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Items: 1 to 50 of 52

1.

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.

PMID:
30526868
2.

Lymphorrhea: An Unusual Complication of Jugular Venous Catheterization for Hemodialysis.

Bajpai D, Jamale TE, Hase NK, Thakare SB, Deshpande RB, Patil SJ.

Indian J Nephrol. 2018 Jul-Aug;28(4):307-309. doi: 10.4103/ijn.IJN_389_17.

3.

Crusted Scabies in Systemic Sclerosis with Plasma Cell Dyscrasia.

Nikam BP, Patil SJ, Jamale V, Kale M.

Indian Dermatol Online J. 2018 May-Jun;9(3):197-198. doi: 10.4103/idoj.IDOJ_212_17. No abstract available.

4.

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79.

Das Bhowmik A, Patil SJ, Deshpande DV, Bhat V, Dalal A.

J Hum Genet. 2018 Aug;63(8):927-933. doi: 10.1038/s10038-018-0463-6. Epub 2018 May 7.

PMID:
29735986
5.

Williams-Beuren syndrome in diverse populations.

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

PMID:
29681090
6.

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

Patil SJ, Das Bhowmik A, Bhat V, Satidevi Vineeth V, Vasudevamurthy R, Dalal A.

Am J Med Genet A. 2018 May;176(5):1200-1206. doi: 10.1002/ajmg.a.38659.

PMID:
29681087
7.

Effect of peer support interventions on cardiovascular disease risk factors in adults with diabetes: a systematic review and meta-analysis.

Patil SJ, Ruppar T, Koopman RJ, Lindbloom EJ, Elliott SG, Mehr DR, Conn VS.

BMC Public Health. 2018 Mar 23;18(1):398. doi: 10.1186/s12889-018-5326-8.

8.

Keratin 5/14‑mediated cell differentiation and transformation are regulated by TAp63 and Notch‑1 in oral squamous cell carcinoma‑derived cells.

Srivastava SS, Alam H, Patil SJ, Shrinivasan R, Raikundalia S, Chaudhari PR, Vaidya MM.

Oncol Rep. 2018 May;39(5):2393-2401. doi: 10.3892/or.2018.6298. Epub 2018 Mar 6.

PMID:
29512781
9.

Dynamic Electronic Health Record Note Prototype: Seeing More by Showing Less.

Belden JL, Koopman RJ, Patil SJ, Lowrance NJ, Petroski GF, Smith JB.

J Am Board Fam Med. 2017 Nov-Dec;30(6):691-700. doi: 10.3122/jabfm.2017.06.170028.

10.

Cover Image, Volume 173A, Number 9, September 2017.

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.

Am J Med Genet A. 2017 Sep;173(9):i. doi: 10.1002/ajmg.a.38408.

11.

Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

Patil SJ, Somashekar PH, Shukla A, Siddaiah S, Bhat V, Girisha KM, Rao PN.

J Pediatr Genet. 2017 Sep;6(3):198-204. doi: 10.1055/s-0037-1602386. Epub 2017 Apr 24.

12.

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.

Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27.

13.

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.

Narayanan DL, Pandey H, Moirangthem A, Mandal K, Gupta R, Puri RD, Patil SJ, Phadke SR.

Indian Pediatr. 2017 Aug 15;54(8):638-643. Epub 2017 Jun 4.

14.

Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis.

Ramakrishna SH, Patil SJ, Jagadish AA, Sapare AK, Sagar H, Kannan S.

J Pediatr Endocrinol Metab. 2017 May 24;30(6):703-706. doi: 10.1515/jpem-2017-0078.

PMID:
28599390
15.

Methyl-CpG binding domain protein 1 regulates localization and activity of Tet1 in a CXXC3 domain-dependent manner.

Zhang P, Rausch C, Hastert FD, Boneva B, Filatova A, Patil SJ, Nuber UA, Gao Y, Zhao X, Cardoso MC.

Nucleic Acids Res. 2017 Jul 7;45(12):7118-7136. doi: 10.1093/nar/gkx281.

16.

Peer Support Interventions for Adults With Diabetes: A Meta-Analysis of Hemoglobin A1c Outcomes.

Patil SJ, Ruppar T, Koopman RJ, Lindbloom EJ, Elliott SG, Mehr DR, Conn VS.

Ann Fam Med. 2016 Nov;14(6):540-551. doi: 10.1370/afm.1982. Review.

17.

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.

Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199.

18.

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.

Am J Med Genet A. 2017 Jan;173(1):42-53. doi: 10.1002/ajmg.a.38043.

PMID:
27991738
19.

Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up.

Kanagasabai K, Bhat V, Pramod GK, Patil SJ, Kiranmayi S.

BJR Case Rep. 2016 Dec 8;3(2):20150356. doi: 10.1259/bjrcr.20150356. eCollection 2017.

20.

Chemical synthesis and supercapacitive properties of lanthanum telluride thin film.

Patil SJ, Lokhande AC, Lee DW, Kim JH, Lokhande CD.

J Colloid Interface Sci. 2017 Mar 15;490:147-153. doi: 10.1016/j.jcis.2016.11.020. Epub 2016 Nov 9.

PMID:
27898333
21.

Biomechanical Characterization of Cardiomyocyte Using PDMS Pillar with Microgrooves.

Oyunbaatar NE, Lee DH, Patil SJ, Kim ES, Lee DW.

Sensors (Basel). 2016 Aug 9;16(8). pii: E1258. doi: 10.3390/s16081258.

22.

Comparative Evaluation of Ciprofloxacin Levels in GCF and Plasma of Chronic Periodontitis Patients: Quasi Experimental Study.

Alamanda M, Denthumdas SK, Wadgave U, Pharne PM, Patil SJ, Kondreddi S, Deshpande P, Koppikar RS.

J Clin Diagn Res. 2016 Jun;10(6):ZC47-50. doi: 10.7860/JCDR/2016/18446.7987. Epub 2016 Jun 1.

23.

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.

Am J Med Genet A. 2016 Oct;170(10):2719-30. doi: 10.1002/ajmg.a.37817. Epub 2016 Jun 24.

PMID:
27338287
24.

A Wireless Pressure Sensor Integrated with a Biodegradable Polymer Stent for Biomedical Applications.

Park J, Kim JK, Patil SJ, Park JK, Park S, Lee DW.

Sensors (Basel). 2016 Jun 2;16(6). pii: E809. doi: 10.3390/s16060809.

25.

Chemically prepared La2Se3 nanocubes thin film for supercapacitor application.

Patil SJ, Lokhande VC, Chodankar NR, Lokhande CD.

J Colloid Interface Sci. 2016 May 1;469:318-324. doi: 10.1016/j.jcis.2016.02.003. Epub 2016 Feb 1.

PMID:
26901380
26.

Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation.

Mandal K, Agarwal M, Boggula VR, Patil SJ, Phadke SR.

Clin Dysmorphol. 2016 Apr;25(2):63-7. doi: 10.1097/MCD.0000000000000118. No abstract available.

PMID:
26866301
27.

Familial 7q11.23 duplication with variable phenotype.

Patil SJ, Salian S, Bhat V, Girisha KM, Shrivastava Y, Vs K, Sapare A.

Am J Med Genet A. 2015 Nov;167A(11):2727-30. doi: 10.1002/ajmg.a.37226. Epub 2015 Jun 24.

PMID:
26109321
28.

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.

Shukla A, Mandal K, Patil SJ, Kishore Y, Phadke SR, Girisha KM.

Am J Med Genet A. 2015 Aug;167A(8):1927-31. doi: 10.1002/ajmg.a.37116. Epub 2015 Apr 21.

PMID:
25898978
29.

Assessment of the changes in the stress-related salivary cortisol levels to the various dental procedures in children.

Patil SJ, Shah PP, Patil JA, Shigli A, Patil AT, Tamagond SB.

J Indian Soc Pedod Prev Dent. 2015 Apr-Jun;33(2):94-9. doi: 10.4103/0970-4388.155116.

30.

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.

Genet Med. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149. No abstract available.

PMID:
25356971
31.

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.

Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22.

PMID:
25252036
32.

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

Patil SJ, Rai GK, Bhat V, Ramesh VA, Nagarajaram HA, Matalia J, Phadke SR.

Am J Med Genet A. 2014 Nov;164A(11):2857-62. doi: 10.1002/ajmg.a.36702. Epub 2014 Aug 5.

PMID:
25099528
33.

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Lohan S, Spielmann M, Doelken SC, Flöttmann R, Muhammad F, Baig SM, Wajid M, Hülsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E.

Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17.

PMID:
24456159
34.

Biology of Chiloloba orientalis.

Kumbhar SM, Mamlavya AB, Patil SJ, Bhawane GP.

J Insect Sci. 2012;12:127. doi: 10.1673/031.012.12701.

35.

Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India.

Patil SJ, Madhusudhan BG, Shah S, Suresh PV.

Am J Med Genet A. 2012 Jul;158A(7):1729-34. doi: 10.1002/ajmg.a.35443. Epub 2012 May 24.

PMID:
22628065
36.

Confirmation of the Zechi-Ceide syndrome.

Patil SJ, Bhat V, Dalal A, Santosh JS.

Am J Med Genet A. 2012 Jun;158A(6):1467-71. doi: 10.1002/ajmg.a.35360. Epub 2012 May 14.

PMID:
22585531
37.

Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling.

Patil SJ, Ponnala R, Shah S, Dalal A.

Indian J Pediatr. 2012 Jun;79(6):806-9. doi: 10.1007/s12098-011-0567-x.

PMID:
21975655
38.

Synthesis, in vitro and in vivo antifungal activity of 5-phenylthio-2,4-bisbenzyloxypyrimidine: a novel nucleobase.

Amareshwar V, Patil SJ, Goudgaon NM.

Indian J Pharm Sci. 2010 Nov;72(6):778-81. doi: 10.4103/0250-474X.84593.

39.

PHACE/S syndrome: a syndromic infantile segmental hemangioma.

Patil SJ, Moray AA, Kiran VS, Battu RR.

Indian J Pediatr. 2010 Aug;77(8):911-3. doi: 10.1007/s12098-010-0136-8. Epub 2010 Oct 17.

PMID:
20953914
40.

Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.

Patil SJ, Banerjee M, Phadke SR, Mittal B.

Indian J Pediatr. 2009 Feb;76(2):147-9. doi: 10.1007/s12098-009-0044-y. Epub 2009 Mar 28.

PMID:
19330302
41.

Spondylocarpotarsal synostosis: a rare case of vertebral segmentation defect.

Patil SJ, Bhat M, Rao S, Krishnan RS.

Indian J Pediatr. 2009 Apr;76(4):417-9. doi: 10.1007/s12098-009-0017-1. Epub 2009 Feb 10.

PMID:
19205644
42.

Scavenging of Ni(II) metal ions by adsorption on PAC and babhul bark.

Patil SJ, Bhole AG, Natarajan GS.

J Environ Sci Eng. 2006 Jul;48(3):203-8.

PMID:
17915785
43.

Spondylothoracic dysplasia: prenatal diagnosis and the problems of nosologic overlap.

Phadke SR, Patil SJ, Kumari N, Krishnani N.

Am J Med Genet A. 2007 Apr 15;143A(8):899-902. No abstract available.

PMID:
17366581
44.

Is typing for HLA class II alleles beneficial in Indian children with idiopathic nephrotic syndrome?

Gulati S, Tripathi P, Patil SJ, Sharma RK, Agarwal S.

Pediatr Nephrol. 2007 Apr;22(4):528-32. Epub 2006 Dec 16.

PMID:
17180363
45.

Pericentric inversion causing duplication and deletion of chromosome region 13q22 --> qter in the offspring.

Patil SJ, Phadke SR.

Am J Med Genet A. 2007 Jan 1;143A(1):82-4. No abstract available.

PMID:
17163534
46.

Urorectal septum malformation sequence: ultrasound correlation with fetal examination.

Patil SJ, Phadke SR.

Indian J Pediatr. 2006 Apr;73(4):287-93.

PMID:
16816488
47.

Delleman syndrome.

Patil SJ, Phadke SR.

Indian Pediatr. 2006 Feb;43(2):173-4. No abstract available.

48.

Angiotensin converting enzyme gene polymorphism in Indian children with steroid sensitive nephrotic syndrome.

Patil SJ, Gulati S, Khan F, Tripathi M, Ahmed M, Agrawal S.

Indian J Med Sci. 2005 Oct;59(10):431-5.

PMID:
16272677
49.

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.

Kesari A, Misra UK, Kalita J, Mishra VN, Pradhan S, Patil SJ, Phadke SR, Mittal B.

J Neurol. 2005 Jun;252(6):667-71. Epub 2005 Mar 18.

PMID:
15772743
50.

Genetic counseling: the impact in Indian milieu.

Phadke SR, Pandey A, Puri RD, Patil SJ.

Indian J Pediatr. 2004 Dec;71(12):1079-82.

PMID:
15630315

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