Singh, Kathryn Elaine

Title(s)Associate Clinical Professor, Pediatrics
Phone(714) 456-2340
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 Jan 24. PMID: 30676690.
      View in: PubMed
    2. Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE. Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations. Am J Med Genet A. 2017 Jun; 173(6):1663-1667. PMID: 28256045.
      View in: PubMed
    3. Singh KE, Taylor TH, Pan CG, Stamos MJ, Zell JA. Colorectal Cancer Incidence Among Young Adults in California. J Adolesc Young Adult Oncol. 2014 Dec 01; 3(4):176-184. PMID: 25538862.
      View in: PubMed
    4. Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE. Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2. Am J Med Genet A. 2014 Jul; 164A(7):1761-4. PMID: 24677774.
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    5. Williams SN, Nussbaum E, Chin TW, Do PC, Singh KE, Randhawa I. Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time. Pediatr Pulmonol. 2014 Mar; 49(3):E103-8. PMID: 24535988.
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    6. Kimonis VE, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Genet Med. 2013 Jan; 15(1):79-83. PMID: 22918513.
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    7. Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE. An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. Am J Med Genet A. 2011 Apr; 155A(4):748-56. PMID: 21594997.
      View in: PubMed
    8. Brekman A, Singh KE, Polotskaia A, Kundu N, Bargonetti J. A p53-independent role of Mdm2 in estrogen-mediated activation of breast cancer cell proliferation. Breast Cancer Res. 2011 Jan 11; 13(1):R3. PMID: 21223569; PMCID: PMC3109566.