Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Katherine Lachlan"'
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:
Natália Duarte Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa do Carmo Lisboa Cardenas, Heloisa Barbosa Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos Bacino, Bruno Delobel, Paul James, Ann-Charlotte Thuresson, Göran Annerén, Sérgio D. J. Pena
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 3, Pp 349-357
Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibi
Externí odkaz:
https://doaj.org/article/74c8bbfdc24544bbae15febf9d7b19e5
Autor:
Thomas W. Frazier, Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Leslie Speer, Tom Pepper, Kristin Anthony, J. Michael Graglia, Christal Delagrammatikas, Sandra Bedrosian‐Sermone, Jenine Beekhuyzen, Constance Smith‐Hicks, Mustafa Sahin, Charis Eng, Antonia Y. Hardan, Mirko Uljarević
Publikováno v:
American Journal of Medical Genetics Part A.
Autor:
Sofia Siffo, Mauricio Gomes Pio, Elena Bueno Martínez, Katherine Lachlan, Joanna Walker, Jacques Weill, Rogelio González-Sarmiento, Carina M. Rivolta, Héctor M. Targovnik
Thyroglobulin (TG), the predominant glycoprotein of the thyroid gland, functions as matrix protein in thyroid hormonegenesis. TG deficiency results in thyroid dyshormonogenesis. These variants produce a heterogeneous spectrum of congenital goitre, wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfc9c15f53de688bd83a5f5679ac4697
https://doi.org/10.21203/rs.3.rs-2167457/v1
https://doi.org/10.21203/rs.3.rs-2167457/v1
Autor:
Daniel Konrad, Aneta Gawlik, Rajni Sharma, Olcay Evliyaoğlu, Dejun Li, Marek Niedziela, Jeremy W. Tomlinson, Farida Jennane, Nils Krone, Sukran Poyrazoglu, Evgenia Globa, S Faisal Ahmed, Angela K Lucas-Herald, Inas Mazen, Liat de Vries, Andreas Kyriakou, Katherine Lachlan, Wiebke Arlt, Renata Markosyan, Antonia Brooke, Olaf Hiort, Gil Guerra Júnior, Ruth Krone, Colin Johnston, Gloria Hermann, Antonio Balsamo, Corina Lichiardopol, Hedi L Claahsen-van der Grinten, Vandana Jain, Vilhelm Mladenov, Nataliya Zelinska, Naomi Weintrob, Markus Bettendorf, Simone Fica, Ieuan A. Hughes, Laura Audí, Lidka Lisa, Klaus Mohnike, Mona Ellaithi, Paul-Martin Holterhus, Lavinia Nedelea, Mars Skaeil, Rodolfo Rey, Violeta Iotova, Hannema Se, Silvano Bertelloni, Rieko Tadokoro-Cuccaro, Feyza Darendeliler, Jillian Bryce, Lloyd J.W. Tack, Tulay Guran, Odile Gaisl, Justin H Davies, Martine Cools, Anna Nordenström, Federico Baronio, Marie Lindhardt Ljubicic, Ayla Güven
Publikováno v:
European Journal of Endocrinology, 184, 6, pp. 791-801
Lucas-Herald, A K, Bryce, J, Kyriakou, A, Ljubicic, M L, Arlt, W, Audí, L, Balsamo, A, Baronio, F, Bertelloni, S, Bettendorf, M, Brooke, A, Claahsen-van der Grinten, H L, Davies, J, Hermann, G, de Vries, L, Hughes, I A, Tadokoro-Cuccaro, R, Darendeliler, F, Poyrazoglu, S, Ellaithi, M, Evliyaoglu, O, Fica, S, Stejereanu, L, Gawlik, A, Globa, E, Zelinska, N, Guran, T, Güven, A, Hannema, S, Hiort, O, Holterhus, P-M, Iotova, V, Mladenov, V, Jain, V, Sharma, R, Jennane, F, Johnston, C, Guerra-Junior, G, Konrad, D, Gaisl, O, Krone, N P, Krone, R, Lachlan, K, Li, D, Lichiardopol, C, Lisá, L, Markosyan, R L, Mazen, I, Mohnike, K, Niedziela, M, Nordenstrom, A, Rey, R A, Skae, M, Tack, L J, Tomlinson, J W, Weintrob, N, Cools, M & Ahmed, S F 2021, ' Gonadectomy In Conditions Affecting Sex Development-A Registry-Based Cohort Study ', European Journal of Endocrinology, vol. 184, no. 6, pp. 791-801 . https://doi.org/10.1530/EJE-20-1058
European Journal of Endocrinology, 184, 791-801
European Journal of Endocrinology, 184(6), 791-801. BioScientifica Ltd.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 184(6), 791-801. Bioscientifica Ltd
Lucas-Herald, A K, Bryce, J, Kyriakou, A, Ljubicic, M L, Arlt, W, Audí, L, Balsamo, A, Baronio, F, Bertelloni, S, Bettendorf, M, Brooke, A, Claahsen-van der Grinten, H L, Davies, J, Hermann, G, de Vries, L, Hughes, I A, Tadokoro-Cuccaro, R, Darendeliler, F, Poyrazoglu, S, Ellaithi, M, Evliyaoglu, O, Fica, S, Stejereanu, L, Gawlik, A, Globa, E, Zelinska, N, Guran, T, Güven, A, Hannema, S, Hiort, O, Holterhus, P-M, Iotova, V, Mladenov, V, Jain, V, Sharma, R, Jennane, F, Johnston, C, Guerra-Junior, G, Konrad, D, Gaisl, O, Krone, N P, Krone, R, Lachlan, K, Li, D, Lichiardopol, C, Lisá, L, Markosyan, R L, Mazen, I, Mohnike, K, Niedziela, M, Nordenstrom, A, Rey, R A, Skae, M, Tack, L J, Tomlinson, J W, Weintrob, N, Cools, M & Ahmed, S F 2021, ' Gonadectomy In Conditions Affecting Sex Development-A Registry-Based Cohort Study ', European Journal of Endocrinology, vol. 184, no. 6, pp. 791-801 . https://doi.org/10.1530/EJE-20-1058
European Journal of Endocrinology, 184, 791-801
European Journal of Endocrinology, 184(6), 791-801. BioScientifica Ltd.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 184(6), 791-801. Bioscientifica Ltd
Objectives To determine trends in clinical practice for individuals with DSD requiring gonadectomy. Design Retrospective cohort study. Methods Information regarding age at gonadectomy according to diagnosis; reported sex; time of presentation to spec
Autor:
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, Henrietta Lefroy, Bruce Castle, Linda M. Reis, Elena V. Semina, Katherine Lachlan, Kate Chandler, Thomas Wright, Jill Clayton-Smith, Franziska Phan Hug, Nelly Pitteloud, Lucia Bartoloni, Sabine Hoffjan, Soo-Mi Park, Ajay Thankamony, Melissa Lees, Emma Wakeling, Swati Naik, Britta Hanker, Katta M. Girisha, Emanuele Agolini, Zampino Giuseppe, Ziegler Alban, Marine Tessarech, Boris Keren, Alexandra Afenjar, Christiane Zweier, Andre Reis, Thomas Smol, Yoshinori Tsurusaki, Okamoto Nobuhiko, Futoshi Sekiguchi, Naomi Tsuchida, Naomichi Matsumoto, Ikuyo Kou, Yoshiro Yonezawa, Shiro Ikegawa, Bert Callewaert, Megan Freeth, Lotte Kleinendorst, Alan Donaldson, Marielle Alders, Anne De Paepe, Bekim Sadikovic, Alisdair McNeill, Deborah Nickerson, Michael Bamshad, Suzanne Leal, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, null FionaMaleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, null TahrimaRahim, Augusto Rendon, null TimRogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v:
Genetics in medicine, 24(6), 1261-1273. Lippincott Williams and Wilkins
GENETICS IN MEDICINE
Genet Med
GENETICS IN MEDICINE
Genet Med
Purpose: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. Methods: Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and internat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158b0e320e882cf61f6d36ec60d62c1a
Autor:
Sahar Mansour, Sarah F. Smithson, Gillian Rea, Anna Zachariou, Philip J. Ostrowski, Edward Blair, Alison Foster, Sofia Douzgou, Katrina Tatton-Brown, Trevor Cole, Chey Loveday, Elizabeth Thompson, Swati Naik, Diana Baralle, Katherine Lachlan, Michael Field, Claire Kyle, Yves Sznajer
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:638-643
BRWD3 has been described as a cause of X-linked intellectual disability, but relatively little is known about the specific phenotype. We report the largest BRWD3 patient series to date, comprising 17 males with 12 distinct null variants and two parti
Autor:
Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles
Publikováno v:
American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic inf
Autor:
Diana Johnson, Eduardo Calpena, Fiona Blanco Kelly, Elise Boudry-Labis, Anne Dieux-Coeslier, Rachel Harrison, Jenny Morton, Simon J. McGowan, Helen Stewart, Stephen R.F. Twigg, Pradeep C. Vasudevan, Andrew O.M. Wilkie, Katherine Lachlan
Heterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heteroz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be3b3ac6e225058418b772cb6d839a95
https://eprints.soton.ac.uk/452162/
https://eprints.soton.ac.uk/452162/
Autor:
Mark Bateman, Katherine Lachlan, Muriel Holder-Espinasse, Kathy Mann, Justin H Davies, Ved Bhushan Arya, Sophia Sakka
Publikováno v:
Clinical Endocrinology. 92:487-489