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Items: 13

1.

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
2.

Cri du Chat syndrome.

Cerruti Mainardi P.

Orphanet J Rare Dis. 2006 Sep 5;1:33. Review.

3.

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
4.

De novo complete trisomy 5p: clinical report and FISH studies.

Reichenbach H, Holland H, Dalitz E, Demandt C, Meiner A, Chudoba I, Lemke J, Claussen U, Froster UG.

Am J Med Genet. 1999 Aug 27;85(5):447-51. Review.

PMID:
10405440
5.

Delta-catenin at the synaptic-adherens junction.

Kosik KS, Donahue CP, Israely I, Liu X, Ochiishi T.

Trends Cell Biol. 2005 Mar;15(3):172-8. Review.

PMID:
15752981
6.

Phenotypic and phoniatric findings in mosaic cri du chat syndrome.

Romano C, Ragusa RM, Scillato F, Greco D, Amato G, Barletta C.

Am J Med Genet. 1991 Jun 15;39(4):391-5. Review.

PMID:
1877615
7.

[Prognosis in the cri-du-chat syndrome].

Oosterwijk JC, Verboom AJ, Bijlsma JB.

Tijdschr Kindergeneeskd. 1987 Dec;55(6):226-33. Review. Dutch.

PMID:
3327195
8.

Two cases of deletion 5p syndrome: one with paternal involvement and another with atypical presentation.

Azman BZ, Akhir SM, Zilfalil BA, Ankathil R.

Singapore Med J. 2008 Apr;49(4):e98-e100. Review.

9.

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G.

Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Review.

PMID:
18932124
10.

Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).

Cervera M, Sánchez S, Molina B, Alcántara MA, Del Castillo V, Carnevale A, González-del Angel A.

Am J Med Genet A. 2005 Aug 1;136A(4):381-5. Review.

PMID:
16001443
11.

Cri du chat syndrome: a critical review.

Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G.

Med Oral Patol Oral Cir Bucal. 2010 May 1;15(3):e473-8. Review.

12.

5p deletions: Current knowledge and future directions.

Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ.

Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38. doi: 10.1002/ajmg.c.31444. Epub 2015 Aug 3. Review.

13.

Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases.

Lu Q, Aguilar BJ, Li M, Jiang Y, Chen YH.

Hum Genet. 2016 Oct;135(10):1107-16. doi: 10.1007/s00439-016-1705-3. Epub 2016 Jul 5. Review.

PMID:
27380241

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