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Items: 1 to 20 of 176

1.

A de novo chromosomal abnormality in Cri du Chat syndrome.

Sun SC, Luo FW, Zhou ZM, Peng YS, Song HW.

Indian J Pediatr. 2014 Jul;81(7):722-5. doi: 10.1007/s12098-013-1134-4. Epub 2013 Jul 31.

PMID:
23900752
2.

[A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].

Hu JC, Tan K, Cheng DH, Li LY, Lu GX, Tan YQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):87-90. doi: 10.3760/cma.j.issn.1003-9406.2013.01.021. Chinese.

PMID:
23450488
3.

A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.

Elmakky A, Carli D, Lugli L, Torelli P, Guidi B, Falcinelli C, Fini S, Ferrari F, Percesepe A.

Eur J Med Genet. 2014 Mar;57(4):145-50. doi: 10.1016/j.ejmg.2014.02.005. Epub 2014 Feb 18.

PMID:
24556499
4.

[Analysis of copy number variations in an infant with Cri du Chat syndrome by array-based comparative genomic hybridization].

Luo FW, Luo CQ, Xie JS, Gen Q, Liu H, Li F, Chen WB, Wang L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):443-6. doi: 10.3760/cma.j.issn.1003-9406.2013.04.014. Chinese.

PMID:
23926013
5.

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.

Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J.

Am J Med Genet. 1999 Sep 17;86(3):264-8.

PMID:
10482877
6.

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I.

Am J Med Genet A. 2009 Nov;149A(11):2513-21. doi: 10.1002/ajmg.a.33055.

PMID:
19842199
7.

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB.

Am J Med Genet. 2002 Mar 15;108(3):192-7. Review.

PMID:
11891684
8.

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.

Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE.

Am J Med Genet A. 2014 Jul;164A(7):1761-4. doi: 10.1002/ajmg.a.36494. Epub 2014 Mar 26.

PMID:
24677774
9.

Confirmation of a balanced chromosomal translocation using molecular techniques.

Smart RD, Retief AE, Overhauser J.

Prenat Diagn. 1989 Jul;9(7):505-13.

PMID:
2771889
10.

Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?

Choong YF, Watts P, Little E, Beck L.

J AAPOS. 2003 Jun;7(3):226-7.

PMID:
12825068
11.

Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier.

Chernos JE, Fowlow SB, Cox DM.

Clin Genet. 1992 May;41(5):266-9.

PMID:
1606717
12.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.

Clin Genet. 2005 Apr;67(4):341-51.

PMID:
15733271
13.

FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome.

Marinescu RC, Johnson EI, Grady D, Chen XN, Overhauser J.

Clin Genet. 1999 Oct;56(4):282-8.

PMID:
10636446
14.

A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome.

Goodart SA, Simmons AD, Grady D, Rojas K, Moyzis RK, Lovett M, Overhauser J.

Genomics. 1994 Nov 1;24(1):63-8.

PMID:
7896290
15.

del5p/dup5q in a 'cri du chat' patient without parental chromosomal rearrangement.

Akalin I, Yararbas K, Akgul N, Babaoglu E, Akay GG, Dyer S, Kutlay NY, Ruhi HI, Kog G, Tukun A.

Am J Med Genet A. 2006 May 1;140(9):1016-20. No abstract available.

PMID:
16619202
17.

Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion.

Smith A, Field B, Murray R, Nelson J.

J Paediatr Child Health. 1990 Jun;26(3):152-4.

PMID:
2206616
18.

[Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome].

Feng Z, Hu H, Mao C, Wang D, Liu L, Liu S, Jing Z, Liu H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):240-243. doi: 10.3760/cma.j.issn.1003-9406.2017.02.020. Chinese.

PMID:
28397228
19.

A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization.

Flaherty L, Moloney J, Watson N, Robson L, Bousfield L, Smith A.

J Intellect Disabil Res. 1998 Jun;42 ( Pt 3):254-8. Review.

PMID:
9678410
20.

A new genomic mechanism leading to cri-du-chat syndrome.

South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z.

Am J Med Genet A. 2006 Dec 15;140(24):2714-20.

PMID:
17103439

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