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DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. Sukalo M, et al. Among authors: wakeling e. Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830. Epub 2015 Aug 7. Hum Mutat. 2015. PMID: 26457590
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
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.
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
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
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. Van Houdt JK, et al. Among authors: wakeling e. Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105. Nat Genet. 2012. PMID: 22366787
159 results