檢索結果 - Tessa Homfray

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  1. 1
    A<i>SOX9</i>Duplication and Familial 46,XX Developmental Testicular Disorder

    A<i>SOX9</i>Duplication and Familial 46,XX Developmental Testicular Disorder 由 James J. Cox, Lionel Willatt, Tessa Homfray, C. Geoffrey Woods

    出版 2011
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  2. 2
    Prenatal diagnosis of non‐immune hydrops fetalis: what do we tell the parents?

    Prenatal diagnosis of non‐immune hydrops fetalis: what do we tell the parents? 由 Susana Santo, Sahar Mansour, B. Thilaganathan, Tessa Homfray, Aris T. Papageorghiou, Sandra Calvert, Amar Bhidé

    出版 2011
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  3. 3
    Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion

    Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion 由 Nabeel Sheikh, Michael Papadakis, Mathew G Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R. Behr, Sanjay Sharma

    出版 2018
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  4. 4
    Cerebral organoids model human brain development and microcephaly

    Cerebral organoids model human brain development and microcephaly 由 Madeline A. Lancaster, Magdalena Renner, Carol-Anne Martin, D. Wénzel, Louise S. Bicknell, Matthew E. Hurles, Tessa Homfray, Josef Penninger, Andrew P. Jackson, Juergen A. Knoblich

    出版 2013
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  5. 5
    Detection of structural mosaicism from targeted and whole-genome sequencing data

    Detection of structural mosaicism from targeted and whole-genome sequencing data 由 Daniel A. King, Alejandro Sifrim, Tomas Fitzgerald, Raheleh Rahbari, Emma Hobson, Tessa Homfray, Sahar Mansour, Sarju Mehta, Mohammed Shehla, Susan Tomkins, Pradeep Vasudevan, Matthew E. Hurles

    出版 2017
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  6. 6
    Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

    Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation 由 Zahurul A. Bhuiyan, Tarek Momenah, Qiuming Gong, Ahmad S. Amin, Saleh Al Ghamdi, J. S. Carvalho, Tessa Homfray, Marcel M.A.M. Mannens, Zhengfeng Zhou, Arthur A.M. Wilde

    出版 2008
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  7. 7
    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis 由 S. Gerber, Isabelle Perrault, Sylvain Hanein, Fabienne Barbet, Dominique Ducroq, Imad Ghazi, Dominique Martin–Coignard, Corinne Leowski, Tessa Homfray, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    出版 2001
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  8. 8
    A <i>KCNQ1</i> Mutation Causes a High Penetrance for Familial Atrial Fibrillation

    A <i>KCNQ1</i> Mutation Causes a High Penetrance for Familial Atrial Fibrillation 由 Daniel C. Bartos, Jeffrey Anderson, Rachel Bastiaenen, Jonathan N. Johnson, Michael H. Gollob, David J. Tester, Don E. Burgess, Tessa Homfray, Elijah R. Behr, Michael J. Ackerman, Pascale Guicheney, Brian P. Delisle

    出版 2012
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  9. 9
    Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function

    Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function 由 Lin Lin, Pascal Philibert, Bruno Ferraz‐de‐Souza, Daniel Kelberman, Tessa Homfray, Assunta Albanese, Veruska Molini, Neil J. Sebire, Silvia Einaudi, Gerard S. Conway, Ieuan A. Hughes, J. Larry Jameson, Charles Sultan, Mehul Dattani, John C. Achermann

    出版 2007
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  10. 10
    Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (<scp>FIND</scp>) study: prospective cohort study and meta‐analysis

    Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (<scp>FIND</scp>) study: prospective cohort study and meta‐analysis... 由 Fionnuala Mone, Ruth Y. Eberhardt, Matthew E. Hurles, Dominic McMullan, Eamonn R. Maher, Jenny Lord, Lyn S. Chitty, Esther Dempsey, Tessa Homfray, Jessica L. Giordano, Ronald J. Wapner, Luming Sun, Teresa N. Sparks, Mary E. Norton, Mark D. Kilby

    出版 2021
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  11. 11
    Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

    Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis 由 Elisavet Fotiou, Silvia Martin‐Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, M Snyder, Stanley G. Rockson, Steve Jeffery, Peter Mortimer, Sahar Mansour, Pia Østergaard

    出版 2015
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  12. 12
    Electrocardiographic differentiation between ‘benign T-wave inversion’ and arrhythmogenic right ventricular cardiomyopathy

    Electrocardiographic differentiation between ‘benign T-wave inversion’ and arrhythmogenic right ventricular cardiomyopathy 由 Gherardo Finocchiaro, Michael Papadakis, Harshil Dhutia, Abbas Zaidi, Aneil Malhotra, Elena Fabi, Chiara Cappelletto, Joe Brook, Efstathios Papatheodorou, Bode Ensam, Chris Miles, Rachel Bastiaenen, Virginia Attard, Tessa Homfray, Rajan Sharma, Maite Tome, Gerald Carr‐White, Marco Merlo, Elijah R. Behr, Gianfranco Sinagra, Sanjay Sharma

    出版 2018
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  13. 13
    Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

    Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination 由 Alexander Pearlman, Johnny Loke, Cédric Le Caignec, Stefan J. White, Lisa M. K. Chin, Andrew Friedman, Nick Warr, John Willan, David G. Brauer, Charles B Farmer, Eric D. Brooks, Carole Oddoux, Bridget Riley‐Gillis, Shahin Shajahan, Giovanna Camerino, Tessa Homfray, Andrew H. Crosby, Jennifer Couper, Albert David, Andy Greenfield, Andrew Sinclair, Harry Ostrer

    出版 2010
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  14. 14
    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability 由 Katrina Tatton‐Brown, Sheila Seal, Elise Ruark, Jenny E. Harmer, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Sandra Hanks, Eleanor M. O’Brien, Lise Aksglæde, Diana Baralle, Tabib Dabir, Blanca Gener, David Goudie, Tessa Homfray, Ajith Kumar, Daniela T. Pilz, Angelo Selicorni, I. Karen Temple, Lionel Van Maldergem, Naomi Yachelevich, Robert van Montfort, Nazneen Rahman

    出版 2014
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  15. 15
    Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

    Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome 由 Martha Kalff-Suske, Anja Wild, Juliane Topp, Martina Wessling, Eva‐Maria Jacobsen, Dorothea Bornholdt, Hartmut Engel, Holger Heuer, Cora M. Aalfs, Margreet G.E.M. Ausems, Rita Barone, A Herzog, Peter Heutink, Tessa Homfray, Gabriele Gillessen‐Kaesbach, R. König, J. Kunze, Peter Meinecke, Dietmar Müller, Renata Rizzo, Sibylle Strenge, Andrea Superti‐Furga, Karl‐Heinz Grzeschik

    出版 1999
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  16. 16
    Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

    Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm 由 Alexander Doyle, Jefferson J. Doyle, Seneca L. Bessling, Samantha Maragh, Mark E. Lindsay, Dorien Schepers, Elisabeth Gillis, Geert Mortier, Tessa Homfray, Kimberly Sauls, Russell A. Norris, Nicholas D Huso, Dan Leahy, David W. Mohr, Mark J. Caulfield, Alan F. Scott, Anne Destrèe, Raoul C. M. Hennekam, Pamela Arn, Cynthia J. Curry, Lut Van Laer, Andrew S. McCallion, Bart Loeys, Harry C. Dietz

    出版 2012
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  17. 17
    Mosaic structural variation in children with developmental disorders

    Mosaic structural variation in children with developmental disorders 由 Daniel A. King, Wendy D. Jones, Yanick J. Crow, Anna F. Dominiczak, N Foster, Tom R. Gaunt, Jade Harris, Stephen Hellens, Tessa Homfray, Josie Innes, Elizabeth A. Jones, Shelagh Joss, Abhijit Kulkarni, Sahar Mansour, Andrew D. Morris, Michael Parker, David J. Porteous, Hashem A. Shihab, Blair H. Smith, Katrina Tatton‐Brown, John Tolmie, Maciej Trzaskowski, Pradeep Vasudevan, Emma Wakeling, Michael Wright, Robert Plomin, Nicholas J. Timpson, Matthew E. Hurles

    出版 2015
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  18. 18
    Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism 由 Adam C. Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals, Romina Durigon, Karina Durlacher-Betzer, Mitch Cunningham, Christopher M. Grochowski, Júlia Baptista, Carolyn Tysoe, Emma L. Baple, Nayana Lahiri, Tessa Homfray, Ingrid Scurr, Catherine Armstrong, John Dean, Uxoa Fernández‐Pelayo, Aleck W.E. Jones, Robert W. Taylor, Vinod K. Misra, Wan Hee Yoon, Caroline F. Wright, James R. Lupski, Antonella Spinazzola, Tamar Harel, Ian Holt, Sian Ellard

    出版 2020
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  19. 19
    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene 由 D.M. Hagan, Alison Ross, T Strachan, Sally Ann Lynch, Víctor L. Ruiz‐Pérez, Y.M. Wang, Peter Scambler, Emily Jane Custard, William Reardon, Syahzuwan Hassan, Maximilian Muenke, P. Nixon, Charalambos Papapetrou, R M Winter, Y. Edwards, K. Morrison, Margaret Barrow, M.P. Cordier-Alex, Patrícia Correia, Patricia Galvin‐Parton, Sharon P. Gaskill, K.J. Gaskin, S. Garcia-Minaur, Rani Gereige, Richard Hayward, Tessa Homfray, C McKeown, Victoria Murday, H Plauchu, Nora Shannon, Lewis Spitz, Susan Lindsay

    出版 2000
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  20. 20
    NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

    NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses 由 Nicole J. Van Bergen, Yiran Guo, Julia Rankin, Nicole Paczia, Julia Becker‐Kettern, Laura S. Kremer, Angela Pyle, Jean-François Conrotte, Carolyn Ellaway, Peter Procopis, Kristina Prelog, Tessa Homfray, Júlia Baptista, Emma L. Baple, Matthew N. Wakeling, Sean Massey, Daniel P. Kay, Anju Shukla, Katta M. Girisha, Leslie Lewis, Saikat Santra, Rachel Power, Piers Daubeney, Julio Montoya, Eduardo Ruiz‐Pesini, Réka Kovács-Nagy, Martin Pritsch, Uwe Ahting, David R. Thorburn, Holger Prokisch, Robert W. Taylor, John Christodoulou, Carole L. Linster, Sian Ellard, Hákon Hákonarson

    出版 2018
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