Variable phenotypic expression of a MECP2 mutation in a family

por Augenstein, Kimberly, Lane, Jane B., Horton, Antony, Schanen, Carolyn, Percy, Alan K.
Publicado 2009

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

por Killian, John T., Lane, Jane B., Lee, Hye-Seung, Skinner, Steve A., Kaufmann, Walter E., Glaze, Daniel G., Neul, Jeffrey L., Percy, Alan K.
Publicado en Pediatr Neurol (2017)

Longevity in Rett Syndrome: Analysis of the North American Database

por Kirby, Russell S., Lane, Jane B, Childers, Jerry, Skinner, Steve A., Annese, Fran, Barrish, Judy O., Glaze, Daniel G., MacLeod, Patrick, Percy, Alan K.
Publicado 2010

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

por Sheikh, Taimoor I., Ausió, Juan, Faghfoury, Hannah, Silver, Josh, Lane, Jane B., Eubanks, James H., MacLeod, Patrick, Percy, Alan K., Vincent, John B.
Publicado en Sci Rep (2016)

Longitudinal course of epilepsy in Rett syndrome and related disorders

por Tarquinio, Daniel C, Hou, Wei, Berg, Anne, Kaufmann, Walter E, Lane, Jane B, Skinner, Steven A, Motil, Kathleen J, Neul, Jeffrey L, Percy, Alan K, Glaze, Daniel G
Publicado en Brain (2017)

Assessment of Caregiver Inventory for Rett Syndrome

por Lane, Jane B., Salter, Amber R., Jones, Nancy E., Cutter, Gary, Horrigan, Joseph, Skinner, Steve A., Kaufmann, Walter E., Glaze, Daniel G., Neul, Jeffrey L., Percy, Alan K.
Publicado en J Autism Dev Disord (2017)

Biliary Tract Disease in Girls and Young Women with Rett Syndrome

por Motil, Kathleen J., Lane, Jane B., Barrish, Judy O., Annese, Fran, Geerts, Suzanne, McNair, Lauren, Skinner, Steven A., Neul, Jeffrey L., Glaze, Daniel G., Percy, Alan K.
Publicado en J Pediatr Gastroenterol Nutr (2019)

Pubertal Development in Rett Syndrome Deviates from Typical Females

por Killian, John T., Lane, Jane B., Cutter, Gary R., Skinner, Steven A., Kaufmann, Walter E., Tarquinio, Daniel C., Glaze, Daniel G., Motil, Kathleen J., Neul, Jeffrey L., Percy, Alan K.
Publicado en Pediatr Neurol (2014)

A Study of the Treatment of Rett Syndrome With Folate and Betaine

por Glaze, Daniel G., Percy, Alan K., Motil, Kathleen J., Lane, Jane B., Isaacs, Janet S., Schultz, Rebecca J., Barrish, Judy O., Neul, Jeffrey L., O'Brien, William E., Smith, E. O'Brian
Publicado 2009

Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women with Rett Syndrome

por Motil, Kathleen J., Caeg, Erwin, Barrish, Judy O., Geerts, Suzanne, Lane, Jane B., Percy, Alan K., Annese, Fran, McNair, Lauren, Skinner, Steven A., Lee, Hye-Seung, Neul, Jeffrey L., Glaze, Daniel G.
Publicado 2012

Profiling Scoliosis in Rett Syndrome

por Percy, Alan K., Lee, Hye-Seung, Neul, Jeffrey L., Lane, Jane B., Skinner, Steven A., Geerts, Suzanne P., Annese, Fran, Graham, Joy, McNair, Lauren, Motil, Kathleen J., Barrish, Judy O., Glaze, Daniel G.
Publicado 2010

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

por Percy, Alan K., Neul, Jeffrey L., Glaze, Daniel G., Motil, Kathleen J., Skinner, Steven A., Khwaja, Omar, Lee, Hye-Seung, Lane, Jane B., Barrish, Judy O, Annese, Fran, McNair, Lauren, Graham, Joy, Barnes, Katherine
Publicado 2010

The course of awake breathing disturbances across the lifespan in Rett syndrome

por Tarquinio, Daniel C., Hou, Wei, Neul, Jeffrey L., Berkmen, Gamze Kilic, Drummond, Jana, Aronoff, Elizabeth, Harris, Jennifer, Lane, Jane B., Kaufmann, Walter E., Motil, Kathleen J., Glaze, Daniel G., Skinner, Steven A., Percy, Alan K.
Publicado en Brain Dev (2018)

Growth failure and outcome in Rett syndrome: Specific growth references

por Tarquinio, Daniel Charles, Motil, Kathleen J., Hou, Wei, Lee, Hye-Seung, Glaze, Daniel G., Skinner, Steven A., Neul, Jeff L., Annese, Fran, McNair, Lauren, Barrish, Judy O., Geerts, Suzanne P., Lane, Jane B., Percy, Alan K.
Publicado 2012

Developmental delay in Rett syndrome: data from the natural history study

por Neul, Jeffrey L, Lane, Jane B, Lee, Hye-Seung, Geerts, Suzanne, Barrish, Judy O, Annese, Fran, Baggett, Lauren McNair, Barnes, Katherine, Skinner, Steven A, Motil, Kathleen J, Glaze, Daniel G, Kaufmann, Walter E, Percy, Alan K
Publicado 2014

Methyl-CpG-binding protein 2 (MEPC2) mutation type is associated with disease severity in Rett Syndrome

por Cuddapah, Vishnu Anand, Pillai, Rajesh B, Shekar, Kiran V, Lane, Jane B, Motil, Kathleen J, Skinner, Steven A, Tarquinio, Daniel Charles, Glaze, Daniel G, McGwin, Gerald, Kaufmann, Walter E, Percy, Alan K, Neul, Jeffrey L, Olsen, Michelle L
Publicado en J Med Genet (2014)

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

por Stallworth, Jennifer L., Dy, Marisela E., Buchanan, Caroline B., Chen, Chin-Fu, Scott, Alexandra E., Glaze, Daniel G., Lane, Jane B., Lieberman, David N., Oberman, Lindsay M., Skinner, Steven A., Tierney, Aubin E., Cutter, Gary R., Percy, Alan K., Neul, Jeffrey L., Kaufmann, Walter E.
Publicado en Neurology (2019)

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

por Tarquinio, Daniel C., Hou, Wei, Neul, Jeffrey L., Lane, Jane B., Barnes, Katherine V., O’Leary, Heather M., Bruck, Natalie M., Kaufmann, Walter E., Motil, Kathleen J., Glaze, Daniel G., Skinner, Steven A., Annese, Fran, Baggett, Lauren, Barrish, Judy O., Geerts, Suzanne P., Percy, Alan K.
Publicado en Pediatr Neurol (2015)