Хайлтын үр дүнгүүд - Potocki, Lorraine

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive -н 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

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A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men -н 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

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

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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans -н 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.

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

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

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