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194 related items for PubMed ID: 30193577

  • 1. Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report.
    Pinto IP, Minasi LB, Steckelberg R, da Silva CC, da Cruz AD.
    BMC Pediatr; 2018 Sep 07; 18(1):298. PubMed ID: 30193577
    [Abstract] [Full Text] [Related]

  • 2. Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
    El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A.
    Am J Med Genet A; 2015 Jun 07; 167(6):1252-61. PubMed ID: 25847481
    [Abstract] [Full Text] [Related]

  • 3. New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl.
    de Azevedo Moreira LM, Freitas LM, Gusmão FA, Riegel M.
    Birth Defects Res A Clin Mol Teratol; 2003 Dec 07; 67(12):985-8. PubMed ID: 14745919
    [Abstract] [Full Text] [Related]

  • 4. Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production.
    Ogino W, Takeshima Y, Nishiyama A, Yagi M, Oka N, Matsuo M.
    Kobe J Med Sci; 2007 Dec 07; 53(4):143-50. PubMed ID: 17932453
    [Abstract] [Full Text] [Related]

  • 5. Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review.
    Chen CP, Wang LK, Chern SR, Wu PS, Chen YT, Kuo YL, Chen WL, Lee MS, Wang W.
    Taiwan J Obstet Gynecol; 2014 Mar 07; 53(1):79-85. PubMed ID: 24767652
    [Abstract] [Full Text] [Related]

  • 6. Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival.
    Tonk VS.
    Clin Genet; 1997 Jul 07; 52(1):23-9. PubMed ID: 9272709
    [Abstract] [Full Text] [Related]

  • 7. Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.
    Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordass U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E.
    Cytogenet Genome Res; 2012 Jul 07; 136(4):237-41. PubMed ID: 22487875
    [Abstract] [Full Text] [Related]

  • 8. Prenatal diagnosis and findings of tetrasomy 9p.
    Lazebnik N, Cohen L.
    J Obstet Gynaecol Res; 2015 Jul 07; 41(7):997-1002. PubMed ID: 25944096
    [Abstract] [Full Text] [Related]

  • 9. A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.
    Bellil H, Herve B, Herzog E, Ayoubi JM, Vialard F, Poulain M.
    J Assist Reprod Genet; 2020 Mar 07; 37(3):573-577. PubMed ID: 31981038
    [Abstract] [Full Text] [Related]

  • 10. Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review.
    Kok Kilic G, Pariltay E, Karaca E, Durmaz B, Ekici H, Imamoglu M, Okmen F, Akin H, Cogulu O.
    Taiwan J Obstet Gynecol; 2022 Jan 07; 61(1):122-126. PubMed ID: 35181020
    [Abstract] [Full Text] [Related]

  • 11. Possible new defining presentation of mosaic tetrasomy 9p: multiple and recurrent pilomatrixoma.
    Wang JW, Behnam R, Porto DA.
    Dermatol Online J; 2024 Jul 15; 30(3):. PubMed ID: 39090039
    [Abstract] [Full Text] [Related]

  • 12. Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.
    di Vera E, Liberati M, Celentano C, Calabrese G, Guanciali-Franchi PE, Morizio E, Rotmensch S.
    J Assist Reprod Genet; 2008 Jul 15; 25(11-12):577-80. PubMed ID: 18953648
    [Abstract] [Full Text] [Related]

  • 13. A small supernumerary marker chromosome resulting in mosaic partial tetrasomy 4q26-q31.21 in a foetus with multiple congenital malformations.
    Zhang ZT, Qi WX, Liu CX, Yin SW, Zhao Y, Li-Ling J, Lv Y.
    J Genet; 2019 Mar 15; 98():. PubMed ID: 30945692
    [Abstract] [Full Text] [Related]

  • 14. Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
    Shehab MI, Mazen I, Bint S.
    Am J Med Genet A; 2011 Oct 15; 155A(10):2496-2500. PubMed ID: 21998854
    [Abstract] [Full Text] [Related]

  • 15. Diagnosis and clinical delineation of mosaic tetrasomy 5p.
    Blakey-Cheung S, Parker P, Schlaff W, Monseur B, Keppler-Noreuil K, Al-Kouatly HB.
    Eur J Med Genet; 2020 Jan 15; 63(1):103634. PubMed ID: 30797979
    [Abstract] [Full Text] [Related]

  • 16. A very rare case of a newborn with tetrasomy 9p and literature review.
    Süleyman M, Oğuz S, Kaykı G, Çelik HT, Şimsek-Kiper PÖ, Utine GE, Yiğit Ş.
    Turk J Pediatr; 2022 Jan 15; 64(1):171-178. PubMed ID: 35286047
    [Abstract] [Full Text] [Related]

  • 17. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p.
    Leichtman LG, Zackowski JL, Storto PD, Newlin A.
    Am J Med Genet; 1996 Jun 14; 63(3):434-7. PubMed ID: 8737648
    [Abstract] [Full Text] [Related]

  • 18. Tetrasomy 9q in an infant with cleft palate and multiple anomalies.
    McPherson E, Neiswanger K, Surti U.
    Clin Dysmorphol; 2005 Jul 14; 14(3):145-147. PubMed ID: 15930905
    [Abstract] [Full Text] [Related]

  • 19. [Misdiagnosis of mosaic tetrasomy 9p in a fetus by single nucleotide polymorphism-based array].
    Wu J, Xie Y, Chen B.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec 14; 32(6):830-3. PubMed ID: 26663059
    [Abstract] [Full Text] [Related]

  • 20. Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.
    Verheij JB, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RM, Buys CH, van Essen AJ.
    Am J Med Genet; 1999 Sep 10; 86(2):168-73. PubMed ID: 10449655
    [Abstract] [Full Text] [Related]

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