Search Results - "Morgan, Chad T."

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  1. 1
    Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

    Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes by Kumar, Ravinesh A, Everman, David B, Morgan, Chad T, Slavotinek, Anne, Schwartz, Charles E, Simpson, Elizabeth M

    Published in BMC medical genetics (26-07-2007)
    “…A disruption of sorting nexin 3 (SNX3) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and…”
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  2. 2
    A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24

    A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24 by de Mollerat, Xavier J., Gurrieri, Fiorella, Morgan, Chad T., Sangiorgi, Eugenio, Everman, David B., Gaspari, Paola, Amiel, Jeanne, Bamshad, Michael J., Lyle, Robert, Blouin, Jean-Louis, Allanson, Judith E., Le Marec, Bernard, Wilson, Melba, Braverman, Nancy E., Radhakrishna, Uppala, Delozier-Blanchet, Celia, Abbott, Albert, Elghouzzi, Vincent, Antonarakis, Stylianos, Stevenson, Roger E., Munnich, Arnold, Neri, Giovanni, Schwartz, Charles E.

    Published in Human molecular genetics (15-08-2003)
    “…Split hand–split foot malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an…”
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  3. 3
    Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation

    Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation by Everman, David B., Morgan, Chad T., Lyle, Robert, Laughridge, Mary E., Bamshad, Michael J., Clarkson, Katie B., Colby, Randall, Gurrieri, Fiorella, Innes, A. Micheil, Roberson, Jacquelyn, Schrander-Stumpel, Connie, van Bokhoven, Hans, Antonarakis, Stylianos E., Schwartz, Charles E.

    “…Split‐hand/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and…”
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  4. 4
    Absence of mutations in NR2E1 and SNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

    Absence of mutations in NR2E1 and SNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes by Kumar, Ravinesh A, Everman, David B, Morgan, Chad T, Slavotinek, Anne, Schwartz, Charles E, Simpson, Elizabeth M

    Published in BMC medical genetics (26-07-2007)
    “…Abstract Background A disruption of sorting nexin 3 ( SNX3 ) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia,…”
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