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Items: 1 to 20 of 21

1.

Partial trisomy 8q and partial monosomy 18p: a case report.

Puvabanditsin S, Garrow E, Rabi FA, Titapiwatanakun R, Kuniyoshi KM.

Ann Genet. 2004 Oct-Dec;47(4):399-403.

PMID:
15581839
2.

Truncus arteriosus and duplication 8q.

Digilio MC, Angioni A, Giannotti A, Dallapiccola B, Marino B.

Am J Med Genet A. 2003 Aug 15;121A(1):79-81. No abstract available.

PMID:
12900908
3.

Prenatal diagnosis of chromosome disorders in Tunisian population.

Chaabouni H, Chaabouni M, Maazoul F, M'Rad R, Jemaa LB, Smaoui N, Terras K, Kammoun H, Belghith N, Ridene H, Oueslati B, Zouari F.

Ann Genet. 2001 Apr-Jun;44(2):99-104.

PMID:
11522249
4.

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.

J Med Genet. 2000 Apr;37(4):281-6.

5.

Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion.

Sangha KK, Stephenson MD, Brown CJ, Robinson WP.

Am J Hum Genet. 1999 Sep;65(3):913-7. No abstract available.

6.

Interstitial duplication 8q22-q24: report of a case proven by FISH with mapped cosmid probes.

Wakui K, Ohashi H, Yamagishi A, Hamano S, Nara T, Ishikiriyama S, Nakamura Y, Fukushima Y.

Am J Med Genet. 1996 Oct 2;65(1):36-9. Review.

PMID:
8914738
7.

Segregation analysis of rare autosomal folate sensitive fragile sites.

Samadder P, Evans JA, Chudley AE.

Am J Med Genet. 1993 Apr 15;46(2):165-71.

PMID:
8484403
8.

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.

van den Ouweland AM, de Vries BB, Bakker PL, Deelen WH, de Graaff E, van Hemel JO, Oostra BA, Niermeijer MF, Halley DJ.

Am J Med Genet. 1994 Jul 15;51(4):482-5.

PMID:
7943024
9.

Langer-Giedion syndrome with interstitial 8q-deletion.

Zabel BU, Baumann WA.

Am J Med Genet. 1982 Mar;11(3):353-8.

PMID:
7081298
10.

Two human c-onc genes are located on the long arm of chromosome 8.

Neel BG, Jhanwar SC, Chaganti RS, Hayward WS.

Proc Natl Acad Sci U S A. 1982 Dec;79(24):7842-6.

11.

Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.

Wilson WG, Wyandt HE, Shah H.

Am J Dis Child. 1983 May;137(5):444-8.

PMID:
6601906
12.

Paracentric inversions in man.

Madan K, Seabright M, Lindenbaum RH, Bobrow M.

J Med Genet. 1984 Dec;21(6):407-12. Review.

13.

[Translocation 8-22 with no length change and partial trisomy for 8q. Detection by heat denaturation].

Lejeune J, Rethore MO, Dutrillaux B, Martin G.

Exp Cell Res. 1972 Sep;74(1):293-5. French. No abstract available.

PMID:
5073314
14.
15.

Double independent balanced translocation in a girl with mild phenotypical stigmata.

D'Avanzo MG, Colantuoni M, Sirone P, de Castris L, Perone L, Fiore M, Ventruto V.

Ann Genet. 1986;29(1):62-4.

PMID:
3487281
16.

Institutional screening for the fragile X syndrome.

Hagerman R, Berry R, Jackson AW 3rd, Campbell J, Smith AC, McGavran L.

Am J Dis Child. 1988 Nov;142(11):1216-21.

PMID:
3177330
18.
19.

[Cytogenetic study of peripheral lymphocyte culture in couples with habitual abortion].

Junge A, Domke N, Tolkendorf E.

Zentralbl Gynakol. 1991;113(19):1046-52, 1057-8. Review. German.

PMID:
1962519

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