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Items: 1 to 20 of 39

1.

[3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].

LEJEUNE J, LAFOURCADE J, BERGER R, VIALATTE J, BOESWILLWALD M, SERINGE P, TURPIN R.

C R Hebd Seances Acad Sci. 1963 Nov 18;257:3098-102. French. No abstract available.

PMID:
14095841
2.

The first three mosaic cri du chat syndrome patients with two rearranged cell lines.

Perfumo C, Cerruti Mainardi P, Calí A, Coucourde G, Zara F, Cavani S, Overhauser J, Bricarelli FD, Pierluigi M.

J Med Genet. 2000 Dec;37(12):967-72. No abstract available.

3.

Psychomotor development in Cri du Chat Syndrome.

Cerruti Mainardi P, Guala A, Pastore G, Pozzo G, Dagna Bricarelli F, Pierluigi M.

Clin Genet. 2000 Jun;57(6):459-61. No abstract available. Erratum in: Clin Genet 2000 Aug;58(2):156.

PMID:
10905669
4.

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

Dipple KM, McCabe ER.

Am J Hum Genet. 2000 Jun;66(6):1729-35. Epub 2000 May 1. Review. No abstract available.

5.

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation.

Hand JL, Michels VV, Marinello MJ, Ketterling RP, Jalal SM.

Prenat Diagn. 2000 Feb;20(2):144-8; discussion 149-51.

PMID:
10694687
6.

Cri du chat syndrome: changing phenotype in older patients.

Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP.

Am J Med Genet. 2000 Jan 31;90(3):203-15.

PMID:
10678657
7.

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
8.

5p14 deletion associated with microcephaly and seizures.

Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J.

J Med Genet. 2000 Feb;37(2):125-7.

9.

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.

PMID:
10636446
10.

Methylenetetrahydrofolate reductase thermolabile variant and oral clefts.

Mills JL, Kirke PN, Molloy AM, Burke H, Conley MR, Lee YJ, Mayne PD, Weir DG, Scott JM.

Am J Med Genet. 1999 Sep 3;86(1):71-4.

PMID:
10440833
11.

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.

12.

Cognitive functioning in children with typical cri du chat (5p-) syndrome.

Cornish KM, Bramble D, Munir F, Pigram J.

Dev Med Child Neurol. 1999 Apr;41(4):263-6.

14.

Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval.

Simmons AD, Püschel AW, McPherson JD, Overhauser J, Lovett M.

Biochem Biophys Res Commun. 1998 Jan 26;242(3):685-91.

PMID:
9464278
15.

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.

16.

Presenilin 1 interaction in the brain with a novel member of the Armadillo family.

Zhou J, Liyanage U, Medina M, Ho C, Simmons AD, Lovett M, Kosik KS.

Neuroreport. 1997 May 27;8(8):2085-90.

PMID:
9223106
17.
18.

A comprehensive genetic map of the human genome based on 5,264 microsatellites.

Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J.

Nature. 1996 Mar 14;380(6570):152-4.

PMID:
8600387
19.

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
20.

A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene.

Sargent CA, Chalmers IJ, Leversha M, Affara NA.

Mamm Genome. 1994 Dec;5(12):791-6.

PMID:
7894161

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