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Journal Abstract Search

257 related items for PubMed ID: 30797979

  • 1. 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; 63(1):103634. PubMed ID: 30797979
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  • 2. Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: case report and review of literature.
    Brock JA, Dyack S, Ludman M, Dumas N, Gaudet M, Morash B.
    Am J Med Genet A; 2012 Feb; 158A(2):406-11. PubMed ID: 22247041
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  • 3. Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.
    Libotte F, Bizzoco D, Gabrielli I, Mesoraca A, Cignini P, Vitale SG, Marilli I, Gulino FA, Rapisarda AM, Giorlandino C.
    Taiwan J Obstet Gynecol; 2016 Dec; 55(6):863-866. PubMed ID: 28040135
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  • 4. Prenatal diagnosis of mosaic tetrasomy 5p.
    Park JP, Barefoot KH, Ornvold K, Berg SZ, Dossu JR, Mohandas TK.
    Prenat Diagn; 2001 May; 21(5):351-3. PubMed ID: 11360274
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  • 5. Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis.
    Wilson SC, Susman M, Bain S, Wohlferd M, Van Dyke D, Daniel A, White B, Gardner RJ.
    Prenat Diagn; 2002 Aug; 22(8):681-5. PubMed ID: 12210576
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  • 6. Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern.
    Luís T, Candeias C, Domingues S, Oliva-Teles N, Mota C, Reis CF.
    Taiwan J Obstet Gynecol; 2022 Jan; 61(1):150-152. PubMed ID: 35181029
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  • 7. Prenatal diagnosis of mosaic tetrasomy 8p.
    Le Bris MJ, Marcorelles P, Audrézet MP, Parent P, Heren P, Le Guern H, Herry A, Morel F, Collet M, Férec C, De Braekeleer M.
    Am J Med Genet A; 2003 Jul 01; 120A(1):44-8. PubMed ID: 12794691
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  • 8. 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 01; 167(6):1252-61. PubMed ID: 25847481
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  • 9. Pallister-Killian syndrome: Review of fetal phenotype.
    Thakur S, Gupta R, Tiwari B, Singh N, Saxena KK.
    Clin Genet; 2019 Jan 01; 95(1):79-84. PubMed ID: 29790157
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  • 13. Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)].
    Sijmons RH, Leegte B, van Lingen RA, de Pater JM, van der Veen AY, del Canho H, Bos C, ten Kate LP, Breed AS.
    Am J Med Genet; 1993 Sep 15; 47(4):559-62. PubMed ID: 7504882
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  • 14. Prenatal management of mosaic tetrasomy 5p.
    Reddy KS, Huang B.
    Prenat Diagn; 2003 Jan 15; 23(1):82-5. PubMed ID: 12533823
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  • 16. Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes.
    Nucaro AL, Rossino R, Pruna D, Rassu S, Cianchetti C, Cao A, Moi P.
    Prenat Diagn; 2006 May 15; 26(5):418-9. PubMed ID: 16532523
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  • 18. 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 15; 37(3):573-577. PubMed ID: 31981038
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  • 19. The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report.
    Johnson DL, Abdala Villa C, Lustig MC, Robin NH.
    Am J Med Genet A; 2021 Nov 15; 185(11):3507-3509. PubMed ID: 34472202
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