نتایج جستجو برای: chromosome 16p 133

تعداد نتایج: 133457  

Journal: :AIP Advances 2023

A sixteen-pole eighteen-slot (16p/18s) permanent magnet synchronous motor (PMSM) developed in Korea Electrotechnology Research Institute (KERI) for a vertical articulated robot is chosen as reference model, and other two pole/slot combinations (20p/18s, 20p/24s) are together compared terms of electrical mechanical performance. Radial force density varying time space decomposed through Fast Four...

Journal: :Journal of medical genetics 1993
A E Turco E M Padovani G P Chiaffoni B Peissel S Rossetti A Marcolongo L Gammaro G Maschio P F Pignatti

We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (...

2015
D Rowczenio D Iancu H Trojer J Gilbertson J Gillmore A Wechalekar M Tekman H Stanescu R Kleta T Lane P Hawkins H Lachmann

Introduction Familial Mediterranean fever (FMF) is the commonest hereditary autoinflammatory disease and it has mostly been reported in populations of Mediterranean ancestry, especially Armenians, Arabs, Turks, non-Ashkenazi and Sephardic Jews. FMF has a very low prevalence amongst Western Europeans. Its hallmarks are autosomal recessive inheritance and short bursts of illness lasting up to 3 d...

Journal: :Journal of medical genetics 2002
C Hernando A Plaja M A Rigola M M Pérez T Vendrell J Egocue C Fuster

Chromosome alterations, including numerical and structural chromosome rearrangements, are implicated in abnormal fetal development and congenital malformations. At least 50% of all first trimester spontaneous abortions are cytogenetically abnormal and about 6% of all postnatal congenital malformations are related to visible cytogenetic alterations detected by conventional G banding. 2 These per...

2001
Kowan J. Jee Young Tak Kim Kyu Rae Kim Yan Aalto Sakari Knuutila

DNA copy number changes were studied by comparative genomic hybridization on 10 tumor specimens of squamous cell carcinoma of cervix obtained from Korean patients. DNA was extracted from paraffin-embedded sections after removal of non-malignant cells by microdissection technique. Copy number changes were found in 8/10 tumors. The most frequent changes were chromosome 19 gains (n=6) and losses o...

Journal: :Cancer research 1995
X Y Guan C B Cargile S L Anzick F H Thompson P S Meltzer M L Bittner R Taetle J R McGill J M Trent

DNA sequence amplification contributes to the multistep process of carcinogenesis, and overexpression of amplified genes has been shown to contribute to the malignant phenotype. Cytogenetic analyses of human tumor cells, including ovarian malignancies, frequently show cytological evidence of DNA amplification in the form of double minutes and homogeneously staining regions. In this report, we h...

2001
PATRICIA LEGOIX OLIVIER BLUTEAU DOMINIQUE FRANCO GENEVIÈVE MONGES

Background & Aims: To evaluate how characterization of genetic alterations can help in the elucidation of liver carcinogenesis pathways, 137 tumors were analyzed. Methods: High-density allelotype, p53, Axin1, and b-catenin gene mutations were determined. Alterations were analyzed according to clinical parameters. Results: Tumors could be divided into 2 groups according to chromosome stability s...

2013
Lei Zhang Linda D. Cooley Sonal R. Chandratre Atif Ahmed Jill D. Jacobson

Disorders of sex development (DSD), formerly termed "intersex" conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD. Sex chromosome disorders, including sex chromosome mosaicism, are the second most common cause of DSD. We discuss a medically complex neonate with DSD presenting with ambiguous genitalia. Hormone levels suggested 21-hy...

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