Otwarty dostęp

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki


Zacytuj

1. Shevell M, Ashwal S, Donley D, Flint J, Gingold M. et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 2003; 60: 367-80.10.1212/01.WNL.0000031431.81555.1612578916Search in Google Scholar

2. Regier DA, Friedman JM, Marra CA. Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am J Hum Genet 2010; 86: 765-72.10.1016/j.ajhg.2010.03.009286900820398885Search in Google Scholar

3. Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J. et al. Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet 2014; 55: 125-44.10.1007/s13353-013-0181-x390961624297458Search in Google Scholar

4. Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S. et al. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol 2013; 17: 589-99.10.1016/j.ejpn.2013.04.01023711909Search in Google Scholar

5. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR. et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-64.10.1016/j.ajhg.2010.04.006286900020466091Search in Google Scholar

6. Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM. et al. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 2009; 30: 283-92.10.1002/humu.2088319085936Search in Google Scholar

7. Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A. et al. Phenotypic heterogeneity of genomic disorders and rare copynumber variants. N Engl J Med 2012; 367: 1321-31.10.1056/NEJMoa1200395349441122970919Search in Google Scholar

8. Vissers LE, Stankiewicz P Microdeletion and microduplication syndromes. Methods Mol Biol 2012; 838: 29-75.10.1007/978-1-61779-507-7_222228006Search in Google Scholar

9. Roos L, Jonch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg- Petersen B, Brondum-Nielsen K et al. A new micro-duplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J Med Genet 2007; 46: 703-10.10.1136/jmg.2008.06509419520700Search in Google Scholar

10. Avela KI, Aktan-Collan K, Horelli-Kuitunen N, Knuutila S, Somer M. A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene. Am J Med Genet A 2011; 155A: 875-9.10.1002/ajmg.a.3394421595003Search in Google Scholar

11. Bi W, Sapir T, Schelochkov O, Zhang F, Withers MA, Hunter JV, Levy T. et al. Increased LIS1 expression affects human and mouse brain development. Nat Genet 2009; 41: 168-77.10.1038/ng.302439674419136950Search in Google Scholar

12. Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems. BMC Med Genet 2012; 13: 93.10.1186/1471-2350-13-93349505523035971Search in Google Scholar

13. McKinlay Gardner RJ, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counselling. 3rd edition. Oxford: University Press, 2004.Search in Google Scholar

14. Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 2000; 34: 297-329.10.1146/annurev.genet.34.1.29711092830Search in Google Scholar

15. Shinawi M, Cheung SW. The array CGH and its clinical applications. Drug Discov Today. 2008; 13: 760-70.10.1016/j.drudis.2008.06.00718617013Search in Google Scholar

16. Gersan, Keagl. Principles of clincial cytogenetics. 2nd edition, 2005.Search in Google Scholar

17. Hemmat M, Hemmat O, Anguiano A, Boyar FZ, El Naggar M. et al. Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review. Mol Cytogenet 2013; 6: 17.10.1186/1755-8166-6-17364841323639048Search in Google Scholar

18. Garcia-Heras J, Martin J. A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review. Am J Med Genet 2002; 109: 226-30.10.1002/ajmg.1035311977183Search in Google Scholar

19. Battaglia A, Brothman AR, Carey JC. Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4. Am J Med Genet 2002; 112: 103-6.10.1002/ajmg.1064012239731Search in Google Scholar

eISSN:
1854-2476
Język:
Angielski
Częstotliwość wydawania:
4 razy w roku
Dziedziny czasopisma:
Medicine, Clinical Medicine, Hygiene and Environmental Medicine