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Items: 1 to 50 of 55

1.

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study, Smithson S.

Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16.

PMID:
31313512
2.

Challenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta.

Clark R, Burren CP, John R.

Eur Arch Paediatr Dent. 2019 Oct;20(5):473-480. doi: 10.1007/s40368-019-00424-w. Epub 2019 Mar 13.

PMID:
30868445
3.

Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype.

Kanani F, Parker MJ, Burren CP, Rankin J, Balasubramanian M.

Am J Med Genet A. 2019 Jan;179(1):139-140. doi: 10.1002/ajmg.a.60680. Epub 2018 Dec 17. No abstract available.

PMID:
30556288
4.

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.

Burren CP, Caswell R, Castle B, Welch CR, Hilliard TN, Smithson SF, Ellard S.

Am J Med Genet A. 2018 Sep;176(9):1950-1955. doi: 10.1002/ajmg.a.40484. Epub 2018 Aug 25.

5.

Pamidronate "zebra lines": A treatment timeline.

Loizidou A, Andronikou S, Burren CP.

Radiol Case Rep. 2017 Aug 9;12(4):850-853. doi: 10.1016/j.radcr.2017.07.003. eCollection 2017 Dec.

6.

Gonadotrophin abnormalities in an infant with Lowe syndrome.

Warner BE, Inward CD, Burren CP.

Endocrinol Diabetes Metab Case Rep. 2017 Apr 19;2017. pii: 16-0042. doi: 10.1530/EDM-17-0042. eCollection 2017.

7.

Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership.

Boyce AM, Turner A, Watts L, Forestier-Zhang L, Underhill A, Pinedo-Villanueva R, Monsell F, Tessaris D, Burren C, Masi L, Hamdy N, Brandi ML, Chapurlat R, Collins MT, Javaid MK.

Arch Osteoporos. 2017 Dec;12(1):21. doi: 10.1007/s11657-016-0271-6. Epub 2017 Feb 27.

8.

Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations.

Wei C, Burren CP.

Pediatr Diabetes. 2017 Dec;18(8):835-838. doi: 10.1111/pedi.12486. Epub 2017 Jan 17.

PMID:
28093873
9.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M.

Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1.

10.

Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis.

Prasad R, Brewer C, Burren CP.

Am J Med Genet A. 2016 Aug;170(8):2222-5. doi: 10.1002/ajmg.a.37731. Epub 2016 May 12. No abstract available.

PMID:
27170295
11.

Attitudes to Exercise and Diabetes in Young People with Type 1 Diabetes Mellitus: A Qualitative Analysis.

Ryninks K, Sutton E, Thomas E, Jago R, Shield JP, Burren CP.

PLoS One. 2015 Oct 14;10(10):e0137562. doi: 10.1371/journal.pone.0137562. eCollection 2015.

12.

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.

Bishop N, Adami S, Ahmed SF, Antón J, Arundel P, Burren CP, Devogelaer JP, Hangartner T, Hosszú E, Lane JM, Lorenc R, Mäkitie O, Munns CF, Paredes A, Pavlov H, Plotkin H, Raggio CL, Reyes ML, Schoenau E, Semler O, Sillence DO, Steiner RD.

Lancet. 2013 Oct 26;382(9902):1424-32. doi: 10.1016/S0140-6736(13)61091-0. Epub 2013 Aug 6.

PMID:
23927913
13.

Authors' reply to Nussey.

Arundel P, Ahmed SF, Allgrove J, Bishop NJ, Burren CP, Jacobs B, Mughal MZ, Offiah AC, Shaw NJ.

BMJ. 2013 Feb 19;346:f964. doi: 10.1136/bmj.f964. No abstract available.

PMID:
23423377
14.

British Paediatric and Adolescent Bone Group's position statement on vitamin D deficiency.

Arundel P, Ahmed SF, Allgrove J, Bishop NJ, Burren CP, Jacobs B, Mughal MZ, Offiah AC, Shaw NJ; British Paediatric and Adolescent Bone Group.

BMJ. 2012 Dec 3;345:e8182. doi: 10.1136/bmj.e8182. No abstract available.

PMID:
23208261
15.

Care of children with diabetes as inpatients: frequency of admissions, clinical care and patient experience.

Edge JA, Ackland F, Payne S, McAulay A, Hind E, Burren C, Burditt J, Sims D.

Diabet Med. 2013 Mar;30(3):363-9. doi: 10.1111/dme.12059.

PMID:
23146103
16.

How does physical activity and fitness influence glycaemic control in young people with Type 1 diabetes?

Cuenca-García M, Jago R, Shield JP, Burren CP.

Diabet Med. 2012 Oct;29(10):e369-76. doi: 10.1111/j.1464-5491.2012.03740.x.

PMID:
22803800
17.

Inpatient care for children with diabetes: are standards being met?

Edge J, Ackland FM, Payne S, McAuley A, Hind E, Burren C, Burditt J, Sims D.

Arch Dis Child. 2012 Jul;97(7):599-603. doi: 10.1136/archdischild-2011-301212. Epub 2012 May 10.

PMID:
22575715
18.

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 FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV.

Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14.

PMID:
22422767
19.

Evaluation and management of bone health in children with epilepsy on long-term antiepileptic drugs: United Kingdom survey of paediatric neurologists.

Fong CY, Mallick AA, Burren CP, Patel JS.

Eur J Paediatr Neurol. 2011 Sep;15(5):417-23. doi: 10.1016/j.ejpn.2011.04.002. Epub 2011 May 14.

PMID:
21571560
20.

Mitochondrial dysfunction in patients with primary congenital insulin resistance.

Sleigh A, Raymond-Barker P, Thackray K, Porter D, Hatunic M, Vottero A, Burren C, Mitchell C, McIntyre M, Brage S, Carpenter TA, Murgatroyd PR, Brindle KM, Kemp GJ, O'Rahilly S, Semple RK, Savage DB.

J Clin Invest. 2011 Jun;121(6):2457-61. doi: 10.1172/JCI46405. Epub 2011 May 9.

21.

Extreme hyponatraemia with intact neurological outcome in a young child with Addison's disease.

Smith JP, Burren C, Cherinet Y.

BMJ Case Rep. 2011 Sep 13;2011. pii: bcr0720114561. doi: 10.1136/bcr.07.2011.4561.

22.

High prevalence of Somali population in children presenting with vitamin D deficiency in the UK.

Modgil G, Williams B, Oakley G, Burren CP.

Arch Dis Child. 2010 Jul;95(7):568-9. doi: 10.1136/adc.2010.187435. Epub 2010 Jun 3. No abstract available.

PMID:
20522462
23.

The continuum of growth hormone-IGF-I axis defects causing short stature: diagnostic and therapeutic challenges.

Savage MO, Burren CP, Rosenfeld RG.

Clin Endocrinol (Oxf). 2010 Jun;72(6):721-8. doi: 10.1111/j.1365-2265.2009.03775.x. Epub 2009 Dec 29. Review.

PMID:
20050859
24.

Middle-term use of Cinacalcet in paediatric dialysis patients.

Platt C, Inward C, McGraw M, Dudley J, Tizard J, Burren C, Saleem MA.

Pediatr Nephrol. 2010 Jan;25(1):143-8. doi: 10.1007/s00467-009-1294-7. Epub 2009 Oct 17.

PMID:
19838738
25.

Backache in a Duchenne boy.

Kinali M, Robinson R, Manzur AY, Burren CP, Robb SA.

Neuromuscul Disord. 2007 Apr;17(4):346-8. Epub 2007 Mar 6. No abstract available.

PMID:
17339110
26.

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.

Lin L, Ercan O, Raza J, Burren CP, Creighton SM, Auchus RJ, Dattani MT, Achermann JC.

J Clin Endocrinol Metab. 2007 Mar;92(3):982-90. Epub 2006 Dec 12.

27.

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.

Lee YS, Challis BG, Thompson DA, Yeo GS, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, Blackwood A, Hung CC, Wareham NJ, Froguel P, Millhauser GL, O'Rahilly S, Farooqi IS.

Cell Metab. 2006 Feb;3(2):135-40.

28.

A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.

Burren CP, Curley A, Christie P, Rodda CP, Thakker RV.

J Pediatr Endocrinol Metab. 2005 Jul;18(7):689-99.

PMID:
16128246
29.

Remitting diabetes: a new genetic subgroup?

Burren CP, Hattersley AT.

Diabetes Care. 2004 Jul;27(7):1836. No abstract available.

PMID:
15220275
30.

Standard and low-dose IGF-I generation tests and spontaneous growth hormone secretion in children with idiopathic short stature.

Blair JC, Camacho-Hübner C, Miraki Moud F, Rosberg S, Burren C, Lim S, Clayton PE, Bjarnason R, Albertsson-Wikland K, Savage MO.

Clin Endocrinol (Oxf). 2004 Feb;60(2):163-8; discussion 161-2.

PMID:
14725676
31.

IGF generation in short stature.

Buckway CK, Selva KA, Burren CP, Pratt KL, Tjoeng E, Guevara-Aguirre J, Rosenfeld RG.

J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1453-4. No abstract available.

PMID:
12511009
32.

Phenotypic variability in growth hormone insensitivity.

Savage MO, Blair JC, Burren CP, Camacho-Hübner C, Woods KA, Metherell L, Clark AJ.

J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1449-50. No abstract available.

PMID:
12511007
33.

The IGF-I generation test revisited: a marker of GH sensitivity.

Buckway CK, Guevara-Aguirre J, Pratt KL, Burren CP, Rosenfeld RG.

J Clin Endocrinol Metab. 2001 Nov;86(11):5176-83.

PMID:
11701674
34.

Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.

Savage MO, Burren CP, Blair JC, Woods KA, Metherell L, Clark AJ, Camacho-Hübner C.

Horm Res. 2001;55 Suppl 2:32-5. Review.

PMID:
11684873
35.

Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome.

Burren CP, Woods KA, Rose SJ, Tauber M, Price DA, Heinrich U, Gilli G, Razzaghy-Azar M, Al-Ashwal A, Crock PA, Rochiccioli P, Yordam N, Ranke MB, Chatelain PG, Preece MA, Rosenfeld RG, Savage MO.

Horm Res. 2001;55(3):125-30.

PMID:
11549873
36.

The insulin-like growth factor binding protein superfamily: new perspectives.

Rosenfeld RG, Hwa V, Wilson L, Lopez-Bermejo A, Buckway C, Burren C, Choi WK, Devi G, Ingermann A, Graham D, Minniti G, Spagnoli A, Oh Y.

Pediatrics. 1999 Oct;104(4 Pt 2):1018-21.

PMID:
10506255
37.

Serum levels of insulin-like growth factor binding proteins in Ecuadorean children with growth hormone insensitivity.

Burren CP, Wanek D, Mohan S, Cohen P, Guevara-Aguirre J, Rosenfeld RG.

Acta Paediatr Suppl. 1999 Feb;88(428):185-91; discussion 192.

PMID:
10102078
38.
39.

Localization studies of IGFBP-2 and IGFBP-5 in the anterior compartment of the eye.

Burren CP, Berka JL, Batch JA.

Curr Eye Res. 1997 Mar;16(3):256-62.

PMID:
9088743
40.

CYP11 beta 1 (11-beta-hydroxylase) deficiency in congenital adrenal hyperplasia.

Burren CP, Montalto J, Yong AB, Batch JA.

J Paediatr Child Health. 1996 Oct;32(5):433-8.

PMID:
8933406
41.

Localization of mRNAs for insulin-like growth factor-I (IGF-I), IGF-I receptor, and IGF binding proteins in rat eye.

Burren CP, Berka JL, Edmondson SR, Werther GA, Batch JA.

Invest Ophthalmol Vis Sci. 1996 Jun;37(7):1459-68.

PMID:
8641849
42.

Skeletal dysplasias: response to growth hormone therapy.

Burren CP, Werther GA.

J Pediatr Endocrinol Metab. 1996 Jan-Feb;9(1):31-40.

PMID:
8887131
43.

Renal transplantation in infants and very small children: 3-year experience in patients treated with triple immunosuppression including cyclosporine.

Burren CP, Francis DM, Powell HR, Jones CL, Walker RG.

Transplant Proc. 1995 Jun;27(3):2145-6. No abstract available.

PMID:
7792913
44.

Renal transplantation in young children.

Burren CP, Jones CL, Francis DM, Powell HR, Walker RG.

Aust N Z J Med. 1995 Apr;25(2):122-6.

PMID:
7605293
45.

The value of flexible bronchoscopy in childhood pulmonary tuberculosis.

de Blic J, Azevedo I, Burren CP, Le Bourgeois M, Lallemand D, Scheinmann P.

Chest. 1991 Sep;100(3):688-92.

PMID:
1909618
46.

Acceleration of B16 melanoma growth in mice after blood transfusion.

Francis DM, Burren CP, Clunie GJ.

Surgery. 1987 Sep;102(3):485-92.

PMID:
3629476
47.

Immunofluorescent studies in filariasis: antibody levels in jirds (Meriones unguiculatus) infected with Brugia malayi.

Singh M, Kane GJ, Burren C, Mackinlay LM.

J Helminthol. 1980 Jun;54(2):147-53.

PMID:
6997364
48.

A method for obtaining large numbers of clean infective larvae of Nematospiroides dubius.

Burren CH.

Z Parasitenkd. 1980;62(1):111-2. No abstract available.

PMID:
7395305
49.

The behaviour of Brugia malayi microfilariae in experimentally infected domestic cats.

Burren CH.

Ann Trop Med Parasitol. 1972 Jun;66(2):235-42. No abstract available.

PMID:
5038248
50.

The distribution of Toxocara canis larvae in the central nervous system of rodents.

Burren CH.

Trans R Soc Trop Med Hyg. 1972;66(6):937-42. No abstract available.

PMID:
4653047

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