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Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Patil SJ, Soni JP, Muranjan M, Kapoor S, Dhingra B, Bhat BV, Bajaj S, Banerjee A, Mamadapur M, Hariharan SV, Kamath N, Shenoy RD, Suri D, Shukla A, Dalal A, Phadke SR, Nishimura G, Mortier G, Shah H, Girisha KM. Jacob P, et al. Among authors: nishimura g. Eur J Hum Genet. 2024 Dec 20. doi: 10.1038/s41431-024-01776-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39706863
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.
Gregersen PA, Hammarsjö A, Graversen L, Brix N, Lindelöf H, Jensen UB, Farholt S, Rubak S, Bjerre J, Piticchio SG, Terkelsen T, Nishimura G, Hellfritzsch MB, Grigelioniene G. Gregersen PA, et al. Among authors: nishimura g. Clin Genet. 2025 Jan;107(1):78-82. doi: 10.1111/cge.14616. Epub 2024 Sep 6. Clin Genet. 2025. PMID: 39239663 Free PMC article.
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Wang Z, Kometani M, Zeitlin L, Wilnai Y, Kinoshita A, Yoshiura KI, Ninomiya H, Imamura T, Guo L, Xue J, Yan L, Ohashi H, Pretemer Y, Kawai S, Shiina M, Ogata K, Cohn DH, Matsumoto N, Nishimura G, Toguchida J, Miyake N, Ikegawa S. Wang Z, et al. Among authors: nishimura g. J Hum Genet. 2024 Nov;69(11):599-605. doi: 10.1038/s10038-024-01274-1. Epub 2024 Jul 16. J Hum Genet. 2024. PMID: 39014191
719 results