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Page 1
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: wakeling e. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
Central osteosclerosis with trichothiodystrophy.
Wakeling EL, Cruwys M, Suri M, Brady AF, Aylett SE, Hall C. Wakeling EL, et al. Pediatr Radiol. 2004 Jul;34(7):541-6. doi: 10.1007/s00247-004-1207-7. Epub 2004 May 18. Pediatr Radiol. 2004. PMID: 15148554
Mild case of Curry-Jones syndrome.
Thomas ER, Wakeling EL, Goodman FR, Dickinson JC, Hall CM, Brady AF. Thomas ER, et al. Clin Dysmorphol. 2006 Apr;15(2):115-7. doi: 10.1097/01.mcd.0000194406.85052.de. Clin Dysmorphol. 2006. PMID: 16531740
X-linked inheritance of Dandy-Walker variant.
Wakeling EL, Jolly M, Fisk NM, Gannon C, Holder SE. Wakeling EL, et al. Clin Dysmorphol. 2002 Jan;11(1):15-8. doi: 10.1097/00019605-200201000-00003. Clin Dysmorphol. 2002. PMID: 11822699
Caudal appendage in focal dermal hypoplasia (Goltz syndrome).
Petrides G, Bhat M, Holder S, Wakeling E. Petrides G, et al. Among authors: wakeling e. Clin Dysmorphol. 2008 Apr;17(2):129-131. doi: 10.1097/MCD.0b013e32825ea65c. Clin Dysmorphol. 2008. PMID: 18388786 No abstract available.
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Wakeling EL, Mathew V, Madden J, Davies JH, Temple IK. Turner CL, et al. Among authors: wakeling el. Eur J Hum Genet. 2010 Jun;18(6):648-55. doi: 10.1038/ejhg.2009.246. Epub 2010 Jan 27. Eur J Hum Genet. 2010. PMID: 20104244 Free PMC article.
Silver-Russell syndrome.
Wakeling EL. Wakeling EL. Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24. Arch Dis Child. 2011. PMID: 21349887 Review.
Lung disease associated with the IVS8 5T allele of the CFTR gene.
Noone PG, Pue CA, Zhou Z, Friedman KJ, Wakeling EL, Ganeshananthan M, Simon RH, Silverman LM, Knowles MR. Noone PG, et al. Among authors: wakeling el. Am J Respir Crit Care Med. 2000 Nov;162(5):1919-24. doi: 10.1164/ajrccm.162.5.2003160. Am J Respir Crit Care Med. 2000. PMID: 11069835
159 results