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Journal Abstract Search

261 related items for PubMed ID: 28663160

  • 1. A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.
    Tuhan H, Ceylaner S, Nalbantoğlu Ö, Acar S, Abacı A, Böber E, Demir K.
    J Clin Res Pediatr Endocrinol; 2017 Dec 15; 9(4):371-374. PubMed ID: 28663160
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  • 2. Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.
    Zhou Q, Yu J, Yuan X, Wang C, Zhu Z, Zhang A, Gu W.
    Front Endocrinol (Lausanne); 2021 Dec 15; 12():606964. PubMed ID: 33995269
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  • 3. Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.
    Mohanan S, Chandrashekar L, Semple RK, Thappa DM, Parameswaran N, Negi VS, Ramassamy S.
    Int J Dermatol; 2013 Feb 15; 52(2):182-5. PubMed ID: 23347304
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  • 4. Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
    Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F.
    Acta Diabetol; 2013 Dec 15; 50(6):951-7. PubMed ID: 23824322
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  • 7. A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
    Ben Abdelaziz R, Ben Chehida A, Azzouz H, Boudabbous H, Lascols O, Ben Turkia H, Tebib N.
    Eur J Med Genet; 2016 Jan 15; 59(1):16-9. PubMed ID: 26691667
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  • 12. A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.
    Aghababaie AS, Ford-Adams M, Buchanan CR, Arya VB, Colclough K, Kapoor RR.
    J Pediatr Endocrinol Metab; 2020 May 22; 33(6):809-812. PubMed ID: 32441669
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  • 13. Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.
    Takasawa K, Tsuji-Hosokawa A, Takishima S, Wada Y, Nagasaki K, Dateki S, Numakura C, Hijikata A, Shirai T, Kashimada K, Morio T.
    J Diabetes; 2019 Jan 22; 11(1):46-54. PubMed ID: 29877041
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  • 17. Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
    Choi JH, Kang M, Kim JH, Cho J, Kim GH, Yoo HW.
    Horm Res Paediatr; 2015 Jan 22; 84(2):73-8. PubMed ID: 26160152
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  • 19. Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.
    Bastaki F, Nair P, Mohamed M, Khadora MM, Saif F, Tawfiq N, Al-Ali MT, Hamzeh AR.
    Horm Res Paediatr; 2017 Jan 22; 87(1):64-68. PubMed ID: 27326825
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