يعرض 1 - 10 نتائج من 61 نتيجة بحث عن '"Gass, Jennifer M."', وقت الاستعلام: 1.27s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

    المؤلفون: Rutherford, Nicola J, Zhang, Yong-Jie, Baker, Matt, Gass, Jennifer M, Finch, Nicole A, Xu, Ya-Fei, Stewart, Heather, Kelley, Brendan J, Kuntz, Karen, Crook, Richard JP, Sreedharan, Jemeen, Vance, Caroline, Sorenson, Eric, Lippa, Carol, Bigio, Eileen H, Geschwind, Daniel H, Knopman, David S, Mitsumoto, Hiroshi, Petersen, Ronald C, Cashman, Neil R, Hutton, Mike, Shaw, Christopher E, Boylan, Kevin B, Boeve, Bradley, Graff-Radford, Neill R, Wszolek, Zbigniew K, Caselli, Richard J, Dickson, Dennis W, Mackenzie, Ian R, Petrucelli, Leonard, Rademakers, Rosa

    المصدر: PLoS genetics. 4(9)

    مصطلحات موضوعية: Cell Line, Tumor, Humans, Amyotrophic Lateral Sclerosis, Neurodegenerative Diseases, DNA-Binding Proteins, Cohort Studies, Pedigree, DNA Mutational Analysis, Mutation, Missense, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, and over, Cell Line, Tumor, Mutation, Missense, Genetics, Developmental Biology

    وصف الملف: application/pdf

    الوصول الحر: https://escholarship.org/uc/item/31n233jnTest

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  2. 2
    دورية أكاديمية
    Twelve-Year Survival in a Patient With Systemic Sclerosis–Associated Pulmonary Arterial Hypertension on Nifedipine Monotherapy

    المؤلفون: Helgeson, Scott A., Enderby, Cher Y., Moss, John E., Gass, Jennifer M., Zeiger, Tonya K., Burger, Charles D.

    المصدر: Mayo Clinic Proceedings: Innovations, Quality & Outcomes ; volume 3, issue 3, page 376-379 ; ISSN 2542-4548

    الإتاحة: https://doi.org/10.1016/j.mayocpiqo.2019.06.002Test
    https://api.elsevier.com/content/article/PII:S254245481930075X?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S254245481930075X?httpAccept=text/plainTest

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  3. 3
    دورية أكاديمية
    Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.

    المؤلفون: Coleman, Jessica A Cooley, Gass, Jennifer M, Srikanth, Sujata, Pauly, Rini, Ziats, Catherine A, Everman, David B, Skinner, Steven A, Bell, Shannon, Louie, Raymond J, Cascio, Lauren, Patterson, Wesley G, Jones, Julie R, Donato, Nataliya Di, Stevenson, Roger E, Boccuto, Luigi

    المصدر: Human Molecular Genetics; May2023, Vol. 32 Issue 9, p1457-1465, 9p

    النص الكامل

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  4. 4
    دورية أكاديمية
    Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

    المؤلفون: DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A., Atwal, Paldeep S.

    وصف الملف: text

    العلاقة: http://eprints.gla.ac.uk/216572/1/216572.pdfTest; DeMeo, N. N., Burgess, J. D., Blackburn, P. R., Gass, J. M., Richter, J., Atwal, H. K., van Gerpen, J. A. and Atwal, P. S. (2018) Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. Clinical Case Reports , 6(1), pp. 8-13. (doi:10.1002/ccr3.1265 ) (PMID:29375828) (PMCID:PMC5771904)

    الإتاحة: https://doi.org/10.1002/ccr3.1265Test
    http://eprints.gla.ac.uk/216572Test/
    http://eprints.gla.ac.uk/216572/1/216572.pdfTest

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  5. 5
    دورية أكاديمية
    Whole exome sequencing and molecular modeling of a missense variant in TNFAIP3 that segregates with disease in a family with chronic urticaria and angioedema

    المؤلفون: Harris, Antoneicka L., Blackburn, Patrick R., Richter, John E., Gass, Jennifer M., Caulfield, Thomas R., Mohammad, Ahmed N., Atwal, Paldeep S.

    وصف الملف: text

    العلاقة: http://eprints.gla.ac.uk/216574/1/216574.pdfTest; Harris, A. L., Blackburn, P. R., Richter, J. E., Gass, J. M., Caulfield, T. R., Mohammad, A. N. and Atwal, P. S. (2018) Whole exome sequencing and molecular modeling of a missense variant in TNFAIP3 that segregates with disease in a family with chronic urticaria and angioedema. Case Reports in Genetics , 2018, 6968395. (doi:10.1155/2018/6968395 ) (PMID:29682366) (PMCID:PMC5842716)

    الإتاحة: https://doi.org/10.1155/2018/6968395Test
    http://eprints.gla.ac.uk/216574Test/
    http://eprints.gla.ac.uk/216574/1/216574.pdfTest

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  6. 6
    دورية أكاديمية
    Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

    المؤلفون: Blackburn, Patrick R., Xu, Zhi, Tumelty, Kathleen E., Zhao, Rose W., Monis, William J., Harris, Kimberly G., Gass, Jennifer M., Cousin, Margot A., Boczek, Nicole J., Mitkov, Mario V., Cappel, Mark A., Francomano, Clair A., Parisi, Joseph E., Klee, Eric W., Faqeih, Eissa, Alkuraya, Fowzan S., Layne, Matthew D., McDonnell, Nazli B., Atwal, Paldeep S.

    المساهمون: Mayo Clinic Center for Individualized Medicine (CIM) through the CIM Investigative and Functional Genomics Program, Intramural Research Program of the National Institutes of Health, National Institute on Aging, The American Heart Association, NIH, UROP award from Boston University, Saudi Human Genome Program

    المصدر: The American Journal of Human Genetics ; volume 102, issue 4, page 696-705 ; ISSN 0002-9297

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1016/j.ajhg.2018.02.018Test
    https://api.elsevier.com/content/article/PII:S0002929718300636?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0002929718300636?httpAccept=text/plainTest

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  7. 7
    دورية أكاديمية
    A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

    المؤلفون: Lara-Velazquez, Montserrat, Perdomo-Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R., Atwal, Paldeep S.

    وصف الملف: text

    العلاقة: http://eprints.gla.ac.uk/222203/1/222203.pdfTest; Lara-Velazquez, M., Perdomo-Pantoja, A., Blackburn, P. R., Gass, J. M., Caulfield, T. R. and Atwal, P. S. (2017) A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency. Molecular Genetics and Genomic Medicine , 5(6), pp. 781-787. (doi:10.1002/mgg3.322 ) (PMID:29178636) (PMCID:PMC5702577)

    الإتاحة: https://doi.org/10.1002/mgg3.322Test
    http://eprints.gla.ac.uk/222203Test/
    http://eprints.gla.ac.uk/222203/1/222203.pdfTest

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  8. 8
    دورية أكاديمية
    Late onset asymptomatic pancreatic neuroendocrine tumor – a case report on the phenotypic expansion for MEN1

    المؤلفون: Kaiwar, Charu, Macklin, Sarah K., Gass, Jennifer M., Jackson, Jessica, Klee, Eric W., Hines, Stephanie L., Stauffer, John A., Atwal, Paldeep S.

    وصف الملف: text

    العلاقة: http://eprints.gla.ac.uk/222202/1/222202.pdfTest; Kaiwar, C., Macklin, S. K., Gass, J. M., Jackson, J., Klee, E. W., Hines, S. L., Stauffer, J. A. and Atwal, P. S. (2017) Late onset asymptomatic pancreatic neuroendocrine tumor – a case report on the phenotypic expansion for MEN1. Hereditary Cancer in Clinical Practice , 15, 10. (doi:10.1186/s13053-017-0070-0 ) (PMID:28736585) (PMCID:PMC5521080)

    الإتاحة: https://doi.org/10.1186/s13053-017-0070-0Test
    http://eprints.gla.ac.uk/222202Test/
    http://eprints.gla.ac.uk/222202/1/222202.pdfTest

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  9. 9
    دورية أكاديمية
    Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

    المؤلفون: Blackburn, Patrick R., Selcen, Duygu, Gass, Jennifer M., Jackson, Jessica L., Macklin, Sarah, Cousin, Margot A., Boczek, Nicole J., Klee, Eric W., Dimberg, Elliot L., Kennelly, Kathleen D., Atwal, Paldeep S.

    المساهمون: Mayo Clinic

    المصدر: Molecular Genetics & Genomic Medicine ; volume 5, issue 3, page 295-302 ; ISSN 2324-9269 2324-9269

    الإتاحة: https://doi.org/10.1002/mgg3.280Test

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  10. 10
    دورية أكاديمية
    Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

    المؤلفون: DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A., Atwal, Paldeep S.

    المصدر: Clinical Case Reports ; volume 6, issue 1, page 8-13 ; ISSN 2050-0904 2050-0904

    الإتاحة: https://doi.org/10.1002/ccr3.1265Test

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