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Journal Abstract Search

492 related items for PubMed ID: 29152903

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  • 2. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
    Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF.
    Proc Natl Acad Sci U S A; 2014 Dec 16; 111(50):17953-8. PubMed ID: 25472840
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  • 3. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
    Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC.
    Am J Hum Genet; 2008 Oct 16; 83(4):511-9. PubMed ID: 18834967
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  • 4. Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
    Xu C, Cassatella D, van der Sloot AM, Quinton R, Hauschild M, De Geyter C, Flück C, Feller K, Bartholdi D, Nemeth A, Halperin I, Pekic Djurdjevic S, Maeder P, Papadakis G, Dwyer AA, Marino L, Favre L, Pignatelli D, Niederländer NJ, Acierno J, Pitteloud N.
    Genet Med; 2018 Aug 16; 20(8):872-881. PubMed ID: 29144511
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  • 5. The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
    Kim HG, Layman LC.
    Mol Cell Endocrinol; 2011 Oct 22; 346(1-2):74-83. PubMed ID: 21856375
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  • 6. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
    Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH.
    Clin Genet; 2009 Jan 22; 75(1):65-71. PubMed ID: 19021638
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  • 7. Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
    Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M.
    J Clin Endocrinol Metab; 2020 May 01; 105(5):. PubMed ID: 31689711
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  • 9. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
    Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.
    J Clin Endocrinol Metab; 2014 Oct 01; 99(10):E2138-43. PubMed ID: 25077900
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  • 10. Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.
    Obata Y, Takayama K, Nishikubo H, Tobimatsu A, Matsuda I, Uehara Y, Maruo Y, Sho H, Kosugi M, Yasuda T.
    BMC Endocr Disord; 2023 May 25; 23(1):118. PubMed ID: 37231428
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  • 11. Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.
    Layman WS, Hurd EA, Martin DM.
    Hum Mol Genet; 2011 Aug 15; 20(16):3138-50. PubMed ID: 21596839
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  • 18. High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.
    Gonçalves CI, Patriarca FM, Aragüés JM, Carvalho D, Fonseca F, Martins S, Marques O, Pereira BD, Martinez-de-Oliveira J, Lemos MC.
    Sci Rep; 2019 Feb 07; 9(1):1597. PubMed ID: 30733481
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  • 19. [Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation].
    Khabibullina DA, Kalinchenko NY, Egorova SV, Vasilyev EV, Petrov VM, Tiulpakov AN.
    Probl Endokrinol (Mosk); 2021 May 07; 67(3):68-72. PubMed ID: 34297504
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  • 20. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
    Hale CL, Niederriter AN, Green GE, Martin DM.
    Am J Med Genet A; 2016 Feb 07; 170A(2):344-354. PubMed ID: 26590800
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