molecular basis includes defects in pathways…”
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia by Meyer, Esther, Carss, Keren J, Rankin, Julia, Nichols, John M E, Grozeva, Detelina, Joseph, Agnel P, Mencacci, Niccolo E, Papandreou, Apostolos, Ng, Joanne, Barral, Serena, Ngoh, Adeline, Ben-Pazi, Hilla, Willemsen, Michel A, Arkadir, David, Barnicoat, Angela, Bergman, Hagai, Bhate, Sanjay, Boys, Amber, Darin, Niklas, Foulds, Nicola, Gutowski, Nicholas, Hills, Alison, Houlden, Henry, Hurst, Jane A, Israel, Zvi, Kaminska, Margaret, Limousin, Patricia, Lumsden, Daniel, McKee, Shane, Misra, Shibalik, Mohammed, Shekeeb S, Nakou, Vasiliki, Nicolai, Joost, Nilsson, Magnus, Pall, Hardev, Peall, Kathryn J, Peters, Gregory B, Prabhakar, Prab, Reuter, Miriam S, Rump, Patrick, Segel, Reeval, Sinnema, Margje, Smith, Martin, Turnpenny, Peter, White, Susan M, Wieczorek, Dagmar, Wiethoff, Sarah, Wilson, Brian T, Winter, Gidon, Wragg, Christopher, Pope, Simon, Heales, Simon J H, Morrogh, Deborah, Pittman, Alan, Carr, Lucinda J, Perez-Dueñas, Belen, Lin, Jean-Pierre, Reis, Andre, Gahl, William A, Toro, Camilo, Bhatia, Kailash P, Wood, Nicholas W, Kamsteeg, Erik-Jan, Chong, Wui K, Gissen, Paul, Topf, Maya, Dale, Russell C, Chubb, Jonathan R, Raymond, F Lucy, Kurian, Manju A

“…Manju Kurian and colleagues report heterozygous variants in KMT2B in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often…”
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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency by Cottineau, Julien, Kottemann, Molly C, Lach, Francis P, Kang, Young-Hoon, Vély, Frédéric, Deenick, Elissa K, Lazarov, Tomi, Gineau, Laure, Wang, Yi, Farina, Andrea, Chansel, Marie, Lorenzo, Lazaro, Piperoglou, Christelle, Ma, Cindy S, Nitschke, Patrick, Belkadi, Aziz, Itan, Yuval, Boisson, Bertrand, Jabot-Hanin, Fabienne, Picard, Capucine, Bustamante, Jacinta, Eidenschenk, Céline, Boucherit, Soraya, Aladjidi, Nathalie, Lacombe, Didier, Barat, Pascal, Qasim, Waseem, Hurst, Jane A, Pollard, Andrew J, Uhlig, Holm H, Fieschi, Claire, Michon, Jean, Bermudez, Vladimir P, Abel, Laurent, de Villartay, Jean-Pierre, Geissmann, Frédéric, Tangye, Stuart G, Hurwitz, Jerard, Vivier, Eric, Casanova, Jean-Laurent, Smogorzewska, Agata, Jouanguy, Emmanuelle

“…Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine…”
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Diagnostic value of exome and whole genome sequencing in craniosynostosis by Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M

“…Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in…”
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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription by Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.

“…Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an…”
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Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management by Menzies, Lara, D'Arco, Felice, Ganesan, Vijeya, Hurst, Jane A.

“…Floating-Harbor syndrome (FHS) is a rare, heritable disorder caused by variants in the SRCAP gene. Most individuals with FHS have characteristic facial…”
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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism by Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Sahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton-Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R

“…Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent…”
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Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome by Welters, Alena, El-Khairi, Ranna, Dastamani, Antonia, Bachmann, Nadine, Bergmann, Carsten, Gilbert, Clare, Clement, Emma, Hurst, Jane A, Quercia, Nada, Wasserman, Jonathan D, Meissner, Thomas, Shah, Pratik, Kummer, Sebastian

“…Objective Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated…”
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Delineation of the movement disorders associated with FOXG1 mutations by Papandreou, Apostolos, Schneider, Ruth B, Augustine, Erika F, Ng, Joanne, Mankad, Kshitij, Meyer, Esther, McTague, Amy, Ngoh, Adeline, Hemingway, Cheryl, Robinson, Robert, Varadkar, Sophia M, Kinali, Maria, Salpietro, Vincenzo, OʼDriscoll, Margaret C, Basheer, S Nigel, Webster, Richard I, Mohammad, Shekeeb S, Pula, Shpresa, McGowan, Marian, Trump, Natalie, Jenkins, Lucy, Elmslie, Frances, Scott, Richard H, Hurst, Jane A, Perez-Duenas, Belen, Paciorkowski, Alexander R, Kurian, Manju A

“…OBJECTIVE:The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations. METHODS:We identified patients…”
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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome by Alharatani, Reham, Ververi, Athina, Beleza-Meireles, Ana, Ji, Weizhen, Mis, Emily, Patterson, Quinten T, Griffin, John N, Bhujel, Nabina, Chang, Caitlin A, Dixit, Abhijit, Konstantino, Monica, Healy, Christopher, Hannan, Sumayyah, Neo, Natsuko, Cash, Alex, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine H, Cleaver, Ruth, Baralle, Diana, McEntagart, Meriel, Newbury-Ecob, Ruth, Scott, Richard, Hurst, Jane A, Au, Ping Yee Billie, Hosey, Marie Therese, Khokha, Mustafa, Marciano, Denise K, Lakhani, Saquib A, Liu, Karen J

“…CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the…”
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ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism by Panza, Emanuele, Escamilla-Honrubia, Juan M, Marco-Marín, Clara, Gougeard, Nadine, De Michele, Giuseppe, Morra, Vincenzo Brescia, Liguori, Rocco, Salviati, Leonardo, Donati, Maria Alice, Cusano, Roberto, Pippucci, Tommaso, Ravazzolo, Roberto, Németh, Andrea H, Smithson, Sarah, Davies, Sally, Hurst, Jane A, Bordo, Domenico, Rubio, Vicente, Seri, Marco

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