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  1. No Access

    Article

    Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

    Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular abnormalities. Th...

    E. Ferda Percin, Lynda A. Ploder, Jessica J. Yu, Kemal Arici… in Nature Genetics (2000)

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    Article

    Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome

    We have isolated the human homolog of a novel rodent gene that may be involved in the regulation of pituitary gene transcription. The human PREB gene encodes a predicted protein of 417 amino acids, exhibiting...

    Catherine L. Taylor Clelland, Brynn Levy, Judith M. McKie… in Mammalian Genome (2000)

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    Article

    Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1–24.3

    A 2.1-kb cDNA probe encoding the human SH2-domain containing protein-tyrosine phosphatase SH-PTP2 (PTPN11) was hybridized to human metaphase chromosomes in three independent experiments. In each instance, hybr...

    Ute Dechert, Alessandra M. V. Duncan, Lison Bastien, Catherine Duff… in Human Genetics (1995)

  4. No Access

    Article

    Human methylenetetrahydrofolate reductase: isolation of cDNA, map** and mutation identification

    Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, a cofactor for homocysteine methylation to methionine. MTHFR deficiency, an autosomal...

    Philippe Goyette, James S. Sumner, Renate Milos, Alessandra M.V. Duncan… in Nature Genetics (1994)

  5. No Access

    Article

    Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9

    Fanconi anaemia (FA) is a DNA repair disorder characterized by cellular hypersensitivity to DNA cross–linking agents and extensive phenotypic heterogeneity. To determine the extent of genetic heterogeneity pre...

    Craig A. Strathdee, Alessandra M.V. Duncan, Manuel Buchwald in Nature Genetics (1992)

  6. No Access

    Article

    In situ hybridization studies using a molecular probe that maps to Xq27–Xq28

    The locus DXS98, which is recognized by the sequence p4D-8, is closely linked to the FRAXA locus. In this study we present data that confirm the existing map** data, sublocalizing this sequence to the Xq27 r...

    Alessandra M. V. Duncan, Clive Morgan in Human Genetics (1990)

  7. No Access

    Article

    Trisomy 22 in a newborn with multiple malformations

    A case of complete trisomy 22 in live-born female child with multiple malformations is reported. The karyotype of the index patient had 46 chromosomes, with one chromosome 22 missing and one supranumerary meta...

    I. Voiculescu, Elke Back, Alessandra M. V. Duncan, H. Schwaibold… in Human Genetics (1987)

  8. No Access

    Article

    Isolation and characterization of an α-satellite repeated sequence from human chromosome 22

    We constructed a library in λIL47.1 with DNA isolated from flow-sorted human chromosome 22. Over 50% of the recombinants contained the same highly repetitive sequence. When this sequence was used to probe Sout...

    Heather E. McDermid, Alessandra M. V. Duncan, Michael J. Higgins… in Chromosoma (1986)