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Results: 1 to 20 of 43

PubMed Links for Books (Select 2981944)

1.

Pericentric inversion causing duplication and deletion of chromosome region 13q22 --> qter in the offspring.

Patil SJ, Phadke SR.

Am J Med Genet A. 2007 Jan 1;143A(1):82-4. No abstract available.

PMID:
17163534
2.

Two unusual chromosome aberrations ascertained by sonographic anomalies.

Bourthoumieu S, Esclaire F, Terro F, Fiorenza M, Eyraud JL, Servaud M, Cantaloube M, Fermeaux V, Yardin C.

Prenat Diagn. 2004 Mar;24(3):219-23.

PMID:
15057957
3.

A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure.

Lespinasse J, North MO, Paravy C, Brunel MJ, Malzac P, Blouin JL.

Hum Reprod. 2003 Oct;18(10):2058-66.

4.

Multiplex-FISH for pre- and postnatal diagnostic applications.

Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Müller-Navia J, Cremer T, Murken J, Speicher MR.

Am J Hum Genet. 1999 Aug;65(2):448-62.

5.
6.

Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.

Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C.

Am J Med Genet. 1997 Oct 31;72(3):319-23. Review.

PMID:
9332662
7.

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
8.

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

Brown S, Gersen S, Anyane-Yeboa K, Warburton D.

Am J Med Genet. 1993 Jan 1;45(1):52-9. Review.

PMID:
8418661
9.

Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation.

Gordon PL, Dalton JD, Martens PR, Tharapel AT, Wilroy RS.

J Med Genet. 1993 May;30(5):414-6.

10.

Familial retinoblastoma: segregation of chromosome 13 in four families.

Knight LA, Gardner HA, Gallie BL.

Am J Hum Genet. 1980 Mar;32(2):194-201.

11.
12.

Unusual mosaicism of de novo structural abnormalities and ocular anomalies in a male with 13 trisomy syndrome.

Reardon PC, Greenstein RM, Howard RO, Gianacopolos EK, Breg WR.

Am J Med Genet. 1981;10(2):113-8.

PMID:
7315868
13.

Parental chromosome translocations and fetal loss.

Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N.

Obstet Gynecol. 1981 Oct;58(4):456-8.

PMID:
7279340
14.

Study of two cases of ring 13 chromosome using high-resolution banding.

Jones IM, Palmer CG, Weaver DD, Hodes ME.

Am J Hum Genet. 1981 Mar;33(2):252-61.

15.

Pericentric inversion (13) with two different recombinants in the same family.

Williamson EM, Miller JF, Seabright M.

J Med Genet. 1980 Aug;17(4):309-12.

16.
17.

The ring chromosome 13 syndrome.

Martin NJ, Harvey PJ, Pearn JH.

Hum Genet. 1982;61(1):18-23.

PMID:
7129419
18.

Familial pericentric inversion of chromosome 13 resulting in duplication 13q22 to qter.

Habedank M.

J Med Genet. 1982 Jun;19(3):227-9. No abstract available.

19.

Unusual 13/13 translocation and 13 trisomy phenotype.

Fryns JP, Kleczkowska A, Kubien E.

Ann Genet. 1982;25(2):113-5. No abstract available.

PMID:
6984626
20.

Two cases of ring chromosome 13. Chromosome banding patterns and mosaic configuration.

Steinbach P, Drews K, Horstmann W, Barbi G, Scholz W.

Ann Genet. 1981;24(3):152-7.

PMID:
6974524
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