Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Louise Cleal"'
Autor:
Simon Haworth, Chin Yang Shapland, Caroline Hayward, Bram P. Prins, Janine F. Felix, Carolina Medina-Gomez, Fernando Rivadeneira, Carol Wang, Tarunveer S. Ahluwalia, Martine Vrijheid, Mònica Guxens, Jordi Sunyer, Ioanna Tachmazidou, Klaudia Walter, Valentina Iotchkova, Andrew Jackson, Louise Cleal, Jennifer Huffmann, Josine L. Min, Lærke Sass, Paul R. H. J. Timmers, UK10K consortium, George Davey Smith, Simon E. Fisher, James F. Wilson, Tim J. Cole, Dietmar Fernandez-Orth, Klaus Bønnelykke, Hans Bisgaard, Craig E. Pennell, Vincent W. V. Jaddoe, George Dedoussis, Nicholas Timpson, Eleftheria Zeggini, Veronique Vitart, Beate St Pourcain
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Size and shape of the brain are, among others, influenced by the dimensions of the skull. Here, the authors report genome-wide association studies for head circumference and intracranial volume in children and adults and the identification of nine co
Externí odkaz:
https://doaj.org/article/f76d0c11b2064d1e81bbe40dde812983
Autor:
Louise Cleal, Sophie L. McHaffie, Martin Lee, Nick Hastie, Ofelia M. Martínez-Estrada, You-Ying Chau
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 1 (2021)
Congenital diaphragmatic hernia (CDH) is a relatively common developmental defect with considerable mortality and morbidity. Formation of the diaphragm is a complex process that involves several cell types, each with different developmental origins.
Externí odkaz:
https://doaj.org/article/8f1eb4c991f643ee8a4732f5d6db8137
Congenital diaphragmatic hernia (CDH) is a relatively common developmental defect with considerable mortality and morbidity. Diaphragm formation is a complex process, involving several cell types, each with different developmental origins. Due to thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33944a7803ba5e08c6c9f68af5534677
https://doi.org/10.1101/2020.05.19.104703
https://doi.org/10.1101/2020.05.19.104703
Autor:
Clare V, Logan, Jennie E, Murray, David A, Parry, Andrea, Robertson, Roberto, Bellelli, Žygimantė, Tarnauskaitė, Rachel, Challis, Louise, Cleal, Valerie, Borel, Adeline, Fluteau, Javier, Santoyo-Lopez, Tim, Aitman, Inês, Barroso, Donald, Basel, Louise S, Bicknell, Himanshu, Goel, Hao, Hu, Chad, Huff, Michele, Hutchison, Caroline, Joyce, Rachel, Knox, Amy E, Lacroix, Sylvie, Langlois, Shawn, McCandless, Julie, McCarrier, Kay A, Metcalfe, Rose, Morrissey, Nuala, Murphy, Irène, Netchine, Susan M, O'Connell, Ann Haskins, Olney, Nandina, Paria, Jill A, Rosenfeld, Mark, Sherlock, Erin, Syverson, Perrin C, White, Carol, Wise, Yao, Yu, Margaret, Zacharin, Indraneel, Banerjee, Martin, Reijns, Michael B, Bober, Robert K, Semple, Simon J, Boulton, Jonathan J, Rios, Nicola, Williams
Publikováno v:
Logan, C, Murray, J, Parry, D, Robertson, A, Bellelli, R, Tarnauskaite, Z, Challis, R, Cleal, L, Borel, V, Fluteau, A, Santoyo-Lopez, J, SGP Consortium,, Aitman, T, Barroso, I, Basel, D, Bicknell, L, Goel, H, Hu, H, Huff, C, Hutchison, M, Joyce, C, Knox, R, Langlois, S, McCandless, S, McCarrier, J, Morrissey, R, Murphy, N, Netchine, I, O'Connell, S M, Olney, A H, Paria, N, Rosenfeld, J A, Sherlock, M, Syverson, E, White, P, Wise, C, Yu, Y, Zacharin, M, Banerjee, I, Reijns, M, Bober, M B, Semple, R, Boulton, S J, Rios, J J, Jackson, A & Robertson, A 2018, ' DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1038-1044 . https://doi.org/10.1016/j.ajhg.2018.10.024
American Journal of Human Genetics
American Journal of Human Genetics
During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5251341d775fe05227776575d532ec23
https://hdl.handle.net/20.500.11820/a5b9ba45-d8e4-483e-867c-a0708daa62f5
https://hdl.handle.net/20.500.11820/a5b9ba45-d8e4-483e-867c-a0708daa62f5
Autor:
Grainne S. Gorman, William P. Allen, Carol Anne Martin, Rebekah Jobling, Karen E. Heath, Amber Begtrup, Bernd Wollnik, N.S. Ali, Janine Altmüller, Hywel Williams, David A. Parry, Kei Murayama, J. Cruz-Rojo, Nursel Elcioglu, Anna H. Bizard, Yasushi Okazaki, Miriam Aza-Carmona, Fowzan S. Alkuraya, Massimo Bogliolo, Ian D. Hickson, Kata Sarlós, Clare V. Logan, Andrea Leitch, Gökhan Yigit, I Kesterton, Akira Ohtake, Anya Revah-Politi, Masaru Shimura, Roshan Singh Thakur, Jordi Surrallés, A.J. Malallah, Masakazu Kohda, Alejandro Iglesias, Yoshihito Kishita, Roser Pujol, Lesley Turner, Al-Owain, L. Zahavich, Robert W. Taylor, Peter Nürnberg, H.A.M. Dhahrabi, Megan T. Cho, Jimena Barraza-García, Andrew P. Jackson, María José Ramírez, Carolyn Wilson, B.A.Y. Barakat, P. Stevens, P. Le Quesne Stabej, Louise Cleal, Mehul T. Dattani
Publikováno v:
American Journal of Human Genetics
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the prese
Autor:
Dietmar Fernández-Orth, Nicholas J. Timpson, George Dedoussis, Beate St Pourcain, George Davey Smith, Chin Yang Shapland, Tim J Cole, Andrew P. Jackson, Valentina Iotchkova, Jordi Sunyer, Caroline Hayward, Eleftheria Zeggini, Josine L. Min, Fernando Rivadeneira, Simon E. Fisher, Carolina Medina-Gomez, Tarunveer S. Ahluwalia, Ioanna Tachmazidou, Janine F. Felix, Veronique Vitart, Jennifer Huffmann, James F. Wilson, Mònica Guxens, Bram P. Prins, Martine Vrijheid, Hans Bisgaard, Simon Haworth, Craig E. Pennell, Lærke Sass, Vincent W. V. Jaddoe, Louise Cleal, Klaus Bønnelykke, Paul R. H. J. Timmers, Klaudia Walter, Carol A. Wang
Publikováno v:
Nature Communications
Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a8075efec6046758b03c3ee273b3dc
Autor:
Clare V. Logan, Jennie E. Murray, David A. Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valerie Borel, Adeline Fluteau, Javier Santoyo-Lopez, Tim Aitman, Inês Barroso, Donald Basel, Louise S. Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele Hutchison, Caroline Joyce, Rachel Knox, Amy E. Lacroix, Sylvie Langlois, Shawn McCandless, Julie McC
Publikováno v:
The American Journal of Human Genetics
Isolation and Fluorescence-Activated Cell Sorting of Murine WT1-Expressing Adipocyte Precursor Cells
Autor:
Louise, Cleal, You-Ying, Chau
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1467
The current global obesity epidemic has triggered increased interest in adipose tissue biology. A major area of attention for many is adipose tissue development. A greater understanding of adipocyte ontogeny could be highly beneficial in answering qu
Isolation and Fluorescence-Activated Cell Sorting of Murine WT1-Expressing Adipocyte Precursor Cells
Autor:
You-Ying Chau, Louise Cleal
Publikováno v:
The Wilms' Tumor (WT1) Gene ISBN: 9781493940219
The current global obesity epidemic has triggered increased interest in adipose tissue biology. A major area of attention for many is adipose tissue development. A greater understanding of adipocyte ontogeny could be highly beneficial in answering qu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a19260717718fa061adc382401e66e8
https://doi.org/10.1007/978-1-4939-4023-3_7
https://doi.org/10.1007/978-1-4939-4023-3_7