Tetrasomy 13q Mosaicism Associated With Phylloid Hypomelanosis and Precocious Puberty

Por Dhar, Shweta U., Robbins-Furman, Patricia, Levy, Moise L., Patel, Ankita, Scaglia, Fernando
Publicado em 2009

Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked Oculo-Facio-Cardio-Dental syndrome in a girl

Por Jiang, Yong-hui, Fang, Ping, Adesina, Adekunle M., Furman, Patricia, Johnston, Jennifer J., Biesecker, Leslie G., Brown, Chester W.
Publicado em 2009

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Por Grygiel, Alyssa, Ikolo, Felicia, Stephen, Raphielle, Bleasdille, Dawnell, Robbins‐Furman, Patricia, Nelson, Beverly, Sobering, Andrew K., Elsea, Sarah H.
Publicado no Mol Genet Genomic Med (2021)

Sickle cell disease in Grenada: Quality of life and barriers to care

Por Grygiel, Alyssa, Ikolo, Felicia, Stephen, Raphielle, Bleasdille, Dawnell, Robbins‐Furman, Patricia, Nelson, Beverly, Sobering, Andrew K., Elsea, Sarah H.
Publicado no Mol Genet Genomic Med (2020)

Cardiovascular findings in duplication 17p11.2 syndrome

Por Jefferies, John L., Pignatelli, Ricardo H., Martinez, Hugo R., Robbins-Furman, Patricia J., Liu, Pengfei, Gu, Wenli, Lupski, James R., Potocki, Lorraine
Publicado em 2011

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

Por 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
Publicado em 2010

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

Por 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.
Publicado em 2010

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Por Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M. B., Eifert, Anna, Friedman, Ellen M., Glaze, Daniel, Krull, Kevin, Lee, Jennifer A., Lewis, Richard Alan, Mendoza-Londono, Roberto, Robbins-Furman, Patricia, Shaw, Chad, Shi, Xin, Weissenberger, George, Withers, Marjorie, Yatsenko, Svetlana A., Zackai, Elaine H., Stankiewicz, Pawel, Lupski, James R.
Publicado em 2007