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Items: 13

1.

Translocation breakpoint in two unrelated Tourette syndrome cases, within a region previously linked to the disorder.

Crawford FC, Ait-Ghezala G, Morris M, Sutcliffe MJ, Hauser RA, Silver AA, Mullan MJ.

Hum Genet. 2003 Jul;113(2):154-61. Epub 2003 Apr 16.

PMID:
12698358
2.

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.

Calabrese G, Stuppia L, Morizio E, Guanciali Franchi P, Pompetti F, Mingarelli R, Marsilio T, Rocchi M, Gallenga PE, Palka G, Dallapiccola B.

Eur J Hum Genet. 1998 May-Jun;6(3):187-93.

3.

VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2).

Giltay JC, Bokma JA, de France H, Beemer FA.

Clin Genet. 1998 Jan;53(1):74-8.

PMID:
9550367
5.

No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome.

Gorlin RJ, Cervenka J, Bloom BA, Langer LO Jr.

Am J Med Genet. 1982 Nov;13(3):345-7. No abstract available.

PMID:
6983832
6.

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.

Langer LO Jr, Krassikoff N, Laxova R, Scheer-Williams M, Lutter LD, Gorlin RJ, Jennings CG, Day DW.

Am J Med Genet. 1984 Sep;19(1):81-112.

PMID:
6496574
8.

Fetal karyotype following ascertainment of fetal anomalies by ultrasound.

Palmer CG, Miles JH, Howard-Peebles PN, Magenis RE, Patil S, Friedman JM.

Prenat Diagn. 1987 Oct;7(8):551-5.

PMID:
3317386
9.

Karyotypes of 1142 couples with recurrent abortion.

Portnoï MF, Joye N, van den Akker J, Morlier G, Taillemite JL.

Obstet Gynecol. 1988 Jul;72(1):31-4.

PMID:
3242501
12.

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

Stengel-Rutkowski S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A, Belohradsky B.

Clin Genet. 1992 Oct;42(4):178-85. Review.

PMID:
1424241
13.

Presumptive long arm deletion of chromosome 8: a new syndrome?

Taysi K, Noetzel MJ, Strauss AW.

Hum Genet. 1979 Sep 2;51(1):49-53.

PMID:
500091

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