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G. Shashidhar Pai

TitleDirector, Division of Genetics
InstitutionMedical University of South Carolina
DepartmentPediatric Genetics
AddressP.O. Box MSC 561
RT 394A
135 Rutledge Ave.
Phone843-876-1516
Fax843-876-1518
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Ellis C, Eason C, Snyder A, Siegel M, Pai GS, Ryan E, Pfendner EG, Lee LW. Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy. JAAD Case Rep. 2021 May; 11:63-68. PMID: 33937469.
      View in: PubMed
    2. Ellis C, Pai GS, Wine Lee L. Atypical aplasia cutis in association with Xia Gibbs syndrome. Pediatr Dermatol. 2021 Mar; 38(2):533-535. PMID: 33464633.
      View in: PubMed
    3. Shah SK, Kabra SK, Gupta N, Pai G, Lodha R. Vitamin D Deficiency and Parathyroid Response in Critically-ill Children: Association with Illness Severity and Clinical Outcomes. Indian Pediatr. 2016 Jun 08; 53(6):479-84. PMID: 27376601.
      View in: PubMed
    4. Pai G, Jain V. Massive levothyroxine ingestion. Indian Pediatr. 2014 Oct; 51(10):840-1. PMID: 25362025.
      View in: PubMed
    5. Poon JK, LaRosa AC, Pai GS. Developmental delay timely identification and assessment. Indian Pediatr. 2010 May; 47(5):415-22. PMID: 20519787.
      View in: PubMed
    6. Christiansen LR, Lage JM, Wolff DJ, Pai GS, Harley RA. Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and mineralization of extraplacental membranes. Pediatr Dev Pathol. 2005 Jan-Feb; 8(1):115-23. PMID: 15803218.
      View in: PubMed
    7. Leonardi ML, Pai GS, Wilkes B, Lebel RR. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genet. 2001 Aug 15; 102(3):237-42. PMID: 11484200.
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    8. Pai GS, Gadewar SB. Diagnostic approach to children with birth defects. Indian J Pediatr. 2000 Nov; 67(11):819-23. PMID: 11216382.
      View in: PubMed
    9. Pai GS, Khan M, Barbosa E, Key LL, Craver JR, Curé JK, Betros R, Singh I. Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients. Mol Genet Metab. 2000 Apr; 69(4):312-22. PMID: 10870849.
      View in: PubMed
    10. Southgate WM, Wagner CL, Shields SM, Cantú ES, Pai GS. Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis. J Perinatol. 1998 Jan-Feb; 18(1):78-80. PMID: 9527951.
      View in: PubMed
    11. Kulling D, Green J, Pai GS, Baron PL, Baker SS, Lewin D, Hoffman BJ. Familial adenomatous polyposis registry in South Carolina. J S C Med Assoc. 1997 Nov; 93(11):405-9. PMID: 9394082.
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    12. Greer MK, Brown FR, Pai GS, Choudry SH, Klein AJ. Cognitive, adaptive, and behavioral characteristics of Williams syndrome. Am J Med Genet. 1997 Sep 19; 74(5):521-5. PMID: 9342204.
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    13. Pai GS, Hane B, Joseph M, Nelson R, Hammond LS, Arena JF, Lubs HA, Stevenson RE, Schwartz CE. A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. J Med Genet. 1997 Jul; 34(7):529-34. PMID: 9222958.
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    14. Joseph M, Cantú ES, Pai GS, Willi SM, Papenhausen PR, Weiss L. Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation. J Med Genet. 1996 Nov; 33(11):906-11. PMID: 8950669.
      View in: PubMed
    15. Buebel MS, Salinas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas A. A new Seckel-like syndrome of primordial dwarfism. Am J Med Genet. 1996 Aug 23; 64(3):447-52. PMID: 8862620.
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    16. Cantú ES, Eicher DJ, Pai GS, Donahue CJ, Harley RA. Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet. 1996 Apr 24; 62(4):330-5. PMID: 8723059.
      View in: PubMed
    17. Joseph M, Pai GS, Holden KR, Herman G. X-linked myotubular myopathy: clinical observations in ten additional cases. Am J Med Genet. 1995 Nov 06; 59(2):168-73. PMID: 8588581.
      View in: PubMed
    18. Cantú ES, Jacobs DF, Pai GS. An atypical Turner syndrome patient with ring X chromosome mosaicism. Ann Clin Lab Sci. 1995 Jan-Feb; 25(1):60-5. PMID: 7762970.
      View in: PubMed
    19. Batista DA, Pai GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet. 1994 Nov 15; 53(3):255-63. PMID: 7856662.
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    20. Parsons JL, Sahn EE, Holden KR, Pai GS. Neurologic disease in a child with hepatoerythropoietic porphyria. Pediatr Dermatol. 1994 Sep; 11(3):216-21. PMID: 7971555.
      View in: PubMed
    21. Dyer DS, Wilson ME, Small KW, Pai GS. Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome. J Pediatr Ophthalmol Strabismus. 1994 Jul-Aug; 31(4):272-4. PMID: 7807310.
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    22. Pai GS. Diagnostic approach to a child with mental retardation. Indian Pediatr. 1994 Jul; 31(7):879-90. PMID: 7890364.
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    23. Rodgers BL, Vanner LV, Pai GS, Sens MA. Walker-Warburg syndrome: report of three affected sibs. Am J Med Genet. 1994 Jan 15; 49(2):198-201. PMID: 8116667.
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    24. Sahn EE, Cook WJ, Gross RH, Garen PD, Pai GS. Musculoaponeurotic fibromatosis (extraabdominal desmoid tumor) in a child with idiopathic multicentric osteolysis. Pediatr Dermatol. 1993 Mar; 10(1):49-53. PMID: 8493169.
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    25. Cantú ES, Khan TA, Pai GS. Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with alpha-satellite DNA probes: detection of a centromeric DNA break? Am J Med Genet. 1992 Oct 01; 44(3):340-4. PMID: 1488982.
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    26. McCall S, Ramzy MI, Curé JK, Pai GS. Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. Am J Med Genet. 1992 Jul 01; 43(4):662-8. PMID: 1621755.
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    27. Ning Y, Yongshan Y, Pai GS, Gross AJ. Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families. Cancer Genet Cytogenet. 1992 May; 60(1):31-4. PMID: 1375530.
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    28. Salinas CF, Pai GS, Vera CL, Milutinovic J, Hagerty R, Cooper JD, Cagna DR. Variability of expression of the orofaciodigital syndrome type I in black females: six cases. Am J Med Genet. 1991 Mar 15; 38(4):574-82. PMID: 2063902.
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    29. Sahn EE, Garen PD, Pai GS, Levkoff AH, Hagerty RC, Maize JC. Multiple rhabdomyomatous mesenchymal hamartomas of skin. Am J Dermatopathol. 1990 Oct; 12(5):485-91. PMID: 2244664.
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    30. DeBauche DM, Pai GS, Stanley WS. Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. Am J Hum Genet. 1990 Feb; 46(2):350-7. PMID: 2301400.
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    31. Pai GS, Yan Y, DeBauche DM, Stanley WS, Paul SR. Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts. Cytogenet Cell Genet. 1989; 52(3-4):186-9. PMID: 2483541.
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    32. Pai GS, Macpherson RI. Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. Am J Med Genet. 1988 Apr; 29(4):929-36. PMID: 3041835.
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