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Journal Abstract Search

145 related items for PubMed ID: 27593400

  • 1. Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.
    Marquardt L, Lacour M, Hoernes M, Opitz L, Lecca R, Volkmer B, Reichenbach J, Hohl D, Ansari M, Ozsahin H, Güngör T, Pachlopnik Schmid J.
    J Eur Acad Dermatol Venereol; 2017 Mar; 31(3):e147-e148. PubMed ID: 27593400
    [No Abstract] [Full Text] [Related]

  • 2. A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.
    Liao CY, Yu HW, Cheng CN, Chen JS, Lin CW, Chen PC, Shieh CC.
    J Microbiol Immunol Infect; 2020 Feb; 53(1):99-105. PubMed ID: 29551298
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  • 4. A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.
    Yan L, He Y, Zhang Y, Liu Y, Xu L, Han C, Zhao Y, Li H.
    BMC Med Genomics; 2023 Dec 11; 16(1):323. PubMed ID: 38082310
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  • 5. Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.
    Patel DR, Yu H, Wong LC, Lupski JR, Seeborg FO, Rider NL, Martinez CA, Orange JS, Hanson C.
    J Allergy Clin Immunol Pract; 2017 Dec 11; 5(5):1442-1444. PubMed ID: 28438538
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  • 6. Exfoliative erythroderma, recurrent infections, generalized lymphadenopathy and hepatosplenomegaly in a newborn: Omenn syndrome.
    Tatli MM, Sarraoglu S, Shermatov K, Gurel MS, Karadag A.
    Australas J Dermatol; 2007 May 11; 48(2):133-4. PubMed ID: 17535207
    [No Abstract] [Full Text] [Related]

  • 7. Whole-exome sequencing of T- B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.
    El Hawary R, Meshaal S, Mauracher AA, Opitz L, Abd Elaziz D, Lotfy S, Eldash A, Boutros J, Galal N, Pachlopnik Schmid J, Elmarsafy A.
    Clin Exp Immunol; 2021 Mar 11; 203(3):448-457. PubMed ID: 33040328
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  • 8. MHC II deficient infant identified by newborn screening program for SCID.
    Marcus N, Stauber T, Lev A, Simon AJ, Stein J, Broides A, Somekh I, Almashanu S, Somech R.
    Immunol Res; 2018 Aug 11; 66(4):537-542. PubMed ID: 30084052
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  • 10. Mutational landscape of severe combined immunodeficiency patients from Turkey.
    Firtina S, Yin Ng Y, Hatirnaz Ng O, Kiykim A, Aydiner E, Nepesov S, Camcioglu Y, Sayar EH, Reisli I, Torun SH, Cogurlu T, Uygun D, Simsek IE, Kaya A, Cipe F, Cagdas D, Yucel E, Cekic S, Uygun V, Baris S, Ozen A, Ozbek U, Sayitoglu M.
    Int J Immunogenet; 2020 Dec 11; 47(6):529-538. PubMed ID: 32445296
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  • 13. Opening SCID newborn screening for novel exon genetic variants through whole-exome sequencing in China.
    Yang X, He J, Peng W, Zheng S, Ma N, Chen Y, Shen J, Kong X.
    Int Immunopharmacol; 2024 Aug 20; 137():112402. PubMed ID: 38908084
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  • 14. The scary world of variants of uncertain significance (VUS): A hitchhiker's guide to interpretation.
    Sullivan KE.
    J Allergy Clin Immunol; 2021 Feb 20; 147(2):492-494. PubMed ID: 32598897
    [No Abstract] [Full Text] [Related]

  • 15. Neonatal erythroderma.
    Cotter CL, Rivers E, Salisbury J, Duarte Williamson E, Tewari A.
    Clin Exp Dermatol; 2020 Jul 20; 45(5):646-649. PubMed ID: 32212273
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  • 20. Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis.
    Rubin TS, Rockman-Greenberg C, Van Caeseele P, Cuvelier GDE, Kwan L, Schroeder ML.
    J Clin Immunol; 2018 Oct 20; 38(7):742-744. PubMed ID: 30288645
    [No Abstract] [Full Text] [Related]

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