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Items: 1 to 20 of 125

1.

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes.

Chen CP, Huang MC, Chen YY, Chern SR, Wu PS, Su JW, Town DD, Wang W.

Gene. 2013 Jul 25;524(2):407-11. doi: 10.1016/j.gene.2013.03.003. Epub 2013 Mar 14.

PMID:
23500598
2.

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
3.

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
4.

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
5.

[Prenatal diagnosis of the cri-du-chat syndrome in the case of balanced 5p--; 18p+ translocation in the mother].

Zolotukhina TV, Butomo IV, Rozovskiĭ IS, Grinberg KN.

Genetika. 1981;17(7):1304-8. Russian.

PMID:
7196856
6.

Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly.

Stefanou EG, Hanna G, Foakes A, Crocker M, Fitchett M.

Prenat Diagn. 2002 Jan;22(1):64-6.

PMID:
11810654
7.

Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin.

Weiss A, Shalev S, Weiner E, Shneor Y, Shalev E.

Prenat Diagn. 2003 Jul;23(7):572-4.

PMID:
12868086
9.

Cri-du-chat syndrome: clinical profile and prenatal diagnosis.

Tullu MS, Muranjan MN, Sharma SV, Sahu DR, Swami SR, Deshmukh CT, Bharucha BA.

J Postgrad Med. 1998 Oct-Dec;44(4):101-4.

10.

Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect.

Chen CP, Huang MC, Chen YY, Chern SR, Wu PS, Chen YT, Su JW, Wang W.

Gene. 2013 Dec 1;531(2):496-501. doi: 10.1016/j.gene.2013.09.010. Epub 2013 Sep 11.

PMID:
24036431
11.

Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH).

Pettenati MJ, Hayworth R, Cox K, Rao PN.

Clin Genet. 1994 Jan;45(1):17-20.

PMID:
8149646
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.

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Zhang B, Willing M, Grange DK, Shinawi M, Manwaring L, Vineyard M, Kulkarni S, Cottrell CE.

Am J Med Genet A. 2016 Mar;170(3):583-93. doi: 10.1002/ajmg.a.37445. Epub 2015 Nov 24.

PMID:
26601658
14.

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
15.

Prenatal diagnosis of 5p-.

David K, Kaffe S, Strauss L, Hsu LY, Serotkin A, Hirschhorn K.

Clin Genet. 1978 Feb;13(2):224-8.

PMID:
627112
16.

Prenatal diagnosis of cri du chat syndrome with encephalocele.

Bakkum JN, Watson WJ, Johansen KL, Brost BC.

Am J Perinatol. 2005 Oct;22(7):351-2.

PMID:
16215919
17.

Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes.

Chen CP, Huang JP, Chen YY, Chern SR, Wu PS, Su JW, Pan CW, Wang W.

Gene. 2013 Sep 25;527(2):636-41. doi: 10.1016/j.gene.2013.06.081. Epub 2013 Jul 11.

PMID:
23850725
18.

Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization.

Chen CP, Su YN, Chen CY, Su JW, Chern SR, Town DD, Wang W.

Taiwan J Obstet Gynecol. 2012 Sep;51(3):435-9. doi: 10.1016/j.tjog.2012.07.022.

19.

[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
20.

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

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