Search Results - Ruth McGowan

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  1. 1
    The current state of diagnostic genetics for conditions affecting sex development

    The current state of diagnostic genetics for conditions affecting sex development by D. Alhomaidah, Ruth McGowan, S. Faisal Ahmed

    Published 2016
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  2. 2
    Cellular mosaicism in the methylation and expression of hemizygous loci in the mouse.

    Cellular mosaicism in the methylation and expression of hemizygous loci in the mouse. by Ruth McGowan, Robert M. Campbell, Alan C. Peterson, Carmen Sapienza

    Published 1989
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  3. 3
    Disorders of sex development: advances in genetic diagnosis and challenges in management

    Disorders of sex development: advances in genetic diagnosis and challenges in management by S. Faisal Ahmed, Andreas Kyriakou, Edward S. Tobias, Angela K Lucas‐Herald, Ruth McGowan

    Published 2015
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  4. 4
    The Use of Genetics for Reaching a Diagnosis in XY DSD

    The Use of Genetics for Reaching a Diagnosis in XY DSD by S. Faisal Ahmed, Malika Alimusina, Rafael Loch Batista, Sorahia Domenice, Nathália Lisboa Gomes, Ruth McGowan, Supitcha Patjamontri, Berenice B. Mendonça

    Published 2022
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  5. 5
    Serum Anti-Müllerian Hormone in the Prediction of Response to hCG Stimulation in Children With DSD

    Serum Anti-Müllerian Hormone in the Prediction of Response to hCG Stimulation in Children With DSD by Angela K Lucas‐Herald, Andreas Kyriakou, Malika Alimussina, Guilherme Guaragna‐Filho, Louise A Diver, Ruth McGowan, Karen Smith, Jane McNeilly, S. Faisal Ahmed

    Published 2020
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  6. 6
    Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK

    Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK by Julian D. Gillmore, Mary M. Reilly, Caroline Coats, Robert Cooper, Helen Cox, Mark Coyne, Andrew Green, Ruth McGowan, William E. Moody, Philip N. Hawkins

    Published 2022
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  7. 7
    GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

    GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘... by Laura Audí, S. Faisal Ahmed, Nils Krone, Martine Cools, Ken McElreavey, Paul‐Martin Holterhus, Andy Greenfield, Anu Bashamboo, Olaf Hiort, Stefan A. Wudy, Ruth McGowan, _ _

    Published 2018
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  8. 8
    Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

    Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021) by S. Faisal Ahmed, John C. Achermann, Julie Alderson, Naomi S. Crouch, Sue Elford, Ieuan A. Hughes, Nils Krone, Ruth McGowan, Talat Mushtaq, Stuart O’Toole, Leslie Perry, Martina Rodie, Mars Skae, Helen Turner

    Published 2021
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  9. 9
    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis by Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen‐Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjærgaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Katherine Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter D. Turnpenny, Bregje W.M. van Bon, Dagmar Wieczorek, Ruth Newbury-Ecob

    Published 2011
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  10. 10
    Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients by Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S. Brooks, Philippe M. Campeau, Anne Destrèe, Maja Di Rocco, Dian Donnai, Raoul C. M. Hennekam, Delphine Héron, Sébastien Jacquemont, Pekka Kannus, Angela E. Lin, Sylvie Manouvrier‐Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas‐Rothschild, Marlène Rio, Marleen Simon, Irene Stolte‐Dijkstra, James R. Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloès, Arnold Münnich, Valérie Cormier‐Daire

    Published 2014
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  11. 11
    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder by Sara Cuvertino, Helen M. Stuart, Kate Chandler, Neil Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev S. Bhaskar, Bert Callewaert, Jill Clayton‐Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, M. Cristina Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio González‐Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T., Ruth McGowan, Maryse Des Medt, James D.B. O’Sullivan, Sylvie Odent, Michael Parker, Céline Pebrel‐Richard, Florence Petit, Zornitza Stark, Sylvia Stöckler‐Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah Zahir, Adrian S. Woolf, Siddharth Banka

    Published 2017
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  12. 12
    Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

    Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome by Christopher T. Gordon, Alice Vuillot, Sandrine Marlin, Erica H. Gerkes, Alex Henderson, Adila Al‐Kindy, Muriel Holder‐Espinasse, Sarah Park, Asma Omarjee, Mateo Sanchis-Borja, Eya Ben Bdira, Myriam Oufadem, Birgit Sikkema‐Raddatz, A. Stewart, Rodger Palmer, Ruth McGowan, Florence Petit, Bruno Delobel, Michael R. Speicher, Paul Aurora, David Kilner, P. Pellerin, Marie Simon, Jean‐Paul Bonnefont, Edward S. Tobias, Sixto García‐Miñaúr, Maria Bitner‐Glindzicz, Pernille Lindholm, Brigitte A. Meijer, Véronique Abadie, Françoise Denoyelle, Marie-Paule Vazquez, C Rotky-Fast, V. Couloigner, S. Pierrot, Y Manac'h, Sylvain Breton, Yvonne Hendriks, Arnold Münnich, Linda P. Jakobsen, Peter M. Kroisel, Angela E. Lin, Leonard B. Kaban, Lina Basel‐Vanagaite, Louise C. Wilson, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel

    Published 2013
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  13. 13
    De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

    De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development by Christopher T. Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara Beck, Ruth McGowan, Alex Magee, Janine Altmüller, Camille Dion, Hölger Thiele, Alexandra D. Gurzau, Peter Nürnberg, Dieter Meschede, W. Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S. Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bôle‐Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbįlek, Audrey S.M. Teo, Michael L. Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M. Murphy, Chalermpong Chatdokmaiprai, Axel M. Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E. Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade

    Published 2017
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  14. 14
    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project by Alistair T. Pagnamenta, Jing Yu, Susan Walker, Alexandra Noble, Jenny Lord, Prasun Dutta, Mona Hashim, Carlos Camps, Hannah Green, Smrithi Devaiah, Lina Nashef, Jason Parr, Carl Fratter, Rana Hussein, Sarah Lindsay, Fiona Lalloo, Benito Banos‐Pinero, David M. Evans, Lucy Mallin, Adrian J. Waite, Julie Evans, Andrew G. Newman, Zoe Allen, Cristina Perez‐Becerril, Gavin Ryan, Rachel Hart, John‐Stephen Taylor, Tina Bedenham, Emma Clement, Ed Blair, Eleanor Hay, Francesca Forzano, Jenny Higgs, Natalie Canham, Anirban Majumdar, Meriel McEntagart, Nayana Lahiri, Helen Stewart, Sarah Smithson, Eduardo Calpena, Adam Jackson, Siddharth Banka, Hannah Titheradge, Ruth McGowan, Julia Rankin, Charles Shaw‐Smith, D. Gareth Evans, George J. Burghel, Miriam J. Smith, Emily E. Anderson, Rajesh Madhu, Helen V. Firth, Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin, Mark T. Rogers, Jackie A. Cook, Miranda Durkie, James E. East, Darren Fowler, Louise C. Wilson, Rebecca Igbokwe, Alice Gardham, Ian Tomlinson, Diana Baralle, Holm H. Uhlig, Jenny C. Taylor

    Published 2024
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  15. 15
    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis by Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon

    Published 2019
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  16. 16
    Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

    Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS by Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane Araújo Martins Moreno, Zhong Ren, Hemali Phatnani, Matthew B. Harms, Justin Kwan, Dhruv Sareen, Han‐I Wang, James R. Broach, Zachary Simmons, Ximena Arcila-Londono, Steve Parrott, Edward B. Lee, Steve Parrott, Vivianna M. Van Deerlin, Ernest Fraenkel, Lyle W. Ostrow, Frank Baas, Noah Zaitlen, James Berry, Andrea Malaspina, Pietro Fratta, Gregory A. Cox, Leslie M. Thompson, Steven Finkbeiner, Efthimios Dardiotis, Timothy M. Miller, Siddharthan Chandran, Steve Parrott, Suvankar Pal, Eran Hornstein, Daniel J. MacGowan, Terry Heiman‐Patterson, Molly Hammell, Nikolaos A. Patsopoulos, Josh Dubnau, Avindra Nath, Timothy J. Aitman, Javier Santoyo‐López, Nicola Williams, Jonathan Berg, Ruth McGowan, Zosia Miedzybrodzka, Mary Porteous, Edward S. Tobias, Hiroshi Mitsumoto, Pam Factor‐Litvak, Regina M. Santella, Howard Andrews, Daragh Heitzman, Richard Bedlack, Jonathan Katz, Robert G. Miller, Steve Parrott, Dallas Forshew, Richard J. Barohn, Eric J. Sorenson, Björn Oskarsson, Edward J. Kasarskis, Steve Parrott, Catherine Lomen-Hoerth, Jennifer Murphy, Yvonne D. Rollins, Tahseen Mozaffar, J. Americo Fernandes, Andrea Swenson, Sharon Nations, Jeremy M. Shefner, Jinsy Andrews, Agnes Koczon-Jaremko, Péter L. Nagy, Pam Factor‐Litvak, Rejina Santella, Howard Andrews, Raymond R. Goetz, Chris Gennings, Jennifer Murphy, Mary Kay Floeter, Richard J. Barohn, Sharon Nations, Christen Shoesmith, Edward J. Kasarskis, Matthew Harms, Stanley H. Appel, Robert H. Baloh, Richard Bedlack, Siddharthan Chandran, Laura A. Foster, Stephen A. Goutman, Ericka Greene, Chafic Karam, David Lacomis, George Manousakis, Jonathan Mill, Suvankar Pals, Dhruv Sareen, Alex Sherman, Zachary Simmons

    Published 2024
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