Tetrasomy 13q Mosaicism Associated With Phylloid Hypomelanosis and Precocious Puberty

Autor Dhar, Shweta U., Robbins-Furman, Patricia, Levy, Moise L., Patel, Ankita, Scaglia, Fernando
Vydáno 2009

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

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

Cover

Autor Grygiel, Alyssa, Ikolo, Felicia, Stephen, Raphielle, Bleasdille, Dawnell, Robbins‐Furman, Patricia, Nelson, Beverly, Sobering, Andrew K., Elsea, Sarah H.
Vydáno v Mol Genet Genomic Med (2021)

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

Autor Grygiel, Alyssa, Ikolo, Felicia, Stephen, Raphielle, Bleasdille, Dawnell, Robbins‐Furman, Patricia, Nelson, Beverly, Sobering, Andrew K., Elsea, Sarah H.
Vydáno v Mol Genet Genomic Med (2020)

Cardiovascular findings in duplication 17p11.2 syndrome

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

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

Autor 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
Vydáno 2010

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

Autor 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.
Vydáno 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

Autor 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.
Vydáno 2007