INFORMAZIONI SU QUESTO ARTICOLO

Cita

1. Shashidhar Pai G, Lewandowski Raymond C, Borgaonkar Digamber S. Handbook of chromosomal syndromes. New Jersey, John Wiley & Sons Inc., Hoboken, 2003. Pg215.Search in Google Scholar

2. Petek E, Plecko-Startinig B, Windpassinger C, Egger H, Wagner K, Kroisel PM. Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies. J Med Genet. 2003;40(4):e47.10.1136/jmg.40.4.e47Search in Google Scholar

3. Kamnasaran D, O’Brien PC, Schuffenhauer S, et al. Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet. 2001;102(2):173-182.10.1002/ajmg.1418Search in Google Scholar

4. Torgyekes E, Shanske AL, Anyane-Yeboa K, et al. The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature. Am J Med Genet A. 2011;155A(8):1884-1896. DOI: 10.1002/ajmg.a.3409010.1002/ajmg.a.34090Search in Google Scholar

5. Zahir F, Firth HV, Baross A, et al. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet. 2007;44(9):556-561. DOI: 10.1136/jmg.2007.05082310.1136/jmg.2007.050823Search in Google Scholar

6. Segawa Y, Itokazu N, Hirose A, Nakagawa S, Takashima S. A case of partial 14q- with facial features of holoprosencephaly and hydranencephaly. Pediatr Neurol. 2007;37(1):51-54. DOI: 10.1016/j.pediatrneurol.2007.02.01010.1016/j.pediatrneurol.2007.02.010Search in Google Scholar

7. Gamage TH, Godapitiya IU, Nanayakkara S, Jayasekara RW, Dissanayake VH. A child with mosaicism for deletion (14)(q11.2q13). Indian J Hum Genet. 2012;18:130-133. doi: 10.4103/0971-6866.96684.10.4103/0971-6866.96684Search in Google Scholar

8. Fonseca DJ, Prada CF, Siza LM, et al. A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin. Am J Med Genet A. 2012;158A(3):689-693. doi: 10.1002/ajmg.a.35215.10.1002/ajmg.a.35215Search in Google Scholar

9. Govaerts L, Toorman J, Blij-Philipsen MV, Smeets D. Another patient with a deletion 14q11.2q13. Ann Genet. 1996;39(4):197-200.Search in Google Scholar

10. Grammatico P, De Sanctis S, Di Rosa C, Cupilari F, Del Porto G. First case of deletion 14q11.2q13: clinical phenotype. Ann Genet. 1994;37(1):30-32.Search in Google Scholar

11. Ramelli GP, Remonda L, Lovblad KO, Cupilari F, del Porto G. Abnormal myelination in a patient with deletion 14q11.2q13.1. Pediatr Neurol. 2000;23(2):170-172.10.1016/S0887-8994(00)00169-7Search in Google Scholar

12. Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994;52(1):44-50.10.1002/ajmg.13205201097977460Search in Google Scholar

13. Chen CP, Lee CC, Chen LF, Chuang CY, Jan SW, Chen BF. Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly. J Med Genet. 1997;34:777-778.10.1136/jmg.34.9.77710510679321769Search in Google Scholar

14. Bravo EK, White ML, Olney AH, McAllister JL, Zhang YD. Novel Proximal 14q Deletion: Clinical and Diffusion Tensor Imaging Tractography Findings in a Patient with Lissencephaly, Agenesis of the Corpus Callosum, and Septo-Optic Dysplasia. AJNR Am J Neuroradiol. 2012;33(2):E16-18. doi: 10.3174/ajnr.A274510.3174/ajnr.A2745796481322194387Search in Google Scholar

15. Papa FT, Mencarelli MA, Caselli R, et al. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. Am J Med Genet A. 2008;146A(15):1994-1998. doi: 10.1002/ajmg.a.32413.10.1002/ajmg.a.3241318627055Search in Google Scholar

16. Su PH, Chen SJ, Lee IC, et al. Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly. J Formos Med Assoc. 2004;103(5):385-387.Search in Google Scholar

17. Schuffenhauer S, Leifheit HJ, Lichtner P, Peters H, Murken J, Emmerich P. De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings. J Med Genet 1999;36:233-236.Search in Google Scholar

18. Mencarelli MA, Kleefstra T, Katzaki E, et al. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet. 2009;52(2-3):148-152. doi: 10.1016/j.ejmg.2009.03.004.10.1016/j.ejmg.2009.03.00419303466Search in Google Scholar

19. Piccione M, Serra G, Consiglio V, et al. 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly. Am J Med Genet A. 2012;158A(6):1427-1433. doi: 10.1002/ajmg.a.35334.10.1002/ajmg.a.3533422581785Search in Google Scholar

20. Gentile M, De Mattia D, Pansini A, et al. 14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype. Am J Med Genet A. 2016;170(7):1884-1888. doi: 10.1002/ajmg.a.37691.10.1002/ajmg.a.3769127148860Search in Google Scholar

21. Ellaway CJ, Ho G, Bettella E, Knapman A, et al. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. Eur J Hum Genet. 2013;21(5):522-527. doi: 10.1038/ejhg.2012.208.10.1038/ejhg.2012.208364138422968132Search in Google Scholar

22. Cingöz S, Bache I, Bjerglund L, et al. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A. 2011;155A(1):203-206. doi: 10.1002/ajmg.a.33766.10.1002/ajmg.a.3376621204233Search in Google Scholar

23. Olsen IE, Groveman SA, Lawson ML, Clark RH, Zemel BS. New intrauterine growth curves based on United States data. Pediatrics. 2010;125(2):e214-224. doi: 10.1542/peds.2009-0913.10.1542/peds.2009-091320100760Search in Google Scholar

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