Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Central Reading of Ulcerative Colitis Clinical Trial Videos Using Neural Networks.

Gottlieb, Klaus; Requa, James; Karnes, William; Chandra Gudivada, Ranga; Shen, Jie; Rael, Efren; Arora, Vipin; Dao, Tyler; Ninh, Andrew; McGill, James.

Gastroenterology ; 160(3): 710-719.e2, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33098883

2.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Coman, David; Vissers, Lisenka E L M; Riley, Lisa G; Kwint, Michael P; Hauck, Roxanna; Koster, Janet; Geuer, Sinje; Hopkins, Sarah; Hallinan, Barbra; Sweetman, Larry; Engelke, Udo F H; Burrow, T Andrew; Cardinal, John; McGill, James; Inwood, Anita; Gurnsey, Christine; Waterham, Hans R; Christodoulou, John; Wevers, Ron A; Pitt, James.

Am J Hum Genet ; 103(1): 125-130, 2018 07 05.

Artigo em Inglês | MEDLINE | ID: mdl-29909962

3.

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

Ewing, Adam D; Cheetham, Seth W; McGill, James J; Sharkey, Michael; Walker, Rick; West, Jennifer A; West, Malcolm J; Summers, Kim M.

Am J Med Genet A ; 185(7): 2070-2083, 2021 07.

Artigo em Inglês | MEDLINE | ID: mdl-33960642

4.

Triple P for Parents of Children with Phenylketonuria: A Nonrandomized Trial.

Mitchell, Amy E; Morawska, Alina; Kirby, Grace; McGill, James; Coman, David; Inwood, Anita.

J Pediatr Psychol ; 46(2): 208-218, 2021 02 19.

Artigo em Inglês | MEDLINE | ID: mdl-33296470

5.

Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators.

Morawska, Alina; Mitchell, Amy E; Etel, Evren; Kirby, Grace; McGill, James; Coman, David; Inwood, Anita.

Child Care Health Dev ; 46(1): 56-65, 2020 01.

Artigo em Inglês | MEDLINE | ID: mdl-31782540

6.

The effect of height, weight and head circumference on gross motor development in achondroplasia.

Ireland, Penelope Jane; Ware, Robert S; Donaghey, Samantha; McGill, James; Zankl, Andreas; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron; Johnston, Leanne M.

J Paediatr Child Health ; 49(2): E122-7, 2013 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-23336715

7.

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Rutsch, Frank; Ruf, Nico; Vaingankar, Sucheta; Toliat, Mohammad R; Suk, Anita; Höhne, Wolfgang; Schauer, Galen; Lehmann, Mandy; Roscioli, Tony; Schnabel, Dirk; Epplen, Jörg T; Knisely, Alex; Superti-Furga, Andrea; McGill, James; Filippone, Marco; Sinaiko, Alan R; Vallance, Hillary; Hinrichs, Bernd; Smith, Wendy; Ferre, Merry; Terkeltaub, Robert; Nürnberg, Peter.

Nat Genet ; 34(4): 379-81, 2003 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-12881724

8.

A Term Newborn with Suspected Sepsis Following Prolonged Premature Rupture of Membranes.

Wilgen, Urs; Garizio, Dominique; McGill, James.

Clin Chem ; 63(12): 1906-1908, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-29184040

9.

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.

Michot, Caroline; Hubert, Laurence; Romero, Norma B; Gouda, Amr; Mamoune, Asmaa; Mathew, Suja; Kirk, Edwin; Viollet, Louis; Rahman, Shamima; Bekri, Soumeya; Peters, Heidi; McGill, James; Glamuzina, Emma; Farrar, Michelle; von der Hagen, Maya; Alexander, Ian E; Kirmse, Brian; Barth, Magalie; Laforet, Pascal; Benlian, Pascale; Munnich, Arnold; JeanPierre, Marc; Elpeleg, Orly; Pines, Ophry; Delahodde, Agnès; de Keyzer, Yves; de Lonlay, Pascale.

J Inherit Metab Dis ; 35(6): 1119-28, 2012 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-22481384

10.

Recent developments in the diagnosis of Marfan syndrome and related disorders.

Summers, Kim M; West, Jennifer A; Hattam, Annette; Stark, Denis; McGill, James J; West, Malcolm J.

Med J Aust ; 197(9): 494-7, 2012 Nov 05.

Artigo em Inglês | MEDLINE | ID: mdl-23121584

11.

Development in children with achondroplasia: a prospective clinical cohort study.

Ireland, Penelope J; Donaghey, Samantha; McGill, James; Zankl, Andreas; Ware, Robert S; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron; Johnston, Leanne M.

Dev Med Child Neurol ; 54(6): 532-7, 2012 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22409389

12.

Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.

Ireland, Penelope J; Johnson, Sarah; Donaghey, Samantha; Johnston, Leanne; Ware, Robert S; Zankl, Andreas; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron; McGill, James.

J Paediatr Child Health ; 48(5): 443-9, 2012 May.

Artigo em Inglês | MEDLINE | ID: mdl-22112170

13.

Functional performance in young Australian children with achondroplasia.

Ireland, Penelope Jane; McGill, James; Zankl, Andreas; Ware, Robert S; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth M; Townshend, Sharron; Johnston, Leanne Marie.

Dev Med Child Neurol ; 53(10): 944-50, 2011 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-21838822

14.

Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.

Sharman, Rachael; Sullivan, Karen A; Young, Ross McD; McGill, James J.

J Inherit Metab Dis ; 33 Suppl 3: S417-20, 2010 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-20882350

15.

Uniting Discovery and Care: The Role of Pharmaceutical Companies in Research, Clinical Studies, and Patient Care.

Tan, Chenyun; McGill, James M; Mallbris, Lotus.

J Invest Dermatol ; 140(3): 527-530, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-31972248

16.

Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy.

Mattke, Adrian C; Shikata, Fumiaki; McGill, James; Justo, Rob; Venugopal, Prem.

JIMD Rep ; 55(1): 12-14, 2020 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-32905004

17.

Safety, efficacy, and pharmacokinetic overview of low-dose daily administration of tadalafil.

Wrishko, Rebecca; Sorsaburu, Sebastian; Wong, David; Strawbridge, Andrew; McGill, James.

J Sex Med ; 6(7): 2039-48, 2009 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-19453893

18.

Retinal hemorrhages associated with meningitis in a child with a congenital disorder of glycosylation.

Ong, Beng Beng; Gole, Glen A; Robertson, Thomas; McGill, James; de Lore, Danny; Crawford, Maree.

Forensic Sci Med Pathol ; 5(4): 307-12, 2009 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19851897

19.

MELAS syndrome in an Indigenous Australian woman.

Conway, Luke J; Robertson, Thomas E; McGill, James J; Hanson, Josh P.

Med J Aust ; 195(10): 581-2, 2011 Nov 21.

Artigo em Inglês | MEDLINE | ID: mdl-22107001

20.

Music, the food of neuroscience?

Zatorre, Robert; McGill, James.

Nature ; 434(7031): 312-5, 2005 Mar 17.

Artigo em Inglês | MEDLINE | ID: mdl-15772648

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