Search Results - "Pentao, L"

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 by Chance, P F, Abbas, N, Lensch, M W, Pentao, L, Roa, B B, Patel, P I, Lupski, J R

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is a common autosomal dominant demyelinating neuropathy that is associated with a 1.5 megabase (Mb) tandem DNA…”
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element by Reiter, Lawrence T, Murakami, Tatsufumi, Koeuth, Thearith, Pentao, Liu, Muzny, Donna M, Gibbs, Richard A, Lupski, James R

“…The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP) deletion are reciprocal…”
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A by Lupski, J R, de Oca-Luna, R M, Slaugenhaupt, S, Pentao, L, Guzzetta, V, Trask, B J, Saucedo-Cardenas, O, Barker, D F, Killian, J M, Garcia, C A, Chakravarti, A, Patel, P I

“…Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval…”
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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit by Pentao, Liu, Wise, Carol A, Chinault, A. Craig, Patel, Pragna I, Lupski, James R

“…We have constructed a 3.1 megabase (Mb) physical map of chromosome 17p11.2-p12, which contains a submicroscopic duplication in patients with…”
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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication by Wise, C.A., Davis, S.N., Heju, Z., Pentao, L., Patel, P.I., Lupski, J.R., Garcia, C.A.

“…Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. One form of CMT, CMT type 1A, is characterized by uniformly decreased…”
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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A by Patel, Pragna I, Roa, Benjamin B, Welcher, Andrew A, Schoener-Scott, Raymond, Trask, Barbara J, Pentao, Liu, Snipes, G. Jackson, Garcia, Carlos A, Francke, Uta, Shooter, Eric M, Lupski, James R, Suter, Ueli

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a large DNA duplication on the short arm of human…”
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Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A by Lupski, James R, Wise, Carol A, Kuwano, Akira, Pentao, Liu, Parke, Julie T, Glaze, Daniel G, Ledbetter, David H, Greenberg, Frank, Patel, Pragna I

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy in humans, characterized electrophysiologically by decreased…”
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Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A by Roa, Benjamin B, Garcia, Carlos A, Pentao, Liu, Killian, James M, Trask, Barbara J, Suter, Ueli, Snipes, G. Jackson, Ortiz-Lopez, Rocio, Shooter, Eric M, Patel, Pragna I, Lupski, James R

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant neuropathy that can be caused by dominant point mutations in PMP22 which encodes a…”
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Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1 by Lupski, J R, Pentao, L, Williams, L L, Patel, P I

“…Charcot-Marie-Tooth disease type 1A (CMT1A) was recently demonstrated to be associated with a large DNA duplication in 17p11.2p12. The gene for…”
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Maternal uniparental isodisomy of chromosome 14 : association with autosomal recessive rod monochromacy by PENTAO, L, LEWIS, R. A, LEDBETTER, D. H, PATEL, P. I, LUPSKI, J. R

“…Rod monochromacy (complete congenital achromatopsia) is inherited as an autosomal recessive trait of unknown genetic location. The disorder is characterized by…”
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element by Reiter, Lawrence, Murakami, Tatsufumi, Koeuth, Thearith, Pentao, Liu, Muzny, Donna, Gibbs, Richard, Lupski, James

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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication by WISE, C. A, GARCIA, C. A, DAVIS, S. N, ZHANG-HEJU, LIU PENTAO, PATEL, P. I, LUPSKI, J. R

“…Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. One form of CMT, CMT type 1A, is characterized by uniformly decreased…”
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