Results 101 to 110 of about 10,250,216 (364)

Medical genetics: Development of ethical dimensionsin clinical practice and research [PDF]

, 2016
A Witness Seminar on the emergence of complex ethical issues in clinical genetics practice, the evolution of these issues over several decades of advances in medical genetics research and social change, and the professionalization of this field.
Jones, EM, Tansey, EM
core  

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. [PDF]

, 2020
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia.
Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco JC, de Zubicaray, Greig I, de Zwarte, Sonja MC, Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A, Gústafsson, Ómar, Haavik, Jan, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hellard, Stephanie Le, Hibar, Derrek P, Hillegers, Manon HJ, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Håberg, Asta, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma EM, Kolskår, Knut K, Kwok, John B, Leu, Costin, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J, Martin, Nicholas G, Martin-Brevet, Sandra, Mather, Karen, Mathias, Samuel R, McCormack, Mark, McMahon, Katie L, McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Murray, Robin, Mühleisen, Thomas W, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Sønderby, Ida E   +99 more
core   +1 more source

Parent‐to‐Child Information Disclosure in Pediatric Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Despite professional consensus regarding the importance of open communication with pediatric cancer patients about their disease, actual practice patterns of disclosure are understudied. Extant literature suggests a significant proportion of children are not told about their diagnosis/prognosis, which is purported to negatively ...
Rachel A. Kentor, Flora Hoodin, Michelle Byrd, Kristin A. Kullgren, Leah LaLonde, Lauren Benkoske, Patrick Smith, Dawn Carson, Karen MacDonald, Susumu Inoue, Brenda Kitchen, Kate Gowans, Gregory A. Yanik   +12 more
wiley   +1 more source

Promoting genetics in non-alcoholic fatty liver disease: Combined risk score through polymorphisms and clinical variables

World Journal of Gastroenterology, 2018
Non-alcoholic fatty liver disease (NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma (HCC). Therefore, risk stratification emerges as fundamental in order
U. Vespasiani‐Gentilucci, Paolo Gallo, Chiara dell'Unto, Mara Volpentesta, R. Antonelli-Incalzi, A. Picardi   +5 more
semanticscholar   +1 more source

Predicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning‐Based Approaches

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives To identify predictors of chronic ITP (cITP) and to develop a model based on several machine learning (ML) methods to estimate the individual risk of chronicity at the timepoint of diagnosis. Methods We analyzed a longitudinal cohort of 944 children enrolled in the Intercontinental Cooperative immune thrombocytopenia (ITP) Study ...
Severin Kasser, Alice Bizeul, Meera Chitlur, Hugo Donato, Jelena Roganovic, Julia E. Vogt, Thomas Kühne   +6 more
wiley   +1 more source

THBS1 identificated as an endometriosis biomarker through evidence from single-cell and bulk transcriptomic profiling

iScience
Summary: Endometriosis affects a substantial number of women of reproductive age, yet current diagnostic methods rely on invasive procedures. To address this limitation, we investigated THBS1 as a potential biomarker and regulator of disease progression.
Liqi Zhang, Junyan Ma, Yuhui Sun, Jue Zhu, Huaqing Yan, Yichen Chen, Jing Zhang   +6 more
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Prognostic Impact of Treatment Modalities, Including Targeted Compartmental Radio‐Immunotherapy, in a Cohort of Neuroblastoma Patients With CNS Metastases at Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neuroblastoma (NB) with central nervous system (CNS) metastases is rare at diagnosis, but occurs more often during relapse/progression. Patients with CNS metastases face a dismal prognosis, with no standardized curative treatment available.
Vicente Santa‐Maria Lopez, Anna Felip‐Badia, Marina Caballero‐Bellon, Nazaret Sanchez‐Sierra, Alicia Castañeda, Moira Garraus, Maite Gorostegui, Margarida Simão‐Rafael, Juan Pablo Muñoz, Marta Perez‐Somarriba, Salvador Mañe, Mariana Cecilia Planells, Sara Perez‐Jaume, Jaume Mora   +13 more
wiley   +1 more source

Clinical genetics [PDF]

BMJ, 2001
J. P. van Tintelen, C. Marcelis, I. M. van Langen   +2 more
  +5 more sources

Molecular Dynamics Studies on HIV-1 Protease: Drug Resistance and Folding Pathways [PDF]

, 2001
Drug resistance to HIV-1 Protease involves accumulation of multiple mutations in the protein. Here we investigate the role of these mutations by using molecular dynamics simulations which exploit the influence of the native-state topology in the folding ...
Carloni, Paolo, Cecconi, Fabio, Maritan, Amos, Micheletti, Cristian   +3 more
core   +2 more sources