Search Results - "Burren C"

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

Authors: Burren, C P Montalto, J Yong, A B et al.

Source: Journal of Paediatrics & Child Health. Oct1996, Vol. 32 Issue 5, p433-438. 6p.

ESTIMATION DE LA DEFORESTATION DES FORETS HUMIDES A MADAGASCAR UTILISANT UNE CLASSIFICATION MULTIDATE D'IMAGES LANDSAT ENTRE 2005, 2010 et 2013.

Authors: Rakotomala, F. A. Rabenandrasana, J. C. Andriambahiny, J. E. et al.

Source: Revue Francaise de Photogrammetrie et de Teledetection. 2015, Issue 211-212, p11-23. 13p.

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

Authors: Edge, J. A. Ackland, F. Payne, S. et al.

Source: Diabetic Medicine. Mar2013, Vol. 30 Issue 3, p363-369. 7p. 1 Diagram, 4 Charts.

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

Authors: Edge J Ackland FM Payne S et al.

Source: Archives of Disease in Childhood. Jul2012, Vol. 97 Issue 7, p599-603. 5p.

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

Authors: Blair, J. C. Camacho-Hübner, C. Moud, F. Miraki et al.

Source: Clinical Endocrinology. Feb2004, Vol. 60 Issue 2, p163-168. 6p.

British Paediatric and Adolescent Bone Group's statement.

Authors: Arundel, Paul Ahmed, S. F. Allgrove, J. et al.

Source: BMJ: British Medical Journal. 12/8/2012, Vol. 345 Issue 7886, p28-28. 2/5p. 1 Color Photograph.

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

Authors: Cuenca-García, M. Jago, R. Shield, J. P. H. et al.

Source: Diabetic Medicine. Oct2012, Vol. 29 Issue 10, pe369-e376. 0p. 1 Diagram, 6 Charts.

The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis.

Authors: Saraff V Sancho PA Bacchetta J et al.

Source: PloS one [PLoS One] 2026 Mar 20; Vol. 21 (3), pp. e0344902. Date of Electronic Publication: 2026 Mar 20 (Print Publication: 2026).

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome - neuro-endocrine tumours (ROHHAD-NET): case series and learning points.

Authors: Hawton K Hilliard T Langton-Hewer SC et al.

Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Jan 25; Vol. 36 (4), pp. 418-423. Date of Electronic Publication: 2023 Jan 25 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.

Authors: Savarirayan R De Bergua JM Arundel P et al.

Source: Therapeutic advances in musculoskeletal disease [Ther Adv Musculoskelet Dis] 2022 Mar 21; Vol. 14, pp. 1759720X221084848. Date of Electronic Publication: 2022 Mar 21 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 101517322 Publication Model: eCollection Cited Medium: Print ISSN: 1759-720X (Print) Linking ISSN: 1759720X NLM ISO Abbreviation: Ther Adv Musculoskelet Dis Subsets: PubMed not MEDLINE

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

Authors: Bownass L Abbs S Armstrong R et al.

Corporate Authors: Bownass L Abbs S Armstrong R et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1884-1894. Date of Electronic Publication: 2019 Jul 16.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemic.

Authors: Smyth D Hytiris M Kelday C et al.

Source: Frontiers in public health [Front Public Health] 2023 Jan 04; Vol. 10, pp. 951569. Date of Electronic Publication: 2023 Jan 04 (Print Publication: 2022).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Internet ISSN: 2296-2565 (Electronic) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: MEDLINE

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

Authors: Boyce AM Turner A Watts L et al.

Source: Archives of osteoporosis [Arch Osteoporos] 2017 Dec; Vol. 12 (1), pp. 21. Date of Electronic Publication: 2017 Feb 27.

Publication Type: Consensus Statement; Journal Article

Journal Info: Publisher: Springer Country of Publication: England NLM ID: 101318988 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1862-3514 (Electronic) NLM ISO Abbreviation: Arch Osteoporos Subsets: MEDLINE

Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.

Authors: Thornley P Bishop N Baker D et al.

Source: Archives of disease in childhood [Arch Dis Child] 2022 May; Vol. 107 (5), pp. 486-490. Date of Electronic Publication: 2021 Nov 08.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE

Monitoring Skull Base Abnormalities in Children with Osteogenesis Imperfecta - Review of Current Practice and a Suggested Clinical Pathway.

Authors: Wadanamby S El Garwany S Connolly D et al.

Corporate Authors: Wadanamby S El Garwany S Connolly D et al.

Source: Bone [Bone] 2022 Jan; Vol. 154, pp. 116235. Date of Electronic Publication: 2021 Oct 22.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

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

Authors: Hannan FM Nesbit MA Zhang C et al.

Source: Human molecular genetics [Hum Mol Genet] 2012 Jun 15; Vol. 21 (12), pp. 2768-78. Date of Electronic Publication: 2012 Mar 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Mitochondrial dysfunction in patients with primary congenital insulin resistance.

Authors: Sleigh A Raymond-Barker P Thackray K et al.

Source: The Journal of clinical investigation [J Clin Invest] 2011 Jun; Vol. 121 (6), pp. 2457-61. Date of Electronic Publication: 2011 May 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Middle-term use of Cinacalcet in paediatric dialysis patients.

Authors: Platt C Inward C McGraw M et al.

Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2010 Jan; Vol. 25 (1), pp. 143-8. Date of Electronic Publication: 2009 Oct 17.

Publication Type: Clinical Trial; Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

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

Authors: Clark R Burren CP John R

Source: European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry [Eur Arch Paediatr Dent] 2019 Oct; Vol. 20 (5), pp. 473-480. Date of Electronic Publication: 2019 Mar 13.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: England NLM ID: 101277157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1996-9805 (Electronic) Linking ISSN: 18186300 NLM ISO Abbreviation: Eur Arch Paediatr Dent Subsets: MEDLINE

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

Authors: Burren CP Curley A Christie P et al.

Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2005 Jul; Vol. 18 (7), pp. 689-99.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Print ISSN: 0334-018X (Print) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE