Pesquisa | Portal de Pesquisa da BVS

1.

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Evers, Jochem M G; Laskowski, Roman A; Bertolli, Marta; Clayton-Smith, Jill; Deshpande, Charu; Eason, Jacqueline; Elmslie, Frances; Flinter, Frances; Gardiner, Carol; Hurst, Jane A; Kingston, Helen; Kini, Usha; Lampe, Anne K; Lim, Derek; Male, Alison; Naik, Swati; Parker, Michael J; Price, Sue; Robert, Leema; Sarkar, Ajoy; Straub, Volker; Woods, Geoff; Thornton, Janet M; Wright, Caroline F.

Hum Mol Genet ; 26(3): 519-526, 2017 02 01.

Artigo em Inglês | MEDLINE | ID: mdl-28053047

2.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Reijnders, Margot R F; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny M A; Veenstra-Knol, Hermine E; Anderlid, Britt-Marie M; Wood, Stephen A; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M; Vreeburg, Maaike; Hobson, Emma; Sutton, V Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske.

Am J Hum Genet ; 98(2): 373-81, 2016 Feb 04.

Artigo em Inglês | MEDLINE | ID: mdl-26833328

3.

Further delineation of Malan syndrome.

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela.

Hum Mutat ; 39(9): 1226-1237, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-29897170

4.

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Owen, Ceris I; Bowden, Ramsay; Parker, Michael J; Patterson, Jo; Patterson, Joan; Price, Sue; Sarkar, Ajoy; Castle, Bruce; Deshpande, Charulatha; Splitt, Miranda; Ghali, Neeti; Dean, John; Green, Andrew J; Crosby, Charlene; Tatton-Brown, Katrina.

Am J Med Genet A ; 176(5): 1108-1114, 2018 05.

Artigo em Inglês | MEDLINE | ID: mdl-29383814

5.

Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?

Yu, Andrea C; Zambrano, Regina M; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan-Jordan, Jean; Armour, Christine M.

Am J Med Genet A ; 173(6): 1593-1600, 2017 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-28440577

6.

Note from the President.

Berners-Price, Sue.

J Biol Inorg Chem ; 25(6): 925-926, 2020 09.

Artigo em Inglês | MEDLINE | ID: mdl-32926232

7.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp, Andrew J; Hansen, Sierra; Selzer, Rebecca R; Cheng, Ze; Regan, Regina; Hurst, Jane A; Stewart, Helen; Price, Sue M; Blair, Edward; Hennekam, Raoul C; Fitzpatrick, Carrie A; Segraves, Rick; Richmond, Todd A; Guiver, Cheryl; Albertson, Donna G; Pinkel, Daniel; Eis, Peggy S; Schwartz, Stuart; Knight, Samantha J L; Eichler, Evan E.

Nat Genet ; 38(9): 1038-42, 2006 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-16906162

8.

Milder phenotypes of glucose transporter type 1 deficiency syndrome.

Anand, Geetha; Padeniya, Anuruddha; Hanrahan, Donncha; Scheffer, Hans; Zaiwalla, Zenobia; Cox, Debbie; Mann, Nicholas; Hewertson, John; Price, Sue; Nemeth, Andrea; Arsov, Todor; Scheffer, Ingrid; Jayawant, Sandeep; Pike, Michael; McShane, Tony.

Dev Med Child Neurol ; 53(7): 664-8, 2011 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21649651

9.

Clinical and radiological findings in Schinzel-Giedion syndrome.

Al-Mudaffer, Mudaffer; Oley, Christine; Price, Sue; Hayes, Ian; Stewart, Alison; Hall, Christine M; Reardon, William.

Eur J Pediatr ; 167(12): 1399-407, 2008 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-18461363

10.

Pain relief for the removal of femoral sheath in interventional cardiology adult patients.

Wensley, Cynthia J; Kent, Bridie; McAleer, Mike B; Price, Sue M; Stewart, Jim T.

Cochrane Database Syst Rev ; (4): CD006043, 2008 Oct 08.

Artigo em Inglês | MEDLINE | ID: mdl-18843700

11.

Further delineation of the KAT6B molecular and phenotypic spectrum.

Gannon, Tamsin; Perveen, Rahat; Schlecht, Hélene; Ramsden, Simon; Anderson, Beverley; Kerr, Bronwyn; Day, Ruth; Banka, Siddharth; Suri, Mohnish; Berland, Siren; Gabbett, Michael; Ma, Alan; Lyonnet, Stan; Cormier-Daire, Valerie; Yilmaz, Rüstem; Borck, Guntram; Wieczorek, Dagmar; Anderlid, Britt-Marie; Smithson, Sarah; Vogt, Julie; Moore-Barton, Heather; Simsek-Kiper, Pelin Ozlem; Maystadt, Isabelle; Destrée, Anne; Bucher, Jessica; Angle, Brad; Mohammed, Shehla; Wakeling, Emma; Price, Sue; Singer, Amihood; Sznajer, Yves; Toutain, Annick; Haye, Damien; Newbury-Ecob, Ruth; Fradin, Melanie; McGaughran, Julie; Tuysuz, Beyhan; Tein, Mark; Bouman, Katelijne; Dabir, Tabib; Van den Ende, Jenneke; Luk, Ho Ming; Pilz, Daniela T; Eason, Jacqueline; Davies, Sally; Reardon, Willie; Garavelli, Livia; Zuffardi, Orsetta; Devriendt, Koen; Armstrong, Ruth.

Eur J Hum Genet ; 23(9): 1165-70, 2015 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-25424711

12.

Six-month angiographic and 12-month clinical follow-up of MultiLink long (25 to 35 mm) stents for long coronary narrowings in patients with angina pectoris.

Ormiston, John A; Webster, Mark W I; Ruygrok, Peter N; Meredith, Ian T; Ardill, Justin P; Buller, Christopher E; Ricci, Donald R; Chan, Charles; Devlin, Gerard P; Stewart, James T; Penn, Ian M; Price, Sue; Webber, Bruce; West, Teena.

Am J Cardiol ; 90(3): 222-6, 2002 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-12127607

13.

Employing children's nurses?

Price, Sue.

Paediatr Nurs ; 15(3): 24-7, 2003 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-12715586

14.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; Darin, Niklas; Dixit, Abhijit; Fluss, Joel; Foulds, Nicola; Fowler, Darren; Hortobágyi, Tibor; Jacques, Thomas; King, Mary D; Makrythanasis, Periklis; Máté, Adrienn; Nicoll, James A R; O'Rourke, Declan; Price, Sue; Williams, Andrew N; Wilson, Louise; Suri, Mohnish; Sztriha, Laszlo; Dijns-de Wissel, Marit B; van Meegen, Mia T; van Ruissen, Fred; Aronica, Eleonora; Troost, Dirk; Majoie, Charles Blm; Marquering, Henk A; Poll-Thé, Bwee Tien; Baas, Frank.

Orphanet J Rare Dis ; 9: 23, 2014 Feb 13.

Artigo em Inglês | MEDLINE | ID: mdl-24524299

15.

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; Price, Sue; Prabhakar, Prab; Marinova, Jasmina; Brown, Garry; McShane, Tony.

Arch Dis Child ; 98(12): 1004-7, 2013 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-24047924

16.

Preface.

Gahan, Lawrence; Comba, Peter; Schenk, Gerhard; Daumann, Lena; Hambley, Trevor; Berners-Price, Sue.

J Inorg Biochem ; 162: 162-163, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27816087

17.

The recruitment and retention of children's nurses.

Price, Sue.

Paediatr Nurs ; 14(6): 39-43, 2002 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-12219396

18.

Characterization of a recurrent 15q24 microdeletion syndrome.

Sharp, Andrew J; Selzer, Rebecca R; Veltman, Joris A; Gimelli, Stefania; Gimelli, Giorgio; Striano, Pasquale; Coppola, Antonietta; Regan, Regina; Price, Sue M; Knoers, Nine V; Eis, Peggy S; Brunner, Han G; Hennekam, Raoul C; Knight, Samantha J L; de Vries, Bert B A; Zuffardi, Orsetta; Eichler, Evan E.

Hum Mol Genet ; 16(5): 567-72, 2007 Mar 01.

Artigo em Inglês | MEDLINE | ID: mdl-17360722

19.

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

Monk, David; Bentley, Louise; Hitchins, Megan; Myler, Rachael A; Clayton-Smith, Jill; Ismail, Samira; Price, Sue M; Preece, Michael A; Stanier, Philip; Moore, Gudrun E.

Hum Genet ; 111(4-5): 376-87, 2002 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-12384779

20.

Vessel caliber and restenosis: a prospective clinical and angiographic study of NIR stent deployment in small and large coronary arteries in the same patient.

Ruygrok, Peter N; Webster, Mark W; Ardill, Justin J; Chan, Charles C; Mak, Koon H; Meredith, Ian T; Stewart, James T; Ormiston, John A; Price, Sue.

Catheter Cardiovasc Interv ; 59(2): 165-71, 2003 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-12772233

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