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Academic Journal

Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18.

  • Authors : Koide K; Division of Genetics, Department of Pediatrics, Floating Hospital for Children at Tufts Medical Center, 800 Washington Street, Box 394, Boston, MA 02111, USA.; Slonim DK

Subjects: Trisomy*/Trisomy*/Trisomy*/genetics; Adrenal Glands/Adrenal Glands/Adrenal Glands/growth & development ; Adrenal Glands/Adrenal Glands/Adrenal Glands/metabolism Chromosome 18, trisomy 18p; Chromosome 18, trisomy 18q

  • Source: Human genetics [Hum Genet] 2011 Mar; Vol. 129 (3), pp. 295-305. Date of Electronic Publication: 2010 Dec 09.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18.

  • Authors : Wataganara T; Department of Pediatrics, Obstetrics and Gynecology, Division of Genetics, Tufts-New England Medical Center, Tufts University School of Medicine, 750 Washington Street, Box 394, Boston, MA 02111, USA.; LeShane ES

Subjects: Fetal Blood* ; Prenatal Diagnosis* ; Trisomy*

  • Source: Human genetics [Hum Genet] 2003 Feb; Vol. 112 (2), pp. 204-8. Date of Electronic Publication: 2002 Nov 12.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction.

  • Authors : Maratou K; Department of Medical and Community Genetics, Imperial College of Science, Technology and Medicine, The Kennedy-Galton Centre, Northwick Park Hospital, Harrow, UK.; Siddique Y

Subjects: Trisomy*; Chromosomes, Human, Pair 21/Chromosomes, Human, Pair 21/Chromosomes, Human, Pair 21/*genetics ; DNA/DNA/DNA/*genetics

  • Source: Human genetics [Hum Genet] 2000 May; Vol. 106 (5), pp. 525-30.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

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Academic Journal

Double trisomy in spontaneous abortions.

  • Authors : Reddy KS; Cytogenetics Laboratory, Quest Diagnostics, San Juan Capistrano, CA 92690-6130, USA.

Subjects: Trisomy*; Abortion, Spontaneous/Abortion, Spontaneous/Abortion, Spontaneous/*genetics; Adult

  • Source: Human genetics [Hum Genet] 1997 Dec; Vol. 101 (3), pp. 339-45.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

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Academic Journal

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.

  • Authors : Erdel M; Institut für Medizinische Biologie und Humangenetik, Leopold-Franzens-Universität Innsbruck, Austria.; Duba HC

Subjects: Chromosomes, Human, Pair 6* ; Trisomy*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics

  • Source: Human genetics [Hum Genet] 1997 May; Vol. 99 (5), pp. 596-601.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

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Academic Journal

Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis.

  • Authors : Stone D; Laboratory of Genetic Disease Research, National Center for Human Genome Research (NCHGR), National Institutes of Health, Bethesda, MD 20892-4470, USA.; Ning Y

Subjects: Chromosomes, Human, Pair 10* ; Trisomy*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics

  • Source: Human genetics [Hum Genet] 1996 Oct; Vol. 98 (4), pp. 396-402.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

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Academic Journal

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.

  • Authors : Nadal M; Departament de Genètica Molecular, L'Hospitalet de Llobregat, Barcelona, Spain.; Milà M

Subjects: Chromosomes, Human, Pair 13* ; Chromosomes, Human, Pair 21* ; Translocation, Genetic*

  • Source: Human genetics [Hum Genet] 1996 Oct; Vol. 98 (4), pp. 460-6.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

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Academic Journal

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.

  • Authors : Roa BB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Greenberg F

Subjects: Chromosomes, Human, Pair 17* ; Multigene Family* ; Trisomy*

  • Source: Human genetics [Hum Genet] 1996 May; Vol. 97 (5), pp. 642-9.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

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Academic Journal

Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction.

Subjects: Chromosomes, Human, Pair 18* ; Nondisjunction, Genetic* ; Trisomy*

  • Source: Human genetics [Hum Genet] 1996 Feb; Vol. 97 (2), pp. 218-23.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

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  • 1-10 of  2,278 results for ""Trisomy""