Hasil Pencarian - James R. Lupski

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  1. 1
    Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

    Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. oleh James R Lupski, Pawel Stankiewicz

    Diterbitkan 2005-12-01
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  2. 2
    Animal models for human contiguous gene syndromes and other genomic disorders

    Animal models for human contiguous gene syndromes and other genomic disorders oleh Katherina Walz, Patricia Fonseca, James R. Lupski

    Diterbitkan 2004-01-01
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  3. 3
    A microhomology-mediated break-induced replication model for the origin of human copy number variation.

    A microhomology-mediated break-induced replication model for the origin of human copy number variation. oleh P J Hastings, Grzegorz Ira, James R Lupski

    Diterbitkan 2009-01-01
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  4. 4
    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome oleh Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Anna Lindstrand, Anna Lindstrand, Claudia M. B. Carvalho, Claudia M. B. Carvalho

    Diterbitkan 2021-08-01
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  5. 5
    Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization

    Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization oleh Bo Yuan, Pengfei Liu, Jeffrey Rogers, James R. Lupski

    Diterbitkan 2016-06-01
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  6. 6
    Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus

    Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus oleh Alejandro Nieto-Patlán, Natalia S. Fernández Dávila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry, James R. Lupski, James R. Lupski, James R. Lupski, Steven M. Holland, Bo Yuan, Douglas B. Kuhns, Tiphanie P. Vogel, Ivan K. Chinn

    Diterbitkan 2024-08-01
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  7. 7
    CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

    CRISPR/Cas9-induced gene conversion between ATAD3 paralogs oleh Shira Yanovsky-Dagan, Ayala Frumkin, James R. Lupski, Tamar Harel

    Diterbitkan 2022-04-01
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  8. 8
    Ten years of Genome Medicine

    Ten years of Genome Medicine oleh Charles Auffray, Julian L. Griffin, Muin J. Khoury, James R. Lupski, Matthias Schwab

    Diterbitkan 2019-02-01
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  9. 9
    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome oleh Alejandra Aird, Macarena Lagos, Macarena Lagos, Alexander Vargas-Hernández, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Shalini Jhangiani, Emily M. Mace, Anaid Reyes, Alejandra King, Felipe Cavagnaro, Lisa R. Forbes, Ivan K. Chinn, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Maria Cecilia Poli, Maria Cecilia Poli

    Diterbitkan 2019-07-01
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  10. 10
    Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

    Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168 oleh Ivan K. Chinn, Ivan K. Chinn, Ivan K. Chinn, Robert P. Sanders, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Zeynep H. Coban-Akdemir, Zeynep H. Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Harjit Dadi, Chaim M. Roifman, Chaim M. Roifman, Troy Quigg, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Jordan S. Orange, Jordan S. Orange, I. Celine Hanson, I. Celine Hanson

    Diterbitkan 2017-05-01
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  11. 11
    Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

    Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. oleh Emily Outwin, Gillian Carpenter, Weimin Bi, Marjorie A Withers, James R Lupski, Mark O'Driscoll

    Diterbitkan 2011-08-01
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  12. 12
    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature oleh Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Zeynep Coban-Akdemir, Bo Yuan, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, Lindsay C. Burrage, James R. Lupski, James R. Lupski, James R. Lupski, Ivan K. Chinn, Ivan K. Chinn, Tiphanie P. Vogel, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli, M. Cecilia Poli, M. Cecilia Poli

    Diterbitkan 2021-05-01
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  13. 13
    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders oleh Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir

    Diterbitkan 2024-04-01
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  14. 14
    Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

    Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders oleh Tugce Bozkurt‑Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban‑Akdemir

    Diterbitkan 2024-08-01
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  15. 15
    Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING

    Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING oleh Hiroyasu Konno, Ivan K. Chinn, Diana Hong, Jordan S. Orange, James R. Lupski, Alejandra Mendoza, Luis A. Pedroza, Glen N. Barber

    Diterbitkan 2018-04-01
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  16. 16
    Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

    Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. oleh Guénola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I Young, James R Lupski, Alexandre Reymond, Katherina Walz

    Diterbitkan 2010-11-01
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  17. 17
    Population bottlenecks as a potential major shaping force of human genome architecture.

    Population bottlenecks as a potential major shaping force of human genome architecture. oleh Adrian Gherman, Peter E Chen, Tanya M Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, Aravinda Chakravarti, James R Lupski, David J Cutler, Nicholas Katsanis

    Diterbitkan 2007-07-01
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  18. 18
    A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.

    A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. oleh Melanie Lacaria, Pradip Saha, Lorraine Potocki, Weimin Bi, Jiong Yan, Santhosh Girirajan, Brooke Burns, Sarah Elsea, Katherina Walz, Lawrence Chan, James R Lupski, Wenli Gu

    Diterbitkan 2012-01-01
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  19. 19
    Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

    Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. oleh Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M B Carvalho, James R Lupski, Elfride De Baere

    Diterbitkan 2013-01-01
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  20. 20
    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy oleh Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski

    Diterbitkan 2019-09-01
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