Search Results - "Laney, Dawn A"

The future is now: Technology's impact on the practice of genetic counseling by Gordon, Erynn S., Babu, Deepti, Laney, Dawn A.

“…Smartphones, artificial intelligence, automation, digital communication, and other types of technology are playing an increasingly important role in our daily…”
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Fabry Disease practice resource: Focused revision by Henderson, Nadene, Berry, Lisa, Laney, Dawn A.

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The management and treatment of children with Fabry disease: A United States-based perspective by Hopkin, Robert J., Jefferies, John L., Laney, Dawn A., Lawson, Victoria H., Mauer, Michael, Taylor, Matthew R., Wilcox, William R.

“…Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain,…”
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Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease by Sharma, Gulshan B, Robertson, Douglas D, Laney, Dawn A, Gambello, Michael J, Terk, Michael

“…Abstract Type 1 Gaucher disease (GD) is an autosomal recessive lysosomal storage disease, affecting bone metabolism, structure and strength. Current bone…”
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Fabry disease in infancy and early childhood: a systematic literature review by Laney, Dawn A., Peck, Dawn S., Atherton, Andrea M., Manwaring, Linda P., Christensen, Katherine M., Shankar, Suma P., Grange, Dorothy K., Wilcox, William R., Hopkin, Robert J.

“…Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal…”
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Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy by Warnock, David G, Thomas, Christie P, Vujkovac, Bojan, Campbell, Ruth C, Charrow, Joel, Laney, Dawn A, Jackson, Leslie L, Wilcox, William R, Wanner, Christoph

“…Nephropathy is an important feature of classical Fabry disease, which results in alpha-galactosidase A deficiency and cellular globotriaosylceramide…”
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Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study by Germain, Dominique P., Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C., Kempf, Judy, Laney, Dawn A., Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P., Waldek, Stephen, Wanner, Christoph, Jovanovic, Ana

“…Background The p.Asn215Ser or p.N215S GLA variant has been associated with late‐onset cardiac variant of Fabry disease. Methods To expand on the scarce…”
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FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data by Lobel, Caryn J, Laney, Dawn A, Yang, Jingjing, Jacob, David, Rickheim, Amy, Ogg, Carol Z, Clynes, Diana, Dronen, Jessica

“…Fabry disease (FD) is a rare, X-linked, lysosomal storage disease characterized by great variability in clinical presentation and progressive multisystemic…”
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Validation of a suspicion index to identify patients at risk for hereditary angioedema by Shams, Marissa, Laney, Dawn A., Jacob, Dave A., Yang, Jingjing, Dronen, Jessica, Logue, Amanda, Rosen, Ami, Riedl, Marc

“…Hereditary angioedema (HAE) is a genetic condition characterized by dysregulation of the contact (kallikrein-bradykinin) pathway, leading to recurrent episodes…”
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Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors by Laney, Dawn A., Bennett, Robin L., Clarke, Virginia, Fox, Angela, Hopkin, Robert J., Johnson, Jack, O’Rourke, Erin, Sims, Katherine, Walter, Gerald

“…Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test…”
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Fabry disease and COVID-19: international expert recommendations for management based on real-world experience by Laney, Dawn A, Germain, Dominique P, Oliveira, João Paulo, Burlina, Alessandro P, Cabrera, Gustavo Horacio, Hong, Geu-Ru, Hopkin, Robert J, Niu, Dau-Ming, Thomas, Mark, Trimarchi, Hernán, Wilcox, William R, Politei, Juan Manuel, Ortiz, Alberto

“…The rapid spread of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 has raised questions about Fabry disease (FD)…”
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Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype by Laney, Dawn A., Gupta, Divya, Wechsler, Stephanie B.

“…Purpose of Review The lysosomal storage diseases (LDs) are a group of over 70 inherited metabolic conditions caused by deficiencies in one or more lysosomal…”
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Diagnosis of Fabry Disease via Analysis of Family History by Laney, Dawn A., Fernhoff, Paul M.

“…Fabry disease is an X-linked lysosomal storage condition caused by a deficiency of α-galactosidase A. In order to determine the average number of family…”
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Phenotypic characteristics of the p.Asn215Ser (p.N215S) G LA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study by Germain, Dominique P., Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C., Kempf, Judy, Laney, Dawn A., Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P., Waldek, Stephen, Wanner, Christoph, Jovanovic, Ana

“…BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late‐onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype…”
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Interfamily variability in patients with classical Fabry disease by Laney, Dawn A.

“…Fabry disease (FD) is a X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to insufficient alpha-galactosidase A enzyme…”
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The Impact of Fabry Disease on Reproductive Fitness by Laney, Dawn A., Clarke, Virginia, Foley, Allison, Hall, Eric W., Gillespie, Scott E., Holida, Myrl, Simmons, Morgan, Wadley, Alexandrea

“…Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and…”
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Use of flotation-REST (restricted environmental stimulation technique) therapy in treatment of Fabry disease related pain by Laney, Dawn A., Westhoff, Cynthia

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Sudden, pronounced height increase for adolescent and young adult males with Fabry disease by Laney, Dawn A.

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ThinkGenetic: A pilot project to create an educational website/application providing increased access to information on accurate natural history, diagnosis, and treatment information with treatable genetic disorders to healthcare providers by Laney, Dawn A., Simmons, Morgan

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Possible increased incidence of pathogenic GALC deletions in exons 11–17 causing infantile onset Krabbe disease in individuals from Ahmadabad in the Indian state of Gujarat by Laney, Dawn A., Black, Emily, Russo, Rossana Sanchez

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