Variable phenotypic expression of a MECP2 mutation in a family

Yazar: Augenstein, Kimberly, Lane, Jane B., Horton, Antony, Schanen, Carolyn, Percy, Alan K.
Baskı/Yayın Bilgisi 2009

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

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

Longevity in Rett Syndrome: Analysis of the North American Database

Yazar: Kirby, Russell S., Lane, Jane B, Childers, Jerry, Skinner, Steve A., Annese, Fran, Barrish, Judy O., Glaze, Daniel G., MacLeod, Patrick, Percy, Alan K.
Baskı/Yayın Bilgisi 2010

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

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

Longitudinal course of epilepsy in Rett syndrome and related disorders

Yazar: 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
Yayımlandı Brain (2017)

Assessment of Caregiver Inventory for Rett Syndrome

Yazar: 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.
Yayımlandı J Autism Dev Disord (2017)

Biliary Tract Disease in Girls and Young Women with Rett Syndrome

Yazar: 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.
Yayımlandı J Pediatr Gastroenterol Nutr (2019)

Pubertal Development in Rett Syndrome Deviates from Typical Females

Yazar: 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.
Yayımlandı Pediatr Neurol (2014)

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

Yazar: 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
Baskı/Yayın Bilgisi 2009

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

Yazar: 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.
Baskı/Yayın Bilgisi 2012

Profiling Scoliosis in Rett Syndrome

Yazar: 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.
Baskı/Yayın Bilgisi 2010

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

Yazar: 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
Baskı/Yayın Bilgisi 2010

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

Yazar: 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.
Yayımlandı Brain Dev (2018)

Growth failure and outcome in Rett syndrome: Specific growth references

Yazar: 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.
Baskı/Yayın Bilgisi 2012

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

Yazar: 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
Baskı/Yayın Bilgisi 2014

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

Yazar: 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
Yayımlandı J Med Genet (2014)

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

Yazar: 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.
Yayımlandı Neurology (2019)

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

Yazar: 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.
Yayımlandı Pediatr Neurol (2015)