Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

Autor: Diana Johnson, Jonathan Ellenbogen, Elise Schaefer, Annie Joseph, Gavin Ryan, Ange-Line Bruel, Celia Moss, Rebecca Keelagher, Bethanie Rooke, Alison Foster, Harriet Walker, Pierre Vabres, Quentin Thomas, Trevor Cole, Andrea Jester, Thalia Antoniadi, Rebecca Igbokwe, Maxime Luu, Véronique Quenardelle, Basile Chalot, Christophe Philippe, Arthur Sorlin, Laurence Faivre, Valérie Wolff, Derek Lim, Jessica Woodley, Marc Bardou, Christel Thauvin-Robinet

Publikováno v: Clinical Genetics. 98:19-31

Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of K

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::783d93af261fb6120e351da3ace0e597
https://doi.org/10.1111/cge.13752

Irbesartan in Marfan syndrome (AIMS):a double-blind, placebo-controlled randomised trial

Autor: Michael Mullen, Xu Yu Jin, Anne Child, A Graham Stuart, Matthew Dodd, José Antonio Aragon-Martin, David Gaze, Anatoli Kiotsekoglou, Li Yuan, Jiangting Hu, Claire Foley, Laura Van Dyck, Rosemary Knight, Tim Clayton, Lorna Swan, John D R Thomson, Guliz Erdem, David Crossman, Marcus Flather, John Dean, Bartosz Was, Heather Gow, Jane Murray, Mariella D'Allessandro, Michael Christie, Patricia Cooper, Philip Booth, Sharon Burns, Yvonne Paterson, Ashish Chikermane, Anthony Assing, Catherine Cotter, Gillian Atkins, Helen Williamson, Justin Barclay, Alan Jennison, Alex Henderson, Anna McSkeane, Helen Fairlamb, Julie Kelly, Nicola Kelsall, Scott Prentice, John O'Sullivan, Alison Head-Baister, Angela Phillipson, Anna Johnson, D Crossland, Jack Oliver, Jade Davison, Jill Wake, Louise Quinn, Maureen Foreman, Vera Wealleans, Niki Walker, Alexis Duncan, Evelyn Tibbs, Ruth Kelly, Sachin Khambadkone, Bridget Zotti, Cassie Brady, Elena Cervi, Ella Field, Eszter Szepezvary, Florence Mantey, Gillian Riley, Heather Titmus, Ilaria Bo, Juan Pablo Kaski, Loren Green, Nigel Jones, Rebecca Banks, Christopher Kiesewetter, Sujeev Mathur, Alessandra Frigiola, Alex Savis, Holly Belfield, Josephine Guzman, Julia Harris, Karen Wilson, Kelly Peacock, Kirsty Gibson, Paul Wellman, John Simpson, Saleha Kabir, Sitali Mushemi, Michael Stewart, Bev Atkinson, Cath Richardson, Elaine Leng, Paul Brennan, Annabel Nixon, Collette Spencer, James Oliver, Jan Forster, Louise Turner, Samantha Bainbridge, Anna Maria Choy, Adelle Dawson, Gwen Kiddie, Heather Kerr, Ify Mordi, Jackie Duff, Jacqueline Dunlop, Jonathan Berg, Pauline Armory, Leisa Freeman, Amir Anwar, Charles Graham, Clare London, Gail Healey, Ian Gallagher, Mary Ilsley, Rizwan Ahmed, Sheila Wood, Nigel Wheeldon, Cecilia Mason, Farook Nassim, Janet Middle, Justin Adams, Karen Angelini, Kay Housley, Kim Ryalls, Michael Agyemang, Rachel Walker, Robina Batigan, Tina Bennett, Paul Clift, Amor Mia Alvior, Annette Nilsson, Carole Green, Charlotte Crook, Connie Becani Palmer, Elizabeth Dwenger, Phillipa Doherty, Rebecca Igbokwe, Saba Sharif, Sonia MacDonald, Cathy West, Kevin Kirby, Nitha Naqvi, Sophie Welch, Suad Warsama, Wei Li, Zohreh Farzad, Ben Smith, Victoria Murday, Eamonn Murtagh, Emma Adams, Lesley Armour, Stuart Lilley, Bejal Pandya, Amy Richards, Mervyn Andiapen, Rebecca Macrae, Maite Tome, Carmel Hutchinson, Kameka Angulo, Rooba Kauppayamootoo, Sabiha Gati, Elizabeth Cruddas, William G Newman, Catherine Breen, Dhavendra Kumar, Dirk G Wilson, Adele Farrugia, Alan Fraser, Jayne Sumers, Jessie Powell, Julie Edwards, Terese Hale, Zoe Boult, Aisling Carroll, Gruschen Veldtman, Andrew Ho, David Black, Lisa Fletcher, Sue Mapstone, Tara Bharucha, Gary Marsh, Joanne Jones, Karen Sheehan, Kathleen Selway, Kirsty Stevenson, Martin Nelson, Rebecca Fairweather, Stephanie Curtis, Sue Simpson, Martin Denvir, Audrey White, Jill Steven, Joanna Munro, Wayne Lam, William Toff, Mario Petrou, Paul Silcocks, Raymond MacAllister

Publikováno v: AIMS Investigators 2019, ' Irbesartan in Marfan syndrome (AIMS) : a double-blind, placebo-controlled randomised trial ', The Lancet, vol. 394, no. 10216, pp. 2263-2270 . https://doi.org/10.1016/S0140-6736(19)32518-8
Lancet (London, England)

Background Irbesartan, a long acting selective angiotensin-1 receptor inhibitor, in Marfan syndrome might reduce aortic dilatation, which is associated with dissection and rupture. We aimed to determine the effects of irbesartan on the rate of aortic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0441b350496b5b73a8cd4391e689e32
https://www.research.manchester.ac.uk/portal/en/publications/irbesartan-in-marfan-syndrome-aims(af084357-7f1b-4497-98e8-2d3ee5510721).html

SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series.

Autor: Williams, Sophie T., Chatzikyriakou, Prodromos, Carroll, Paul V., McGowan, Barbara M., Velusamy, Anand, White, Gemma, Obholzer, Rupert, Akker, Scott, Tufton, Nicola, Casey, Ruth T., Maher, Eamonn R., Park, Soo‐Mi, Porteous, Mary, Dyer, Rebecca, Tan, Tricia, Wernig, Florian, Brady, Angela F., Kosicka‐Slawinska, Monika, Whitelaw, Benjamin C., Dorkins, Huw

Publikováno v: Clinical Endocrinology; Apr2022, Vol. 96 Issue 4, p499-512, 14p

New Findings from University of Oxford Update Understanding of Rare Diseases and Conditions (The Impact of Inversions Across 33,924 Familieswith Rare Disease From a Nationalgenome Sequencing Project).

Publikováno v: Genomics & Genetics Weekly; 2024, p883-883, 1p

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Autor: Foster, Alison, Chalot, Basile, Antoniadi, Thalia, Schaefer, Elise, Keelagher, Rebecca, Ryan, Gavin, Thomas, Quentin, Philippe, Christophe, Bruel, Ange‐Line, Sorlin, Arthur, Thauvin‐Robinet, Christel, Bardou, Marc, Luu, Maxime, Quenardelle, Veronique, Wolff, Valerie, Woodley, Jessica, Vabres, Pierre, Lim, Derek, Igbokwe, Rebecca, Joseph, Annie

Publikováno v: Clinical Genetics; Jul2020, Vol. 98 Issue 1, p19-31, 13p, 3 Color Photographs, 1 Black and White Photograph, 2 Diagrams, 1 Chart