Hemoglobin (Hb) Q-Thailand, also known as G-Taichung, Mahidol, Kurashiki-I and Asabara, is an α-globin chain variant that results from a point mutation (GAC→CAC; Asp→His) at codon 74 of the α1-globin gene on chromosome 16p with a leftward single α-globin gene deletion (-α(4.2)). Co-inheritance of Hb Q-Thailand with α-thalassemia (mainly --(SEA)) results in thalassemia intermedia, termed Hb Q-H ...

Classical comparative genomic hybridization (CGH) has been used to identify recurrent genomic alterations in human HCC. As hepatocarcinogenesis is considered as a stepwise process, we applied oncogenetic tree modeling on all available classical CGH data to determine occurrence of genetic alterations over time. Nine losses (1p, 4q, 6q, 8p, 9p, 13q, 16p, 16q and 17p) and ten gains (1q, 5p, 6p, 7p...

We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and one GC-rich, Alu-poor domain. The entire region is ex...

Although peer review has been used to maintain the quality of published research, it can be a ‘‘seriously flawed’’ process and might result in the publication of papers with errors. I refer here to the report of a de novo (2;16)(q36.3;p13.3) translocation that is associated with Rubinstein-Taybi syndrome (RTS). This report was published in Clinics and contains a cytogenetic mistake in the depic...

Int J Leg Med 1993;106:53–4. 14. Mastana SS, Fisher P. Haptoglobin subtypes in the East Midlands (United Kingdom). Int J Leg Med 1994;107:52–4. 15. Loftus BJ, Kim U-J, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, et al. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics 1999;60:295–308. 16. Erickson LM, Kim HS, Maeda N. Junctions between ...

BACKGROUND Esophageal carcinoma is a major cause of cancer-related deaths among males in Taiwan. However, to date, the genetic alterations that accompany this lethal disease are not understood. METHODS Chromosomal aberrations of 46 samples of esophageal squamous cell carcinoma (EC-SCC) were analyzed by comparative genomic hybridization (CGH), and their correlations with pathologic staging and...

Beküldte Németh Gábor 2. k, 2014-07-22 14:55 Tasi T [1], Nyúl LG [2], Balázs P [3]. Directional Convexity Measure for Binary Tomography [4]. In: Sanniti di Baja G [5], Ruiz-Shulcloper J [6], editors. Progress in Pattern Recognition, Image Analysis, Computer Vision, and Applications. Berlin; Heidelberg: Springer Verlag; 2013. 9. p. 9-16p. Doktori iskola elfogadás: igen Válogatott publikáció: ige...

We first want to congratulate the authors and the AJNR for the interesting case in “The Association between Tuberous Sclerosis and Insulinoma” (1). In this age of molecular genetics, these unusual cases have been shown to lead to major discoveries, as exemplified by the cloning of the neurofibromatosis type 1 gene. In the “Discussion,” the authors state, “Although multiple endocrine neoplasia [...

Lobular carcinoma in situ (LCIS) and atypical lobular hyperplasia (ALH) of the breast are cytologically similar breast lesions that reportedly carry different relative risks of subsequent development of invasive carcinoma. They are frequently multifocal and bilateral. We have identified the chromosomal copy number changes in 31 LCIS and 14 ALH lesions from 28 cases and also the 7 invasive carci...