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Items: 1 to 20 of 226

1.

46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.

Andrade JG, Guerra-Júnior G, Maciel-Guerra AT.

Arq Bras Endocrinol Metabol. 2010 Mar;54(3):331-4.

2.

Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype.

Queipo G, Nieto K, Grether P, Frías S, Alvarez R, Palma I, Eraña L, Peña YR, Kofman-Alfaro S.

Am J Med Genet A. 2005 Aug 1;136A(4):386-9.

PMID:
16007601
3.

Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.

Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM 3rd, Migeon CJ, Perlman EJ.

Medicine (Baltimore). 1991 Nov;70(6):375-83.

PMID:
1956279
4.

Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients.

Méndez JP, Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinick O, Fernández-del-Castillo C, Reyes E, Pérez-Palacios G.

Am J Med Genet. 1993 May 15;46(3):263-7.

PMID:
8488868
5.

Mixed gonadal dysgenesis with normal karyotype: a rare case report.

Anand A, Gupta NP, Singh MK, Mathur SR, Nayyar R.

Indian J Pathol Microbiol. 2010 Apr-Jun;53(2):313-5. doi: 10.4103/0377-4929.64297.

6.

Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum.

Alvarez-Nava F, Gonzalez S, Soto S, Pineda L, Morales-Machin A.

Genet Couns. 1999;10(3):233-43.

PMID:
10546094
7.

Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.

Siklar Z, Berberoğlu M, Adiyaman P, Salih M, Tükün A, Cetinkaya E, Aycan Z, Evliyaoğlu O, Ergur AT, Oçal G.

Pediatr Endocrinol Rev. 2007 Mar;4(3):210-7. Erratum in: Pediatr Endocrinol Rev. 2007 Dec;5(2):678.

PMID:
17551482
8.

[Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation].

Verkauskas G, Macianskyte D, Janciauskas D, Preiksa RT, Verkauskiene R, Jaubert F.

Medicina (Kaunas). 2009;45(5):357-64. Lithuanian.

9.

[Mixed gonadal dysgenesis].

Nonomura K, Kakizaki H, Shibata T, Moriya K.

Nihon Rinsho. 2004 Feb;62(2):313-9. Review. Japanese.

PMID:
14968538
10.

Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.

Farrugia MK, Sebire NJ, Achermann JC, Eisawi A, Duffy PG, Mushtaq I.

J Pediatr Urol. 2013 Apr;9(2):139-44. doi: 10.1016/j.jpurol.2011.12.012. Epub 2012 Jan 26.

11.

A case of mixed gonadal dysgenesis (MGD)--with a review of MGD patients reported in Japan.

Yamakita N, Yasuda K, Mori H, Kuriyama M, Kumamoto Y, Miura K.

Jpn J Med. 1989 Nov-Dec;28(6):744-52. Review.

12.

Management of phenotypic female patients with an XY karyotype.

Portuondo JA, Neyro JL, Barral A, Gonzalez-Gorospe F, Benito JA.

J Reprod Med. 1986 Jul;31(7):611-5.

PMID:
3091820
13.

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred.

Le Caignec C, Baron S, McElreavey K, Joubert M, Rival JM, Mechinaud F, David A.

Am J Med Genet A. 2003 Jan 1;116A(1):37-43.

PMID:
12476449
14.

Mixed gonadal dysgenesis.

Zäh W, Kalderon AE, Tucci JR.

Acta Endocrinol Suppl (Copenh). 1975;197:1-39. Review.

PMID:
1094776
15.

Mixed gonadal dysgenesis: histological and ultrastructural findings in two cases.

Calabrese F, Valente M.

Int J Gynecol Pathol. 1996 Jul;15(3):270-5.

PMID:
8811390
16.

Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review.

Sugarman ID, Crolla JA, Malone PS.

Clin Genet. 1994 Oct;46(4):313-5.

PMID:
7834898
17.

45,X/46,XY mosaicism: report of 27 cases.

Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL.

Pediatrics. 1999 Aug;104(2 Pt 1):304-8.

PMID:
10429013
18.

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, Berkovitz GD.

Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8590-4.

19.

Phenotypic spectrum of 45,X/46,XY individuals.

Rosenberg C, Frota-Pessoa O, Vianna-Morgante AM, Chu TH.

Am J Med Genet. 1987 Jul;27(3):553-9.

PMID:
3631129
20.

Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.

Nishina-Uchida N, Fukuzawa R, Hasegawa Y, Morison IM.

Medicine (Baltimore). 2015 Apr;94(14):e720. doi: 10.1097/MD.0000000000000720.

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