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Items: 1 to 20 of 1467

1.

Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.

Caglayan AO, Demiryilmaz F, Kendirci M, Ozyazgan I, Akalin H, Bittmann S.

Genet Couns. 2009;20(2):173-9.

PMID:
19650415
2.
3.

Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?

Shinawi M, Cain MP, Vanderbrink BA, Grignon DJ, Mensing D, Cooper ML, Bader P, Cheung SW.

Am J Med Genet A. 2010 Jul;152A(7):1832-7. doi: 10.1002/ajmg.a.33475.

PMID:
20583182
4.

Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male.

Lopez-Valdes JA, Nieto K, Najera N, Cervantes A, Kofman-Alfaro S, Queipo G.

Sex Dev. 2009;3(4):177-82. doi: 10.1159/000228717. Epub 2009 Sep 11.

PMID:
19752596
5.

Discordant phenotypes and 45,X/46,X,idic(Y).

Kelly TE, Franko JB, Rogol A, Golden WL.

J Med Genet. 1998 Oct;35(10):862-4.

6.

Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis.

Aktas D, Alikasifoglu M, Gonc N, Senocak ME, Tuncbilek E.

Eur J Med Genet. 2006 Mar-Apr;49(2):141-9. Epub 2005 Jul 1.

PMID:
16530711
7.

Cytogenetic and molecular characterization of two isodicentric Y chromosomes.

Stankiewicz P, Hélias-Rodzewicz Z, Jakubów-Durska K, Bocian E, Obersztyn E, Rappold GA, Mazurczak T.

Am J Med Genet. 2001 Jun 1;101(1):20-5.

PMID:
11343332
8.

Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome.

Al-Awadi SA, Cuschieri A, Farag TI, Naguib K, Teebi AS, Issa M, El-Sayed M.

Clin Genet. 1983 Feb;23(2):172-6.

PMID:
6682358
9.

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
10.

Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.

Reshmi SC, Miller JL, Deplewski D, Close C, Henderson LJ, Littlejohn E, Schwartz S, Waggoner DJ.

Eur J Med Genet. 2011 Mar-Apr;54(2):161-4. doi: 10.1016/j.ejmg.2010.11.002. Epub 2010 Nov 13.

PMID:
21078420
11.

Laparoscopic gonadectomy in a case of a dicentric fluorescent Y-chromosome mosaicism with Turner-like phenotype and virilized external genitalia.

Takeuchi K, Oomori S, Oda N, Takekida S, Kondo H, Maruo T.

Eur J Gynaecol Oncol. 2003;24(5):379-80.

PMID:
14584649
12.

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies.

Maciel-Guerra AT, Paulo JD, Santos AP, Guaragna-Filho G, Andrade JG, Siviero-Miachon AA, Spinola-Castro AM, Guerra-Júnior G.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):545-51.

13.

Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis.

Kohn B, Kleyman SM, Conte RA, Macera MJ, Glassberg K, Verma RS.

Ann Genet. 1997;40(1):10-3.

PMID:
9150844
14.

Turner syndrome and 45,X/47,XXX mosaicism.

Akbas E, Mutluhan H, Savasoglu K, Soylemez F, Ozturk I, Yazici G.

Genet Couns. 2009;20(2):141-6.

PMID:
19650411
15.

[45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12) mosaicism in a female patient with gonadal dysgenesis and the stigmata of Turner's syndrome].

Gil R, Galán F, López-Ginés C, Gregori-Romero M, Millet A, Pellín A, Llombart-Bosch A.

Rev Clin Esp. 1991 Jun;189(1):23-5. Spanish.

PMID:
1924922
16.

[Y chromosome structural abnormalities and Turner's syndrome].

Ravel C, Siffroi JP.

Gynecol Obstet Fertil. 2009 Jun;37(6):511-8. doi: 10.1016/j.gyobfe.2009.04.018. Epub 2009 May 22. French.

PMID:
19464936
17.

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.

Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, Kolon TF.

Am J Med Genet A. 2008 Jul 15;146A(14):1828-31. doi: 10.1002/ajmg.a.32358.

PMID:
18553511
18.

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.

Nishi MY, Costa EM, Oliveira SB, Mendonca BB, Domenice S.

Horm Res Paediatr. 2011;75(1):26-31. doi: 10.1159/000316536. Epub 2010 Aug 12.

PMID:
20699606
19.

Analysis of the SRY gene in a girl with 45,X/46,XY genotype.

Akbas E, Soylemez F, Hallioglu O, Polat S, Turkoz G.

Genet Couns. 2009;20(3):249-54.

PMID:
19852431
20.

Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD).

Mekkawy M, Kamel A, El-Ruby M, Mohamed A, Essawi M, Soliman H, Dessouky N, Shehab M, Mazen I.

Am J Med Genet A. 2012 Jul;158A(7):1594-603. doi: 10.1002/ajmg.a.35487. Epub 2012 May 24.

PMID:
22628100

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