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Results: 1 to 20 of 22

1.

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP.

J Med Genet. 2004 Apr;41(4):241-8.

PMID:
15060094
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities.

Youings S, Ellis K, Ennis S, Barber J, Jacobs P.

Am J Med Genet A. 2004 Apr 1;126A(1):46-60.

PMID:
15039973
[PubMed - indexed for MEDLINE]
3.

Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements.

Simopoulou M, Harper JC, Fragouli E, Mantzouratou A, Speyer BE, Serhal P, Ranieri DM, Doshi A, Henderson J, Rodeck CH, Delhanty JD.

Prenat Diagn. 2003 Aug;23(8):652-62.

PMID:
12913872
[PubMed - indexed for MEDLINE]
4.

Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry.

Leonard NJ, Tomkins DJ.

Am J Med Genet. 2002 Sep 15;112(1):86-90.

PMID:
12239727
[PubMed - indexed for MEDLINE]
5.

Neocentromere formation in a stable ring 1p32-p36.1 chromosome.

Slater HR, Nouri S, Earle E, Lo AW, Hale LG, Choo KH.

J Med Genet. 1999 Dec;36(12):914-8.

PMID:
10593999
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly.

Joyce CA, Cabral de Almeida JC, Santa Rose AA, Correia P, Moraes L, Bastos E, Llerena J Jr.

Clin Genet. 1999 Jul;56(1):86-92.

PMID:
10466423
[PubMed - indexed for MEDLINE]
7.

Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection.

van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, Krebs D, van der Ven H.

Mol Hum Reprod. 1997 Aug;3(8):699-704.

PMID:
9294854
[PubMed - indexed for MEDLINE]
Free Article
8.

Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience.

Barisić I, Zergollern L, Muzinić D, Hitrec V.

Clin Genet. 1996 Mar;49(3):145-51.

PMID:
8737980
[PubMed - indexed for MEDLINE]
9.

Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.

Estop AM, Bansal V, Lin A, Levinson F, Karlin SM, Surti U, Wenger SL, Steele MW.

Am J Med Genet. 1994 Feb 15;49(4):410-3. Review.

PMID:
8160735
[PubMed - indexed for MEDLINE]
10.

Familial hypogonadism with a balanced reciprocal 1;12 translocation.

Handelsman D, Smith A.

J Med Genet. 1983 Dec;20(6):478. No abstract available.

PMID:
6655681
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Repeated pregnancy loss.

FitzSimmons J, Wapner RJ, Jackson LG.

Am J Med Genet. 1983 Sep;16(1):7-13.

PMID:
6638072
[PubMed - indexed for MEDLINE]
12.

Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients.

Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H.

Acta Paediatr Scand Suppl. 1984;313:1-23.

PMID:
6241420
[PubMed - indexed for MEDLINE]
13.

Mapping human autosomes: evidence supporting assignment of rhesus to the short arm of chromosome No. 1.

Marsh WL, Chaganti RS, Gardner FH, Mayer K, Nowell PC, German J.

Science. 1974 Mar 8;183(4128):966-8.

PMID:
4204206
[PubMed - indexed for MEDLINE]
14.

Reciprocal translocation t(1;18)(p32;q21) in a patient with some phenotypical anomalies.

Gil R, López-Ginés C, Gregori-Romero M, Sánchez MD, Pellin A.

Hum Genet. 1987 Dec;77(4):384. No abstract available.

PMID:
3692481
[PubMed - indexed for MEDLINE]
16.

The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect?

Lindenbaum RH, Hultén M, McDermott A, Seabright M.

J Med Genet. 1985 Feb;22(1):24-8.

PMID:
3156995
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion.

de Perdigo A, Gabriel-Robez O, Rumpler Y.

Hum Genet. 1989 Oct;83(3):274-6.

PMID:
2793171
[PubMed - indexed for MEDLINE]
18.

Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories.

Daniel A, Hook EB, Wulf G.

Am J Med Genet. 1989 May;33(1):14-53.

PMID:
2750783
[PubMed - indexed for MEDLINE]
20.

A (1;17) translocation, balanced, plus trisomy 21, 47 chromosomes. Repository identification No. GM-201.

de la Chapelle A, Miller RC, Greene AE, Coriell LL.

Cytogenet Cell Genet. 1975;14(1):82-3. No abstract available.

PMID:
1132251
[PubMed - indexed for MEDLINE]

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