Search Results - "Linck, Leesa"

Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production by Steiner, R D, Linck, L M, Flavell, D P, Lin, D S, Connor, W E

“…The Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/mental retardation syndrome caused by a deficiency of the enzyme 7-dehydrocholesterol…”
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Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome by Merkens, Louise S, Connor, William E, Linck, Leesa M, Lin, Don S, Flavell, Donna P, Steiner, Robert D

“…Smith-Lemli-Opitz syndrome is a condition of impaired cholesterol synthesis that is caused by mutations in DHCR7 encoding 7-dehydrocholesterol-Delta7…”
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Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm by Boyd, Luke J., Livingston, Joseph S., Brown, Michael G., Lawce, Helen J., Gilhooly, Joseph T., Wildin, Robert S., Linck, Leesa M., Magenis, R. Ellen, Pillers, De‐Ann M.

“…Meiotic recombination occurs between homologous euchromatic regions of human chromosomes in early meiosis. However, such exchanges have been thought not to…”
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Cervical cancer screening in an urban emergency department by Hogness, C G, Engelstad, L P, Linck, L M, Schorr, K A

“…To determine the feasibility of Pap screening and follow-up of urban emergency department patients and the prevalence of cervical dysplasia and carcinoma in…”
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Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications by Grams, Sarah E., Argiropoulos, Bob, Lines, Matthew, Chakraborty, Pranesh, Mcgowan-Jordan, Jean, Geraghty, Michael T., Tsang, Marilyn, Eswara, Marthand, Tezcan, Kamer, Adams, Kelly L., Linck, Leesa, Himes, Patricia, Kostiner, Dana, Zand, Dina J., Stalker, Heather, Driscoll, Daniel J., Huang, Taosheng, Rosenfeld, Jill A., Li, Xu, Chen, Emily

“…We report 13 new individuals with duplications in Xp11.22‐p11.23. The index family has one male and two female members in three generations with mild‐severe…”
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Mutations in the human sterol Δ7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome by WASSIF, C. A, MASLEN, C, KACHILELE-LINJEWILE, S, LIN, D, LINCK, L. M, CONNOR, W. E, STEINER, R. D, PORTER, F. D

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2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism by GIBSON, K. M, BURLINGAME, T. G, LINCK, L, POHOWALLA, P, SACKS, M, KISS, D, RINALDO, P, VOCKLEY, J, HOGEMA, B, JAKOBS, C, SCHUTGENS, R. B. H, MILLINGTON, D, ROE, C. R, ROE, D. S, SWEETMAN, L, STEINER, R. D

“…An 4-mo-old male was found to have an isolated increase in 2-methylbutyrylglycine (2-MBG) and 2-methylbutyrylcamitine (2-MBC) in physiologic fluids. In vitro…”
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Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Commentary by MERKENS, Louise S, CONNOR, William E, LINCK, Leesa M, LIN, Don S, FLAVELL, Donna P, STEINER, Robert D, IRONS, Mira B

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Lack of Inhibition of 7-dehydrocholesterol Synthesis with Cholesterol Supplementation in Smith-Lemli-Opitz Syndrome † 737 by Steiner, Robert D, Linck, Leesa M, Lin, Don S, Connor, William E

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Mutations in the Human Sterol Δ 7 -Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome by Wassif, Christopher A., Maslen, Cheryl, Kachilele-Linjewile, Stivelia, Lin, Don, Linck, Leesa M., Connor, William E., Steiner, Robert D., Porter, Forbes D.

“…The Smith-Lemli-Opitz syndrome (SLOS; also known as “RSH syndrome” [MIM 270400]) is an autosomal recessive multiple malformation syndrome due to a defect in…”
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Microcephaly with chorioretinal degeneration by Atchaneeyasakul, La-ongsri, Linck, Leesa, Weleber, Richard G.

“…PURPOSE : To describe the ophthalmologic findings and electroretinograms in patients with microcephaly and chorioretinal degeneration. METHODS : We reviewed…”
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Screening and treatment of chlamydial infections

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Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm by Boyd, Luke J., Livingston, Joseph S., Brown, Michael G., Lawce, Helen J., Gilhooly, Joseph T., Wildin, Robert S., Linck, Leesa M., Magenis, R. Ellen, Pillers, De-Ann M.

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Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome by Atchaneeyasakul, La-Ongsri, Linck, Leesa M., Connor, William E., Weleber, Richard G., Steiner, Robert D.

“…We evaluate the ophthalmologic findings in 8 children with RSH/Smith‐Lemli‐Opitz syndrome (SLOS) and document abnormal concentrations of cholesterol and…”
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