Search results for "human genetic"

Untersuchungen �ber die alkalischen Serumphosphatasegruppen

1967

The alkaline serum phosphatase groups are determined in a sample of 218 unrelated Greek males and females. Two different methods have been applied: that given by Arfors et al. (1963), and that given by Shreffler (1965). Both of them yielded nearly identical results. This seems to be important in respect to the comparison of results obtained by application of different methods. The relationships between the alkaline serum phosphatase groups and the AB0 blood groups could be confirmed. Against that no relationships to Hp-, Gc-, Gm-, Inv- and Lp-groups were to be observed. Comparing the frequencies of alkaline serum phosphatase groups in different white populations (Swedes, US-Americans, Engli…

Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS

2020

National audience; La PseudoHypoParathyroïdie de type 1A (PHP1A) et la PseudoPseudoHypoparathyroïdie (PPHP) sont deux maladies rares à transmission autosomique dominante provoquées par des mutations perte de fonction du gène GNAS soumis à empreinte, codant la protéine Gsα. La PHP1A est causée par des mutations sur l’allèle maternel et entraîne une Ostéodystrophie Héréditaire d’Albright (AHO) et une résistance à la PTH, tandis que la PPHP avec AHO et sans résistance hormonale est liée à des mutations de l’allèle paternel. Cette étude visait à étudier la transmission des mutations de GNAS. Nous avons mené une étude rétrospective sur un grand nombre de familles mutées GNAS. Pour éviter un biai…

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM conso…

2015

To identify genetic variants associated with refractive astigmatism in the general population, metaanalyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for e…

�ber den Nachweis des Erythropoetins in der Gewebekultur

1958

�ber den Wirkungsmechanismus von Reserpin

1959

Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?

2020

Background: Cognitive impairment is the most common neurological manifestation in NF1 and occurs in 30-70% of NF1 cases. The onset and severity of each specific cognitive deficit varies greatly from child to child, with no apparent external causes. The wide variability of phenotype is the most complex aspect in terms of management and care. Despite multiple research, the mechanism underlying the high heterogeneity in NF1 has not yet been elucidated. While many studies have focused on the effects of specific and precise genetic mutations on the NF1 phenotype, little has been done on the impact of NF1 transmission (sporadic vs. familial cases). We used a complete neuropsychological evaluation…

The role of the European Society of Human Genetics in delivering genomic education

2021

The European Society of Human Genetics (ESHG) was founded in 1967 as a professional organisation for members working in genetics in clinical practice, research and education. The Society seeks the integration of scientific research and its implementation into clinical practice and the education of specialists and the public in all areas of medical and human genetics. The Society works to do this through many approaches, including educational sessions at the annual conference; training courses in general and specialist areas of genetics; an online resource of educational materials (EuroGEMS); and a mentorship scheme. The ESHG Education Committee is implementing new approaches to expand the r…

Populationsgenetische Untersuchungen �ber die Pseudocholinesterase-Varianten bei Ungarn und Deutschen

1965

A systematic review of the literature on the human genetic variations in response to vaccination

2012

BACKGROUND: Vaccinomics is a term that refers to the investigation of heterogeneity of host genetic markers at the individual or population level that may result in variations of humoral, cell-mediated, and/or innate immune responses to vaccines. Studying genetic heterogeneity of human response to vaccines is supposed to both afford a better understanding of the way vaccine works, and help in developing future vaccines that are protective. With this premise in mind, we performed a systematic review of the literature on the studies concerning the association between human genetic variations in response to vaccination. METHODS: A detailed literature search on the case-control and cohort studi…

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

2017

PubMed ID: 29047407