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Items: 1 to 20 of 59

1.

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Van Esch H, Jansen A, Bauters M, Froyen G, Fryns JP.

Am J Med Genet A. 2007 Feb 15;143(4):364-9.

PMID:
17256798
2.

Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp.

Kutsche K, Werner W, Bartsch O, von der Wense A, Meinecke P, Gal A.

Cytogenet Genome Res. 2002;99(1-4):297-302.

PMID:
12900578
3.
4.
5.

Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern.

Ogata T, Wakui K, Muroya K, Ohashi H, Matsuo N, Brown DM, Ishii T, Fukushima Y.

Hum Genet. 1998 Jul;103(1):51-6. Review.

PMID:
9737776
6.

Turner syndrome in a mother and daughter: r(X) and fertility.

Blumenthal AL, Allanson JE.

Clin Genet. 1997 Sep;52(3):187-91.

PMID:
9377811
7.
8.

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
9.

Dicentric isochromosome X with premature ovarian failure: report of two cases.

Wu MH, Tzeng CC, Kuo PL.

J Formos Med Assoc. 1993 Sep;92(9):848-50.

PMID:
7904872
10.

De novo X/X translocation in a patient with secondary amenorrhea.

Tarkan Y, Hacihanefioğlu S, Silahtaroğlu AN, Deviren A, Topçuoğlu D, Cenani A.

Hereditas. 1995;122(1):19-23.

11.

Detection of t(X;Y) in 2 XX males using fluorescent in situ hybridization.

Taiar N, Qumsiyeh MB, Croteau S, Rollet J, Benkhalifa M.

Ann Genet. 1995;38(2):102-5.

PMID:
7486824
12.

A duplication-deficiency X chromosome in a girl with severe mental retardation.

Sacchi N, Dalprà L, Kehyayan E.

Hum Genet. 1980;54(2):279-81.

PMID:
7390498
13.

Cd bands and centromeric function in dicentric chromosomes.

Maraschio P, Zuffardi O, Lo Curto F.

Hum Genet. 1980;54(2):265-7.

PMID:
7390495
14.

Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.

Pfeiffer RA.

Cytogenet Cell Genet. 1980;26(2-4):150-7.

PMID:
7389410
15.

Failure of X inactivation in the autosomal segment of an X/A translocation.

Palmer CG, Hubbard TW, Henry GW, Weaver DD.

Am J Hum Genet. 1980 Mar;32(2):179-87.

16.

[Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome].

Pescia G, Jotterand-Bellomo M, Nguyen TH, Scholberg-Hermann B.

J Genet Hum. 1980 Dec;28(4):131-40. French.

PMID:
7205197
17.

Phenotypically normal individuals with an inversion (X) (p22q13) and the recombinant (X), dup q.

Buckton KE, Newton MS, Collyer S, Lee M, Spowart G, Seabright M, Sanger R.

Ann Hum Genet. 1981 May;45(Pt 2):159-68.

PMID:
7198426
18.

Further observations on a 13qXp translocation associated with retinoblastoma.

Nichols WW, Miller RC, Sobel M, Hoffman E, Sparkes RS, Mohandas T, Veomett I, Davis JR.

Am J Ophthalmol. 1980 May;89(5):621-7.

PMID:
7189644
19.

Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma.

Ejima Y, Sasaki MS, Kaneko A, Tanooka H, Hara Y, Hida T, Kinoshita Y.

Clin Genet. 1982 Jun;21(6):357-61.

PMID:
7127878
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