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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. Bownass L, et al. Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16. Am J Med Genet A. 2019. PMID: 31313512 Free article.
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Ashraf T, Vaina C, Giri D, Burren CP, James M, Offiah AC, Overton T, Baptista J, Ellard S, Smithson SF. Ashraf T, et al. Among authors: burren cp. Am J Med Genet A. 2020 Oct;182(10):2403-2408. doi: 10.1002/ajmg.a.61781. Epub 2020 Aug 11. Am J Med Genet A. 2020. PMID: 32783357
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF. Edgerley K, et al. Among authors: burren cp. Am J Med Genet A. 2021 Apr;185(4):1228-1235. doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33439541 Free article.
Gonadotrophin abnormalities in an infant with Lowe syndrome.
Warner BE, Inward CD, Burren CP. Warner BE, et al. Among authors: burren cp. Endocrinol Diabetes Metab Case Rep. 2017 Apr 19;2017:16-0042. doi: 10.1530/EDM-17-0042. eCollection 2017. Endocrinol Diabetes Metab Case Rep. 2017. PMID: 28469921 Free PMC article.
62 results