Search Results - Tessa Homfray

Refine Results
  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 by James J. Cox, Lionel Willatt, Tessa Homfray, C. Geoffrey Woods

    Published 2011
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  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? by Susana Santo, Sahar Mansour, B. Thilaganathan, Tessa Homfray, Aris T. Papageorghiou, Sandra Calvert, Amar Bhidé

    Published 2011
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  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 by Nabeel Sheikh, Michael Papadakis, Mathew G Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R. Behr, Sanjay Sharma

    Published 2018
    Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Cerebral organoids model human brain development and microcephaly

    Cerebral organoids model human brain development and microcephaly by 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

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Detection of structural mosaicism from targeted and whole-genome sequencing data

    Detection of structural mosaicism from targeted and whole-genome sequencing data by 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

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2008
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2001
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2007
    Get full text
    Artigo
    Save to List
    Saved in:
  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... by 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

    Published 2021
    Get full text
    Revisão
    Save to List
    Saved in:
  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 by 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

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

    Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome by 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

    Published 1999
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Mosaic structural variation in children with developmental disorders

    Mosaic structural variation in children with developmental disorders by 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

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene by 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

    Published 2000
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: