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Page 1
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: wellesley d. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Epidemiology of aplasia cutis congenita: A population-based study in Europe.
Coi A, Barisic I, Garne E, Pierini A, Addor MC, Aizpurua Atxega A, Ballardini E, Braz P, Broughan JM, Cavero-Carbonell C, de Walle HEK, Draper ES, Gatt M, Häusler M, Kinsner-Ovaskainen A, Kurinczuk JJ, Lelong N, Luyt K, Mezzasalma L, Mullaney C, Nelen V, Odak L, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiśniewska K, Yevtushok L, Santoro M. Coi A, et al. Among authors: wellesley d. J Eur Acad Dermatol Venereol. 2023 Mar;37(3):581-589. doi: 10.1111/jdv.18690. Epub 2022 Nov 11. J Eur Acad Dermatol Venereol. 2023. PMID: 36300660 Free article.
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.
Morris JK, Wellesley D, Limb E, Bergman JEH, Kinsner-Ovaskainen A, Addor MC, Broughan JM, Cavero-Carbonell C, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Barisic I, Klungsoyr K, Lelong N, Materna-Kiryluk A, Neville A, Nelen V, O'Mahony MT, Perthus I, Pierini A, Rankin J, Rissmann A, Rouget F, Sayers G, Stevens S, Tucker D, Garne E. Morris JK, et al. Among authors: wellesley d. Birth Defects Res. 2022 Dec 1;114(20):1417-1426. doi: 10.1002/bdr2.2122. Epub 2022 Nov 11. Birth Defects Res. 2022. PMID: 36369770 Free PMC article.
Causes of death in children with congenital anomalies up to age 10 in eight European countries.
Rissmann A, Tan J, Glinianaia SV, Rankin J, Pierini A, Santoro M, Coi A, Garne E, Loane M, Given J, Reid A, Aizpurua A, Akhmedzhanova D, Ballardini E, Barisic I, Cavero-Carbonell C, de Walle HEK, Gatt M, Gissler M, Heino A, Jordan S, Urhoj SK, Klungsøyr K, Lutke R, Mokoroa O, Neville AJ, Thayer DS, Wellesley DG, Yevtushok L, Zurriaga O, Morris J. Rissmann A, et al. Among authors: wellesley dg. BMJ Paediatr Open. 2023 Jun;7(1):e001617. doi: 10.1136/bmjpo-2022-001617. BMJ Paediatr Open. 2023. PMID: 37353235 Free PMC article.
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
Barisic I, Odak L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Arriola L, Bergman J, Bianca S, Doray B, Khoshnood B, Klungsoyr K, McDonnell B, Pierini A, Rankin J, Rissmann A, Rounding C, Queisser-Luft A, Scarano G, Tucker D. Barisic I, et al. Among authors: wellesley d. Eur J Hum Genet. 2014 Aug;22(8):1026-33. doi: 10.1038/ejhg.2013.287. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398798 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bouasker S, et al. Among authors: wellesley d. J Med Genet. 2023 Mar;60(3):294-300. doi: 10.1136/jmedgenet-2022-108475. Epub 2022 Jul 5. J Med Genet. 2023. PMID: 35790350
154 results