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Smpokou, Patroula

TitleAssistant Professor
InstitutionChildrens National Medical Center
DepartmentGenetics and Metabolism
Address111 Michigan Ave NW
Washington DC 20010
PhoneNA
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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. Salem B, Hofherr S, Turner J, Doros L, Smpokou P. Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication. J Pediatr Hematol Oncol. 2016 Nov; 38(8):e278-e282. PMID: 27258033.
      View in: PubMed
    2. Smpokou P, Lanpher BC, Rosenbaum KN. Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate. Adv Neonatal Care. 2015 Aug; 15(4):248-52. PMID: 26225593.
      View in: PubMed
    3. Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. Am J Med Genet A. 2015 Sep; 167A(9):2085-97. PMID: 25914166; PMCID: PMC4830354.
    4. Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Malignancy in Noonan syndrome and related disorders. Clin Genet. 2015 Dec; 88(6):516-22. PMID: 25683281.
      View in: PubMed
    5. Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U. Menkes disease in affected females: the clinical disease spectrum. Am J Med Genet A. 2015 Feb; 167A(2):417-20. PMID: 25428120; PMCID: PMC4351723.
    6. Smpokou P, Fox VL, Tan WH. PTEN hamartoma tumour syndrome: early tumour development in children. Arch Dis Child. 2015 Jan; 100(1):34-7. PMID: 25114091.
      View in: PubMed
    7. Fraser JL, Vanderver A, Yang S, Chang T, Cramp L, Vezina G, Lichter-Konecki U, Cusmano-Ozog KP, Smpokou P, Chapman KA, Zand DJ. Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies. Mol Genet Metab Rep. 2014; 1:66-70. PMID: 27896076.
      View in: PubMed
    8. Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. Am J Med Genet A. 2012 Dec; 158A(12):3106-11. PMID: 23165751.
      View in: PubMed
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