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Items: 1 to 20 of 33

1.

Ring chromosome 9 [r(9)(p24q34)]: a report of two cases.

Purandare SM, Lee J, Hassed S, Steele MI, Blackett PR, Mulvihill JJ, Li S.

Am J Med Genet A. 2005 Oct 15;138A(3):229-35.

PMID:
16158426
2.

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.

Veltman JA, Schoenmakers EF, Eussen BH, Janssen I, Merkx G, van Cleef B, van Ravenswaaij CM, Brunner HG, Smeets D, van Kessel AG.

Am J Hum Genet. 2002 May;70(5):1269-76. Epub 2002 Apr 9.

3.

Optic disc Drusen associated with trisomy 15q.

Wollenhaupt M, Palmer EA, Magenis E, Egan RA.

J AAPOS. 2002 Feb;6(1):49-50. No abstract available.

PMID:
11907479
4.

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R.

J Med Genet. 2001 Jun;38(6):417-20. No abstract available.

5.

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM.

J Med Genet. 2001 Mar;38(3):145-50.

6.

inv(9)(p24q13) in three sterile brothers.

Dávalos IP, Rivas F, Ramos AL, Galaviz C, Sandoval L, Rivera H.

Ann Genet. 2000 Jan-Mar;43(1):51-4. Review.

PMID:
10818222
7.

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT.

Am J Med Genet. 1999 Dec 22;87(5):384-90.

PMID:
10594875
8.

Unusual phenotype in partial trisomy 14.

Lemire EG, Cardwell S.

Am J Med Genet. 1999 Dec 3;87(4):294-6.

PMID:
10588832
9.

Subtle chromosomal rearrangements in children with unexplained mental retardation.

Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J.

Lancet. 1999 Nov 13;354(9191):1676-81.

PMID:
10568569
10.

Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome.

Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, Ogata T, Hoo JJ, Pinsky L, Gimelli G, Pasztor L, Goodfellow PN.

Am J Hum Genet. 1998 Sep;63(3):905-8. No abstract available.

11.
12.

Partial trisomy for long arm of chromosome 16.

Buckton KE, Barr DG.

J Med Genet. 1981 Dec;18(6):483. No abstract available.

13.

SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

Leschot NJ, Slater RM, Joenje H, Becker-Bloemkolk MJ, de Nef JJ.

Hum Genet. 1981;57(2):220-3.

PMID:
7228038
15.

Cytogenetic survey in couples with recurrent fetal wastage.

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

Hum Genet. 1984;65(4):336-54.

PMID:
6693122
16.

[Secondary 18q2 due to a paternal double translocation].

Bourrouillou G, Rolland M, Colombies P.

J Genet Hum. 1983 Sep;31(3):243-9. French.

PMID:
6655464
17.
18.

Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT1 and PGAMA to subbands 10q26.1 (or q25.3).

Junien C, Despoisse S, Turleau C, de Grouchy J, Bucher T, Fundele R.

Ann Genet. 1982;25(1):25-7.

PMID:
6282177
19.

[Monosomy for the centromeric regions of chromosome 21].

Rethoré MO, Dutrillaux B, Baheux G, Gerveaux J, Lejeune J.

Exp Cell Res. 1972 Feb;70(2):455-6. French. No abstract available.

PMID:
5058917
20.

[A case of annular chromosome 9. Indentification by controlled denaturation].

Fraisse J, Lauras B, Ooghe MJ, Freycon F, Rethoré MO.

Ann Genet. 1974 Sep;17(3):175-80. French. No abstract available.

PMID:
4548818
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