Búsqueda | Portal de Búsqueda de la BVS

1.

Taking after a parent: Phenotypic resemblance and the professional familialisation of genomics.

Hedgecoe, Adam; Job, Kathleen; Clarke, Angus.

Sociol Health Illn ; 46(2): 257-275, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-37583081

2.

A holistic approach to fragile X syndrome integrated guidance for person-centred care.

Johnson, Kirsten; Stanfield, Andrew C; Scerif, Gaia; McKechanie, Andrew; Clarke, Angus; Herring, Jonathan; Smith, Kayla; Crawford, Hayley.

J Appl Res Intellect Disabil ; 37(3): e13214, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38383947

3.

Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices.

Perrot, Adeline; Clarke, Angus; Vassy, Carine; Horn, Ruth.

J Genet Couns ; 2023 Nov 16.

Artículo en Inglés | MEDLINE | ID: mdl-37975159

4.

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Levy, Michael A; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S; Cherick, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie R; Piccione, Maria; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.

Hum Mutat ; 43(11): 1609-1628, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-35904121

5.

In the family: access to, and communication of, familial information in clinical practice.

Lucassen, Anneke; Clarke, Angus.

Hum Genet ; 141(5): 1053-1058, 2022 May.

Artículo en Inglés | MEDLINE | ID: mdl-34878592

6.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Klöckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E; Bakker, Dewi P; Barwick, Katy; Bonfert, Michaela V; Bönnemann, Carsten G; Brilstra, Eva H; Chung, Wendy K; Clarke, Angus J; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A; Lee, Virgina; Leppig, Kathleen A; Lundgren, Johan; McDonald, Marie T; McLaughlin, Heather M; McTague, Amy; Mefford, Heather C; Mignot, Cyril; Mikati, Mohamad A; Nava, Caroline; Raymond, F Lucy; Sampson, Julian R; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T C; Shinawi, Marwan; Slavotinek, Anne; Stödberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A; Taylor, Ashley C; Toler, Tomi L; van den Boogaard, Marie-José; van der Crabben, Saskia N; van Gassen, Koen L I; van Jaarsveld, Richard H; Van Ziffle, Jessica.

Genet Med ; 23(4): 653-660, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33299146

7.

Assessing sensitivity to change of the genomics outcome scale (GOS).

Ting, Michael Sing Onn; Clarke, Angus; McAllister, Marion.

J Genet Couns ; 30(6): 1767-1772, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-33934436

8.

Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases.

Mendes, Álvaro; Sequeiros, Jorge; Clarke, Angus J.

J Genet Couns ; 30(5): 1480-1490, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-33893685

9.

Ethics experts and fetal patients: a proposal for modesty.

Schmitz, Dagmar; Clarke, Angus.

BMC Med Ethics ; 22(1): 161, 2021 12 03.

Artículo en Inglés | MEDLINE | ID: mdl-34861862

10.

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.

Körber, Iris; Klein, Ophir D; Morhart, Patrick; Faschingbauer, Florian; Grange, Dorothy K; Clarke, Angus; Bodemer, Christine; Maitz, Silvia; Huttner, Kenneth; Kirby, Neil; Durand, Caroline; Schneider, Holm.

Br J Clin Pharmacol ; 86(10): 2063-2069, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32250462

11.

Including ELSI research questions in newborn screening pilot studies.

Goldenberg, Aaron J; Lloyd-Puryear, Michele; Brosco, Jeffrey P; Therrell, Bradford; Bush, Lynn; Berry, Susan; Brower, Amy; Bonhomme, Natasha; Bowdish, Bruce; Chrysler, Denise; Clarke, Angus; Crawford, Thomas; Goldman, Edward; Hiner, Sally; Howell, R Rodney; Orren, David; Wilfond, Benjamin S; Watson, Michael.

Genet Med ; 21(3): 525-533, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30100612

12.

27 years of prenatal diagnosis for Huntington disease in the United Kingdom.

Piña-Aguilar, Raul E; Simpson, Sheila A; Alshatti, Abdulrahman; Clarke, Angus; Craufurd, David; Dorkins, Huw; Doye, Karen; Lahiri, Nayana; Lashwood, Alison; Lynch, Colleen; Miller, Claire; Morton, Sally; O'Driscoll, Mary; Quarrell, Oliver W; Rae, Daniela; Strong, Mark; Tomlinson, Charlotte; Turnpenny, Peter; Miedzybrodzka, Zosia.

Genet Med ; 21(7): 1639-1643, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-30546084

13.

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Wright, John Timothy; Fete, Mary; Schneider, Holm; Zinser, Madelaine; Koster, Maranke I; Clarke, Angus J; Hadj-Rabia, Smail; Tadini, Gianluca; Pagnan, Nina; Visinoni, Atila F; Bergendal, Birgitta; Abbott, Becky; Fete, Timothy; Stanford, Clark; Butcher, Clayton; D'Souza, Rena N; Sybert, Virginia P; Morasso, Maria I.

Am J Med Genet A ; 179(3): 442-447, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30703280

14.

Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

Hammersen, Johanna; Wohlfart, Sigrun; Goecke, Tamme W; Köninger, Angela; Stepan, Holger; Gallinat, Ralph; Morris, Susan; Bücher, Katharina; Clarke, Angus; Wünsche, Stephanie; Beckmann, Matthias W; Schneider, Holm; Faschingbauer, Florian.

Prenat Diagn ; 39(9): 796-805, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-30394555

15.

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare.

Vockley, Jerry; Brunetti-Pierri, Nicola; Chung, Wendy K; Clarke, Angus J; Gold, Nina; Green, Robert C; Kagan, Stephen; Moroz, Tara; Schaaf, Christian P; Schulz, Martin; De Baere, Elfride.

Genet Med ; 25(4): 100022, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-36681872

16.

Response to Beretich and Beretich.

Vockley, Jerry; Brunetti-Pierri, Nicola; Chung, Wendy K; Clarke, Angus J; Gold, Nina; Green, Robert C; Kagan, Stephen; Moroz, Tara; Schaaf, Christian P; Schulz, Martin; De Baere, Elfride.

Genet Med ; 25(10): 100903, 2023 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-37245089

17.

Terminology and Consistency.

Clarke, Angus.

Am J Bioeth ; 23(3): 53-55, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36919554

18.

Communication of Information about Genetic Risks: Putting Families at the Center.

Mendes, Álvaro; Metcalfe, Alison; Paneque, Milena; Sousa, Liliana; Clarke, Angus J; Sequeiros, Jorge.

Fam Process ; 57(3): 836-846, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-28714147

19.

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.

Quarrell, Oliver W; Clarke, Angus J; Compton, Cecilia; de Die-Smulders, Christine E M; Fryer, Alan; Jenkins, Sian; Lahiri, Nayana; MacLeod, Rhona; Miedzybrodzka, Zosia; Morrison, Patrick J; Musgrave, Hannah; O'Driscoll, Mary; Strong, Mark; van Belzen, Martine J; Vermeer, Sascha; Verschuuren-Bemelmans, Corien C; Bijlsma, Emilia K.

Am J Med Genet B Neuropsychiatr Genet ; 177(1): 35-39, 2018 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-29095566

20.

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Williamson, Kathleen A; Rainger, Joe; Floyd, James A B; Ansari, Morad; Meynert, Alison; Aldridge, Kishan V; Rainger, Jacqueline K; Anderson, Carl A; Moore, Anthony T; Hurles, Matthew E; Clarke, Angus; van Heyningen, Veronica; Verloes, Alain; Taylor, Martin S; Wilkie, Andrew O M; Fitzpatrick, David R.

Am J Hum Genet ; 94(2): 295-302, 2014 Feb 06.

Artículo en Inglés | MEDLINE | ID: mdl-24462371

Portal de Búsqueda de la BVS

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: