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Items: 1 to 20 of 334

1.
2.

Development of diagnostic tools for the analysis of 5p deletions using interphase FISH.

Gersh M, Grady D, Rojas K, Lovett M, Moyzis R, Overhauser J.

Cytogenet Cell Genet. 1997;77(3-4):246-51.

PMID:
9284926
3.

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
4.

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.

Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ.

Hum Mol Genet. 1994 Feb;3(2):247-52.

PMID:
8004090
5.

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
7.

Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion.

Fang JS, Lee KF, Huang CT, Syu CL, Yang KJ, Wang LH, Liao DL, Chen CH.

Clin Genet. 2008 Jun;73(6):585-90. doi: 10.1111/j.1399-0004.2008.00995.x. Epub 2008 Apr 8.

PMID:
18400035
8.

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
9.

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
10.

Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J.

Am J Hum Genet. 1995 Jun;56(6):1404-10.

11.
12.

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.

Laczmanska I, Stembalska A, Gil J, Czemarmazowicz H, Sasiadek M.

Eur J Med Genet. 2006 Jan-Feb;49(1):87-92. Epub 2005 Jul 6.

PMID:
16473315
13.

Inverted duplication with terminal deletion of 5p and no cat-like cry.

Wang JC, Coe BP, Lomax B, MacLeod PM, Parslow MI, Schein JE, Lam WL, Eydoux P.

Am J Med Genet A. 2008 May 1;146A(9):1173-9. doi: 10.1002/ajmg.a.32246.

PMID:
18266247
14.

Five novel genes from the cri-du-chat critical region isolated by direct selection.

Simmons AD, Goodart SA, Gallardo TD, Overhauser J, Lovett M.

Hum Mol Genet. 1995 Feb;4(2):295-302.

PMID:
7757083
15.

Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.

Medina M, Marinescu RC, Overhauser J, Kosik KS.

Genomics. 2000 Jan 15;63(2):157-64.

PMID:
10673328
16.

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
17.

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p.

Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ.

Genome Res. 1997 Aug;7(8):787-801.

18.

Mosaic cri-du-chat syndrome in a girl with a mild phenotype.

Moreira LM, de Carvalho AF, Borja AL, Pinto PS, Silveira A, de Freitas LM, Falc√£o Mde L.

J Appl Genet. 2008;49(4):415-20.

PMID:
19029689
19.

A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis.

Cornish KM, Cross G, Green A, Willatt L, Bradshaw JM.

J Med Genet. 1999 Jul;36(7):567-70.

20.

A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.

Krgovic D, Blatnik A, Burmas A, Zagorac A, Kokalj Vokac N.

BMC Med Genet. 2014 Feb 11;15:21. doi: 10.1186/1471-2350-15-21.

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