Frajil X Sendromu Olan ve Williams Sendromu Olan Çocukların Gelişimi ve Psikolojisi

Abbeduto, L., Brady, N., & Kover, S. T. (2007). Language development and fragile X syndrome: Profiles, syndrome‐specificity, and within‐syndrome differences. Mental retardation and developmental disabilities research reviews, 13(1), 36-46.

Amos-Landgraf, J. M., Cottle, A., Plenge, R. M., Friez, M., Schwartz, C. E., Longshore, J., & Willard, H. F. (2006). X Chromosome–inactivation patterns of 1,005 phenotypically unaffected females. The American Journal of Human Genetics, 79(3), 493-499.

Annaz, D., Hill, C. M., Ashworth, A., Holley, S., & Karmiloff-Smith, A. (2011). Characterisation of sleep problems in children with Williams syndrome. Research in developmental disabilities, 32(1), 164-169.

Bailey Jr, D. B., Raspa, M., Bishop, E., & Holiday, D. (2009). No change in the age of diagnosis for fragile X syndrome: findings from a national parent survey. Pediatrics, 124(2), 527-533.

Bailey Jr, D. B., Raspa, M., Olmsted, M., & Holiday, D. B. (2008). Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. American journal of medical genetics part A, 146(16), 2060-2069.

Bayés, M., Magano, L. F., Rivera, N., Flores, R., & Jurado, L. A. P. (2003). Mutational mechanisms of Williams-Beuren syndrome deletions. The American Journal of Human Genetics, 73(1), 131-151.

Beuren, A. J., Apitz, J., & Harmjanz, D. (1962). Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. circulation, 26(6), 1235-1240.

Bird, L. M., Billman, G. F., Lacro, R. V., Spicer, R. L., Jariwala, L. K., Hoyme, H. E., ... & Jones, M. C. (1996). Sudden death in Williams syndrome: report of ten cases. The Journal of pediatrics, 129(6), 926-931.

Butler, M. G., Mangrum, T., Gupta, R., & Singh, D. N. (1991). A 15‐item checklist for screening mentally retarded males for the fragile X syndrome. Clinical genetics, 39(5), 347-354.

Chapman, C. A., du Plessis, A., & Pober, B. R. (1996). Neurologic findings in children and adults with Williams syndrome. Journal of Child Neurology, 11(1), 63-65.

Chen, E., Sharma, M. R., Shi, X., Agrawal, R. K., & Joseph, S. (2014). Fragile X mental retardation protein regulates translation by binding directly to the ribosome. Molecular cell, 54(3), 407-417.

Chiurazzi, P., Schwartz, C. E., Gecz, J., & Neri, G. (2008). XLMR genes: update 2007. European Journal of Human Genetics, 16(4), 422-434.

Cordts, E. B., Christofolini, D. M., Dos Santos, A. A., Bianco, B., & Barbosa, C. P. (2011). Genetic aspects of premature ovarian failure: a literature review. Archives of gynecology and obstetrics, 283, 635-643.

Crespi, B. J., & Hurd, P. L. (2014). Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population. BMC neuroscience, 15(1), 1-6.

De Boulle, K., Verkerk, A. J., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., ... & Willems, P. J. (1993). A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nature genetics, 3(1), 31-35.

De Vries, B. B., Wiegers, A. M., Smits, A. P., Mohkamsing, S., Duivenvoorden, H. J., Fryns, J. P., ... & Niermeijer, M. F. (1996). Mental status of females with an FMR1 gene full mutation. American journal of human genetics, 58(5), 1025.

Ewart, A. K., Morris, C. A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., ... & Keating, M. T. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature genetics, 5(1), 11-16.

Fanconi, G., Girardet, P., Schlesinger, B., Butler, N., & Black, J. (1952). Chronische Hypercalcämie, kombiniert mit Osteosklerose, Hyperazotämie, Minderwuchs und kongenitalen Missbildungen. Helvetica paediatrica acta, 7(4), 314–349.

Feldman, H. M., Elias, E. R., Blum, N. J., Jimenez, M., & Stancin, T. (Eds.). (2022). Developmental-Behavioral Pediatrics E-Book. Elsevier Health Sciences, 270-279.

Frangiskakis, J. M., Ewart, A. K., Morris, C. A., Mervis, C. B., Bertrand, J., Robinson, B. F., ... & Keating, M. T. (1996). LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell, 86(1), 59-69.

Garcia, R. E., Friedman, W. F., Kaback, M. M., & Rowe, R. D. (1964). Idiopathic hypercalcemia and supravalvular aortic stenosis: Documentation of a new syndrome. New England Journal of Medicine, 271(3), 117-120.

Gedeon, A. K., Baker, E., Robinson, H., Partington, M. W., Gross, B., Manca, A., ... & Mulley, J. C. (1992). Fragile X syndrome without CCG amplification has an FMR1 deletion. Nature genetics, 1(5), 341-344.

Gersen, S. L. (2013). The principles of clinical cytogenetics. Springer Science+ Business Media New York.

GOLDSON, E., & HAGERMAN, R. J. (1993). Fragile X syndrome and failure to thrive. American Journal of Diseases of Children, 147(6), 605-607.

Gothelf, D., Farber, N., Raveh, E., Apter, A., & Attias, J. (2006). Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology, 66(3), 390-395.

Hagerman, R. J. (2021). Fragile X Syndrome and Premutation‐Associated Disorders. Cassidy and Allanson's Management of Genetic Syndromes, 443-457.

Hagerman, R. J., & Hagerman, P. J. (Eds.). (2002). Fragile X Syndrome: Diagnosis, Treatment, And Research. The Johns Hopkins University Press.

Hagerman, P. J., & Hagerman, R. J. (2004). The fragile-X premutation: a maturing perspective. The American Journal of Human Genetics, 74(5), 805-816.

Hagerman, R. J., & Hagerman, P. J. (Eds.). (2020). Fragile X Syndrome and Premutation Disorders: New Developments and Treatments. Mac Keith Press.

Hagerman, R. J., Hull, C. E., Safanda, J. F., Carpenter, I., Staley, L. W., O'Connor, R. A., ... & Taylor, A. K. (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(4), 298-308.

Hagerman, R. J., McBOGG, P. A. M. E. L. A., & Hagerman, P. J. (1983). The fragile X syndrome: history, diagnosis, and treatment. Journal of Developmental & Behavioral Pediatrics, 4(2), 122-130.

Hagerman, R. J., Protic, D., Rajaratnam, A., Salcedo-Arellano, M. J., Aydin, E. Y., & Schneider, A. (2018). Fragile X-associated neuropsychiatric disorders (FXAND). Frontiers in Psychiatry, 9, 564.

Hatton, D. D., Hooper, S. R., Bailey, D. B., Skinner, M. L., Sullivan, K. M., & Wheeler, A. (2002). Problem behavior in boys with fragile X syndrome. American Journal of Medical Genetics, 108(2), 105-116.

Hatton, D. D., Sideris, J., Skinner, M., Mankowski, J., Bailey Jr, D. B., Roberts, J., & Mirrett, P. (2006). Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. American journal of medical genetics Part A, 140(17), 1804-1813.

Hennekam, R. C. M., Krantz, I. D., & Allanson, J. E. (2010). Gorlin's Syndromes of the Head and Neck. Oxford University Press, 1143-1151.

Hobart, H. H., Morris, C. A., Mervis, C. B., Pani, A. M., Kistler, D. J., Rios, C. M., ... & Bray‐Ward, P. (2010, May). Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 154, No. 2, pp. 220-228).

Hunter, J., Rivero‐Arias, O., Angelov, A., Kim, E., Fotheringham, I., & Leal, J. (2014). Epidemiology of fragile X syndrome: A systematic review and meta‐analysis. American journal of medical genetics Part A, 164(7), 1648-1658.

Kaplan, P., Wang, P. P., & Francke, U. (2001). Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. Journal of child neurology, 16(3), 177-190.

Kim, Y. M., Cho, J. H., Kang, E., Kim, G. H., Seo, E. J., Lee, B. H., ... & Yoo, H. W. (2016). Endocrine dysfunctions in children with Williams-Beuren syndrome. Annals of pediatric endocrinology & metabolism, 21(1), 15.

Klein, A. J., Armstrong, B. L., Greer, M. K., & Brown III, F. R. (1990). Hyperacusis and otitis media in individuals with Williams syndrome. Journal of Speech and Hearing Disorders, 55(2), 339-344.

Klein-Tasman, B. P., Phillips, K. D., Lord, C. E., Mervis, C. B., & Gallo, F. (2009). Overlap with the autism spectrum in young children with Williams syndrome. Journal of developmental and behavioral pediatrics: JDBP, 30(4), 289.

Kozel, B. A., Boaz, B., Kim, C. A., Mervis, C. B., Osborne, L. R., Porter, M., & Pober, B. R. (2021). Williams syndrome (Primer). Nature Reviews: Disease Primers, 7(1).

Levitin, D. J., Cole, K., Lincoln, A., & Bellugi, U. (2005). Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype. Journal of child psychology and psychiatry, 46(5), 514-523.

Loesch, D. Z., Huggins, R. M., & Hagerman, R. J. (2004). Phenotypic variation and FMRP levels in fragile X. Mental retardation and developmental disabilities research reviews, 10(1), 31-41.

Lubs, H. A. (1969). A marker X chromosome. American journal of human genetics, 21(3), 231.

Maddalena, A., Richards, C. S., McGinniss, M. J., Brothman, A., Desnick, R. J., Grier, R. E., ... & Wolff, D. J. (2001). Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Genetics in Medicine, 3(3), 200-205.

Martens, M. A., Wilson, S. J., & Reutens, D. C. (2008). Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry, 49(6), 576-608.

Martin, J. P., & Bell, J. (1943). A pedigree of mental defect showing sex-linkage. Journal of neurology and psychiatry, 6(3-4), 154.

Mason, T. B., Arens, R., Sharman, J., Bintliff-Janisak, B., Schultz, B., Walters, A. S., ... & Pack, A. I. (2011). Sleep in children with Williams syndrome. Sleep medicine, 12(9), 892-897.

Mazzocco, M. M. (2000). Advances in research on the fragile X syndrome. Mental retardation and developmental disabilities research reviews, 6(2), 96-106.

McConkie‐Rosell, A., Finucane, B., Cronister, A., Abrams, L., Bennett, R. L., & Pettersen, B. J. (2005). Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. Journal of genetic counseling, 14(4), 249-270.

Mervis, C. B., & John, A. E. (2010, May). Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 154, No. 2, pp. 229-248)

Morris CA. Williams Syndrome. 1999 Apr 9 [Updated 2023 Apr 13]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.

Morris, C. A., Braddock, S. R., Chen, E., Trotter, T. L., Berry, S. A., Burke, L. W., ... & Stoler, J. M. (2020). Health care supervision for children with Williams syndrome. Pediatrics, 145(2).

Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts, C., & Blackburn, B. L. (1988). Natural history of Williams syndrome: physical characteristics. The Journal of pediatrics, 113(2), 318-326.

Morris, C. A., & Mervis, C. B. (2021). Williams syndrome. Cassidy and Allanson's Management of Genetic Syndromes, 1021-1038.

Morris, C. A., Mervis, C. B., Hobart, H. H., Gregg, R. G., Bertrand, J., Ensing, G. J., ... & Stock, A. D. (2003). GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype–phenotype analysis of five families with deletions in the Williams syndrome region. American journal of medical genetics Part A, 123(1), 45-59.

Morris, C. A., Thomas, I. T., & Greenberg, F. (1993). Williams syndrome: autosomal dominant inheritance. American journal of medical genetics, 47(4), 478-481.

Nolin, S. L., Brown, W. T., Glicksman, A., Houck Jr, G. E., Gargano, A. D., Sullivan, A., ... & Sherman, S. L. (2003). Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. The American Journal of Human Genetics, 72(2), 454-464.

Onur, Ö. Z. E. R., Demirhan, O., Erdal, T. U. N. C., BAĞCI, H., Karahan, D., Tanriverdi, N., ... & Keser, I. (2012). Frajil X Sendromu Olduklarından Şüphelenilen Çocuklarda Sitogenetik ve Moleküler Araştırmalar. Cukurova Medical Journal, 37(2), 76-83.

ÖZBEY, Ü., Hüseyin, Y. Ü. C. E., & Murat, K. A. R. A. (2007). Mental Retardasyonlu Bireylerde Sitogenetik ve Frajil X Moleküler Testlerin Uygulanması. Fırat Tıp Dergisi, 12(4), 269-272.

Pankau, R., Partsch, C. J., Winter, M., Gosch, A., & Wessel, A. (1996). Incidence and spectrum of renal abnormalities in Williams‐Beuren syndrome. American journal of medical genetics, 63(1), 301-304.

Penagarikano, O., Mulle, J. G., & Warren, S. T. (2007). The pathophysiology of fragile x syndrome. Annu. Rev. Genomics Hum. Genet., 8, 109-129.

Penrose, L. S. (1938). Contribution to the psychology and pedagogy of feeble-minded children. Special Report SeriesNo, 229.

Pieretti, M., Zhang, F., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66(4), 817-822.

Pitts, C. H., Klein‐Tasman, B. P., Osborne, J. W., & Mervis, C. B. (2016). Predictors of specific phobia in children with Williams syndrome. Journal of Intellectual Disability Research, 60(10), 1031-1042.

Pober, B. R. (2010). Williams–Beuren syndrome. New England Journal of Medicine, 362(3), 239-252.

Preus, M. (1984). The Williams syndrome: objective definition and diagnosis. Clinical Genetics, 25(5), 422-428.

Raspa, M., Wheeler, A. C., & Riley, C. (2017). Public health literature review of fragile X syndrome. Pediatrics, 139(Supplement_3), S153-S171.

Saldarriaga, W., Tassone, F., González-Teshima, L. Y., Forero-Forero, J. V., Ayala-Zapata, S., & Hagerman, R. (2014). Fragile X syndrome. Colombia medica, 45(4), 190-198.

Sammour, Z. M., de Bessa Jr, J., Hisano, M., Bruschini, H., Kim, C. A., Srougi, M., & Gomes, C. M. (2017). Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome. Journal of Pediatric Urology, 13(2), 203-e1.

Santoro, S. D., Giacheti, C. M., Rossi, N. F., Campos, L. M. G., & Pinato, L. (2016). Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome. Physiology & behavior, 159, 14-19.

Schwarte, A. R. (2008). Fragile X syndrome. School Psychology Quarterly, 23(2), 290.

Sherman, S., Pletcher, B. A., & Driscoll, D. A. (2005). Fragile X syndrome: diagnostic and carrier testing. Genetics in medicine, 7(8), 584-587.

Sniecinska-Cooper, A. M., Iles, R. K., Butler, S. A., Jones, H., Bayford, R., & Dimitriou, D. (2015). Abnormal secretion of melatonin and cortisol in relation to sleep disturbances in children with Williams syndrome. Sleep medicine, 16(1), 94-100.

Strømme, P., Bjømstad, P. G., & Ramstad, K. (2002). Prevalence estimation of Williams syndrome. Journal of child neurology, 17(4), 269-271.

Sutherland, G. R. (1977). Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science, 197(4300), 265-266.

Symons, F. J., Byiers, B. J., Raspa, M., Bishop, E., & Bailey Jr, D. B. (2010). Self-injurious behavior and fragile X syndrome: findings from the national fragile X survey. American journal on intellectual and developmental disabilities, 115(6), 473-481.

Thom, R. P., Pober, B. R., & McDougle, C. J. (2021). Psychopharmacology of Williams syndrome: safety, tolerability, and effectiveness. Expert Opinion on Drug Safety, 20(3), 293-306.

Tunçbilek, E., Alikasifoǧlu, M., Boduroǧlu, K., Aktas, D., & Anar, B. (1999). Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology. American journal of medical genetics, 84(3), 202-203.

Ütine, G. E., Şimşek-Kiper, P. Ö., & Boduroğlu, K. (2012). Mikrodelesyon sendromları. Small, 42, 51.

Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., ... & Warren, S. T. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65(5), 905-914.

Wessel, A., Gravenhorst, V., Buchhorn, R., Gosch, A., Partsch, C. J., & Pankau, R. (2004). Risk of sudden death in the Williams–Beuren syndrome. American Journal of Medical Genetics Part A, 127(3), 234-237.

Williams, J. C. P., Barratt-Boyes, B. G., & Lowe, J. B. (1961). Supravalvular aortic stenosis. Circulation, 24(6), 1311-1318.

Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., ... & Richards, R. I. (1991). Fragile X genotype characterized by an unstable region of DNA. Science, 252(5009), 1179-1181.

Abbeduto, L., Brady, N., & Kover, S. T. (2007). Language development and fragile X syndrome: Profiles, syndrome‐specificity, and within‐syndrome differences. Mental retardation and developmental disabilities research reviews, 13(1), 36-46.

Amos-Landgraf, J. M., Cottle, A., Plenge, R. M., Friez, M., Schwartz, C. E., Longshore, J., & Willard, H. F. (2006). X Chromosome–inactivation patterns of 1,005 phenotypically unaffected females. The American Journal of Human Genetics, 79(3), 493-499.

Annaz, D., Hill, C. M., Ashworth, A., Holley, S., & Karmiloff-Smith, A. (2011). Characterisation of sleep problems in children with Williams syndrome. Research in developmental disabilities, 32(1), 164-169.

Bailey Jr, D. B., Raspa, M., Bishop, E., & Holiday, D. (2009). No change in the age of diagnosis for fragile X syndrome: findings from a national parent survey. Pediatrics, 124(2), 527-533.

Bailey Jr, D. B., Raspa, M., Olmsted, M., & Holiday, D. B. (2008). Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. American journal of medical genetics part A, 146(16), 2060-2069.

Bayés, M., Magano, L. F., Rivera, N., Flores, R., & Jurado, L. A. P. (2003). Mutational mechanisms of Williams-Beuren syndrome deletions. The American Journal of Human Genetics, 73(1), 131-151.

Beuren, A. J., Apitz, J., & Harmjanz, D. (1962). Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. circulation, 26(6), 1235-1240.

Bird, L. M., Billman, G. F., Lacro, R. V., Spicer, R. L., Jariwala, L. K., Hoyme, H. E., ... & Jones, M. C. (1996). Sudden death in Williams syndrome: report of ten cases. The Journal of pediatrics, 129(6), 926-931.

Butler, M. G., Mangrum, T., Gupta, R., & Singh, D. N. (1991). A 15‐item checklist for screening mentally retarded males for the fragile X syndrome. Clinical genetics, 39(5), 347-354.

Chapman, C. A., du Plessis, A., & Pober, B. R. (1996). Neurologic findings in children and adults with Williams syndrome. Journal of Child Neurology, 11(1), 63-65.

Chen, E., Sharma, M. R., Shi, X., Agrawal, R. K., & Joseph, S. (2014). Fragile X mental retardation protein regulates translation by binding directly to the ribosome. Molecular cell, 54(3), 407-417.

Chiurazzi, P., Schwartz, C. E., Gecz, J., & Neri, G. (2008). XLMR genes: update 2007. European Journal of Human Genetics, 16(4), 422-434.

Cordts, E. B., Christofolini, D. M., Dos Santos, A. A., Bianco, B., & Barbosa, C. P. (2011). Genetic aspects of premature ovarian failure: a literature review. Archives of gynecology and obstetrics, 283, 635-643.

Crespi, B. J., & Hurd, P. L. (2014). Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population. BMC neuroscience, 15(1), 1-6.

De Boulle, K., Verkerk, A. J., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., ... & Willems, P. J. (1993). A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nature genetics, 3(1), 31-35.

De Vries, B. B., Wiegers, A. M., Smits, A. P., Mohkamsing, S., Duivenvoorden, H. J., Fryns, J. P., ... & Niermeijer, M. F. (1996). Mental status of females with an FMR1 gene full mutation. American journal of human genetics, 58(5), 1025.

Ewart, A. K., Morris, C. A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., ... & Keating, M. T. (1993). Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature genetics, 5(1), 11-16.

Fanconi, G., Girardet, P., Schlesinger, B., Butler, N., & Black, J. (1952). Chronische Hypercalcämie, kombiniert mit Osteosklerose, Hyperazotämie, Minderwuchs und kongenitalen Missbildungen. Helvetica paediatrica acta, 7(4), 314–349.

Feldman, H. M., Elias, E. R., Blum, N. J., Jimenez, M., & Stancin, T. (Eds.). (2022). Developmental-Behavioral Pediatrics E-Book. Elsevier Health Sciences, 270-279.

Frangiskakis, J. M., Ewart, A. K., Morris, C. A., Mervis, C. B., Bertrand, J., Robinson, B. F., ... & Keating, M. T. (1996). LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell, 86(1), 59-69.

Garcia, R. E., Friedman, W. F., Kaback, M. M., & Rowe, R. D. (1964). Idiopathic hypercalcemia and supravalvular aortic stenosis: Documentation of a new syndrome. New England Journal of Medicine, 271(3), 117-120.

Gedeon, A. K., Baker, E., Robinson, H., Partington, M. W., Gross, B., Manca, A., ... & Mulley, J. C. (1992). Fragile X syndrome without CCG amplification has an FMR1 deletion. Nature genetics, 1(5), 341-344.

Gersen, S. L. (2013). The principles of clinical cytogenetics. Springer Science+ Business Media New York.

GOLDSON, E., & HAGERMAN, R. J. (1993). Fragile X syndrome and failure to thrive. American Journal of Diseases of Children, 147(6), 605-607.

Gothelf, D., Farber, N., Raveh, E., Apter, A., & Attias, J. (2006). Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology, 66(3), 390-395.

Hagerman, R. J. (2021). Fragile X Syndrome and Premutation‐Associated Disorders. Cassidy and Allanson's Management of Genetic Syndromes, 443-457.

Hagerman, R. J., & Hagerman, P. J. (Eds.). (2002). Fragile X Syndrome: Diagnosis, Treatment, And Research. The Johns Hopkins University Press.

Hagerman, P. J., & Hagerman, R. J. (2004). The fragile-X premutation: a maturing perspective. The American Journal of Human Genetics, 74(5), 805-816.

Hagerman, R. J., & Hagerman, P. J. (Eds.). (2020). Fragile X Syndrome and Premutation Disorders: New Developments and Treatments. Mac Keith Press.

Hagerman, R. J., Hull, C. E., Safanda, J. F., Carpenter, I., Staley, L. W., O'Connor, R. A., ... & Taylor, A. K. (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(4), 298-308.

Hagerman, R. J., McBOGG, P. A. M. E. L. A., & Hagerman, P. J. (1983). The fragile X syndrome: history, diagnosis, and treatment. Journal of Developmental & Behavioral Pediatrics, 4(2), 122-130.

Hagerman, R. J., Protic, D., Rajaratnam, A., Salcedo-Arellano, M. J., Aydin, E. Y., & Schneider, A. (2018). Fragile X-associated neuropsychiatric disorders (FXAND). Frontiers in Psychiatry, 9, 564.

Hatton, D. D., Hooper, S. R., Bailey, D. B., Skinner, M. L., Sullivan, K. M., & Wheeler, A. (2002). Problem behavior in boys with fragile X syndrome. American Journal of Medical Genetics, 108(2), 105-116.

Hatton, D. D., Sideris, J., Skinner, M., Mankowski, J., Bailey Jr, D. B., Roberts, J., & Mirrett, P. (2006). Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. American journal of medical genetics Part A, 140(17), 1804-1813.

Hennekam, R. C. M., Krantz, I. D., & Allanson, J. E. (2010). Gorlin's Syndromes of the Head and Neck. Oxford University Press, 1143-1151.

Hobart, H. H., Morris, C. A., Mervis, C. B., Pani, A. M., Kistler, D. J., Rios, C. M., ... & Bray‐Ward, P. (2010, May). Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 154, No. 2, pp. 220-228).

Hunter, J., Rivero‐Arias, O., Angelov, A., Kim, E., Fotheringham, I., & Leal, J. (2014). Epidemiology of fragile X syndrome: A systematic review and meta‐analysis. American journal of medical genetics Part A, 164(7), 1648-1658.

Kaplan, P., Wang, P. P., & Francke, U. (2001). Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. Journal of child neurology, 16(3), 177-190.

Kim, Y. M., Cho, J. H., Kang, E., Kim, G. H., Seo, E. J., Lee, B. H., ... & Yoo, H. W. (2016). Endocrine dysfunctions in children with Williams-Beuren syndrome. Annals of pediatric endocrinology & metabolism, 21(1), 15.

Klein, A. J., Armstrong, B. L., Greer, M. K., & Brown III, F. R. (1990). Hyperacusis and otitis media in individuals with Williams syndrome. Journal of Speech and Hearing Disorders, 55(2), 339-344.

Klein-Tasman, B. P., Phillips, K. D., Lord, C. E., Mervis, C. B., & Gallo, F. (2009). Overlap with the autism spectrum in young children with Williams syndrome. Journal of developmental and behavioral pediatrics: JDBP, 30(4), 289.

Kozel, B. A., Boaz, B., Kim, C. A., Mervis, C. B., Osborne, L. R., Porter, M., & Pober, B. R. (2021). Williams syndrome (Primer). Nature Reviews: Disease Primers, 7(1).

Levitin, D. J., Cole, K., Lincoln, A., & Bellugi, U. (2005). Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype. Journal of child psychology and psychiatry, 46(5), 514-523.

Loesch, D. Z., Huggins, R. M., & Hagerman, R. J. (2004). Phenotypic variation and FMRP levels in fragile X. Mental retardation and developmental disabilities research reviews, 10(1), 31-41.

Lubs, H. A. (1969). A marker X chromosome. American journal of human genetics, 21(3), 231.

Maddalena, A., Richards, C. S., McGinniss, M. J., Brothman, A., Desnick, R. J., Grier, R. E., ... & Wolff, D. J. (2001). Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Genetics in Medicine, 3(3), 200-205.

Martens, M. A., Wilson, S. J., & Reutens, D. C. (2008). Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry, 49(6), 576-608.

Martin, J. P., & Bell, J. (1943). A pedigree of mental defect showing sex-linkage. Journal of neurology and psychiatry, 6(3-4), 154.

Mason, T. B., Arens, R., Sharman, J., Bintliff-Janisak, B., Schultz, B., Walters, A. S., ... & Pack, A. I. (2011). Sleep in children with Williams syndrome. Sleep medicine, 12(9), 892-897.

Mazzocco, M. M. (2000). Advances in research on the fragile X syndrome. Mental retardation and developmental disabilities research reviews, 6(2), 96-106.

McConkie‐Rosell, A., Finucane, B., Cronister, A., Abrams, L., Bennett, R. L., & Pettersen, B. J. (2005). Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. Journal of genetic counseling, 14(4), 249-270.

Mervis, C. B., & John, A. E. (2010, May). Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 154, No. 2, pp. 229-248)

Morris CA. Williams Syndrome. 1999 Apr 9 [Updated 2023 Apr 13]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.

Morris, C. A., Braddock, S. R., Chen, E., Trotter, T. L., Berry, S. A., Burke, L. W., ... & Stoler, J. M. (2020). Health care supervision for children with Williams syndrome. Pediatrics, 145(2).

Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts, C., & Blackburn, B. L. (1988). Natural history of Williams syndrome: physical characteristics. The Journal of pediatrics, 113(2), 318-326.

Morris, C. A., & Mervis, C. B. (2021). Williams syndrome. Cassidy and Allanson's Management of Genetic Syndromes, 1021-1038.

Morris, C. A., Mervis, C. B., Hobart, H. H., Gregg, R. G., Bertrand, J., Ensing, G. J., ... & Stock, A. D. (2003). GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype–phenotype analysis of five families with deletions in the Williams syndrome region. American journal of medical genetics Part A, 123(1), 45-59.

Morris, C. A., Thomas, I. T., & Greenberg, F. (1993). Williams syndrome: autosomal dominant inheritance. American journal of medical genetics, 47(4), 478-481.

Nolin, S. L., Brown, W. T., Glicksman, A., Houck Jr, G. E., Gargano, A. D., Sullivan, A., ... & Sherman, S. L. (2003). Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. The American Journal of Human Genetics, 72(2), 454-464.

Onur, Ö. Z. E. R., Demirhan, O., Erdal, T. U. N. C., BAĞCI, H., Karahan, D., Tanriverdi, N., ... & Keser, I. (2012). Frajil X Sendromu Olduklarından Şüphelenilen Çocuklarda Sitogenetik ve Moleküler Araştırmalar. Cukurova Medical Journal, 37(2), 76-83.

ÖZBEY, Ü., Hüseyin, Y. Ü. C. E., & Murat, K. A. R. A. (2007). Mental Retardasyonlu Bireylerde Sitogenetik ve Frajil X Moleküler Testlerin Uygulanması. Fırat Tıp Dergisi, 12(4), 269-272.

Pankau, R., Partsch, C. J., Winter, M., Gosch, A., & Wessel, A. (1996). Incidence and spectrum of renal abnormalities in Williams‐Beuren syndrome. American journal of medical genetics, 63(1), 301-304.

Penagarikano, O., Mulle, J. G., & Warren, S. T. (2007). The pathophysiology of fragile x syndrome. Annu. Rev. Genomics Hum. Genet., 8, 109-129.

Penrose, L. S. (1938). Contribution to the psychology and pedagogy of feeble-minded children. Special Report SeriesNo, 229.

Pieretti, M., Zhang, F., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66(4), 817-822.

Pitts, C. H., Klein‐Tasman, B. P., Osborne, J. W., & Mervis, C. B. (2016). Predictors of specific phobia in children with Williams syndrome. Journal of Intellectual Disability Research, 60(10), 1031-1042.

Pober, B. R. (2010). Williams–Beuren syndrome. New England Journal of Medicine, 362(3), 239-252.

Preus, M. (1984). The Williams syndrome: objective definition and diagnosis. Clinical Genetics, 25(5), 422-428.

Raspa, M., Wheeler, A. C., & Riley, C. (2017). Public health literature review of fragile X syndrome. Pediatrics, 139(Supplement_3), S153-S171.

Saldarriaga, W., Tassone, F., González-Teshima, L. Y., Forero-Forero, J. V., Ayala-Zapata, S., & Hagerman, R. (2014). Fragile X syndrome. Colombia medica, 45(4), 190-198.

Sammour, Z. M., de Bessa Jr, J., Hisano, M., Bruschini, H., Kim, C. A., Srougi, M., & Gomes, C. M. (2017). Lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome. Journal of Pediatric Urology, 13(2), 203-e1.

Santoro, S. D., Giacheti, C. M., Rossi, N. F., Campos, L. M. G., & Pinato, L. (2016). Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome. Physiology & behavior, 159, 14-19.

Schwarte, A. R. (2008). Fragile X syndrome. School Psychology Quarterly, 23(2), 290.

Sherman, S., Pletcher, B. A., & Driscoll, D. A. (2005). Fragile X syndrome: diagnostic and carrier testing. Genetics in medicine, 7(8), 584-587.

Sniecinska-Cooper, A. M., Iles, R. K., Butler, S. A., Jones, H., Bayford, R., & Dimitriou, D. (2015). Abnormal secretion of melatonin and cortisol in relation to sleep disturbances in children with Williams syndrome. Sleep medicine, 16(1), 94-100.

Strømme, P., Bjømstad, P. G., & Ramstad, K. (2002). Prevalence estimation of Williams syndrome. Journal of child neurology, 17(4), 269-271.

Sutherland, G. R. (1977). Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science, 197(4300), 265-266.

Symons, F. J., Byiers, B. J., Raspa, M., Bishop, E., & Bailey Jr, D. B. (2010). Self-injurious behavior and fragile X syndrome: findings from the national fragile X survey. American journal on intellectual and developmental disabilities, 115(6), 473-481.

Thom, R. P., Pober, B. R., & McDougle, C. J. (2021). Psychopharmacology of Williams syndrome: safety, tolerability, and effectiveness. Expert Opinion on Drug Safety, 20(3), 293-306.

Tunçbilek, E., Alikasifoǧlu, M., Boduroǧlu, K., Aktas, D., & Anar, B. (1999). Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology. American journal of medical genetics, 84(3), 202-203.

Ütine, G. E., Şimşek-Kiper, P. Ö., & Boduroğlu, K. (2012). Mikrodelesyon sendromları. Small, 42, 51.

Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., ... & Warren, S. T. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65(5), 905-914.

Wessel, A., Gravenhorst, V., Buchhorn, R., Gosch, A., Partsch, C. J., & Pankau, R. (2004). Risk of sudden death in the Williams–Beuren syndrome. American Journal of Medical Genetics Part A, 127(3), 234-237.

Williams, J. C. P., Barratt-Boyes, B. G., & Lowe, J. B. (1961). Supravalvular aortic stenosis. Circulation, 24(6), 1311-1318.

Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., ... & Richards, R. I. (1991). Fragile X genotype characterized by an unstable region of DNA. Science, 252(5009), 1179-1181.