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Items: 7

1.

Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations.

Kalz-F├╝ller B, Sleegers E, Schwanitz G, Schubert R.

Clin Genet. 1999 May;55(5):362-6.

PMID:
10422808
2.

A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure.

Davison RM, Quilter CR, Webb J, Murray A, Fisher AM, Valentine A, Serhal P, Conway GS.

Hum Reprod. 1998 Nov;13(11):3039-41.

PMID:
9853851
3.

Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter).

Scheuerle A, Zenger-Hain JL, Van Dyke DL, Ledbetter DH, Greenberg F, Shaffer LG.

Am J Med Genet. 1995 May 8;56(4):403-8.

PMID:
7604850
4.

Non-mosaic isodicentric X-chromosome in a patient with secondary amenorrhea.

Ponzio G, Chiodo F, Messina M, Surico N, Libanori E, Folpini E, Porcelli A, Marchese C.

Clin Genet. 1987 Jul;32(1):20-3.

PMID:
3621650
5.

Prader-Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal Xq.

Ishikawa T, Kanayama M, Wada Y.

Clin Genet. 1987 Nov;32(5):295-9. Review.

PMID:
3319293
6.

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
7.

Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.

Mueller OT, Hartsfield JK Jr, Gallardo LA, Essig YP, Miller KL, Papenhausen PR, Tedesco TA.

Am J Hum Genet. 1991 Oct;49(4):804-10.

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