Pesquisa | BVS Violência e Saúde

1.

Growth reference charts for children with hypochondroplasia.

Cheung, Moira S; Cole, Tim J; Arundel, Paul; Bridges, Nicola; Burren, Christine P; Cole, Trevor; Davies, Justin Huw; Hagenäs, Lars; Högler, Wolfgang; Hulse, Anthony; Mason, Avril; McDonnell, Ciara; Merker, Andrea; Mohnike, Klaus; Sabir, Ataf; Skae, Mars; Rothenbuhler, Anya; Warner, Justin; Irving, Melita.

Am J Med Genet A ; 194(2): 243-252, 2024 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-37814549

2.

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Hannan, Fadil M; Nesbit, M Andrew; Zhang, Chen; Cranston, Treena; Curley, Alan J; Harding, Brian; Fratter, Carl; Rust, Nigel; Christie, Paul T; Turner, Jeremy J O; Lemos, Manuel C; Bowl, Michael R; Bouillon, Roger; Brain, Caroline; Bridges, Nicola; Burren, Christine; Connell, John M; Jung, Heike; Marks, Eileen; McCredie, David; Mughal, Zulf; Rodda, Christine; Tollefsen, Sherida; Brown, Edward M; Yang, Jenny J; Thakker, Rajesh V.

Hum Mol Genet ; 21(12): 2768-78, 2012 Jun 15.

Artigo em Inglês | MEDLINE | ID: mdl-22422767

3.

Prader-Willi Syndrome: guidance for children and transition into adulthood.

Shaikh, M Guftar; Barrett, Tim; Bridges, Nicola; Chung, Robin; Gevers, Evelien; Goldstone, Anthony P; Holland, Anthony; Kanumakala, Shankar; Krone, Ruth E; Kyriakou, Andreas; Livesey, E Anne; Lucas-Herald, Angela; Meade, Christina; Passmore, Susan; Roche, Edna; Smith, Chris; Soni, Sarita.

Endocr Connect ; 2024 Jun 01.

Artigo em Inglês | MEDLINE | ID: mdl-38838713

4.

Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study.

Miller, Jennifer L; Gevers, Evelien; Bridges, Nicola; Yanovski, Jack A; Salehi, Parisa; Obrynba, Kathryn S; Felner, Eric I; Bird, Lynne M; Shoemaker, Ashley H; Angulo, Moris; Butler, Merlin G; Stevenson, David; Goldstone, Anthony P; Wilding, John; Lah, Melissa; Shaikh, M Guftar; Littlejohn, Elizabeth; Abuzzahab, M Jennifer; Fleischman, Amy; Hirano, Patricia; Yen, Kristen; Cowen, Neil M; Bhatnagar, Anish.

Obesity (Silver Spring) ; 32(2): 252-261, 2024 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-37919617

5.

Diabetes in cystic fibrosis.

Bridges, Nicola.

Paediatr Respir Rev ; 14 Suppl 1: 16-8, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-23522600

6.

Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.

Miller, Jennifer L; Gevers, Evelien; Bridges, Nicola; Yanovski, Jack A; Salehi, Parisa; Obrynba, Kathryn S; Felner, Eric I; Bird, Lynne M; Shoemaker, Ashley H; Angulo, Moris; Butler, Merlin G; Stevenson, David; Abuzzahab, Jennifer; Barrett, Timothy; Lah, Melissa; Littlejohn, Elizabeth; Mathew, Verghese; Cowen, Neil M; Bhatnagar, Anish.

J Clin Endocrinol Metab ; 108(7): 1676-1685, 2023 06 16.

Artigo em Inglês | MEDLINE | ID: mdl-36639249

7.

Hypoventilation disproportionate to OSAS severity in children with Prader-Willi syndrome.

Abel, Francois; Tan, Hui-Leng; Negro, Valentina; Bridges, Nicola; Carlisle, Thomas; Chan, Elaine; Laverty, Aidan; Miligkos, Michael; Samuels, Martin; Kaditis, Athanasios G.

Arch Dis Child ; 104(2): 166-171, 2019 02.

Artigo em Inglês | MEDLINE | ID: mdl-30007944

8.

Hypocalcaemia mimicking long QT syndrome: case report.

Mangat, Jasveer S; Till, Jan; Bridges, Nicola.

Eur J Pediatr ; 167(2): 233-5, 2008 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-17486364

9.

Quantifying fluctuation in glucose levels to identify early changes in glucose homeostasis in cystic fibrosis.

Brugha, Rossa; Wright, Marie; Nolan, Suzie; Bridges, Nicola; Carr, Siobhán B.

J Cyst Fibros ; 17(6): 791-797, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-29329721

10.

HbA1c as a screening tool for cystic fibrosis related diabetes.

Burgess, Juliana C; Bridges, Nicola; Banya, Winston; Gyi, Khin M; Hodson, Margaret E; Bilton, Diana; Simmonds, Nicholas J.

J Cyst Fibros ; 15(2): 251-7, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-25869326

11.

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.

Alsters, Suzanne I M; Goldstone, Anthony P; Buxton, Jessica L; Zekavati, Anna; Sosinsky, Alona; Yiorkas, Andrianos M; Holder, Susan; Klaber, Robert E; Bridges, Nicola; van Haelst, Mieke M; le Roux, Carel W; Walley, Andrew J; Walters, Robin G; Mueller, Michael; Blakemore, Alexandra I F.

PLoS One ; 10(6): e0131417, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-26120850

12.

Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.

Owen, Catherine J; Jennings, Claire E; Imrie, Helen; Lachaux, Alain; Bridges, Nicola A; Cheetham, Tim D; Pearce, Simon H S.

J Clin Endocrinol Metab ; 88(12): 6034-9, 2003 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-14671208

13.

What is the value of growth hormone therapy in Prader Willi syndrome?

Bridges, Nicola.

Arch Dis Child ; 99(2): 166-70, 2014 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-24162007

14.

Age-dependent elevations in plasma kisspeptin are observed in boys and girls when compared with adults.

Jayasena, Channa N; Nijher, Gurjinder M K; Narayanaswamy, Shakunthala; De Silva, Akila; Abbara, Ali; Ghatei, Mohammad A; Bloom, Stephen R; Bridges, Nicola; Dhillo, Waljit S.

Ann Clin Biochem ; 51(Pt 1): 89-96, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-23869023

15.

Response to Letter to the Editor: HbA1c as a screening tool for cystic fibrosis related diabetes: Response to letters by Widger et al. and Schnyder et al.

Burgess, Juliana C; Bridges, Nicola; Winston, Banya; Gyi, Khin M; Hodson, Margaret E; Bilton, Diana; Simmonds, Nicholas J.

J Cyst Fibros ; 15(2): 265-6, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-26711098

16.

Genitopatellar syndrome: a further case.

Brugha, Rossa; Kinali, Maria; Aminu, Kingi; Bridges, Nicola; Holder, Sue E.

Clin Dysmorphol ; 20(3): 163-165, 2011 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21412151

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