Pesquisa | Biblioteca Virtual em Saúde

1.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley, Mark T; Reddy, Kaalak; Wills, Jimi; Rosser, Elisabeth; Kamath, Archith; Halachev, Mihail; Falkous, Gavin; Williams, Denise; Cox, Phillip; Meynert, Alison; Raymond, Eleanor S; Morrison, Harris; Brown, Stephen; Allan, Emma; Aligianis, Irene; Jackson, Andrew P; Ramsahoye, Bernard H; von Kriegsheim, Alex; Taylor, Robert W; Finch, Andrew J; FitzPatrick, David R.

PLoS Genet; 15(3): e1007605, 2019 03.

Artigo em Inglês | MEDLINE | ID: mdl-30856165

2.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss, Keren J; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis-Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner-Glindzicz, Maria; Scott, Richard H; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F; Carmichael, Jenny; Chitre, Manali; Henderson, Robert H H; Hurst, Jane; MacLaren, Robert E; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A; Wakeling, Emma; Ouwehand, Willem H; Michaelides, Michel; Moore, Anthony T; Webster, Andrew R; Raymond, F Lucy.

Am J Hum Genet; 100(1): 75-90, 2017 01 05.

Artigo em Inglês | MEDLINE | ID: mdl-28041643

3.

Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.

Adlington, Katherine; Smith, James; Crabtree, Jason; Win, Soe; Rennie, Jade; Khodatars, Kuresh; Rosser, Elisabeth; Hall, Ian.

Am J Med Genet B Neuropsychiatr Genet; 180(8): 566-575, 2019 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-31077569

4.

Clinical and genetic characterization of AP4B1-associated SPG47.

Ebrahimi-Fakhari, Darius; Cheng, Chi; Dies, Kira; Diplock, Amelia; Pier, Danielle B; Ryan, Conor S; Lanpher, Brendan C; Hirst, Jennifer; Chung, Wendy K; Sahin, Mustafa; Rosser, Elisabeth; Darras, Basil; Bennett, James T.

Am J Med Genet A; 176(2): 311-318, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-29193663

5.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Onoufriadis, Alexandros; Shoemark, Amelia; Munye, Mustafa M; James, Chela T; Schmidts, Miriam; Patel, Mitali; Rosser, Elisabeth M; Bacchelli, Chiara; Beales, Philip L; Scambler, Peter J; Hart, Stephen L; Danke-Roelse, Jeannette E; Sloper, John J; Hull, Sarah; Hogg, Claire; Emes, Richard D; Pals, Gerard; Moore, Anthony T; Chung, Eddie M K; Mitchison, Hannah M.

J Med Genet; 51(1): 61-7, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24203976

6.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Sahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Parker, Michael J; Cook, Jacqueline A; Splitt, Miranda; Fisher, Richard B; Fryer, Alan; Magee, Alex C; Wilkie, Andrew; Barnicoat, Angela; Brady, Angela F; Cooper, Nicola S; Mercer, Catherine; Deshpande, Charu; Bennett, Christopher P; Pilz, Daniela T; Ruddy, Deborah; Cilliers, Deirdre; Johnson, Diana S; Josifova, Dragana; Rosser, Elisabeth; Thompson, Elizabeth M; Wakeling, Emma; Kinning, Esther; Stewart, Fiona; Flinter, Frances; Girisha, Katta M; Cox, Helen; Firth, Helen V; Kingston, Helen; Wee, Jamie S; Hurst, Jane A; Clayton-Smith, Jill; Tolmie, John; Vogt, Julie.

J Med Genet; 51(10): 659-68, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25125236

7.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

Aligianis, Irene A; Johnson, Colin A; Gissen, Paul; Chen, Dongrong; Hampshire, Daniel; Hoffmann, Katrin; Maina, Esther N; Morgan, Neil V; Tee, Louise; Morton, Jenny; Ainsworth, John R; Horn, Denise; Rosser, Elisabeth; Cole, Trevor R P; Stolte-Dijkstra, Irene; Fieggen, Karen; Clayton-Smith, Jill; Mégarbané, André; Shield, Julian P; Newbury-Ecob, Ruth; Dobyns, William B; Graham, John M; Kjaer, Klaus W; Warburg, Mette; Bond, Jacqueline; Trembath, Richard C; Harris, Laura W; Takai, Yoshimi; Mundlos, Stefan; Tannahill, David; Woods, C Geoffery; Maher, Eamonn R.

Nat Genet; 37(3): 221-3, 2005 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-15696165

8.

Germline retinoblastoma: estimating risk and counselling the family.

Rosser, Elisabeth; Sagoo, Mandeep S.

Community Eye Health; 31(101): 8-9, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29915459

9.

Epidemiological and genetic considerations in retinoblastoma.

Fabian, Ido Didi; Rosser, Elisabeth; Sagoo, Mandeep S.

Community Eye Health; 31(101): 29-30, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29915469

10.

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

Van Esch, Hilde; Rosser, Elisabeth M; Janssens, Sandra; Van Ingelghem, Ingrid; Loeys, Bart; Menten, Bjorn.

J Med Genet; 47(10): 717-20, 2010 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-20685673

11.

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

Rinne, Tuula; Clements, Suzanne E; Lamme, Evert; Duijf, Pascal H G; Bolat, Emine; Meijer, Rowdy; Scheffer, Hans; Rosser, Elisabeth; Tan, Tiong Yang; McGrath, John A; Schalkwijk, Joost; Brunner, Han G; Zhou, Huiqing; van Bokhoven, Hans.

Hum Mol Genet; 17(13): 1968-77, 2008 Jul 01.

Artigo em Inglês | MEDLINE | ID: mdl-18364388

12.

Contribution of retrotransposition to developmental disorders.

Gardner, Eugene J; Prigmore, Elena; Gallone, Giuseppe; Danecek, Petr; Samocha, Kaitlin E; Handsaker, Juliet; Gerety, Sebastian S; Ironfield, Holly; Short, Patrick J; Sifrim, Alejandro; Singh, Tarjinder; Chandler, Kate E; Clement, Emma; Lachlan, Katherine L; Prescott, Katrina; Rosser, Elisabeth; FitzPatrick, David R; Firth, Helen V; Hurles, Matthew E.

Nat Commun; 10(1): 4630, 2019 Oct 11.

Artigo em Inglês | MEDLINE | ID: mdl-31604926

13.

Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.

Webber, Naomi; O'Toole, Edel A; Paige, David G; Rosser, Elisabeth.

Pediatr Dermatol; 25(3): 401-2, 2008 May-Jun.

Artigo em Inglês | MEDLINE | ID: mdl-18577061

14.

TS or not TS?

Athappily, Cyriac; Patani, Rickie; Chawda, Sanjiv; Rosser, Elisabeth; de Silva, Rajith.

Pract Neurol; 13(4): 268-70, 2013 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-23487808

15.

A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.

Hinds, Anne-Marie; Rosser, Elisabeth; Reddy, M Ashwin.

Ophthalmic Genet; 39(3): 396-398, 2018 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-29617172

16.

Fifteen years of genetic testing from a London developmental clinic.

Best, Sunayna; Rosser, Elisabeth; Bajaj, Monika.

Arch Dis Child; 102(11): 1014-1018, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28659270

17.

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

Baig, Sheharyar S; Strong, Mark; Rosser, Elisabeth; Taverner, Nicola V; Glew, Ruth; Miedzybrodzka, Zosia; Clarke, Angus; Craufurd, David.

Eur J Hum Genet; 25(11): 1290, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-29023437

18.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Pagnamenta, Alistair T; Murakami, Yoshiko; Taylor, John M; Anzilotti, Consuelo; Howard, Malcolm F; Miller, Venessa; Johnson, Diana S; Tadros, Shereen; Mansour, Sahar; Temple, I Karen; Firth, Rachel; Rosser, Elisabeth; Harrison, Rachel E; Kerr, Bronwen; Popitsch, Niko; Kinoshita, Taroh; Taylor, Jenny C; Kini, Usha.

Eur J Hum Genet; 25(6): 669-679, 2017 06.

Artigo em Inglês | MEDLINE | ID: mdl-28327575

19.

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

Baig, Sheharyar S; Strong, Mark; Rosser, Elisabeth; Taverner, Nicola V; Glew, Ruth; Miedzybrodzka, Zosia; Clarke, Angus; Craufurd, David; Quarrell, Oliver W.

Eur J Hum Genet; 24(10): 1396-402, 2016 10.

Artigo em Inglês | MEDLINE | ID: mdl-27165004

20.

The use of whole-exome sequencing to disentangle complex phenotypes.

Williams, Hywel J; Hurst, John R; Ocaka, Louise; James, Chela; Pao, Caroline; Chanudet, Estelle; Lescai, Francesco; Stanescu, Horia C; Kleta, Robert; Rosser, Elisabeth; Bacchelli, Chiara; Beales, Philip.

Eur J Hum Genet; 24(2): 298-301, 2016 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-26059842

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.

Clinical and genetic characterization of AP4B1-associated SPG47.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

Germline retinoblastoma: estimating risk and counselling the family.

Epidemiological and genetic considerations in retinoblastoma.

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

Contribution of retrotransposition to developmental disorders.

Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.

TS or not TS?

A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.

Fifteen years of genetic testing from a London developmental clinic.

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

The use of whole-exome sequencing to disentangle complex phenotypes.