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Results: 1 to 20 of 194

Similar articles for PubMed (Select 3417299)

1.

Chondrodysplasia punctata with X;Y translocation.

Agematsu K, Koike K, Morosawa H, Nakahori Y, Nakagome Y, Akabane T.

Hum Genet. 1988 Sep;80(1):105-7.

PMID:
3417299
2.

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.

Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G.

Clin Genet. 1988 Jul;34(1):31-7.

PMID:
3165728
4.

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.

Weil D, Portnoï MF, Levilliers J, Wang I, Mathieu M, Taillemite JL, Meier M, Boudailliez B, Petit C.

Hum Mol Genet. 1993 Nov;2(11):1853-6.

PMID:
8281147
5.

X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.

Van Maldergem L, Espeel M, Roels F, Petit C, Dacremont G, Wanders RJ, Verloes A, Gillerot Y.

Hum Genet. 1991 Oct;87(6):661-4.

PMID:
1937466
6.

Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.

Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, Vogt S, Claussen U, Zintl F, Rappold GA.

Clin Genet. 2001 Feb;59(2):115-21.

PMID:
11260213
7.

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
8.

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

Bukvic N, Carri VD, Di Cosola ML, Pustorino G, Cesarano C, Chetta M, Santacroce R, Sarno M, Sessa F, Longo V, Novelli A, Gentile M, Margaglione M.

Am J Med Genet A. 2010 Jul;152A(7):1730-4. doi: 10.1002/ajmg.a.33437.

PMID:
20578256
9.

Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype.

Magenis RE, Webb MJ, McKean RS, Tomar D, Allen LJ, Kammer H, Van Dyke DL, Lovrien E.

Hum Genet. 1982;62(3):271-6.

PMID:
6892019
10.

Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation.

Hunter AG, Rimoin DL, Koch UM, MacDonald GJ, Cox DM, Lachman RS, Adomian G.

Am J Med Genet. 1985 Jul;21(3):581-9.

PMID:
4025390
11.

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, et al.

Proc Natl Acad Sci U S A. 1989 Dec;86(24):10001-5.

12.

Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe.

Magenis RE, Casanova M, Fellous M, Olson S, Sheehy R.

Hum Genet. 1987 Mar;75(3):228-33.

PMID:
3557449
13.

Molecular detection of a translocation (Y;15) in a 45,X male.

Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, Hoar DI, Pagon RA, Page DC.

Hum Genet. 1986 Dec;74(4):372-7.

PMID:
3793100
14.

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
15.

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

Curry CJ, Magenis RE, Brown M, Lanman JT Jr, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ.

N Engl J Med. 1984 Oct 18;311(16):1010-5.

PMID:
6482910
16.

Refinement of the locus for X-linked recessive chondrodysplasia punctata.

Muroya K, Ogata T, Rappold G, Klink A, Nakahori Y, Fukushima Y, Aizu K, Matsuo N.

Hum Genet. 1995 May;95(5):577-80.

PMID:
7759082
17.

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.

Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P.

Am J Med Genet. 1991 Nov 1;41(2):184-7.

PMID:
1785631
18.

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.

Münke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT, Emanuel BS.

Hum Genet. 1988 Nov;80(3):219-23.

PMID:
3192211
19.

Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.

Andersson M, Page DC, Pettay D, Subrt I, Turleau C, de Grouchy J, de la Chapelle A.

Hum Genet. 1988 May;79(1):2-7.

PMID:
3163319
20.

De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities.

Johnston K, Schonberg S, Littman V, Gregory T, Gelbart S, O'Donnell J, Cox DR.

Am J Med Genet. 1987 Jul;27(3):603-11.

PMID:
3631132
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