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DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. Lavillaureix A, et al. Among authors: patil sj. Genet Med. 2024 Jul;26(7):101126. doi: 10.1016/j.gim.2024.101126. Epub 2024 Mar 24. Genet Med. 2024. PMID: 38529886 Free article.
Confirmation of the Zechi-Ceide syndrome.
Patil SJ, Bhat V, Dalal A, Santosh JS. Patil SJ, et al. Am J Med Genet A. 2012 Jun;158A(6):1467-71. doi: 10.1002/ajmg.a.35360. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585531
Prenatal diagnosis in India is not limited to sex selection.
Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Dalal AB, et al. Among authors: patil sj. Genet Med. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149. Genet Med. 2015. PMID: 25356971 Free article. No abstract available.
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Ranganath P, et al. Among authors: patil sj. Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24. Am J Med Genet A. 2016. PMID: 27338287
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
Saini N, Venkatapuram VS, Vineeth VS, Kulkarni A, Tandon A, Koppolu G, Patil SJ, Dalal A, Aggarwal S. Saini N, et al. Among authors: patil sj. Prenat Diagn. 2022 Jun;42(7):911-926. doi: 10.1002/pd.6172. Epub 2022 Jun 1. Prenat Diagn. 2022. PMID: 35587316
109 results