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Results: 19

1.

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
[PubMed - indexed for MEDLINE]
2.

Identification of a dup(5)(p15.3) by multicolor banding.

Riordan D, Vust A, Wickstrom DE, Brown J, Chudley AE, Tomkins D, Chudoba I, Dawson AJ.

Clin Genet. 2002 Apr;61(4):277-82.

PMID:
12030892
[PubMed - indexed for MEDLINE]
3.

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.

Hum Genet. 2001 Sep;109(3):286-94.

PMID:
11702209
[PubMed - indexed for MEDLINE]
4.

Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics.

Tönnies H, Stumm M, Wegner RD, Chudoba I, Kalscheuer V, Neitzel H.

Cytogenet Cell Genet. 2001;93(3-4):188-94.

PMID:
11528111
[PubMed - indexed for MEDLINE]
5.

A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements.

Reddy KS, Fugate JK.

Clin Genet. 1999 Oct;56(4):328-32. No abstract available.

PMID:
10636453
[PubMed - indexed for MEDLINE]
6.

Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24).

Aviram-Goldring A, Daniely M, Frydman M, Shneyour Y, Cohen H, Barkai G.

Am J Med Genet. 2000 Jan 17;90(2):120-2.

PMID:
10607949
[PubMed - indexed for MEDLINE]
7.

Chromosome healing of constitutional chromosome deletions studied by microdissection.

Vermeesch JR, Falzetti D, Van Buggenhout G, Fryns JP, Marynen P.

Cytogenet Cell Genet. 1998;81(1):68-72.

PMID:
9691179
[PubMed - indexed for MEDLINE]
8.

Method for sequential staining of GTL-banded metaphases with fluorescent-labeled chromosome-specific paint probes.

Jalal SM, Law ME, Christensen ER, Spurbeck JL, Dewald GW.

Am J Med Genet. 1993 Apr 1;46(1):98-103.

PMID:
8494038
[PubMed - indexed for MEDLINE]
9.

Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality.

Migliori MV, Cherubini V, Bartolotta E, Pettinari A, Pecora R.

Am J Med Genet. 1994 Jan 1;49(1):108-10.

PMID:
8172236
[PubMed - indexed for MEDLINE]
10.

Case reports of autism with interstitial deletion of chromosome 17 (p11.2 p11.2) and monosomy of chromosome 5 (5pter-->5p15.3).

Vostanis P, Harrington R, Prendergast M, Farndon P.

Psychiatr Genet. 1994 Summer;4(2):109-11.

PMID:
8055249
[PubMed - indexed for MEDLINE]
11.

Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10.

Arts WF, Hofstee Y, Drejer GF, Beverstock GC, Oosterwijk JC.

Neuropediatrics. 1995 Feb;26(1):41-4.

PMID:
7791950
[PubMed - indexed for MEDLINE]
12.

"Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents.

Wenger SL, Steele MW, Boone LY, Lenkey SG, Cummins JH, Chen XQ.

Am J Med Genet. 1995 Jan 2;55(1):47-52.

PMID:
7702096
[PubMed - indexed for MEDLINE]
13.

Prometaphase chromosome analysis as a routine diagnostic technique.

Barnes IC, Maltby EL.

Clin Genet. 1986 May;29(5):378-83.

PMID:
3742844
[PubMed - indexed for MEDLINE]
14.

Clinical manifestations of trisomy 5q.

Kumar D, Heath PR, Blank CE.

J Med Genet. 1987 Mar;24(3):180-4.

PMID:
3573004
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A fine structure physical map of the short arm of chromosome 5.

Overhauser J, Beaudet AL, Wasmuth JJ.

Am J Hum Genet. 1986 Nov;39(5):562-72.

PMID:
2878609
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[Diagnosis of minor chromosome modifications by molecular cytogenetics].

Taviaux S, Moncla A, Giraud F, Demaille J, Mattei JF, Mattei MG.

Ann Genet. 1989;32(4):204-10. French.

PMID:
2610486
[PubMed - indexed for MEDLINE]
17.

5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly.

Zhang SZ, Tang YC, Dai FP, Niebuhr E.

Clin Genet. 1990 Feb;37(2):153-7.

PMID:
2311266
[PubMed - indexed for MEDLINE]
18.

Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization.

Viljoen DL, Speleman F, Smart R, Van Roy N, du Toit J, Leroy J.

Clin Genet. 1992 Sep;42(3):105-9.

PMID:
1395079
[PubMed - indexed for MEDLINE]
19.

Systematic analysis of 95 reciprocal translocations of autosomes.

Aurias A, Prieur M, Dutrillaux B, Lejeune J.

Hum Genet. 1978 Dec 29;45(3):259-82.

PMID:
738728
[PubMed - indexed for MEDLINE]

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