Zobrazeno 1 - 10
of 283
pro vyhledávání: '"A Lucas-Herald"'
Autor:
M Guftar Shaikh, Timothy G Barrett, Nicola Bridges, Robin Chung, Evelien F Gevers, Anthony P Goldstone, Anthony Holland, Shankar Kanumakala, Ruth Krone, Andreas Kyriakou, E Anne Livesey, Angela K Lucas-Herald, Christina Meade, Susan Passmore, Edna Roche, Chris Smith, Sarita Soni
Publikováno v:
Endocrine Connections, Vol 13, Iss 8, Pp 1-30 (2024)
Prader–Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000–30,000. Management of people with PWS requires a multi-disciplinary approach, ideally throug
Externí odkaz:
https://doaj.org/article/b5e071824fac41ed87e7162b92387652
Autor:
Courtney L. Willis, Angela K. Lucas-Herald, Chamidri Naotunna, Suet Ching Chen, Rosemarie Davidson, Jairam Sastry, Dermot Murphy, M.Guftar Shaikh, Milind Ronghe
Publikováno v:
EJC Paediatric Oncology, Vol 3, Iss , Pp 100164- (2024)
DICER1 syndrome is a rare tumour predisposition syndrome, associated with a range of benign and malignant tumours, which may occur during childhood. A high index of suspicion is required to ensure appropriate diagnosis and testing, with early treatme
Externí odkaz:
https://doaj.org/article/89fa3c81d4da4171bfc52f03a0b38e68
Autor:
Willis, Courtney L., Lucas-Herald, Angela K., Naotunna, Chamidri, Chen, Suet Ching, Davidson, Rosemarie, Sastry, Jairam, Murphy, Dermot, Shaikh, M.Guftar, Ronghe, Milind
Publikováno v:
In EJC Paediatric Oncology June 2024 3
Autor:
Lucas-Herald, Angela K., Forbes, Owen, McDonald, Heather, McNeilly, Jane, Bradley, Therese, Wood, Daniel, McDevitt, Helen, Houston, James, Mason, Avril
Publikováno v:
In Child Abuse & Neglect May 2024 151
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L., Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H., Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A., Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E., Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M., Rutter, Meilan M., Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya, Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd J.W., Cools, Martine, Ahmed, S. Faisal, Flück, Christa E.
Publikováno v:
In eBioMedicine January 2024 99
Autor:
Tim Cheetham, Sukran Poyrazoglu, Justin H Davies, S Faisal Ahmed, Jillian Bryce, Anna Nordenström, Angela K Lucas-Herald, Paul-Martin Holterhus, Marcio Lopes Miranda, Stuart O’Toole, Eduardo Corrêa Costa, Kathryn Scougall, Federico Baronio, Rachel L Boal, Jose Roberto Castera, Sebastián Castro, Feyza Darendeliler, Mirjam Dirlewanger, Gabriella Gazdagh, Evgenia Globa, Gil Guerra-Junior, Tulay Guran, Gloria Herrmann, Ahsen Karagözlü Akgül, Renata Markosyan, Kenneth McElreavey, Gianni Russo, Valerie Schwitzgebel, Marianna Stancampiano, Michael Steigert
Publikováno v:
World Journal of Pediatric Surgery, Vol 6, Iss 4 (2023)
Background Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence.Methods Data from boys with hypospadias born between 2000 and 2020 were obtained from the Internat
Externí odkaz:
https://doaj.org/article/b2a11fe3b8a642f185956951b5a23a49
Autor:
M. Guftar Shaikh, Angela K. Lucas-Herald, Antonia Dastamani, Maria Salomon Estebanez, Senthil Senniappan, Noina Abid, Sumera Ahmad, Sophie Alexander, Bindu Avatapalle, Neelam Awan, Hester Blair, Roisin Boyle, Alexander Chesover, Barbara Cochrane, Ross Craigie, Annaruby Cunjamalay, Sarah Dearman, Paolo De Coppi, Karen Erlandson-Parry, Sarah E. Flanagan, Clare Gilbert, Niamh Gilligan, Caroline Hall, Jayne Houghton, Ritika Kapoor, Helen McDevitt, Zainab Mohamed, Kate Morgan, Jacqueline Nicholson, Ana Nikiforovski, Elaine O'Shea, Pratik Shah, Kirsty Wilson, Chris Worth, Sarah Worthington, Indraneel Banerjee
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent hypoglycaemia in infants and young children caused by inappropriate insulin over-secretion. CHI is of heterogeneous aetiology with a significant genetic component a
Externí odkaz:
https://doaj.org/article/6ae549a70f2e4683982d8ee5ac0a6878
Autor:
Roth, Lynn, Dogan, Soner, Tuna, Bilge Guvenc, Aranyi, Tamas, Benitez, Sonia, Borrell-Pages, Maria, Bozaykut, Perinur, De Meyer, Guido R.Y., Duca, Laurent, Durmus, Nergiz, Fonseca, Diogo, Fraenkel, Emil, Gillery, Philippe, Giudici, Alessandro, Jaisson, Stéphane, Johansson, Madeleine, Julve, Josep, Lucas-Herald, Angela K., Martinet, Wim, Maurice, Pascal, McDonnell, Barry J., Ozbek, Emine Nur, Pucci, Giacomo, Pugh, Christopher J.A., Rochfort, Keith D., Roks, Anton J.M., Rotllan, Noemi, Shadiow, James, Sohrabi, Yahya, Spronck, Bart, Szeri, Flora, Terentes-Printzios, Dimitrios, Tunc Aydin, Elif, Tura-Ceide, Olga, Ucar, Eda, Yetik-Anacak, Gunay
Publikováno v:
In Ageing Research Reviews December 2023 92
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