| 1 | CDCS, SEMA5A
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| Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes.
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| Chen CP, Huang MC, Chen YY, Chern SR, Wu PS, Su JW, Town DD, Wang W.
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| Gene 524(2):407-11. doi: 10.1016/j.gene.2013.03.003. Epub 2013 Mar 14.
2013
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| 2 | CDCS, DUP5P
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| Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.
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| Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I.
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| Am J Med Genet A 149A(11):2513-21.
2009
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| 3 | CDCS
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| Speech and language development in cri du chat syndrome: A critical review.
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| Kristoffersen KE.
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| Clin Linguist Phon 22(6):443-57. 2008
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| 4 | CDCS
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| Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy.
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| Swanepoel D.
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| Clin Genet 72(4):369-73. 2007
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| 5 | CDCS
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| The natural history of Cri du Chat Syndrome. A report from the Italian Register.
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| Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD.
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| Eur J Med Genet 49(5):363-383. Epub 2006 Jan 13. 2006
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| 6 | CDCS
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| A new genomic mechanism leading to cri-du-chat syndrome.
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| South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z.
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| Am J Med Genet A 140(24):2714-20. 2006
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| 7 | CDCS, DEL5PT, DEL5P14
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| High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.
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| Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D.
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| Am J Hum Genet 76(2):312-26. Epub 2005 Jan 04. 2005
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| 8 | DEL5PT, CDCS
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| 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.
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| Rossi E, de Gregori M, Grazia Patricelli M, Pramparo T, Argentiero L, Giglio S, Sosta K, Foresti G, Zuffardi O.
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| Am J Med Genet A 133(2):189-92. 2005
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| 9 | CDCS, MED10
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| Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR.
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| Wu Q, Niebuhr E, Yang H, Hansen L.
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| Eur J Hum Genet 13(4):475-85. 2005
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| 10 | CDCS,HFM
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| Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?
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| Choong YF, Watts P, Little E, Beck L.
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| J AAPOS 7(3):226-7. 2003
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| 11 | CDCS
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| A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome.
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| Collins MS, Cornish K.
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| J Intellect Disabil Res 46(Pt 2):133-40. 2002
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| 12 | CDCS, DUP5Q
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| Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).
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| Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB.
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| Am J Med Genet 108(3):192-7. Review. 2002
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| 13 | CDCS, CDCCR
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| Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.
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| Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD.
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| J Med Genet 38(3):151-8. 2001
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| 14 | CDCS
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| Psychomotor development in Cri du Chat Syndrome.
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| Cerruti Mainardi P, Guala A, Pastore G, Pozzo G, Dagna Bricarelli F, Pierluigi M.
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| Clin Genet 57(6):459-61. No abstract available. Erratum in: Clin Genet 2000 Aug;58(2):156. 2000
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| 15 | CDCS
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| Cri du chat syndrome: changing phenotype in older patients.
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| Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP.
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| Am J Med Genet 90(3):203-15. 2000
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| 16 | CDCS, DEL5P14
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| Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation.
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| Hand JL, Michels VV, Marinello MJ, Ketterling RP, Jalal SM.
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| Prenat Diagn 20(2):144-8; discussion 149-51. 2000
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| 17 | CDCS, DEL5P14
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| 5p14 deletion associated with microcephaly and seizures.
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| Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J.
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| J Med Genet 37(2):125-7. 2000
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| 18 | CDCS
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| No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome.
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| Marinescu RC, et al.
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| Am J Med Genet 86(1):66-70 1999
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| 19 | CDCS
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| FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome.
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| Marinescu RC, Johnson EI, Grady D, Chen XN, Overhauser J.
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| Clin Genet 56(4):282-8 1999
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| 20 | CDCS
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| Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.
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| Kjaer I, Niebuhr E.
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| Am J Med Genet 82(1):6-14. 1999
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| 21 | CDCS, DEL5PT
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| A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis.
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| Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM.
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| J Med Genet 36(7):567-70. 1999
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| 22 | CDCS, SEMA5A
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| Isolation of cDNAs from the Cri-du-Chat critical region by direct screening of a chromosome 5-specific cDNA library.
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| Simmons AD, et al.
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| Genome Res 7 : 118-127. 1997
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| 23 | CDCS
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| Development of diagnostic tools for the analysis of 5p deletions using interphase FISH.
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| Gersh M, Grady D, Rojas K, Lovett M, Moyzis R, Overhauser J.
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| Cytogenet Cell Genet 77(3-4):246-51. 1997
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| 24 | CTNND2, TRIO, CDCS
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| A high-resolution physical and transcript map of the Cri du Chat region of human chromosome 5p.
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| Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ.
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| Genome Res 7(8):787-801. 1997
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| 25 | CDCS
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| Five novel genes from the Cri-du-Chat critical region isolated by direct selection.
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| Simmons AD, Goodart SA, Gallardo TD, Overhauser J, Lovett M.
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| Hum Mol Genet 4 : 295-302. 1995
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| 26 | CDCS, DEL5PT
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| Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.
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| Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J.
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| Am J Hum Genet 56(6):1404-10. 1995
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| 27 | CDCS, CDCCR, DEL5PT
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| Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.
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| Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E.
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| Am J Hum Genet 56(5):1162-72. 1995
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| 28 | CDCS, DEL5P14
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| Molecular and phenotypic mapping of the short arm of chromosome 5 : sublocalization of the critical region for the Cri-du-Chat syndrome.
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| Overhauser J, et al.
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| Hum Mol Genet 3 : 247-252. 1994
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| 29 | CDCS
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| A yeast artificial chromosome contig of the critical region for Cri-du-Chat syndrome.
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| Goodart SA, et al.
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| Genomics 24 : 63-68. 1994
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| 30 | CDCS
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| Parental origin of chromosome 5 deletions in the cri-du-chat syndrome.
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| Overhauser J, McMahon J, Oberlender S, Carlin ME, Niebuhr E, Wasmuth JJ, Lee-Chen J.
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| Am J Med Genet 37(1):83-6. 1990
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| 31 | CDCS
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| Clinical heterogeneity in 80 home-reared children with cri du chat syndrome.
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| Wilkins LE, Brown JA, Nance WE, Wolf B.
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| J Pediatr 102(4):528-33. 1983
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| 32 | CDCS
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| Cytologic observations in 35 individuals with a 5p- karyotype.
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| Niebuhr E.
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| Hum Genet 42(2):143-56. 1978
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| 33 | CDCS
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| The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.
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| Niebuhr E.
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| Hum Genet 44(3):227-75. Review. 1978
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