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Items: 1 to 20 of 102

1.

Description of children with 45,X/46,XY karyotype.

Tosson H, Rose SR, Gartner LA.

Eur J Pediatr. 2012 Mar;171(3):521-9. doi: 10.1007/s00431-011-1600-9. Epub 2011 Oct 14.

PMID:
21997800
2.

Children with 45,X/46,XY karyotype from birth to adult height.

Tosson H, Rose SR, Gartner LA.

Horm Res Paediatr. 2010;74(3):190-200. doi: 10.1159/000281468. Epub 2010 Apr 30.

PMID:
20431272
3.

The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?

Ocal G, Berberoğlu M, Sıklar Z, Ruhi HI, Tükün A, Camtosun E, Savaş Erdeve S, Hacıhamdioğlu B, Fitöz S.

Eur J Pediatr. 2012 Oct;171(10):1497-502. Epub 2012 May 30.

PMID:
22644991
4.

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
5.

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.

6.

45,X/46,XY mosaicism: a cause of short stature in males.

Efthymiadou A, Stefanou EG, Chrysis D.

Hormones (Athens). 2012 Oct-Dec;11(4):501-4.

7.

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.

dos Santos AP, Andrade JG, Piveta CS, de Paulo J, Guerra G Jr, de Mello MP, Maciel-Guerra AT.

BMC Med Genet. 2013 Nov 5;14:115. doi: 10.1186/1471-2350-14-115.

8.

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.

Cantrell MA, Bicknell JN, Pagon RA, Page DC, Walker DC, Saal HM, Zinn AB, Disteche CM.

Hum Genet. 1989 Aug;83(1):88-92.

PMID:
2570023
9.

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.

10.

Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life.

Gunther DF, Eugster E, Zagar AJ, Bryant CG, Davenport ML, Quigley CA.

Pediatrics. 2004 Sep;114(3):640-4.

PMID:
15342833
11.

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
12.

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
13.

[The diagnosis, treatment and following up of 7 patients with 45, X/46, XY mixed gonadal dysgenesis].

Chen G, Dou J, Yang G, Gu W, Du J, Chen K, Zang L, Jin N, Wang X, Yang L, Lyu Z, Ba J, Lu J, Li J, Pan C, Mu Y.

Zhonghua Nei Ke Za Zhi. 2015 Nov;54(11):954-8. Chinese.

PMID:
26759215
14.

Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex.

Tho SP, Jackson R, Kulharya AS, Reindollar RH, Layman LC, McDonough PG.

Am J Med Genet A. 2007 Nov 1;143A(21):2616-22.

PMID:
17935253
15.

Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

Frelich A, Frelich J, Jeż W, Irzyniec T.

Endokrynol Pol. 2017;68(1):47-52. doi: 10.5603/EP.a2016.0063. Epub 2016 Nov 9.

16.

Turner syndrome and associated problems in Turkish children: a multicenter study.

Yeşilkaya E, Bereket A, Darendeliler F, Baş F, Poyrazoğlu Ş, Küçükemre Aydın B, Darcan Ş, Dündar B, Büyükinan M, Kara C, Sarı E, Adal E, Akıncı A, Atabek ME, Demirel F, Çelik N, Özkan B, Özhan B, Orbak Z, Ersoy B, Doğan M, Ataş A, Turan S, Gökşen D, Tarım Ö, Yüksel B, Ercan O, Hatun Ş, Şimşek E, Ökten A, Abacı A, Döneray H, Özbek MN, Keskin M, Önal H, Akyürek N, Bulan K, Tepe D, Emeksiz HC, Demir K, Kızılay D, Topaloğlu AK, Eren E, Özen S, Abalı S, Akın L, Selver Eklioğlu B, Kaba S, Anık A, Baş S, Ünüvar T, Sağlam H, Bolu S, Özgen T, Doğan D, Deniz Çakır E, Şen Y, Andıran N, Çizmecioğlu F, Evliyaoğlu O, Karagüzel G, Pirgon Ö, Çatlı G, Can HD, Gürbüz F, Binay Ç, Baş VN, Fidancı K, Polat A, Gül D, Açıkel C, Demirbilek H, Cinaz P, Bondy C.

J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):27-36. doi: 10.4274/jcrpe.1771.

17.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

Sari E, Bereket A, Yeşilkaya E, Baş F, Bundak R, Aydın BK, Darcan Ş, Dündar B, Büyükinan M, Kara C, Adal E, Akıncı A, Atabek ME, Demirel F, Çelik N, Özkan B, Özhan B, Orbak Z, Ersoy B, Doğan M, Ataş A, Turan S, Gökşen D, Tarım Ö, Yüksel B, Ercan O, Hatun Ş, Şimşek E, Ökten A, Abacı A, Döneray H, Özbek MN, Keskin M, Önal H, Akyürek N, Bulan K, Tepe D, Emeksiz HC, Demir K, Kızılay D, Topaloğlu AK, Eren E, Özen S, Demirbilek H, Abalı S, Akın L, Eklioğlu BS, Kaba S, Anık A, Baş S, Unuvar T, Sağlam H, Bolu S, Özgen T, Doğan D, Çakır ED, Şen Y, Andıran N, Çizmecioğlu F, Evliyaoğlu O, Karagüzel G, Pirgon Ö, Çatlı G, Can HD, Gürbüz F, Binay Ç, Baş VN, Fidancı K, Gül D, Polat A, Acıkel C, Cinaz P, Darendeliler F.

Am J Med Genet A. 2016 Apr;170A(4):942-8. doi: 10.1002/ajmg.a.37498. Epub 2016 Jan 20.

PMID:
26788866
18.

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.

19.

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.

20.

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

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