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Items: 5

1.

Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism.

Tyler CT, Rice GM, Grady M, Raca G.

Am J Med Genet A. 2009 Nov;149A(11):2588-92. doi: 10.1002/ajmg.a.33084. No abstract available.

PMID:
19876897
2.

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Michel-Calemard L, Rafat A, Zabot MT, Nicolino M, Guibaud L, Edery P.

Am J Med Genet A. 2009 Nov;149A(11):2584-7. doi: 10.1002/ajmg.a.32772. No abstract available.

PMID:
19504602
3.

Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature.

Schubert R, Eggermann T, Hofstaetter C, von Netzer B, Knöpfle G, Schwanitz G.

Am J Med Genet. 2002 Jul 1;110(3):278-82. Review.

PMID:
12116238
4.

45,X/47,XX, + 18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines.

Genuardi M, Pomponi MG, Torrisi L, Neri G, Stagni ML, Tozzi C.

J Med Genet. 1999 Jun;36(6):496-8. No abstract available.

5.

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.

Franceschini P, Guala A, Camerano P, Franceschini D, Vardeu MP, Signorile F.

Am J Med Genet. 1996 Mar 1;62(1):26-8.

PMID:
8779320

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