✦ LIBER ✦

Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure

✍ Scribed by Kim, Mi Kyoung (author);Seok, Hyun Ha (author);Kim, You Shin (author);Chin, Mi Uk (author);Sung, Se Ra (author);Lee, Woo Sik (author);Shim, Sung Han (author);Yoon, Tae Ki (author)

Book ID: 121376006
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 995 KB
Volume: 534
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2013.10.026

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular genetic and cytogenetic charac

Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure

✍ Kim, Mi Kyoung (author);Seok, Hyun Ha (author);Kim, You Shin (author);Chin, Mi U 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 995 KB

A further rec(X)dup p and compilation of

A further rec(X)dup p and compilation of 23 cases. Comment on “Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure” by Kim et al. Gene, 2014. http://dx.doi.org/10.1016/j.gene.2013.10.026

✍ Ramírez-Velasco, Azubel; Rivera, Horacio 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 423 KB

Molecular cytogenetic characterization a

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication

✍ Lucia Margari; Maria Luisa Di Cosola; Maura Buttiglione; Angela Pansini; Antonia 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB

Cytogenetic and molecular characterizati

Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter

✍ Carlos A. Tirado 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 43 KB 👁 3 views

Please note that Figure 2A needed correction. [A] FISH using subtelomere probes [TelVysion 2p Spectrum green (VIJyRM2052) and TelVysion 2q Spectrum orange (VIJyRM2123)] from Abbott Molecular. The legend is correct; however, the chromosome on the left should have a red signal designated with q and n

Cytogenetic and molecular characterizati

Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter

✍ Carlos A. Tirado; Samuel Henderson; Naseem Uddin; Ewa Stewart; Santha Iyer; Ian 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 3 views

Molecular cytogenetic characterization o

Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome

✍ Cargile, Colyn B. ;Goh, Denise L.-M. ;Goodman, Barbara K. ;Chen, Xiao-Ning ;Kore 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 2 views

## Abstract Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consi