1,721,001 research outputs found
Cytogenetic and molecular genetic investigations
No full textMale infertility and hypogonadism may be caused by a genetic defect, which should be investigated by cytoge-netic or molecular genetic analysis. The main indications for genetic testing in andrology are azoospermia and severe oligozoospermia. In selected cases of hypogonadotropic hypogonadism and Kallmann syndrome, especially those with an evident familial component, mutation screening of the known genes may be indicated. Even if detection of a genetic alteration will not substantially change the treatment, genetic testing should be performed for two reasons: (1) to finalize a causal diagnosis, and (2) to assess the genetic risk for the offspring in case of successful treatment. © 2010 Springer-Verlag Berlin Heidelberg
Diseases of the hypothalamus and the pituitary gland
No full textAmong males Kallmann syndrome in its fully developed form has a prevalence of about 1 in 10,000. The prevalence in males is four times higher than in females (Seminara et al. 1998). Currently the genetic defect underlying Kallmann syndrome and IHH can be demonstrated in about half of the familial cases and in about 10% of the sporadic cases. The old denomination idio-pathic hypogonadotropic hypogonadism, which reflects ignorance of the causal defect, therefore appears obsolete. The acronym IHH should stand for isolated hypogonadotropic hypogonadism, referring to the inadequacy of gonadotropin secretion as the only defect. © 2010 Springer-Verlag Berlin Heidelberg
Pseudotrisomy 13: Clinical findings and genetic implications
No full textThe combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus syndrome, Smith-Lemli-Opitz syndrome, Meckel syndrome, and Pallister-Hall syndrome is discussed. Copyright (c) 2005 S. Karger AG, Basel
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene
No full textCampomelic dysplasia is a rare neonatal skeletal malformation syndrome mainly characterized by congenital boning and angulation of long bones in combination with other skeletal and estraskeletal defects. Two thirds of karyotypic males exhibit male-to-female ses reversal. Point mutations within SOX9 in 17q24-25 or rearrangements upstream to SOX9 as well as a deletion of a complete gene, causing haploinsufficiency of the gene product, have been detected in some patients. Recurrent mutations appear to be rare and most mutations detected in campomelic dysplasia are family specific. Here, we report on a Turkish patient with a 46,XY karyotype affected by campomelic dysplasia without sex reversal. Sequencing the SOX9 gene revealed a heterozygous Ala119Val mutation in exon 1, coding for the highly conserved HMG-box of the gene. This mutation is not present in the parents' lymphocyte DNAs. The same mutation was recently reported in a patient with 46,SX karyotype. Additionally, our patient is homozygous for the common polymorphism c507C-->T, while both parents are heterozygous. Clin Dysmorphol 10: 197-201 (C) 2001 Lippincott Williams & Wilkins
Dispelling the Myths Behind First-author Citation Counts
Full text linkWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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