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Items: 1 to 20 of 495

1.

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.

Queipo G, Zenteno JC, Peña R, Nieto K, Radillo A, Dorantes LM, Eraña L, Lieberman E, Söderlund D, Jiménez AL, Ramón G, Kofman-Alfaro S.

Hum Genet. 2002 Sep;111(3):278-83. Epub 2002 Aug 1.

PMID:
12215841
2.

45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.

Nieto K, Peña R, Palma I, Dorantes LM, Eraña L, Alvarez R, García-Cavazos R, Kofman-Alfaro S, Queipo G.

Am J Med Genet A. 2004 Oct 15;130A(3):311-4.

PMID:
15378545
3.

Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes.

Torres L, López M, Méndez JP, Canto P, Cervantes A, Alfaro G, Pérez-Palacios G, Erickson RP, Kofman-Alfaro S.

Am J Med Genet. 1996 May 17;63(2):348-55.

PMID:
8725784
4.

[True hermaphroditism].

Naito K.

Nihon Rinsho. 2004 Feb;62(2):300-4. Review. Japanese.

PMID:
14968535
5.

Abnormalities of gonadal differentiation.

Berkovitz GD, Seeherunvong T.

Baillieres Clin Endocrinol Metab. 1998 Apr;12(1):133-42. Review.

PMID:
9890065
6.

Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absence of SRY sequence in gonadal tissue.

Domenice S, Nishi MY, Billerbeck AE, Carvalho FM, Frade EM, Latronico AC, Arnhold IJ, Mendonca BB.

Med Sci Monit. 2001 Mar-Apr;7(2):238-41.

PMID:
11257728
7.

True hermaphroditism: genetic variants and clinical management.

Hadjiathanasiou CG, Brauner R, Lortat-Jacob S, Nivot S, Jaubert F, Fellous M, Nihoul-Fékété C, Rappaport R.

J Pediatr. 1994 Nov;125(5 Pt 1):738-44.

PMID:
7965425
8.

Detection of the sex-determining region of the Y chromosome in 46,XX true hermaphroditism.

Kojima Y, Hayashi Y, Asai N, Maruyama T, Sasaki S, Kohri K.

Urol Int. 1998 Aug;60(4):235-8.

PMID:
9701737
9.

Sex-determining region Y (SRY) in a patient with 46,XX true hermaphroditism.

Tanoue A, Nakamura T, Endo F, Nishiyama S, Sakiyama H, Matsuda I.

Jpn J Hum Genet. 1992 Dec;37(4):311-20.

PMID:
1297452
10.

Sex-determining genes on mouse autosomes identified by linkage analysis of C57BL/6J-YPOS sex reversal.

Eicher EM, Washburn LL, Schork NJ, Lee BK, Shown EP, Xu X, Dredge RD, Pringle MJ, Page DC.

Nat Genet. 1996 Oct;14(2):206-9.

PMID:
8841197
11.

True hermaphroditism with ambiguous genitalia due to a complicated mosaic karyotype: clinical features, cytogenetic findings, and literature review.

Modan-Moses D, Litmanovitch T, Rienstein S, Meyerovitch J, Goldman B, Aviram-Goldring A.

Am J Med Genet A. 2003 Jan 30;116A(3):300-3. Review.

PMID:
12503111
12.

Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome.

Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M.

C R Acad Sci III. 1993;316(4):375-83.

PMID:
8402263
13.

Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences.

Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, et al.

Clin Endocrinol (Oxf). 1994 Jun;40(6):733-42.

PMID:
8033363
14.

True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.

Maier EM, Leitner C, Löhrs U, Kuhnle U.

J Pediatr Endocrinol Metab. 2003 Apr-May;16(4):575-80.

PMID:
12793612
15.

A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter-->q11::q11-->pter).

Fernandez R, Marchal JA, Sanchez A, Pasaro E.

Hum Genet. 2002 Sep;111(3):242-6. Epub 2002 Jul 20.

PMID:
12215836
16.

Accidental X-Y recombination and the aetiology of XX males and true hermaphrodites.

Ferguson-Smith MA, Affara NA.

Philos Trans R Soc Lond B Biol Sci. 1988 Dec 1;322(1208):133-44.

PMID:
2907797
17.

A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.

Inoue H, Nomura M, Yanase T, Ichino I, Goto K, Ikuyama S, Takayanagi R, Nawata H.

Intern Med. 1998 May;37(5):467-71.

18.

Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA.

Jiménez AL, Kofman-Alfaro S, Berumen J, Hernández E, Canto P, Méndez JP, Zenteno JC.

Am J Med Genet. 2000 Aug 28;93(5):417-20.

PMID:
10951467
19.

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.

Slaney SF, Chalmers IJ, Affara NA, Chitty LS.

J Med Genet. 1998 Jan;35(1):17-22. Review.

20.

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