Результаты поиска - Elaine H. Zackai

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  1. 1
    Mutations in the humanTWIST gene

    Mutations in the humanTWIST gene по Karen W. Gripp, Elaine H. Zackai, Catherine A. Stolle

    Опубликовано 2000
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    Revisão
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  2. 2
    CD4 <sup>+</sup> CD25 <sup>+</sup> T-Cell Production in Healthy Humans and in Patients with Thymic Hypoplasia

    CD4 <sup>+</sup> CD25 <sup>+</sup> T-Cell Production in Healthy Humans and in Patients with Thymic Hypoplasia по Kathleen E. Sullivan, Donna M. McDonald‐McGinn, Elaine H. Zackai

    Опубликовано 2002
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    Artigo
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  3. 3
    Aortic root dilation in patients with 22q11.2 deletion syndrome

    Aortic root dilation in patients with 22q11.2 deletion syndrome по Anitha S. John, Donna M. McDonald‐McGinn, Elaine H. Zackai, Elizabeth Goldmuntz

    Опубликовано 2009
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    Artigo
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  4. 4
    Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22Q11.2 Deletion Syndrome

    Visuospatial and Numerical Cognitive Deficits in Children with Chromosome 22Q11.2 Deletion Syndrome по Tabassome Simon, Carrie E. Bearden, Donna M. McDonald‐McGinn, Elaine H. Zackai

    Опубликовано 2005
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    Artigo
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  5. 5
    Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

    Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals по Melissa T. Carter, Stephanie A. St. Pierre, Elaine H. Zackai, Beverly S. Emanuel, Kym M. Boycott

    Опубликовано 2009
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    Artigo
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  6. 6
    Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion

    Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion по Marsha Gerdes, Cynthia Solot, Paul P. Wang, Donna M. McDonald‐McGinn, Elaine H. Zackai

    Опубликовано 2001
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    Artigo
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  7. 7
    CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features

    CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A C... по Soma Jyonouchi, Donna M. McDonald‐McGinn, Sherri J. Bale, Elaine H. Zackai, Kathleen E. Sullivan

    Опубликовано 2009
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    Artigo
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  8. 8
    T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

    T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome по Lisa M. Piliero, Amy N. Sanford, Donna M. McDonald‐McGinn, Elaine H. Zackai, Kathleen E. Sullivan

    Опубликовано 2003
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    Artigo
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  9. 9
    Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion

    Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion по Michael Woodin, Paul P. Wang, David O. Aleman, Donna M. McDonald‐McGinn, Elaine H. Zackai, Edward Moss

    Опубликовано 2001
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    Artigo
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  10. 10
    Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery☆☆☆

    Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery☆☆☆ по Stephanie Fuller, Alex S. Nord, Marsha Gerdes, Gil Wernovsky, Gail P. Jarvik, Judy Bernbaum, Elaine H. Zackai, J. William Gaynor

    Опубликовано 2009
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    Artigo
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  11. 11
    Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

    Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) по Christopher A. Smith, Deborah A. Driscoll, Beverly S. Emanuel, Donna M. McDonald‐McGinn, Elaine H. Zackai, Kathleen E. Sullivan

    Опубликовано 1998
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    Artigo
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  12. 12
    Jagged1 mutations in patients ascertained with isolated congenital heart defects

    Jagged1 mutations in patients ascertained with isolated congenital heart defects по Ian D. Krantz, Rosemarie Smith, Ray P. Colliton, Hilary Tinkel, Elaine H. Zackai, David A. Piccoli, Elizabeth Goldmuntz, Nancy B. Spinner

    Опубликовано 1999
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    Artigo
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  13. 13
    Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

    Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) по Robert Zemble, Eline T. Luning Prak, Kenyetta R. McDonald, Donna M. McDonald‐McGinn, Elaine H. Zackai, Kathleen E. Sullivan

    Опубликовано 2010
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    Artigo
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  14. 14
    Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

    Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. по Deborah A. Driscoll, J Salvin, Beatrice Sellinger, Marcia L. Budarf, Donna M. McDonald‐McGinn, Elaine H. Zackai, Beverly S. Emanuel

    Опубликовано 1993
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    Artigo
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  15. 15
    Identification of a Mutation in a GATA Binding Site of the Platelet Glycoprotein Ibβ Promoter Resulting in the Bernard-Soulier Syndrome

    Identification of a Mutation in a GATA Binding Site of the Platelet Glycoprotein Ibβ Promoter Resulting in the Bernard-Soulier Syndrome по Laural B. Ludlow, Barbara P. Schick, Marcia L. Budarf, Deborah A. Driscoll, Elaine H. Zackai, Alan R. Cohen, Barbara A. Konkle

    Опубликовано 1996
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    Artigo
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  16. 16
    Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

    Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome по Sarah E. Fine, Alison Weissman, Marsha Gerdes, Jennifer Pinto‐Martin, Elaine H. Zackai, Donna M. McDonald‐McGinn, Beverly S. Emanuel

    Опубликовано 2005
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    Artigo
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  17. 17
    Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2

    Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2 по M. Cristina Digilio, Donna M. McDonald‐McGinn, Carrie L. Heike, Charles Catania, Bruno Dallapiccola, Bruno Marino, Elaine H. Zackai

    Опубликовано 2009
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    Artigo
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  18. 18
    Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

    Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net! по Donna M. McDonald‐McGinn, Melissa K. Tonnesen, Ayala Laufer‐Cahana, Brenda Finucane, Deborah A. Driscoll, Beverly S. Emanuel, Elaine H. Zackai

    Опубликовано 2001
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    Artigo
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  19. 19
    Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)

    Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial... по Kathleen E. Sullivan, Abbas F. Jawad, Peter Randall, Deborah A. Driscoll, Beverly S. Emanuel, Donna M. McDonald‐McGinn, Elaine H. Zackai

    Опубликовано 1998
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    Artigo
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  20. 20
    Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome

    Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome по Alexei Manso Corrêa Machado, Tony J. Simon, Vy H. Nguyen, Donna M. McDonald‐McGinn, Elaine H. Zackai, James C. Gee

    Опубликовано 2006
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    Artigo
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