Search Results - "Teebi, A.S."

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  1. 1
    Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene

    Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene by Walker, L.C., Teebi, A.S., Marini, J.C., Paepe, A. De, Malfait, F., Atsawasuwan, P., Yamauchi, M., Yeowell, H.N.

    Published in Molecular genetics and metabolism (01-12-2004)
    “…The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized by tissue fragility, hyperelasticity of the…”
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  2. 2
    Prenatal diagnosis of fragile X syndrome: identification of a male fetus mosaic for a premutation on chorionic villus sampling - management and follow-up

    Prenatal diagnosis of fragile X syndrome: identification of a male fetus mosaic for a premutation on chorionic villus sampling - management and follow-up by Kennedy, S.J., Wei, C., Steele, L., Teebi, A.S.

    Published in Genetics in medicine (01-01-2000)
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  3. 3
    Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

    Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings by Majeed, H A, Kalaawi, M, Mohanty, D, Teebi, A S, Tunjekar, M F, al-Gharbawy, F, Majeed, S A, al-Gazzar, A H

    Published in The Journal of pediatrics (01-11-1989)
    “…Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis, uncommon childhood diseases of unknown cause, occurred in three children…”
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  4. 4
    Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

    Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome? by Siegel-Bartlet, J, Levin, A, Teebi, A S, Kennedy, S J

    Published in Journal of medical genetics (01-02-2002)
    “…1 Also, teratogenic conditions, such as valproate embryopathy, may also have an association with neural tube defects. 2 We present an apparently autosomal…”
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  5. 5
    FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype

    FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype by Chu, T W, Teebi, A S, Gibson, L, Breg, W R, Yang-Feng, T L

    Published in American journal of medical genetics (01-08-1994)
    “…An infant girl with manifestations resembling Optiz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with…”
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  6. 6
    Velo-facio-skeletal syndrome in a mother and daughter

    Velo-facio-skeletal syndrome in a mother and daughter by Teebi, A S, Qumsiyeh, M B, Meyers-Seifer, C H, Meyn, M S

    Published in American journal of medical genetics (31-07-1995)
    “…We present a woman and her daughter with an apparently new short stature syndrome associated with facial and skeletal anomalies and hypernasality…”
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