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Items: 1 to 20 of 35

1.
2.

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
3.

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.

4.

Cri du Chat syndrome.

Cerruti Mainardi P.

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

5.

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
6.

[The cat cry (cri du chat) syndrome: report of a case with review of 10 cases at the National Taiwan University Hospital].

Chuang SM, Wang TR, Jean HH, Lee FY.

Taiwan Yi Xue Hui Za Zhi. 1989 Jun;88(6):635-8, 628-9. Review. Chinese.

PMID:
2677233
7.

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
8.

A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature.

Iqbal MA, Ahmed MZ, Wu D, Sakati N.

Am J Med Genet. 1997 May 16;70(2):174-8. Review.

PMID:
9128939
9.

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
10.

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
11.

[Cat cry syndrome].

Tomita Y.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):314-5. Review. Japanese. No abstract available.

PMID:
11057242
12.

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1).

Sonoda T, Kawaguchi K, Ohba K, Madokoro H, Ohdo S.

Jinrui Idengaku Zasshi. 1989 Jun;34(2):129-34. Review.

PMID:
2671452
13.

Delineation of 14q32.3 deletion syndrome.

Ortigas AP, Stein CK, Thomson LL, Hoo JJ.

J Med Genet. 1997 Jun;34(6):515-7. Review.

14.

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.

15.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
16.

[Wolf-Hirschhorn syndrome, cat cry syndrome].

Miura K, Niikawa N.

Ryoikibetsu Shokogun Shirizu. 1996;(15):202-4. Review. Japanese. No abstract available.

PMID:
9047986
17.

B group short-arm deletion syndrome.

Sedano HO, Look RA, Carter C, Cohen MM Jr.

Birth Defects Orig Artic Ser. 1971 Jun;7(7):89-97. Review.

PMID:
4950926
18.

[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
19.

Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization.

Dostal A, Nemeckova J, Gaillyova R, Vranova V, Zezulkova D, Lejska M, Slapak I, Dostalova Z, Kuglik P.

Otol Neurotol. 2006 Apr;27(3):427-32. Review.

PMID:
16639285
20.

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