Search Results - "Ades, Lesley"

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation by Chizhikov, Victor V, Krantz, Ian D, Aldinger, Kimberly A, Hudgins, Louanne, Dobyns, William B, Millen, Kathleen J, Lehmann, Ordan J, Bassuk, Alexander G, Ades, Lesley C

“…Dandy-Walker malformation (DWM), the most common human cerebellar malformation, has only one characterized associated locus. Here we characterize a second…”
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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency by Murray, Jennie E., Bicknell, Louise S., Yigit, Gökhan, Duker, Angela L., van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H., Wise, Carol A., Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J. Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C. Geoffrey, Nürnberg, Peter, Gatti, Richard A., Hurles, Matthew, Bober, Michael B., Wollnik, Bernd, Jackson, Andrew P.

“…ABSTRACT Ligase IV syndrome is a rare differential diagnosis for Nijmegen breakage syndrome owing to a shared predisposition to lympho‐reticular malignancies,…”
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A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction by Gold, Wendy A., Sobreira, Nara, Wiame, Elsa, Marbaix, Alexandre, Van Schaftingen, Emile, Franzka, Patricia, Riley, Lisa G., Worgan, Lisa, Hübner, Christian A., Christodoulou, John, Adès, Lesley C.

“…GMPPA encodes the GDP‐mannose pyrophosphorylase A protein (GMPPA). The function of GMPPA is not well defined, however it is a homolog of GMPPB which catalyzes…”
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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations by Regalado, Ellen S, Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C, Ades, Lesley, Benedict, Susan, Bradley, Timothy J, Brickner, M Elizabeth, Chatfield, Kathryn C, Child, Anne, Feist, Cori, Holmes, Kathryn W, Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A, Mitchell, Anna L, Ostergaard, John R, Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M

“…Purpose Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy…”
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Losartan therapy for cardiac disease in paediatric Marfan syndrome by Ewans, Lisa J, Roberts, Phillip, Adès, Lesley

“…A case of severe early‐onset Marfan syndrome (MFS) led us to ask the question: ‘Should an ARB, particularly losartan [intervention], compared with beta…”
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Guidelines for the Diagnosis and Management of Marfan Syndrome by Ades, Lesley, PhD

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Losartan therapy for cardiac disease in paediatricMarfan syndrome by Ewans, Lisa J, Roberts, Phillip, Adès, Lesley

“…A case of severe early-onset Marfan syndrome (MFS) led us to ask the question: 'Should an ARB, particularly losartan [intervention], compared with beta…”
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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection by Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., De Backer, Julie

“…Thoracic aortic aneurysms progressively enlarge and predispose to acute aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an…”
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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey by Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.

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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis by Ewans, Lisa J, Minoche, Andre E, Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C, Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P, Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F, Cowley, Mark J, Dinger, Marcel E, Roscioli, Tony

“…Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain…”
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Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations by Faivre, Laurence, Masurel-Paulet, Alice, Collod-Beroud, Gwenaelle, Callewaert, Bert L, Child, Anne H, Stheneur, Chantal, Binquet, Christine, Gautier, Elodie, Chevallier, Bertrand, Huet, Frederic, Loeys, Bart L, Arbustini, Eloisa, Mayer, Karin, Arslan-Kirchner, Mine, Kiotsekoglou, Anatoli, Comeglio, Paolo, Grasso, Maurizia, Halliday, Dorothy J, Beroud, Christophe, Bonithon-Kopp, Claire, Claustres, Mireille, Robinson, Peter N, Ades, Lesley, De Backer, Julie, Coucke, Paul, Francke, Uta, De Paepe, Anne, Boileau, Catherine, Jondeau, Guillaume

“…From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients <18 years of age at the last follow-up evaluation were analyzed…”
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Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders by Evesson, Frances J, Dziaduch, Gregory, Bryen, Samantha J, Moore, Francesca, Pittman, Sara, Devanapalli, Beena, Waddell, Leigh B, Ryan, Monique M, Menezes, Manoj P, Weihl, Conrad C, Tolun, Adviye Ayper, Zaidman, Craig, Young, Helen, Adès, Lesley C, Cooper, Sandra T

“…Abstract Recessive variants in the oxidoreductase PYROXD1 are reported to cause a myopathy in 22 affected individuals from 15 families. Here, we describe two…”
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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis by Lacombe, Didier, David, Albert, Jeffs, Aaron, Bohring, Axel, Tchan, Michel, Wilson, Louise C, Pearl, Esther, Cormier-Daire, Valérie, Hing, Anne V, Adès, Lesley C, Stewart, Fiona, Porteous, Mary E, Garcia-Miñaur, Sixto, Robertson, Stephen P, Jenkins, Zandra A, Fukuzawa, Ryuji, Hennekam, Raoul C M, Morgan, Tim, Bindoff, Laurence, Donnai, Dian, Fiskerstrand, Torunn, Mansour, Sahar, Berland, Siren, Thaller, Christina, van Kogelenberg, Margriet

“…Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis. Here we demonstrate that germline…”
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Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency by RENARD, Marjolijn, HOLM, Tammy, TRAPANE, Pamela, EARING, Michael G, COUCKE, Paul J, SAKAI, Lynn Y, DIETZ, Harry C, DE PAEPE, Anne M, LOEYS, Bart L, VEITH, Regan, CALLEWAERT, Bert L, ADES, Lesley C, BASPINAR, Osman, PICKART, Angela, DASOUKI, Majed, HOYER, Juliane, RAUCH, Anita

“…Fibulin-4 is a member of the fibulin family, a group of extracellular matrix proteins prominently expressed in medial layers of large veins and arteries…”
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The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype by Van Bon, Bregje W M, Koolen, David A, Brueton, Louise, Mcmullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Moloney, Susan, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, De Brouwer, Arjan P, Veltman, Joris A, De Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, De Vries, Bert Ba

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Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes by Jaeckle Santos, Lane J., Xing, Chao, Barnes, Robert B., Ades, Lesley C., Megarbane, Andre, Vidal, Christopher, Xuereb, Angela, Tarpey, Patrick S., Smith, Raffaella, Khazab, Mahmoud, Shoubridge, Cheryl, Partington, Michael, Futreal, Andrew, Stratton, Michael R., Gecz, Jozef, Zinn, Andrew R.

“…X-linked reticulate pigmentary disorder with systemic manifestations in males (PDR) is very rare. Affected males are characterized by cutaneous and visceral…”
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Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year by Stheneur, Chantal, Faivre, Laurence, Collod-Béroud, Gwenaëlle, Gautier, Elodie, Binquet, Christine, Bonithon-Kopp, Claire, Claustres, Mireille, Child, Anne H, Arbustini, Eloisa, Adès, Lesley C, Francke, Uta, Mayer, Karin, Arslan-Kirchner, Mine, De Paepe, Anne, Chevallier, Bertrand, Bonnet, Damien, Jondeau, Guillaume, Boileau, Catherine

“…Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated…”
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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction by Milewicz, Dianna M., Østergaard, John R., Ala-Kokko, Leena M., Khan, Nadia, Grange, Dorothy K., Mendoza-Londono, Roberto, Bradley, Timothy J., Olney, Ann Haskins, Adès, Lesley, Maher, Joseph F., Guo, Dongchuan, Buja, L. Maximilian, Kim, Dong, Hyland, James C., Regalado, Ellen S.

“…Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the…”
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Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome by Biggin, Andrew, Enriquez, Annabelle, Wong, Melanie, Bennetts, Bruce, Lau, Chiyan, Chan, Cheng Yee, Pinner, Jason, Adelstein, Stephen, Adès, Lesley C.

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Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome by Zentner, Dominica, MBBS, FRACP, PhD, West, Malcolm, MBBS, PhD, FRACP, Adès, Lesley C., MBBS, FRACP, MD

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