186 related articles for article (PubMed ID: 10636446)
1. 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. PubMed ID: 10636446
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 9284926
[TBL] [Abstract][Full Text] [Related]
3. [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. PubMed ID: 23450488
[TBL] [Abstract][Full Text] [Related]
4. The natural history of Cri du Chat Syndrome. A report from the Italian Register.
Mainardi PC; Pastore G; Castronovo C; Godi M; Guala A; Tamiazzo S; Provera S; Pierluigi M; Bricarelli FD
Eur J Med Genet; 2006; 49(5):363-83. PubMed ID: 16473053
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.
Kondoh T; Shimokawa O; Harada N; Doi T; Yun C; Gohda Y; Kinoshita F; Matsumoto T; Moriuchi H
J Hum Genet; 2005; 50(1):26-29. PubMed ID: 15602631
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 24556499
[TBL] [Abstract][Full Text] [Related]
7. 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; 86(3):264-8. PubMed ID: 10482877
[TBL] [Abstract][Full Text] [Related]
8. [Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome].
He W; Chen H; Mu H; Li J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):104-106. PubMed ID: 29419873
[TBL] [Abstract][Full Text] [Related]
9. 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; 49(1):87-92. PubMed ID: 16473315
[TBL] [Abstract][Full Text] [Related]
10. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
Murru D; Boccone L; Ristaldi MS; Nucaro AL
Genet Couns; 2008; 19(4):381-6. PubMed ID: 19239081
[TBL] [Abstract][Full Text] [Related]
11. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome.
Mosca AL; Callier P; Leheup B; Marle N; Jalloul M; Coffinet L; Feillet F; Valduga M; Jonveaux P; Mugneret F
Am J Med Genet A; 2007 Jun; 143A(12):1342-7. PubMed ID: 17506096
[TBL] [Abstract][Full Text] [Related]
12. 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; 108(3):192-7. PubMed ID: 11891684
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 15733271
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 11810654
[TBL] [Abstract][Full Text] [Related]
15. 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; 24(1):63-8. PubMed ID: 7896290
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 24677774
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 9678410
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 23900752
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 26601658
[TBL] [Abstract][Full Text] [Related]
20. Variability in a family with an insertion involving 5p.
Marinescu RC; Mamunes P; Kline AD; Schmidt J; Rojas K; Overhauser J
Am J Med Genet; 1999 Sep; 86(3):258-63. PubMed ID: 10482876
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
