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Page 1
Down syndrome in diverse populations.
Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Kruszka P, et al. Among authors: patil sj. Am J Med Genet A. 2017 Jan;173(1):42-53. doi: 10.1002/ajmg.a.38043. Am J Med Genet A. 2017. PMID: 27991738
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
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.
Patil SJ, Rai GK, Bhat V, Ramesh VA, Nagarajaram HA, Matalia J, Phadke SR. Patil SJ, et al. Am J Med Genet A. 2014 Nov;164A(11):2857-62. doi: 10.1002/ajmg.a.36702. Epub 2014 Aug 5. Am J Med Genet A. 2014. PMID: 25099528
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: patil sj. Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25252036
Familial 7q11.23 duplication with variable phenotype.
Patil SJ, Salian S, Bhat V, Girisha KM, Shrivastava Y, Vs K, Sapare A. Patil SJ, et al. Am J Med Genet A. 2015 Nov;167A(11):2727-30. doi: 10.1002/ajmg.a.37226. Epub 2015 Jun 24. Am J Med Genet A. 2015. PMID: 26109321
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
22q11.2 deletion syndrome in diverse populations.
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. Kruszka P, et al. Among authors: patil sj. Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199. Am J Med Genet A. 2017. PMID: 28328118 Free PMC article.
Noonan syndrome in diverse populations.
Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Kruszka P, et al. Among authors: patil sj. Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28748642 Free PMC article.
110 results