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Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Minatogawa M, et al. Among authors: kaur a. J Med Genet. 2022 Sep;59(9):865-877. doi: 10.1136/jmedgenet-2020-107623. Epub 2021 Nov 23. J Med Genet. 2022. PMID: 34815299 Free PMC article.
Wolf-Hirschhorn syndrome: A case series from India.
Chaudhry C, Kaur A, Panigrahi I, Kaur A. Chaudhry C, et al. Among authors: kaur a. Am J Med Genet A. 2020 Dec;182(12):3048-3051. doi: 10.1002/ajmg.a.61856. Epub 2020 Sep 10. Am J Med Genet A. 2020. PMID: 32914558
Ayme gripp syndrome in an Indian patient.
Chaudhry C, Kaur P, Srivastava P, Kaur A. Chaudhry C, et al. Among authors: kaur a, kaur p. Am J Med Genet A. 2021 Apr;185(4):1312-1316. doi: 10.1002/ajmg.a.62053. Epub 2021 Jan 1. Am J Med Genet A. 2021. PMID: 33528093
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: kaur a, kaur p. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Clinical Profile of Indian Children with Down Syndrome.
Panigrahi I, Bhatt Y, Malik S, Kaur P, Kaur A. Panigrahi I, et al. Among authors: kaur a, kaur p. J Pediatr Genet. 2021 Jul 26;12(1):53-57. doi: 10.1055/s-0041-1732475. eCollection 2023 Mar. J Pediatr Genet. 2021. PMID: 36684542 Free PMC article.
Editorial: Ehlers-Danlos syndrome: from bedside to bench.
Kosho T, Hayashi S, Matsumoto KI, Syx D, Kaur A. Kosho T, et al. Among authors: kaur a. Front Genet. 2024 Apr 26;15:1399386. doi: 10.3389/fgene.2024.1399386. eCollection 2024. Front Genet. 2024. PMID: 38737124 Free PMC article. No abstract available.
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. Somashekar PH, et al. Among authors: kaur a. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532
2,386 results