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Items: 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
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
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
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
5.
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
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
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
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
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
11.
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
13.

Prometaphase chromosome analysis as a routine diagnostic technique.

Barnes IC, Maltby EL.

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

PMID:
3742844
14.

Clinical manifestations of trisomy 5q.

Kumar D, Heath PR, Blank CE.

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

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.

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
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
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
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
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