Nörogenetik Hastalıklarda Görüntüleme Bulguları

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Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD et al., Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. Eur J Hum Genet. 2017 Apr;25(4):423-431. doi: 10.1038/ejhg.2016.204. Epub 2017 Feb 8. PMID: 28176767; PMCID: PMC5386424.

Hagerman PJ, Hagerman R. Fragile X syndrome. Curr Biol. 2021 Mar 22;31(6):R273-R275. doi: 10.1016/j.cub.2021.01.043. PMID: 33756134.

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Bird LM. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet. 2014 May 16;7:93-104. doi: 10.2147/TACG.S57386. PMID: 24876791; PMCID: PMC4036146.

Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Genotype-Phenotype Correlations in Angelman Syndrome. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. PMID: 34203304; PMCID: PMC8304328.

Dagli A, Buiting K, Williams CA. Molecular and Clinical Aspects of Angelman Syndrome. Mol Syndromol. 2012 Apr;2(3-5):100-112. doi: 10.1159/000328837. Epub 2011 Jul 28. PMID: 22670133; PMCID: PMC3366701.

Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006 Mar 1;140(5):413-8. doi: 10.1002/ajmg.a.31074. PMID: 16470747.

Butler MG, Miller JL, Forster JL. Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update. Curr Pediatr Rev. 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129; PMCID: PMC7040524.

Butler MG. Imprinting disorders in humans: a review. Curr Opin Pediatr. 2020 Dec;32(6):719-729. doi: 10.1097/MOP.0000000000000965. PMID: 33148967; PMCID: PMC8791075.

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Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Epub 2015 Jun 11. PMID: 26062517; PMCID: PMC4630255.

Mahmoud R, Kimonis V, Butler MG. Clinical Trials in Prader-Willi Syndrome: A Review. Int J Mol Sci. 2023 Jan 21;24(3):2150. doi: 10.3390/ijms24032150. PMID: 36768472; PMCID: PMC9916985.

Godler DE, Butler MG. Special Issue: Genetics of Prader-Willi Syndrome. Genes (Basel). 2021 Sep 16;12(9):1429. doi: 10.3390/genes12091429. PMID: 34573411; PMCID: PMC8471269.

Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M et al.. Williams syndrome. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. PMID: 34140529; PMCID: PMC9437774.

Riby DM, Porter MA. Williams syndrome. Adv Child Dev Behav. 2010;39:163-209. doi: 10.1016/b978-0-12-374748-8.00005-6. PMID: 21189808.

Braga AC, Carreiro LRR, Tafla TL, Ranalli NMG, Silva MFCE, Honjo RS et al. Cognitive and behavioral profile of Williams Syndrome toddlers. Codas. 2018 Jul 19;30(4):e20170188. doi: 10.1590/2317-1782/20182017188. PMID: 30043830.

Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N et al. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Am J Med Genet A. 2023 Feb;191(2):445-458. doi: 10.1002/ajmg.a.63041. Epub 2022 Nov 11. PMID: 36369750; PMCID: PMC10100125.

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Battaglia A, Carey JC, South ST. Wolf-Hirschhorn syndrome: A review and update. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):216-23. doi: 10.1002/ajmg.c.31449. Epub 2015 Aug 4. PMID: 26239400.

Paprocka J, Kaminiów K, Yetkin O, Tekturk P, Baykan B, Leiz S et al. Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review. Seizure. 2024 Mar;116:14-23. doi: 10.1016/j.seizure.2022.12.001. Epub 2022 Dec 8. PMID: 36526544

Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006 Sep 5;1:33. doi: 10.1186/1750-1172-1-33. PMID: 16953888; PMCID: PMC1574300.

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Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010 May 1;15(3):e473-8. doi: 10.4317/medoral.15.e473. PMID: 20038906.

Nandhagopal R, Udayakumar AM. Cri-du-chat syndrome. Indian J Med Res. 2014 Oct;140(4):570-1. PMID: 25488457; PMCID: PMC4277150.

Iglesias Escalera G, Carrasco Marina ML, Martín Del Valle F, Martínez Guardia N, Rodríguez L, Martínez-Fernández ML. Síndrome de Miller-Dieker [Miller-Dieker syndrome]. An Pediatr (Barc). 2009 Mar;70(3):304-6.

Shi X, Huang W, Lu J, He W, Liu Q, Wu J. Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray. Ann Hum Genet. 2021 Mar;85(2):92-96. doi: 10.1111/ahg.12407. Epub 2020 Oct 7. PMID: 33026665.

Elsea SH, Girirajan S. Smith-Magenis syndrome. Eur J Hum Genet. 2008 Apr;16(4):412-21. doi: 10.1038/sj.ejhg.5202009. Epub 2008 Jan 30. PMID: 18231123.

De Leersnyder H. Smith-Magenis syndrome. Handb Clin Neurol. 2013;111:295-6. doi: 10.1016/B978-0-444-52891-9.00034-8. PMID: 23622179.

Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane B et al. Smith-Magenis Syndrome. 2001 Oct 22 [updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301487.

Van Gils J, Magdinier F, Fergelot P, Lacombe D. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder. Genes (Basel). 2021 Jun 24;12(7):968. doi: 10.3390/genes12070968. PMID: 34202860; PMCID: PMC8303114.

Ravella R, George P. Rubinstein-Taybi syndrome. Indian J Med Res. 2020 Nov;152(Suppl 1):S236-S237. doi: 10.4103/ijmr.IJMR_2399_19. PMID: 35345227; PMCID: PMC8257171.

Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, et al. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. PMID: 38471765; PMCID: PMC11137475.

Vermeulen K, de Boer A, Janzing JGE, Koolen DA, Ockeloen CW, Willemsen MH, et al. Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. Am J Med Genet A. 2017 Jul;173(7):1821-1830. doi: 10.1002/ajmg.a.38280. Epub 2017 May 12. PMID: 28498556.

Morison LD, Kennis MGP, Rots D, Bouman A, Kummeling J, Palmer E, et al. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. J Med Genet. 2024 May 21;61(6):578-585. doi: 10.1136/jmg-2023-109702. PMID: 38290825; PMCID: PMC11148766.

Kleefstra T, de Leeuw N. Kleefstra Syndrome. 2010 Oct 5 [updated 2023 Jan 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20945554.

Wang YR, Xu NX, Wang J, Wang XM. Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms. World J Pediatr. 2019 Dec;15(6):528-535. doi: 10.1007/s12519-019-00309-4. Epub 2019 Oct 5. PMID: 31587141.

Adam MP, Hudgins L, Hannibal M. Kabuki Syndrome. 2011 Sep 1 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21882399.

Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. PMID: 30514738.

Ben-Omran T, Teebi AS. Kabuki sendromunda yapısal merkezi sinir sistemi (CNS) anomalileri. Am J Med Genet A. 2005; 137 :100–3.

Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y. Kabuki sendromu ve tek taraflı perisilvian korteks displazisi olan bir Japon hasta. Brain Dev. 2011; 33 :174–6.

Van Esch H. MECP2 Duplication Syndrome. 2008 Jan 18 [updated 2020 May 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301461.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F et al. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. PMID: 29618507.