Search Results - "Burren CP"

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

Authors: Burren, CP Wanek, D Mohan, S et al.

Source: Acta Paediatrica. Supplement. Feb99 Supplement 428, Vol. 88 Issue s428, p185-191. 7p.

CYP11β1 (11-beta-hydroxylase) deficiency in congenital adrenal hyperplasia.

Authors: BURREN, CP MONTALTO, J YONG, ABW et al.

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

Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth.

Authors: Saraff V Arango-Sancho P Bacchetta J et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Feb 03; Vol. 21 (1). Date of Electronic Publication: 2026 Feb 03.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.

Authors: Shirodkar D Smithson SF Keen R et al.

Source: BMC medical genomics [BMC Med Genomics] 2024 Jun 15; Vol. 17 (1), pp. 160. Date of Electronic Publication: 2024 Jun 15.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Growth reference charts for children with hypochondroplasia.

Authors: Cheung MS Cole TJ Arundel P et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 243-252. Date of Electronic Publication: 2023 Oct 09.

Publication Type: Journal Article

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

AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

Authors: Edgerley K Barnicoat A Offiah AC et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1228-1235. Date of Electronic Publication: 2021 Jan 13.

Publication Type: Case Reports; Journal Article

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

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.

Authors: Di Zanni E Palagano E Lagostena L et al.

Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2021 Mar; Vol. 36 (3), pp. 531-545. Date of Electronic Publication: 2020 Nov 29.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

Authors: Ashraf T Vaina C Giri D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2403-2408. Date of Electronic Publication: 2020 Aug 11.

Publication Type: Case Reports; Journal Article

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

Improvement in glycaemic parameters using SGLT-2 inhibitor and GLP-1 agonist in combination in an adolescent with diabetes mellitus and Prader-Willi syndrome: a case report.

Authors: Candler T McGregor D Narayan K et al.

Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2020 Jul 28; Vol. 33 (7), pp. 951-955.

Publication Type: Case Reports; Journal Article

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

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report.

Authors: Mason AE Grier D Smithson SF et al.

Source: BMC medical genetics [BMC Med Genet] 2020 Mar 30; Vol. 21 (1), pp. 64. Date of Electronic Publication: 2020 Mar 30.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Effective Long-term Pediatric Pegvisomant Monotherapy to Final Height in X-linked Acrogigantism.

Authors: Burren CP Williams G Coxson E et al.

Source: JCEM case reports [JCEM Case Rep] 2023 Jun 15; Vol. 1 (3), pp. luad028. Date of Electronic Publication: 2023 Jun 15 (Print Publication: 2023).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Oxford University Press on behalf of the Endocrine Society Country of Publication: England NLM ID: 9918609886906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2755-1520 (Electronic) Linking ISSN: 27551520 NLM ISO Abbreviation: JCEM Case Rep Subsets: PubMed not MEDLINE

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

Authors: Kanani F Parker MJ Burren CP et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jan; Vol. 179 (1), pp. 139-140. Date of Electronic Publication: 2018 Dec 17.

Publication Type: Letter; Comment

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

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

Authors: Burren CP Caswell R Castle B et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Sep; Vol. 176 (9), pp. 1950-1955. Date of Electronic Publication: 2018 Aug 25.

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

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

Authors: Wei C Burren CP

Source: Pediatric diabetes [Pediatr Diabetes] 2017 Dec; Vol. 18 (8), pp. 835-838. Date of Electronic Publication: 2017 Jan 17.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 100939345 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-5448 (Electronic) Linking ISSN: 1399543X NLM ISO Abbreviation: Pediatr Diabetes Subsets: MEDLINE

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

Authors: Blakes AJM Wai HA Davies I et al.

Corporate Authors: Blakes AJM Wai HA Davies I et al.

Source: Genome medicine [Genome Med] 2022 Jul 26; Vol. 14 (1), pp. 79. Date of Electronic Publication: 2022 Jul 26.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med 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

Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant.

Authors: Fecher-Trost C Wolske K Wesely C et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2021 Nov 24; Vol. 22 (23). Date of Electronic Publication: 2021 Nov 24.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

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

Authors: Prasad R Brewer C Burren CP

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Aug; Vol. 170 (8), pp. 2222-5. Date of Electronic Publication: 2016 May 12.

Publication Type: Case Reports; Letter

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

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

Authors: Ryninks K Sutton E Thomas E et al.

Source: PloS one [PLoS One] 2015 Oct 14; Vol. 10 (10), pp. e0137562. Date of Electronic Publication: 2015 Oct 14 (Print Publication: 2015).

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

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

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.

Authors: Xue JY Wang Z Smithson SF et al.

Source: Journal of human genetics [J Hum Genet] 2021 Apr; Vol. 66 (4), pp. 371-377. Date of Electronic Publication: 2020 Oct 09.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE