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Journal Abstract Search

350 related items for PubMed ID: 19021638

  • 1. 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; 75(1):65-71. PubMed ID: 19021638
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  • 7. Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
    Balasubramanian R, Crowley WF.
    Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):507-515. PubMed ID: 29152903
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  • 9. Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
    Barraud S, Delemer B, Poirsier-Violle C, Bouligand J, Mérol JC, Grange F, Higel-Chaufour B, Decoudier B, Zalzali M, Dwyer AA, Acierno JS, Pitteloud N, Millar RP, Young J.
    Neuroendocrinology; 2021 Dec; 111(1-2):99-114. PubMed ID: 32074614
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  • 10. Kallmann syndrome in women: from genes to diagnosis and treatment.
    Meczekalski B, Podfigurna-Stopa A, Smolarczyk R, Katulski K, Genazzani AR.
    Gynecol Endocrinol; 2013 Apr; 29(4):296-300. PubMed ID: 23368665
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  • 11. Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
    Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF.
    J Clin Endocrinol Metab; 2013 May; 98(5):E943-53. PubMed ID: 23533228
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  • 12. 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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  • 14. Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.
    Ogata T, Fujiwara I, Ogawa E, Sato N, Udaka T, Kosaki K.
    Endocr J; 2006 Dec 16; 53(6):741-3. PubMed ID: 16960397
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  • 15. A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.
    Xu W, Zhou W, Lin H, Ye D, Chen G, Dong F, Shen J.
    BMC Endocr Disord; 2021 Sep 25; 21(1):193. PubMed ID: 34563184
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  • 16. Genetics of congenital hypogonadotropic hypogonadism in Denmark.
    Tommiska J, Känsäkoski J, Christiansen P, Jørgensen N, Lawaetz JG, Juul A, Raivio T.
    Eur J Med Genet; 2014 Jul 25; 57(7):345-8. PubMed ID: 24732674
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  • 18. Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
    Laitinen EM, Vaaralahti K, Tommiska J, Eklund E, Tervaniemi M, Valanne L, Raivio T.
    Orphanet J Rare Dis; 2011 Jun 17; 6():41. PubMed ID: 21682876
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  • 19. Clinical genetics of Kallmann syndrome.
    Dodé C, Hardelin JP.
    Ann Endocrinol (Paris); 2010 May 17; 71(3):149-57. PubMed ID: 20362962
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  • 20. Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.
    Wen J, Pan L, Xu X, Wang J, Hu C.
    Medicine (Baltimore); 2018 Jul 17; 97(27):e11284. PubMed ID: 29979396
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