✦ LIBER ✦

Somatic mosaicism for deletion of the entireNF1gene identified by FISH

✍ Scribed by Bai-Lin Wu; Richard G. Boles; Hana Yaari; Stanislawa Weremowicz; Gretchen H. Schneider; B. R. Korf

Publisher: Springer
Year: 1997
Tongue: English
Weight: 242 KB
Volume: 99
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050341

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletion of the entireNF1 gene detected

Deletion of the entireNF1 gene detected by FISH: Four deletion patients associated with severe manifestations

✍ Wu, Bai-Lin ;Austin, Michele A. ;Schneider, Gretchen H. ;Boles, Richard G. ;Korf 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 646 KB

Genetic analysis of N F I has indicated a wide diversity of mutations, including chromosome rearrangements, deletions, insertions, duplications, and point mutations. Recently, five severely affected individuals have been found by Kayes et al. [1994] to have deletions encompassing the entire gene. Th

Somatic mosaicism of a greater than 1.7-

Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entireNF1 gene as verified by FISH: Further evidence for a contiguous gene syndrome in 17q11.2

✍ Streubel, Berthold; Latta, Elisabeth; Kehrer-Sawatzki, Hildegard; Hoffmann, Geor 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 3 views

We report on a third case with neurofibromatosis type 1 (NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa banded chromosomes and was confirmed by fluorescence in situ hybridization using the cosmids CO919 from the 5 region, GO21

Diagnosis of CMT1A duplications and HNPP

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory

✍ Shaffer, Lisa G.; Kennedy, Gilbert M.; Spikes, Aimee S.; Lupski, James R. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 2 views

## Charcot -Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb regio

Assignment of the gene for uroporphyrino

Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay

✍ H. Verneuil; B. Grandchamp; Chantal Foubert; Dominique Weil; Cong N'Guyen; Marie 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 304 KB

A specific enzyme immunoassay of uroporphyrinogen decarboxylase was developed and applied to the detection of the human enzyme in man-rodent somatic cell hybrids. This method allowed to assign the gene for uroporphyrinogen decarboxylase to human chromosome 1.

Chromosomal assignment of the gene for h

Chromosomal assignment of the gene for human DNA-PKcs interacting protein (KIP) on chromosome 15q25.3–q26.1 by somatic hybrid analysis and fluorescencein situhybridization

✍ Naohiko Seki; Akiko Hayashi; Masumi Abe; Ryoko Araki; Akira Fujimori; Ryutaro Fu 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 130 KB