The Ehlers–Danlos syndromes, rare types
Brady, Angela F., Demirdas, Serwet, Fournel‐Gigleux, Sylvie, Ghali, Neeti, Giunta, Cecilia, Kapferer‐Seebacher, Ines, Kosho, Tomoki, Mendoza‐Londono, Roberto, Pope, Michael F., Rohrbach, Marianne, Van Damme, Tim, Vandersteen, Anthony, van Mourik, Caroline, Voermans, Nicol, Zschocke, Johannes, Malfait, Fransiska
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2017)
Get full text
Journal Article
Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature
Kapferer-Seebacher, Ines, Oakley-Hannibal, Elizabeth, Lepperdinger, Ulrike, Johnson, Diana, Ghali, Neeti, Brady, Angela F, Sobey, Glenda, Zschocke, Johannes, van Dijk, Fleur S
Published in Genetics in medicine (01.02.2021)
Published in Genetics in medicine (01.02.2021)
Get full text
Journal Article
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature
Murch, Oliver, Jain, Vani, Benneche, Andreas, Metcalfe, Kay, Hobson, Emma, Prescott, Katrina, Chandler, Kate, Ghali, Neeti, Carmichael, Jenny, Foulds, Nicola C, Paulsen, Julie, Smeland, Marie F, Berland, Siren, Fry, Andrew E
Published in European journal of human genetics : EJHG (01.01.2022)
Published in European journal of human genetics : EJHG (01.01.2022)
Get full text
Journal Article
Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
Green, Claire, Ghali, Neeti, Akilapa, Rhoda, Angwin, Chloe, Baker, Duncan, Bartlett, Marion, Bowen, Jessica, Brady, Angela F., Brock, Joanna, Chamberlain, Erin, Cheema, Harveer, McConnell, Vivienne, Crookes, Renarta, Kazkaz, Hanadi, Johnson, Diana, Pope, F. Michael, Vandersteen, Anthony, Sobey, Glenda, van Dijk, Fleur S.
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
Get full text
Journal Article
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome
Weerakkody, Ruwan A., Vandrovcova, Jana, Kanonidou, Christina, Mueller, Michael, Gampawar, Piyush, Ibrahim, Yousef, Norsworthy, Penny, Biggs, Jennifer, Abdullah, Abdulshakur, Ross, David, Black, Holly A., Ferguson, David, Cheshire, Nicholas J., Kazkaz, Hanadi, Grahame, Rodney, Ghali, Neeti, Vandersteen, Anthony, Pope, F. Michael, Aitman, Timothy J.
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
Get full text
Journal Article
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Ghali, Neeti, Baker, Duncan, Brady, Angela F., Burrows, Nigel, Cervi, Elena, Cilliers, Deirdre, Frank, Michael, Germain, Dominique P., Hulmes, David J.S., Jacquemont, Marie-line, Kannu, Peter, Lefroy, Henrietta, Legrand, Anne, Pope, F. Michael, Robertson, Lisa, Vandersteen, Anthony, von Klemperer, Kate, Warburton, Renarta, Whiteford, Margo, van Dijk, Fleur S.
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
Get full text
Journal Article
An exemplary model of genetic counselling for highly specialised services
Harris, Juliette, Bartlett, Marion, Baker, Duncan, Berlin, Cheryl, Bowen, Jessica, Cummings, Carole, Fallows, Christina, Green, Claire, Griffin, Jared, Julier, Kay, Kammin, Tammy, Sehra, Ravinder, Stacey, Clare, Cobben, Jan, Ghali, Neeti, Johnson, Diana, Sobey, Glenda, van Dijk, Fleur S
Published in Journal of community genetics (01.04.2023)
Published in Journal of community genetics (01.04.2023)
Get full text
Journal Article
Duplication of 10q24 locus: broadening the clinical and radiological spectrum
Holder-Espinasse, Muriel, Jamsheer, Aleksander, Escande, Fabienne, Andrieux, Joris, Petit, Florence, Sowinska-Seidler, Anna, Socha, Magdalena, Jakubiuk-Tomaszuk, Anna, Gerard, Marion, Mathieu-Dramard, Michèle, Cormier-Daire, Valérie, Verloes, Alain, Toutain, Annick, Plessis, Ghislaine, Jonveaux, Philippe, Baumann, Clarisse, David, Albert, Farra, Chantal, Colin, Estelle, Jacquemont, Sébastien, Rossi, Annick, Mansour, Sahar, Ghali, Neeti, Moncla, Anne, Lahiri, Nayana, Hurst, Jane, Pollina, Elena, Patch, Christine, Ahn, Joo Wook, Valat, Anne-Sylvie, Mezel, Aurélie, Bourgeot, Philippe, Zhang, David, Manouvrier-Hanu, Sylvie
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
Get full text
Journal Article
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients
Angwin, Chloe, Brady, Angela F, Colombi, Marina, Ferguson, David J P, Pollitt, Rebecca, Pope, F Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S
Published in Genes (27.09.2019)
Published in Genes (27.09.2019)
Get full text
Journal Article
SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
Get full text
Journal Article
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Kaplanis, Joanna, Samocha, Kaitlin E, Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J, Eberhardt, Ruth Y, Gallone, Giuseppe, Lelieveld, Stefan H, Martin, Hilary C, McRae, Jeremy F, Short, Patrick J, Torene, Rebecca I, de Boer, Elke, Danecek, Petr, Gardner, Eugene J, Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R F, Yeung, Alison, Yntema, Helger G, Vissers, Lisenka E L M, Juusola, Jane, Wright, Caroline F, Brunner, Han G, Firth, Helen V, FitzPatrick, David R, Barrett, Jeffrey C, Hurles, Matthew E, Gilissen, Christian, Retterer, Kyle
Published in Nature (London) (29.10.2020)
Published in Nature (London) (29.10.2020)
Get full text
Journal Article
Prevalence and architecture of de novo mutations in developmental disorders
McRae, Jeremy F, Clayton, Stephen, Mason, Laura E, Tivey, Adrian R, Ahmed, Munaza, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Bennett, Chris, Bernhard, Birgitta, Bevan, A. Paul, Blair, Edward, Blyth, Moira, Burn, John, Castle, Bruce, Clasper, Susan, Collins, Amanda, Collinson, Morag N, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, Dean, John, Donnai, Dian, Ellard, Sian, Ellis, Ian, Everest, Sarah, Foulds, Nicola, Fryer, Alan, Gaunt, Lorraine, Goudie, David, Gray, Emma, Greene, Philip, Gribble, Susan, Henderson, Alex, Hildyard, Lucy, Holden, Simon, Holder, Muriel, Ingram, Stuart, Jackson, Andrew, Kaemba, Beckie, Kazembe, Sandra, Kinning, Esther, Kraus, Alison, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lim, Derek, Longman, Cheryl, Lynch, Sally A, Maher, Eddy, Maye, Una, McKay, Kirsten, McWilliam, Catherine, Metcalfe, Kay, Morgan, Sian, Murday, Victoria, Murphy, Helen, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Park, Soo-Mi, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Pratt, Norman, Quarrell, Oliver, Randall, Josh, Rankin, Julia, Raymond, Lucy, Robert, Leema, Roberts, Paul, Saggar, Anand, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Selby, Ann, Sequeira, Cheryl, Shearing, Emma, Smith, Audrey, Smith, Kath, Splitt, Miranda, Suri, Mohnish, Sutton, Vivienne, Tatton-Brown, Kate, Temple, I. Karen, Turner, Claire, Varghese, Vinod, Vasudevan, Pradeep, Vogt, Julie, Wakeling, Emma, Wilcox, Sarah, Williams, Denise, Williams, Nicola, Wilson, Louise, Wright, Michael, Yates, Laura, Yau, Michael, Wright, Caroline F, FitzPatrick, David R, Barrett, Jeffrey C
Published in Nature (London) (23.02.2017)
Published in Nature (London) (23.02.2017)
Get full text
Journal Article
The 2017 international classification of the Ehlers–Danlos syndromes
Malfait, Fransiska, Francomano, Clair, Byers, Peter, Belmont, John, Berglund, Britta, Black, James, Bloom, Lara, Bowen, Jessica M., Brady, Angela F., Burrows, Nigel P., Castori, Marco, Cohen, Helen, Colombi, Marina, Demirdas, Serwet, De Backer, Julie, De Paepe, Anne, Fournel‐Gigleux, Sylvie, Frank, Michael, Ghali, Neeti, Giunta, Cecilia, Grahame, Rodney, Hakim, Alan, Jeunemaitre, Xavier, Johnson, Diana, Juul‐Kristensen, Birgit, Kapferer‐Seebacher, Ines, Kazkaz, Hanadi, Kosho, Tomoki, Lavallee, Mark E., Levy, Howard, Mendoza‐Londono, Roberto, Pepin, Melanie, Pope, F. Michael, Reinstein, Eyal, Robert, Leema, Rohrbach, Marianne, Sanders, Lynn, Sobey, Glenda J., Van Damme, Tim, Vandersteen, Anthony, van Mourik, Caroline, Voermans, Nicol, Wheeldon, Nigel, Zschocke, Johannes, Tinkle, Brad
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2017)
Get full text
Journal Article
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D, Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Vonk Noordegraaf, Anton, Wilkins, Martin R, Wort, Stephen J, Wharton, John, Gräf, Stefan, Morrell, Nicholas W
Published in Circulation (New York, N.Y.) (21.11.2017)
Published in Circulation (New York, N.Y.) (21.11.2017)
Get full text
Journal Article
The Phenotypic Continuum of ATP1A3 -Related Disorders
Vezyroglou, Aikaterini, Akilapa, Rhoda, Barwick, Katy, Koene, Saskia, Brownstein, Catherine A, Holder-Espinasse, Muriel, Fry, Andrew E, Németh, Andrea H, Tofaris, George K, Hay, Eleanor, Hughes, Imelda, Mansour, Sahar, Mordekar, Santosh R, Splitt, Miranda, Turnpenny, Peter D, Demetriou, Demetria, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Agrawal, Pankaj B, Carr, Lucinda, Clowes, Virginia, Ghali, Neeti, Holder, Susan Elizabeth, Radley, Jessica, Male, Alison, Sisodiya, Sanjay M, Kurian, Manju A, Cross, J Helen, Balasubramanian, Meena
Published in Neurology (04.10.2022)
Published in Neurology (04.10.2022)
Get more information
Journal Article