Search Results - "Clough, Mark V."

Effectiveness of the Women’s Lacrosse Protective Eyewear Mandate in the Reduction of Eye Injuries by Lincoln, Andrew E., Caswell, Shane V., Almquist, Jon L., Dunn, Reginald E., Clough, Mark V., Dick, Randall W., Hinton, Richard Y.

“…Background: In an effort to minimize the risk of catastrophic eye injury, US Lacrosse initiated mandatory use of protective eyewear in women’s lacrosse in the…”
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Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients by McIntosh, Iain, Dreyer, Sandra D., Clough, Mark V., Dunston, Jennifer A., Eyaid, Wafa'a, Roig, Carmen M., Montgomery, Tara, Ala-Mello, Sirpa, Kaitila, Ilkka, Winterpacht, Andreas, Zabel, Bernhard, Frydman, Moshe, Cole, William G., Francomano, Clair A., Lee, Brendan

“…Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS…”
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Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients by Clough, Mark V., Hamlington, Jeanette D., McIntosh, Iain

“…Nail‐patella syndrome (NPS) is a pleiotropic condition characterized by dysplasia of the nails, hypoplasia of the patellae, elbow dysplasia, and progressive…”
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Restricted distribution of loss-of-function mutations within theLMX1B genes of nail-patella syndrome patients by Clough, Mark V., Hamlington, Jeanette D., McIntosh, Iain

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Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome by Hamlington, J D, Clough, M V, Dunston, J A, McIntosh, I

“…Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B. In a large NPS family a 17 bp…”
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Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella Syndrome by Vollrath, Douglas, Jaramillo-Babb, Virna L., Clough, Mark V., McIntosh, Iain, Scott, Kathleen M., Lichter, Paul R., Richards, Julia E.

“…Nail-patella syndrome (NPS) is an inherited developmental disorder most commonly involving maldevelopment of the fingernails, kneecaps and elbow joints. NPS…”
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Fine mapping of the nail-patella syndrome locus at 9q34 by MCINTOSH, I, CLOUGH, M. V, KWIATKOWSKI, D. J, PYERITZ, R. E, BROWN, L. J, PAULI, R. M, MCCORMICK, M. K, FRANCOMANO, C. A, SCHÄFFER, A. A, PUFFENBERGER, E. G, HORTON, V. K, PETERS, K, ABBOTT, M. H, ROIG, C. M, CUTONE, S, OZELIUS, L

“…Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic…”
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Prenatal diagnosis of nail-patella syndrome by McIntosh, Iain, Clough, Mark V., Gak, Eva, Frydman, Moshe

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Physical mapping of the nail patella syndrome interval at 9q34 : Ordering of STSs and ESTs by EYAID, W. M, CLOUGH, M. V, MCINTOSH, I, ROOT, H, SCOTT, K. M, MCCORMICK, M. K, XUE ZHANG, LISITSYN, N. A, KEARNS, W. G, FRANCOMANO, C. A, RICHARDS, J. E

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Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12) by Cargile, Colyn B., McIntosh, Iain, Clough, Mark V., Rutberg, Julie, Yaghmai, Reza, Goodman, Barbara K., Chen, Xiao-Ning, Korenberg, Julie R., Thomas, George H., Geraghty, Michael T.

“…The relationship of delayed membranous cranial ossification to cranium bifidum and parietal foramina syndromes is unclear. We report on a family with delayed…”
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