Search Results - "METCALFE, Kay"

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia by Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, van Lenthe, Henk, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, van Kampen, Antoine H C, Ruiter, Jos P N, Wanders, Ronald J A, Ferdinandusse, Sacha, van Weeghel, Michel, Engelen, Marc, Banka, Siddharth

“…CTP:phosphoethanolamine cytidylyltransferase (ET), encoded by PCYT2, is the rate-limiting enzyme for phosphatidylethanolamine synthesis via the…”
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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy by Fry, Andrew E., Marra, Christopher, Derrick, Anna V., Pickrell, William O., Higgins, Adam T., te Water Naude, Johann, McClatchey, Martin A., Davies, Sally J., Metcalfe, Kay A., Tan, Hui Jeen, Mohanraj, Rajiv, Avula, Shivaram, Williams, Denise, Brady, Lauren I., Mesterman, Ronit, Tarnopolsky, Mark A., Zhang, Yuehua, Yang, Ying, Wang, Xiaodong, Rees, Mark I., Goldfarb, Mitchell, Chung, Seo-Kyung

“…Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Nav) channels in the brain and other…”
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The clinical presentation caused by truncating CHD8 variants by Douzgou, Sofia, Liang, Hui Wen, Metcalfe, Kay, Somarathi, Suresh, Tischkowitz, Marc, Mohamed, Wafik, Kini, Usha, McKee, Shane, Yates, Laura, Bertoli, Marta, Lynch, Sally Ann, Holder, Susan, Banka, Siddharth

“…Variants in the chromodomain helicase DNA‐binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASDs) and…”
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DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability by Schirwani, Schaida, Metcalfe, Kay, Wagner, Bart, Berry, Ian, Sobey, Glenda, Jewell, Rosalyn

“…Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive condition characterized by distinct craniofacial features, multisystem congenital…”
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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases by Symonds, Joseph D., Joss, Shelagh, Metcalfe, Kay A., Somarathi, Suresh, Cruden, Jamie, Devlin, Anita M., Donaldson, Alan, DiDonato, Nataliya, Fitzpatrick, David, Kaiser, Frank J., Lampe, Anne K., Lees, Melissa M., McLellan, Ailsa, Montgomery, Tara, Mundada, Vivek, Nairn, Lesley, Sarkar, Ajoy, Schallner, Jens, Pozojevic, Jelena, Parenti, Ilaria, Tan, Jeen, Turnpenny, Peter, Whitehouse, William P., Zuberi, Sameer M.

“…Summary Objective The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy…”
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Clinical and genetic aspects of KBG syndrome by Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton-Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Alison, Holder, Susan, Irving, Melita, Joss, Shelagh, Kivuva, Emma, Lachlan, Kathryn, Magee, Alex, McConnell, Vivienne, McEntagart, Meriel, Metcalfe, Kay, Montgomery, Tara, Newbury-Ecob, Ruth, Stewart, Fiona, Turnpenny, Peter, Vogt, Julie, Fitzpatrick, David, Williams, Maggie, Smithson, Sarah

“…KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of…”
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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients by Ostrowski, Philip J., Zachariou, Anna, Loveday, Chey, Beleza‐Meireles, Ana, Bertoli, Marta, Dean, John, Douglas, Andrew G. L., Ellis, Ian, Foster, Alison, Graham, John M., Hague, Jennifer, Hilhorst‐Hofstee, Yvonne, Hoffer, Mariette, Johnson, Diana, Josifova, Dragana, Kant, Sarina G., Kini, Usha, Lachlan, Katherine, Lam, Wayne, Lees, Melissa, Lynch, Sally, Maitz, Silvia, McKee, Shane, Metcalfe, Kay, Nathanson, Katherine, Ockeloen, Charlotte W., Parker, Michael J., Pierson, Tyler M., Rahikkala, Elisa, Sanchez‐Lara, Pedro A., Spano, Alice, Van Maldergem, Lionel, Cole, Trevor, Douzgou, Sofia, Tatton‐Brown, Katrina

“…CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth…”
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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability by Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish

“…Recent evidence has emerged linking mutations in to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16…”
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Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome by Myers, Kenneth A., White, Susan M., Mohammed, Shehla, Metcalfe, Kay A., Fry, Andrew E., Wraige, Elisabeth, Vasudevan, Pradeep C., Balasubramanian, Meena, Scheffer, Ingrid E.

“…•One third of Bainbridge-Ropers patients have seizures.•Epilepsy features of 3 patients with Bainbridge-Ropers syndrome are presented.•Childhood-onset…”
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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1 , a Rab-6 interacting golgin by Nürnberg, Peter, Dallapiccola, Bruno, Tassabehji, May, Müller, Dietmar, Rajab, Anna, Kornak, Uwe, Budde, Birgit, Zampino, Giuseppe, Nätebus, Marc, Seifert, Wenke, Kaplan, Paige B, Egerer, Johannes, Newman, William, Barr, Francis A, Zhang, Xin, Fodale, Valentina, Hennies, Hans Christian, Mundlos, Stefan, Clayton-Smith, Jill, Wilcox, William R, Metcalfe, Kay, Brancati, Francesco, Kühnisch, Jirko, Zhang, Haikuo, Steinmann, Beat, Wieacker, Peter

“…Gerodermia osteodysplastica is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that gerodermia…”
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Corrigendum to “Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome” [Epilepsy Res. 140 (2018) 166–170] by Myers, Kenneth A., White, Susan M., Mohammed, Shehla, Metcalfe, Kay A., Fry, Andrew E., Wraige, Elisabeth, Vasudevan, Pradeep C., Balasubramanian, Meena, Scheffer, Ingrid E.

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Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia by Broix, Loïc, Jagline, Hélène, L Ivanova, Ekaterina, Schmucker, Stéphane, Drouot, Nathalie, Clayton-Smith, Jill, Pagnamenta, Alistair T, Metcalfe, Kay A, Isidor, Bertrand, Louvier, Ulrike Walther, Poduri, Annapurna, Taylor, Jenny C, Tilly, Peggy, Poirier, Karine, Saillour, Yoann, Lebrun, Nicolas, Stemmelen, Tristan, Rudolf, Gabrielle, Muraca, Giuseppe, Saintpierre, Benjamin, Elmorjani, Adrienne, Moïse, Martin, Weirauch, Nathalie Bednarek, Guerrini, Renzo, Boland, Anne, Olaso, Robert, Masson, Cecile, Tripathy, Ratna, Keays, David, Beldjord, Cherif, Nguyen, Laurent, Godin, Juliette, Kini, Usha, Nischké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Sumara, Izabela, Hinckelmann, Maria-Victoria, Chelly, Jamel

“…Jamel Chelly and colleagues identify mutations in the E3 ubiquitin ligase gene NEDD4L that cause a syndrome of periventricular nodular heterotopia associated…”
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The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated by Caldwell, Jane, Moreton, Natalie, Khan, Naz, Kerzin-Storrar, Lauren, Metcalfe, Kay, Newman, William, Garratt, Clifford J

“…Following national guidance on management of sudden unexplained death (SUD) in the young, inherited cardiac conditions (ICC) clinics were established to…”
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GTF2IRD1 in Craniofacial Development of Humans and Mice by Tassabehji, May, Hammond, Peter, Karmiloff-Smith, Annette, Thompson, Pamela, Thorgeirsson, Snorri S, Durkin, Marian E, Popescu, Nicholas C, Hutton, Timothy, Metcalfe, Kay, Rucka, Agnes, Stewart, Helen, Read, Andrew P, Maconochie, Mark, Donnai, Dian

“…Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial…”
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Discriminating Power of Localized Three-Dimensional Facial Morphology by Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Ann C.M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul, Tassabehji, May

“…Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination…”
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Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients by Karmiloff-Smith, Annette, Broadbent, Hannah, Farran, Emily K, Longhi, Elena, D'Souza, Dean, Metcalfe, Kay, Tassabehji, May, Wu, Rachel, Senju, Atsushi, Happé, Francesca, Turnpenny, Peter, Sansbury, Francis

“…Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS…”
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Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? by Li, Feng, Shen, Yiping, Köhler, Udo, Sharkey, Freddie H, Menon, Deepa, Coulleaux, Laurence, Malan, Valérie, Rio, Marlène, McMullan, Dominic J, Cox, H, Fagan, Kerry A, Gaunt, Lorraine, Metcalfe, Kay, Heinrich, Uwe, Hislop, Gordon, Maye, Una, Sutcliffe, Maxine, Wu, Bai-Lin, Thiel, Brian D, Mulchandani, Surabhi, Conlin, Laura K, Spinner, Nancy B, Murphy, Kathleen M, Batista, Denise A.S

“…Abstract The use of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays has dramatically altered the approach to…”
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Elastin: mutational spectrum in supravalvular aortic stenosis by Metcalfe, K, Rucka, A K, Smoot, L, Hofstadler, G, Tuzler, G, McKeown, P, Siu, V, Rauch, A, Dean, J, Dennis, N, Ellis, I, Reardon, W, Cytrynbaum, C, Osborne, L, Yates, J R, Read, A P, Donnai, D, Tassabehji, M

“…Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as…”
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Cardiac problems in genetic syndromes by Metcalfe, Kay

“…Congenital heart disease affects around 0.7% of liveborn infants and is the most frequent cause of death from congenital malformations. This review will…”
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DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes by Griffiths, Pam, Strong, Kate, Gardner, Sara, Day, Ruth, Harrison, Caroline, Bronwyn, Kerr, Metcalfe, Kay, Brunner, Han, Donnai, Dian, Dallapiccola, Bruno, Devriendt, Koenraad, Krajewska-Walasek, Malgorzata, Philip, Nicole, Clayton-Smith, Jill

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