Hakutulokset - Paweł Stankiewicz

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  1. 1
    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

    Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes Tekijä James R. Lupski, Paweł Stankiewicz

    Julkaistu 2005
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  2. 2
    Alveolar Capillary Dysplasia

    Alveolar Capillary Dysplasia Tekijä Naomi B. Bishop, Paweł Stankiewicz, Robin H. Steinhorn

    Julkaistu 2011
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  3. 3
    Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease

    Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease Tekijä Avinash V. Dharmadhikari, Przemysław Szafrański, Vladimir V. Kalinichenko, Paweł Stankiewicz

    Julkaistu 2015
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  4. 4
    The Evolutionary Chromosome Translocation 4;19 in<i>Gorilla gorilla</i>is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

    The Evolutionary Chromosome Translocation 4;19 in<i>Gorilla gorilla</i>is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Pr... Tekijä Paweł Stankiewicz, Sung Sup Park, Ken Inoue, James R. Lupski

    Julkaistu 2001
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  5. 5
    Somatic mosaicism: implications for disease and transmission genetics

    Somatic mosaicism: implications for disease and transmission genetics Tekijä Ian M. Campbell, Chad A. Shaw, Paweł Stankiewicz, James R. Lupski

    Julkaistu 2015
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  6. 6
    An estimation of the prevalence of genomic disorders using chromosomal microarray data

    An estimation of the prevalence of genomic disorders using chromosomal microarray data Tekijä Madelyn A. Gillentine, Philip J. Lupo, Paweł Stankiewicz, Christian P. Schaaf

    Julkaistu 2018
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  7. 7
    Serial segmental duplications during primate evolution result in complex human genome architecture

    Serial segmental duplications during primate evolution result in complex human genome architecture Tekijä Paweł Stankiewicz, Christine J. Shaw, Marjorie Withers, Ken Inoue, James R. Lupski

    Julkaistu 2004
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  8. 8
    Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

    Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease Tekijä Jennifer A. Lee, Ken Inoue, Sau Wai Cheung, Chad A. Shaw, Paweł Stankiewicz, James R. Lupski

    Julkaistu 2006
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  9. 9
    Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

    Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis Tekijä Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga‐Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz, Anna Gambin

    Julkaistu 2012
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  10. 10
    Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

    Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy Tekijä Cornelius F. Boerkoel, Hiroshi Takashima, Paweł Stankiewicz, Carlos García, Steven M. Leber, Laila Rhee-Morris, James R. Lupski

    Julkaistu 2001
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  11. 11
    Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

    Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics Tekijä Ian M. Campbell, Jonathan R. Stewart, Regis A. James, James R. Lupski, Paweł Stankiewicz, Peter Olofsson, Chad A. Shaw

    Julkaistu 2014
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  12. 12
    Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

    Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs Tekijä Sung Sup Park, Paweł Stankiewicz, Weimin Bi, Christine J. Shaw, Jessica A. Lehoczky, Ken Dewar, Bruce W. Birren, James R. Lupski

    Julkaistu 2002
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  13. 13
    Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

    Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders Tekijä Marie Vincent, Justyna A. Karolak, Gail Deutsch, Tomasz Gambin, Edwina J. Popek, Bertrand Isidor, Przemysław Szafrański, Cédric Le Caignec, Paweł Stankiewicz

    Julkaistu 2019
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  14. 14
    Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture

    Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture Tekijä Adrian Gherman, Peter E. Chen, Tanya M. Teslovich, Paweł Stankiewicz, Marjorie Withers, Carl Kashuk, Aravinda Chakravarti, James R. Lupski, David J. Cutler, Nicholas Katsanis

    Julkaistu 2007
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  15. 15
    Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

    Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia Tekijä M. Leipoldt, Martin Erdel, G. A. Bien-Willner, Marta Smyk, Milan Theurl, SA Yatsenko, J.R. Lupski, AH Lane, AL Shanske, Paweł Stankiewicz, Gerd Scherer

    Julkaistu 2006
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  16. 16
    Two deletions overlapping a distant <i>FOXF1</i> enhancer unravel the role of lncRNA <i>LINC01081</i> in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

    Two deletions overlapping a distant <i>FOXF1</i> enhancer unravel the role of lncRNA <i>LINC01081</i> in etiology of alveolar capillary dysplasia with misalignment of pulmonary vei... Tekijä Przemysław Szafrański, Avinash V. Dharmadhikari, Jennifer Wambach, Chris T. Towe, Frances V. White, R. Mark Grady, Pirooz Eghtesady, F. Sessions Cole, Gail Deutsch, Partha Sen, Paweł Stankiewicz

    Julkaistu 2014
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  17. 17
    A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

    A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human Tekijä Partha Sen, Romana Gerychová, Petr Janků, Marta Ježová, Iveta Valášková, C. Navarro, Iris A. L. Silva, Claire Langston, Stephen E. Welty, John W. Belmont, Paweł Stankiewicz

    Julkaistu 2012
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  18. 18
    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders Tekijä Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, Moshe Frydman, Susan Winter, Robert S. Zeller, Dima El‐Khechen, Luis Escobar, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    Julkaistu 2012
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  19. 19
    Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

    Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia Tekijä Gopalrao V.N. Velagaleti, Gabriel A. Bien‐Willner, Jill K. Northup, Lillian H. Lockhart, Judy C. Hawkins, Syed M. Jalal, Marjorie Withers, James R. Lupski, Paweł Stankiewicz

    Julkaistu 2005
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  20. 20
    The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats

    The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats Tekijä Aikaterini Barbouti, Paweł Stankiewicz, Chad Nusbaum, Christina A. Cuomo, April Cook, Mattias Höglund, Bertil Johansson, Anne Hagemeijer, Sung Sup Park, Felix Mitelman, James R. Lupski, Thoas Fioretos

    Julkaistu 2004
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