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Journal Abstract Search

173 related items for PubMed ID: 22190277

  • 1. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
    Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L.
    Am J Med Genet A; 2012 Feb; 158A(2):391-9. PubMed ID: 22190277
    [Abstract] [Full Text] [Related]

  • 2. Unexpected phenotype in a frameshift mutation of PTCH1.
    Beltrami B, Prada E, Tolva G, Scuvera G, Silipigni R, Graziani D, Bulfamante G, Gervasini C, Marchisio P, Milani D.
    Mol Genet Genomic Med; 2020 Jan; 8(1):e987. PubMed ID: 31578813
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  • 3. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
    Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, Masuno M, Chiyo H, Kurosawa K.
    Congenit Anom (Kyoto); 2009 Mar; 49(1):8-14. PubMed ID: 19243411
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  • 5. A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter.
    Yamada H, Shimura M, Takahashi H, Nara S, Morishima Y, Go S, Miyashita T, Numabe H, Kawashima H.
    Eur J Med Genet; 2020 May; 63(5):103872. PubMed ID: 32028043
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Muller E, Hudgins L.
    ; 1993 May. PubMed ID: 21850767
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  • 10. Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome.
    Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W.
    Prenat Diagn; 2006 Aug; 26(8):725-9. PubMed ID: 16927391
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  • 17. Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
    de Ravel TJ, Ameye L, Ballon K, Borghgraef M, Vermeesch JR, Devriendt K.
    Eur J Med Genet; 2009 Aug; 52(2-3):145-7. PubMed ID: 19233320
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  • 18. Retrospective analysis of the histopathologic features of basal cell carcinomas in pediatric patients with basal cell nevus syndrome.
    Nguyen CV, Rubin AI, Smith A, Castelo-Soccio L.
    J Cutan Pathol; 2021 Mar; 48(3):390-395. PubMed ID: 33063358
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  • 19. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.
    Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tümer Z.
    Am J Med Genet A; 2005 Jan 30; 132A(3):324-8. PubMed ID: 15690381
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