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Page 1
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: nandini a. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.
Mason JA, Aung HT, Nandini A, Woods RG, Fairbairn DJ, Rowell JA, Young D, Susman RD, Brown SA, Hyland VJ, Robertson JD. Mason JA, et al. Among authors: nandini a. Mol Genet Genomic Med. 2018 May;6(3):357-369. doi: 10.1002/mgg3.378. Epub 2018 Feb 28. Mol Genet Genomic Med. 2018. PMID: 29490426 Free PMC article.
Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning.
Gabbett MT, Laporte J, Sekar R, Nandini A, McGrath P, Sapkota Y, Jiang P, Zhang H, Burgess T, Montgomery GW, Chiu R, Fisk NM. Gabbett MT, et al. Among authors: nandini a. N Engl J Med. 2019 Feb 28;380(9):842-849. doi: 10.1056/NEJMoa1701313. N Engl J Med. 2019. PMID: 30811910
Efficacy and safety of ligelizumab in adults and adolescents with chronic spontaneous urticaria: results of two phase 3 randomised controlled trials.
Maurer M, Ensina LF, Gimenez-Arnau AM, Sussman G, Hide M, Saini S, Grattan C, Fomina D, Rigopoulos D, Berard F, Canonica GW, Rockmann H, Irani C, Szepietowski JC, Leflein J, Bernstein JA, Peter JG, Kulthanan K, Godse K, Ardusso L, Ukhanova O, Staubach P, Sinclair R, Gogate S, Thomsen SF, Tanus T, Ye YM, Burciu A, Barve A, Modi D, Scosyrev E, Hua E, Letzelter K, Varanasi V, Patekar M, Severin T; PEARL-1 and PEARL-2 trial investigators. Maurer M, et al. Lancet. 2024 Jan 13;403(10422):147-159. doi: 10.1016/S0140-6736(23)01684-7. Epub 2023 Nov 23. Lancet. 2024. PMID: 38008109 Clinical Trial.
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