References: Fragile X Syndrome

Bennetto, L., Pennington, B. F., Porter, D., Taylor, A. K., & Hagerman, R. J. (2001). Profile of cognitive functioning in women with the fragile X mutation. Neuropsychology, 15, 290-299. 

Brown, W. T., Gross, A., Chan, C., Jenkins, E. C., Mandel, J. L., Oberle, I., Arveiler, B., Novelli, G., Thibodeau, S., & Hagerman, R. (1988). Multilocus analysis of the fragile X syndrome. Human Genetics, 78, 201-205. 

Chiang, P. W., Carpenter, L. E., & Hagerman, P. J. (2001). The 5'-untranslated region of the FMR1 message facilitates translation by internal ribosome entry. Journal of Biological Chemistry, 276, 37916-37921. 

Cohen, I. L., Fisch, G. S., Sudhalter, V., Wolf-Schein, E. G., Hanson, D., Hagerman, R., Jenkins, E. C., & Brown, W. T. (1988). Social gaze, social avoidance, and repetitive behavior in fragile X males: a controlled study. American Journal of Mental Retardation, 92, 436-446.

Cornish, K. M., Turk, J., Wilding, J., Sudhalter, V., Munir, F., Kooy, F., & Hagerman, R. (2004). Annotation: Deconstructing the attention deficit in fragile X syndrome: A developmental neuropsychological approach. Journal of Child Psychology & Psychiatry & Allied Disciplines, 45, 1042-1053.

Cronister, A., Hagerman, R. J., Wittenberger, M., & Amiri, K. (1991). Mental impairment in cytogenetically positive fragile X females. American Journal of Medical Genetics, 38, 503-504.

Crnic, L. S. & Hagerman, R. (2004). Preface: Fragile X syndrome: Frontiers of understanding gene-brain-behavior relationships. Mental Retardation & Developmental Disabilities Research Reviews, 10, 1-2. 

Cronister, A., Schreiner, R., Wittenberger, M., Amiri, K., Harris, K., & Hagerman, R. J. (1991). Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features. American Journal of Medical Genetics, 38, 269-274. 

Freedenberg, D. L., Gane, L. W., Richards, C. S., Lampe, M., Hills, J., O'Connor, R., Manchester, D., Taylor, A., Tassone, F., Hulseberg, D., Hagerman, R. J., & Patil, S. R. (1999). Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development. American Journal of Medical Genetics, 85, 197-201. 

Garcia, A. D., Breece, K. E., & Hagerman, P. J. (2003). Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population. Human Genetics, 113, 371-376.

Goldson, E. & Hagerman, R. J. (1992). The fragile X syndrome. Developmental Medicine & Child Neurology, 34, 826-832. 

Gould, E. L., Loesch, D. Z., Martin, M. J., Hagerman, R. J., Armstrong, S. M., & Huggins, R. M. (2000). Melatonin profiles and sleep characteristics in boys with fragile X syndrome: A preliminary study. American Journal of Medical Genetics, 95, 307-315. 

Grigsby, J. P., Kemper, M. B., & Hagerman, R. J. (1987). Developmental Gerstmann syndrome without aphasia in fragile X syndrome. Neuropsychologia, 25, 881-891. 

Grigsby, J., Kemper, M. B., & Hagerman, R. J. (1992). Verbal learning and memory among heterozygous fragile X females. American Journal of Medical Genetics, 43, 111-115. 

Grigsby, J. P., Kemper, M. B., Hagerman, R. J., & Myers, C. S. (1990). Neuropsychological dysfunction among affected heterozygous fragile X females. American Journal of Medical Genetics, 35, 28-35. 

Hagerman RJ, Berry-Kravis E, Hazlett HC, et al. Fragile X syndrome. Nat Rev Dis Primers. 2017;3:17065. Published 2017 Sep 29

Hagerman, R. J. & Hagerman, P. J. (2001). Fragile X syndrome: A model of gene-brain-behavior relationships. Molecular Genetics & Metabolism, 74, 89-97. 

Hagerman, R. J., Hills, J., Scharfenaker, S., & Lewis, H. (1999). Fragile X syndrome and selective mutism. American Journal of Medical Genetics, 83, 313-317. 

Hagerman, R. J., Hull, C. E., Safanda, J. F., Carpenter, I., Staley, L. W., O'Connor, R. A., Seydel, C., Mazzocco, M. M., Snow, K., & Thibodeau, S. N. (1994). High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. American Journal of Medical Genetics, 51, 298-308.

Hagerman, R. J., Jackson, C., Amiri, K., Silverman, A. C., O'Connor, R., & Sobesky, W. (1992). Girls with fragile X syndrome: physical and neurocognitive status and outcome. Pediatrics, 89, 395-400. 
Hagerman, R. J., Jackson, A. W., III, Levitas, A., Rimland, B., & Braden, M. (1986). An analysis of autism in fifty males with the fragile X syndrome. American Journal of Medical Genetics, 23, 359-374. 
Hagerman, R. J. & Sobesky, W. E. (1989). Psychopathology in fragile X syndrome. American Journal of Orthopsychiatry, 59, 142-152. 

Hagerman, R. J., Van Housen, K., Smith, A. C., & McGavran, L. (1984). Consideration of connective tissue dysfunction in the fragile X syndrome. American Journal of Medical Genetics, 17, 111-121. 
Hanson, D. M., Jackson, A. W., III, & Hagerman, R. J. (1986). Speech disturbances (cluttering) in mildly impaired males with the Martin-Bell/fragile X syndrome. American Journal of Medical Genetics, 23, 195-206. 

Hodapp, R. M., Dykens, E. M., Hagerman, R. J., Schreiner, R., Lachiewicz, A. M., & Leckman, J. F. (1990). Developmental implications of changing trajectories of IQ in males with fragile X syndrome. Journal of the American Academy of Child & Adolescent Psychiatry, 29, 214-219. 

Hull, C. & Hagerman, R. J. (1993). A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome. American Journal of Diseases of Children, 147, 1236-1241. 

Kemper, M. B., Hagerman, R. J., Ahmad, R. S., & Mariner, R. (1986). Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females. American Journal of Medical Genetics, 23, 139-156. 

Kemper, M. B., Hagerman, R. J., & Altshul-Stark, D. (1988). Cognitive profiles of boys with the fragile X syndrome. American Journal of Medical Genetics, 30, 191-200. 

Kidd SA, Lachiewicz A, Barbouth D, et al. Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014;134(5):995‐1005.

Levitas, A., Hagerman, R. J., Braden, M., Rimland, B., McBogg, P., & Matus, I. (1983). Autism and the fragile X syndrome. Journal of Developmental & Behavioral Pediatrics, 4, 151-158. 

Loesch, D. Z., Bui, Q. M., Grigsby, J., Butler, E., Epstein, J., Huggins, R. M., Taylor, A. K., & Hagerman, R. J. (2003). Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X. Neuropsychology, 17, 646-657. 

Loesch, D. Z., Huggins, R. M., Bui, Q. M., Epstein, J. L., Taylor, A. K., & Hagerman, R. J. (2002). Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis. Journal of Developmental & Behavioral Pediatrics, 23, 416-423. 

Loesch, D. Z., Huggins, R. M., Bui, Q. M., Taylor, A. K., Pratt, C., Epstein, J., & Hagerman, R. J. (2003). Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. American Journal of Medical Genetics, Part A, 122, 13-23. 

Loesch, D. Z., Huggins, R. M., & Hagerman, R. J. (2004). Phenotypic variation and FMRP levels in fragile X. Mental Retardation & Developmental Disabilities Research Reviews, 10, 31-41. 

Mazzocco, M. M., Hagerman, R. J., Cronister-Silverman, A., & Pennington, B. F. (1992). Specific frontal lobe deficits among women with the fragile X gene. Journal of the American Academy of Child & Adolescent Psychiatry, 31, 1141-1148. 

Mazzocco, M. M., Hagerman, R. J., & Pennington, B. F. (1992). Problem solving limitations among cytogenetically expressing fragile X women. American Journal of Medical Genetics, 43, 78-86. 

Merenstein, S. A., Sobesky, W. E., Taylor, A. K., Riddle, J. E., Tran, H. X., & Hagerman, R. J. (1996). Molecular-clinical correlations in males with an expanded FMR1 mutation. American Journal of Medical Genetics, 64, 388-394. 

Miller, L. J., McIntosh, D. N., McGrath, J., Shyu, V., Lampe, M., Taylor, A. K., Tassone, F., Neitzel, K., Stackhouse, T., & Hagerman, R. J. (1999). Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: A preliminary report. American Journal of Medical Genetics, 83, 268-279. 

Philofsky, A., Hepburn, S. L., Hayes, A., Hagerman, R., & Rogers, S. J. (2004). Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome. American Journal of Mental Retardation, 109, 208-218. 

Reiss, A. L., Cianchetti, C., Cohen, I. L., DeVries, B., Hagerman, R., Hinton, V., Froster, U., Lachiewicz, A., Mazzocco, M., & Sobesky, W. (1992). Brief screening questionnaire for determining affected state in fragile X syndrome: A consensus recommendation. American Journal of Medical Genetics, 43, 61-64. 

Riddle, J. E., Cheema, A., Sobesky, W. E., Gardner, S. C., Taylor, A. K., Pennington, B. F., & Hagerman, R. J. (1998). Phenotypic involvement in females with the FMR1 gene mutation. American Journal of Mental Retardation, 102, 590-601. 

Rogers, S. J., Hepburn, S. L., Stackhouse, T., & Wehner, E. (2003). Imitation performance in toddlers with autism and those with other developmental disorders. Journal of Child Psychology & Psychiatry & Allied Disciplines, 44, 763-781. 

Rogers, S. J., Wehner, D. E., & Hagerman, R. (2001). The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Journal of Developmental & Behavioral Pediatrics, 22, 409-417. 

Rojas, D. C., Benkers, T. L., Rogers, S. J., Teale, P. D., Reite, M. L., & Hagerman, R. J. (2001). Auditory evoked magnetic fields in adults with fragile X syndrome. Neuroreport, 12, 2573-2576. 

Schapiro, M. B., Murphy, D. G., Hagerman, R. J., Azari, N. P., Alexander, G. E., Miezejeski, C. M., Hinton, V. J., Horwitz, B., Haxby, J. V., & Kumar, A. (1995). Adult fragile X syndrome: Neuropsychology, brain anatomy, and metabolism. American Journal of Medical Genetics, 60, 480-493. 

Sobesky, W. E., Hull, C. E., & Hagerman, R. J. (1994). Symptoms of schizotypal personality disorder in fragile X women. Journal of the American Academy of Child & Adolescent Psychiatry, 33, 247-255. 
Sobesky, W. E., Pennington, B. F., Porter, D., Hull, C. E., & Hagerman, R. J. (1994). Emotional and neurocognitive deficits in fragile X. American Journal of Medical Genetics, 51, 378-385. 

Sobesky, W. E., Taylor, A. K., Pennington, B. F., Bennetto, L., Porter, D., Riddle, J., & Hagerman, R. J. (1996). Molecular/clinical correlations in females with fragile X. American Journal of Medical Genetics, 64, 340-345. 

Staley-Gane, L., Flynn, L., Neitzel, K., Cronister, A., & Hagerman, R. J. (1996). Expanding the role of the genetic counselor. American Journal of Medical Genetics, 64, 382-387.

Tassone, F. & Hagerman, P. J. (2003). Expression of the FMR1 gene. Cytogenetic & Genome Research, 100, 124-128.

Tassone, F., Hagerman, R. J., Chamberlain, W. D., & Hagerman, P. J. (2000). Transcription of the FMR1 gene in individuals with fragile X syndrome. American Journal of Medical Genetics, 97, 195-203. 

Tassone, F., Hagerman, R. J., Ikle, D. N., Dyer, P. N., Lampe, M., Willemsen, R., Oostra, B. A., & Taylor, A. K. (1999). FMRP expression as a potential prognostic indicator in fragile X syndrome. American Journal of Medical Genetics, 84, 250-261. 

Tassone, F., Hagerman, R. J., Loesch, D. Z., Lachiewicz, A., Taylor, A. K., & Hagerman, P. J. (2000). Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. American Journal of Medical Genetics, 94, 232-236. 

Tassone, F., Hagerman, R. J., Taylor, A. K., & Hagerman, P. J. (2001). A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. Journal of Medical Genetics, 38, 453-456. 

Voigt, R. G., Dickerson, C. L., Reynolds, A. M., Childers, D. O., Rodriguez, D. L., & Brown, F. R. (2000). Laboratory evaluation of children with autistic spectrum disorders: A guide for primary care pediatricians. Clinical Pediatrics, 39, 669-671.

Wingrove, K. J., Norris, J., Barton, P. L., & Hagerman, R. (1996). Experiences and attitudes concerning genetic testing and insurance in a Colorado population: A survey of families diagnosed with fragile X syndrome. American Journal of Medical Genetics, 64, 378-381.

Wolf-Schein, E. G., Sudhalter, V., Cohen, I. L., Fisch, G. S., Hanson, D., Pfadt, A. G., Hagerman, R., Jenkins, E., & Brown, W. T. (1987). Speech-language and the fragile X syndrome: Initial findings. ASHA, 29, 35-38.

Wright-Talamante, C., Cheema, A., Riddle, J. E., Luckey, D. W., Taylor, A. K., & Hagerman, R. J. (1996). A controlled study of longitudinal IQ changes in females and males with fragile X syndrome. American Journal of Medical Genetics, 64, 350-355.