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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: malpas tj. Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Nat Genet. 2016. PMID: 27571260 Free PMC article.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: malpas tj. Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. Nat Genet. 2017. PMID: 28138155 No abstract available.
PHACES syndrome.
Mahadi S, Malpas T, O'Donnell A, Roman K, Jephson C. Mahadi S, et al. Arch Dis Child Fetal Neonatal Ed. 2012 May;97(3):F209-10. doi: 10.1136/archdischild-2011-300557. Epub 2011 Dec 1. Arch Dis Child Fetal Neonatal Ed. 2012. PMID: 22138083 No abstract available.
Controlled Trial of Two Incremental Milk-Feeding Rates in Preterm Infants.
Dorling J, Abbott J, Berrington J, Bosiak B, Bowler U, Boyle E, Embleton N, Hewer O, Johnson S, Juszczak E, Leaf A, Linsell L, McCormick K, McGuire W, Omar O, Partlett C, Patel M, Roberts T, Stenson B, Townend J; SIFT Investigators Group. Dorling J, et al. N Engl J Med. 2019 Oct 10;381(15):1434-1443. doi: 10.1056/NEJMoa1816654. N Engl J Med. 2019. PMID: 31597020 Free article. Clinical Trial.
Cleft lip and palate with lip pits and ankyloblepharon.
Malpas T, Singh D, Sarvasiddhi S, Lawrenson D, Wellesley D. Malpas T, et al. J Paediatr Child Health. 2017 Sep;53(9):919. doi: 10.1111/jpc.1_13512. J Paediatr Child Health. 2017. PMID: 28868765 No abstract available.
Vertical transmission of Citrobacter freundii.
Malpas TJ, Munoz JJ, Muscat I. Malpas TJ, et al. Arch Dis Child Fetal Neonatal Ed. 2004 May;89(3):F280-1. doi: 10.1136/adc.2003.043398. Arch Dis Child Fetal Neonatal Ed. 2004. PMID: 15102740 Free PMC article. No abstract available.
Intrathoracic gastric volvulus mimicking pyloric stenosis.
Munoz JJ, Mansul AJ, Malpas TJ, Steinbrecher HA. Munoz JJ, et al. Among authors: malpas tj. J Paediatr Child Health. 2003 Mar;39(2):149-51. doi: 10.1046/j.1440-1754.2003.00094.x. J Paediatr Child Health. 2003. PMID: 12603808
18 results