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Items: 1 to 20 of 802

1.

Inherited disorders of transition metal metabolism: an update.

Clayton PT.

J Inherit Metab Dis. 2017 Mar 16. doi: 10.1007/s10545-017-0030-x. [Epub ahead of print] Review.

PMID:
28303424
2.

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

Reid ES, Williams H, Anderson G, Benatti M, Chong K, James C, Ocaka L; GOSgene., Hemingway C, Little D, Brown R, Parker A, Holden S, Footitt E, Rahman S, Gissen P, Mills PB, Clayton PT.

J Inherit Metab Dis. 2017 Mar 2. doi: 10.1007/s10545-017-0025-7. [Epub ahead of print]

PMID:
28255779
3.

Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.

Mohamed-Ahmed AH, Wilson MP, Albuera M, Chen T, Mills PB, Footitt EJ, Clayton PT, Tuleu C.

J Pharm Pharmacol. 2017 Apr;69(4):480-488. doi: 10.1111/jphp.12701.

PMID:
28220480
4.

Cancer risks in patients treated with growth hormone in childhood: the SAGhE European cohort study.

Swerdlow AJ, Cooke R, Beckers D, Borgström B, Butler G, Carel JC, Cianfarani S, Clayton P, Coste J, Deodati A, Ecosse E, Gausche R, Giacomozzi C, Hokken-Koelega AC, Khan AJ, Kiess W, Kuehni CE, Mullis PE, Pfaffle R, Sävendahl L, Sommer G, Thomas M, Tidblad A, Tollerfield S, Van Eycken L, Zandwijken GR.

J Clin Endocrinol Metab. 2017 Feb 10. doi: 10.1210/jc.2016-2046. [Epub ahead of print] No abstract available.

PMID:
28187225
5.

ASSOCIATION OF SOCIO-ECONOMIC POSITION WITH TECHNIQUE FAILURE AND MORTALITY IN AUSTRALIAN NON-INDIGENOUS PERITONEAL DIALYSIS PATIENTS.

Chan S, Cho Y, Koh YH, Boudville NC, Clayton PA, McDonald SP, Pascoe EM, Francis RS, Mudge DW, Borlace M, Badve SV, Sud K, Hawley CM, Johnson DW.

Perit Dial Int. 2017 Feb 9. pii: pdi.2016.00209. doi: 10.3747/pdi.2016.00209. [Epub ahead of print]

PMID:
28183859
6.

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease.

Tuschl K, Clayton PT, Gospe SM Jr, Mills PB.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2012 Aug 30 [updated 2017 Feb 9].

7.

Vps33b is crucial for structural and functional hepatocyte polarity.

Hanley J, Dhar DK, Mazzacuva F, Fiadeiro R, Burden JJ, Lyne AM, Smith H, Straatman-Iwanowska A, Banushi B, Virasami A, Mills K, Lemaigre FP, Knisely AS, Howe S, Sebire N, Waddington SN, Paulusma CC, Clayton P, Gissen P.

J Hepatol. 2017 Jan 9. pii: S0168-8278(17)30005-3. doi: 10.1016/j.jhep.2017.01.001. [Epub ahead of print]

8.

The neuroendocrine sequelae of paediatric craniopharyngioma: a 40-year meta-data analysis of 185 cases from three UK centres.

Tan TS, Patel L, Gopal-Kothandapani JS, Ehtisham S, Ikazoboh EC, Hayward R, Aquilina K, Skae M, Thorp N, Pizer B, Didi M, Mallucci C, Blair JC, Gaze MN, Kamaly-Asl I, Spoudeas H, Clayton PE.

Eur J Endocrinol. 2017 Mar;176(3):359-369. doi: 10.1530/EJE-16-0812.

PMID:
28073908
9.

Social, educational and vocational outcomes in patients with childhood-onset and young-adult-onset growth hormone deficiency.

Mitra MT, Jönsson P, Åkerblad AC, Clayton P, Kołtowska-Häggström M, Korbonits M, Toogood A, Gleeson H.

Clin Endocrinol (Oxf). 2017 Apr;86(4):526-533. doi: 10.1111/cen.13291.

PMID:
27978600
10.

Gender differences in the dialysis treatment of Indigenous and non-Indigenous Australians.

McKercher C, Jose MD, Grace B, Clayton PA, Walter M.

Aust N Z J Public Health. 2017 Feb;41(1):15-20. doi: 10.1111/1753-6405.12621.

PMID:
27960225
11.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT.

Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011.

PMID:
27912044
12.
13.

Temporal Changes in Deceased Kidney Donor Characteristics in Australia.

Chan S, Campbell SB, Clayton PA, Mudge DW, Cho Y, Hawley CM, Johnson DW, Francis RS.

Transplant Direct. 2016 Oct 25;2(11):e112.

14.

Relationship between eGFR Decline and Hard Outcomes after Kidney Transplants.

Clayton PA, Lim WH, Wong G, Chadban SJ.

J Am Soc Nephrol. 2016 Nov;27(11):3440-3446.

PMID:
27059513
15.

TNFα Variation During the Menstrual Cycle and Thereafter: A New Explanation for Gender-Based Disparities in ICU Admission Rates, Trauma Outcomes, and General Mortality.

Gornicsar K, Mózes T, Grósz A, Bíró E, Ládi S, Clayton P.

Shock. 2017 Apr;47(4):416-421. doi: 10.1097/SHK.0000000000000770.

PMID:
27755396
16.

Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study.

Stevens A, Murray P, Wojcik J, Raelson J, Koledova E, Chatelain P, Clayton P; PREDICT Investigator Group..

Eur J Endocrinol. 2016 Dec;175(6):633-643.

17.

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP.

Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11289-11293.

PMID:
27647924
18.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB.

Brain. 2016 Sep 6. pii: aww221. [Epub ahead of print]

19.

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015. No abstract available.

20.

Overview of dialysis in indigenous compared to nonindigenous Australians.

Khanal N, Clayton P, McDonald S, Jose M.

Clin Nephrol. 2016 Supplement 1;86 (2016)(13):123-127.

PMID:
27469158

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