Search Results - Potocki, Lorraine

Lorraine Potocki

Lorraine Potocki (born August 18, 1961) is a medical geneticist and educator at Texas Children's Hospital and is a professor at Baylor College of Medicine.

She is credited with the discovery of two genetic syndromes, Potocki-Lupski syndrome and Potocki-Shaffer syndrome. Provided by Wikipedia
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  1. 1
    Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

    Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes by Neira-Fresneda, Juanita, Potocki, Lorraine

    Published 2015
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  2. 2
    The Severe End of the Spectrum: Hypoplastic Left Heart in Potocki-Lupski syndrome

    The Severe End of the Spectrum: Hypoplastic Left Heart in Potocki-Lupski syndrome by Sanchez-Valle, Amarilis, Pierpont, Mary Ella, Potocki, Lorraine

    Published 2011
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  3. 3
    Holoprosencephaly in an 8.5-week triploidy gestation

    Holoprosencephaly in an 8.5-week triploidy gestation by Solomon, Benjamin D., Potocki, Lorraine, Oyer, Calvin E., Muenke, Maximilian

    Published 2009
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  4. 4
    A Systematic Analysis of Human Disease-Associated Gene Sequences In Drosophila melanogaster

    A Systematic Analysis of Human Disease-Associated Gene Sequences In Drosophila melanogaster by Reiter, Lawrence T., Potocki, Lorraine, Chien, Sam, Gribskov, Michael, Bier, Ethan

    Published 2001
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  5. 5
    Objective Measures of Sleep Disturbances in Children with Potocki-Lupski Syndrome

    Objective Measures of Sleep Disturbances in Children with Potocki-Lupski Syndrome by Kaplan, Kevin, McCool, Caroline, Lupski, James R., Glaze, Daniel, Potocki, Lorraine

    Published 2019
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  6. 6
    Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

    Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability by Thomas, Elizabeth, Lewis, Andrea M., Yang, Yaping, Chanprasert, Sirisak, Potocki, Lorraine, Scott, Daryl A.

    Published 2019
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  7. 7
    Triploidy Mosaicism (45,X/68,XX) in an Infant Presenting with Failure to Thrive

    Triploidy Mosaicism (45,X/68,XX) in an Infant Presenting with Failure to Thrive by Posey, Jennifer E., Mohrbacher, Nikki, Smith, Janice L., Patel, Ankita, Potocki, Lorraine, Breman, Amy M.

    Published 2015
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  8. 8
    Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

    Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome by Wu, Yuan-Qing, Badano, Jose L., McCaskill, Christopher, Vogel, Hannes, Potocki, Lorraine, Shaffer, Lisa G.

    Published 2000
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  9. 9
    Abnormal Circadian Rhythm of Melatonin in Smith-Magenis Syndrome Patients with RAI1 Point Mutations

    Abnormal Circadian Rhythm of Melatonin in Smith-Magenis Syndrome Patients with RAI1 Point Mutations by Boone, Philip M., Reiter, Russel J., Glaze, Daniel G., Tan, Dun-Xian, Lupski, James R., Potocki, Lorraine

    Published 2011
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  10. 10
    Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

    Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation by Mendiratta, Meenal S, Yang, Yaping, Balazs, Andrea E, Willis, Alecia S, Eng, Christine M, Karaviti, Lefkothea P, Potocki, Lorraine

    Published 2011
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  11. 11
    Short Stature and Growth Hormone Deficiency in a Subset of Patients with Potocki-Lupski syndrome: Expanding the Phenotype of PTLS

    Short Stature and Growth Hormone Deficiency in a Subset of Patients with Potocki-Lupski syndrome: Expanding the Phenotype of PTLS by Franciskovich, Rachel, Soler-Alfonso, Claudia, Neira-Fresneda, Juanita, Lupski, James R., McCann-Crosby, Bonnie, Potocki, Lorraine

    Published 2020
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  12. 12
    Cardiovascular findings in duplication 17p11.2 syndrome

    Cardiovascular findings in duplication 17p11.2 syndrome by Jefferies, John L., Pignatelli, Ricardo H., Martinez, Hugo R., Robbins-Furman, Patricia J., Liu, Pengfei, Gu, Wenli, Lupski, James R., Potocki, Lorraine

    Published 2011
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  13. 13
    Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy

    Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy by Yuan, Bo, Neira, Juanita, Gu, Shen, Harel, Tamar, Liu, Pengfei, Briceño, Ignacio, Elsea, Sarah H., Gómez, Alberto, Potocki, Lorraine, Lupski, James R.

    Published 2016
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  14. 14
    Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?

    Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? by Brunetti-Pierri, Nicola, Piccolo, Pasquale, Morava, Eva, Wevers, Ron A., McGuirk, Megan, Johnson, Yvette R., Urban, Zsolt, Dishop, Megan K., Potocki, Lorraine

    Published 2011
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  15. 15
    Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

    Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive by Soler-Alfonso, Claudia, Motil, Kathleen J., Turk, Catherine L., Robbins-Furman, Patricia, Friedman, Ellen M., Zhang, Feng, Lupski, James R., Fraley, J. Kennard, Potocki, Lorraine

    Published 2010
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  16. 16
    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 by Lacaria, Melanie, Saha, Pradip, Potocki, Lorraine, Bi, Weimin, Yan, Jiong, Girirajan, Santhosh, Burns, Brooke, Elsea, Sarah, Walz, Katherina, Chan, Lawrence, Lupski, James R., Gu, Wenli

    Published 2012
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  17. 17
    Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B cell dysfunction in patients with Smith- Magenis syndrome (SMS)

    Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B cell dysfunction in patients with Smith- Magenis syndrome (SMS) by Chinen, Javier, Martinez-Gallo, Monica, Gu, Wenli, Cols, Montserrat, Cerutti, Andrea, Radigan, Lin, Zhang, Li, Potocki, Lorraine, Withers, Marjorie, Lupski, James R., Cunningham-Rundles, Charlotte

    Published 2011
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  18. 18
    Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

    Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans by Gofin, Yoel, Mackay, Laura Palmer, Machol, Keren, Keswani, Sundeep, Potocki, Lorraine, Di Gregorio, Eleonora, Naretto, Valeria Giorgia, Brusco, Alfredo, Hernandez-Garcia, Andres, Scott, Daryl A.

    Published 2021
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  19. 19
    Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

    Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse by Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., Potocki, Lorraine, Shaffer, Lisa G., Devriendt, Koen, Nowaczyk, Małgorzata J.M., Inoue, Ken, Lupski, James R.

    Published 2002
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  20. 20
    Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

    Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS by Zhang, Feng, Potocki, Lorraine, Sampson, Jacinda B., Liu, Pengfei, Sanchez-Valle, Amarilis, Robbins-Furman, Patricia, Navarro, Alicia Delicado, Wheeler, Patricia G., Spence, J. Edward, Brasington, Campbell K., Withers, Marjorie A., Lupski, James R.

    Published 2010
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