Search Results - McDonald, Marie T.

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  1. 1
    Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

    Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood by Patel, Bimal, Pendyal, Surekha, Kishnani, Priya S., McDonald, Marie, Bailey, Lauren

    Published 2017
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  2. 2
    Identification of EPCAM mutation: clinical use of microarray

    Identification of EPCAM mutation: clinical use of microarray by Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.

    Published 2017
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  3. 3
    Physical activity and sedentary behaviour and their associations with clinical measures in axial spondyloarthritis

    Physical activity and sedentary behaviour and their associations with clinical measures in axial spondyloarthritis by Coulter, Elaine H., McDonald, Marie Therese, Cameron, Sara, Siebert, Stefan, Paul, Lorna

    Published 2019
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  4. 4
    A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

    A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness by Coppola, Tiziana, Becken, Bradford, Van Mater, Heather, McDonald, Marie Theresa, Panayotti, Gabriela Maradiaga

    Published 2019
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  5. 5
    An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

    An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome by Williams, Jason L., McDonald, Marie T., Seifert, Bryce A., Deak, Kristen L., Rehder, Catherine W., Campbell, Michael J.

    Published 2021
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  6. 6
    An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

    An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy by Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Shankar, Suma P, Schiffmann, Raphael, Chang, Peter, Shen, Yinghua, Pano, Arian

    Published 2016
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  7. 7
    Clinical application of exome sequencing in undiagnosed genetic conditions

    Clinical application of exome sequencing in undiagnosed genetic conditions by Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B

    Published 2012
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  8. 8
    Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

    Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutar... by Prasun, Pankaj, Young, Sarah, Salomons, Gajja, Werneke, Andrea, Jiang, Yong-hui, Struys, Eduard, Paige, Mikell, Avantaggiati, Maria Laura, McDonald, Marie

    Published 2015
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  9. 9
    A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled with Stimulant Therapy

    A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled with Stimulant Therapy by Zhang, Guohui, Gibson, Rebecca A., McDonald, Marie, Liang, Pengfei, Kang, Po Wei, Shi, Jingyi, Yang, Huanghe, Cui, Jianmin, Mikati, Mohamad A.

    Published 2020
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  10. 10
    Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation

    Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited P... by Gururangan, Sridharan, Frankel, Wendy, Broaddus, Russell, Clendenning, Mark, Senter, Leigha, McDonald, Marie, Eastwood, James, Reardon, David, Vredenburgh, James, Quinn, Jennifer, Friedman, Henry S.

    Published 2008
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  11. 11
    Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant

    Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant by Moss, Tonya, May, Melanie, Flanagan-Steet, Heather, Caylor, Raymond, Jiang, Yong-Hui, McDonald, Marie, Friez, Michael, McConkie-Rosell, Allyn, Steet, Richard

    Published 2021
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  12. 12
    Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

    Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies by Khan, Tahir N., Khan, Kamal, Sadeghpour, Azita, Reynolds, Hannah, Perilla, Yezmin, McDonald, Marie T., Gallentine, William B., Baig, Shahid M., Davis, Erica E., Katsanis, Nicholas

    Published 2019
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  13. 13
    Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

    Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses by Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana

    Published 2020
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  14. 14
    Early Onset Severe ATP1A2 Epileptic Encephalopathy: Clinical Characteristics and Underlying Mutations

    Early Onset Severe ATP1A2 Epileptic Encephalopathy: Clinical Characteristics and Underlying Mutations by Moya-Mendez, Mary E., Mueller, David M., Pratt, Milton, Bonner, Melanie, Elliott, Courtney, Hunanyan, Arsen, Kucera, Gary, Bock, Cheryl, Prange, Lyndsey, Jasien, Joan, Keough, Karen, Shashi, Vandana, McDonald, Marie, Mikati, Mohamad A.

    Published 2021
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  15. 15
    CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

    CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age by Mizumoto, Shuji, Janecke, Andreas R., Sadeghpour, Azita, Povysil, Gundula, McDonald, Marie T., Unger, Sheila, Greber‐Platzer, Susanne, Deak, Kristen L., Katsanis, Nicholas, Superti‐Furga, Andrea, Sugahara, Kazuyuki, Davis, Erica E., Yamada, Shuhei, Vodopiutz, Julia

    Published 2019
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  16. 16
    Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

    Biallelic mutations in FDXR cause neurodegeneration associated with inflammation by Slone, Jesse, Peng, Yanyan, Chamberlin, Adam, Harris, Belinda, Kaylor, Julie, McDonald, Marie T., Lemmon, Monica, El-Dairi, Mays Antonine, Tchapyjnikov, Dmitry, Gonzalez-Krellwitz, Laura A, Sellars, Elizabeth A., McConkie-Rosell, Allyn, Reinholdt, Laura G., Huang, Taosheng

    Published 2018
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  17. 17
    Novel Pathogenic Variants in FOXP3 in Fetuses with Echogenic Bowel and Skin Desquamation Identified by Ultrasound

    Novel Pathogenic Variants in FOXP3 in Fetuses with Echogenic Bowel and Skin Desquamation Identified by Ultrasound by Louie, Raymond J., Tan, Queenie K.-G., Gilner, Jennifer B., Rogers, R. Curtis, Younge, Noelle, Wechsler, Stephanie B., McDonald, Marie T., Gordon, Barbara, Saski, Christopher A., Jones, Julie R., Chapman, Shelley J., Stevenson, Roger E., Sleasman, John W., Friez, Michael J.

    Published 2017
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  18. 18
    A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

    A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay by Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.

    Published 2021
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  19. 19
    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture by Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.

    Published 2010
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  20. 20
    Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

    Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication by Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G

    Published 2008
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