Human genetics in full resolution

A report on the 12th International Congress of Human Genetics, joint with the 61st annual American Society of Human Genetics conference, Montreal, Quebec, 11-15 October 2011.     

The molecular genetics of early human life

Molecular Genetics of Early Human Development(Human Molecular Genetics series), edited by T. Strachan, S. Lindsay and D.I. Wilson, Bios Scientific Publishers, 1997. £65 (xiv+265 pages) ISBN 1 859960 31 6     

The effect of ultrasound on human chromosomes in vitro

Human Genetics - Human peripheral blood and cultured human lymphocytes undergoing the first mitosis were exposed to ultrasound in order to find out whether ultrasound can induce chromosome...     

The Editors' Recollections on the Occasion of the 60 Anniversary of The American Journal of Human Genetics

Volume 1, Number 1 of The American Journal of Human Genetics was published in September 1949. The first paper was an 18-page preface to the journal by H. J. Muller, president of The American Society of Human Genetics, entitled “Progress and Prospects in Human Genetics.” Charles W. Cotterman served as the first editor, and since that time a dozen other human geneticists have shared that distinction. In recognition of the 60^th anniversary of AJHG, recollections of five editors are recorded here.     

Localization of a novel,LPS-inducible member of the thymidylate kinase family to mouse Chromosome 12

Department of Molecular and Human Genetics, Houston, USA     

The future is genome-wide

A report of the annual meeting of the European Society of Human Genetics, Amsterdam, 6-9 May 2006.     

Human genetics branches out in Barcelona

A report of the European Human Genetics Conference, Barcelona, Spain, 31 May-3 June 2008.     

Human genetics moves from clinic to bench - and back

A report on the European Society of Human Genetics Conference 2005, Prague, Czech Republic, 7-10 May 2005.     

Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck

A report on the European Society of Human Genetics conference, held in Paris, France, June 8-11, 2013.     

Human Molecular Genetics: Research in Medical Genomics and Ethnogenomics

The review covers selected research topics in the fields of medical and ethnic genomics conducted at the Department of Molecular Bases of Human Genetics, the Institute of Molecular Genetics. Primary concern is given to genetic causes of monogenic neurological disorders, among them hepatolenticular degeneration (Wilson disease), torsion dystonia, and myotonic dystrophy. Results of polymorphic DNA marker surveys in Russia and neighboring countries are also presented.     

Essay: early American genetics journals

Before the Second World War, there were only two North-American journals exclusively devoted to genetics - the Journal of Heredity and Genetics. In the late 1940s, Genetics spawned two progeny - the American Journal of Human Genetics and Evolution. This article recounts the early days of these journals, their influential and often colourful founding editors, and their contents. It emphasizes the contrast between those years, when a reader had a realistic chance of keeping up with the whole field, and the current plethora of journals that makes it impossible to keep up with even the tables of contents.     

The spliceosomal catalytic core arose in the RNA world… or did it?

A report on the 63rd American Society of Human Genetics (ASHG) meeting held in Boston, USA, 22–26 October 2013.     

Human molecular genetics: study in the area of medical and ethnic genomics

The review covers selected research topics in fields of medical and ethnic genomics tackled at the Department of Molecular Basis of Human Genetics, the Institute of Molecular Genetics. Primary concern is given to genetic causes of monogenic neurological disorders, among them hepatolenticular degeneration (Wilson's disease), torsion dystonia, and myotonic dystrophy. Results of polymorphic DNA marker surveys in Russia and neighboring countries are also presented.     

Evaluation of a new round glass coverslip for cytological examination of cultured amniotic fluid cells

Human Genetics - Glass coverslip and plastic surfaces were quantitatively evaluated for growth-supporting capacity by determining the number and size of colonies formed in primary cultures of...     

Learning to swim in a sea of genomic data

A report on the 63rd American Society of Human Genetics (ASHG) meeting held in Boston, USA, 22–26 October 2013.     

Some hereditary blood factors of the Bengali Muslim of Bangladesh (red cell enzymes,haemoglobins, and serum proteins)

Human Genetics - In a sample of Bengali Muslems from Dacca, haptoglobin, group-specific component, haemoglobin, adenosine deaminase, adenylate kinase, 6-phosphogluconate dehydrogenase,...     

Distribution of HLA DRB1, DQA1 and DQB1 Allelic Main Groups in the Vojvodina Province of Serbia: Genetic Relatedness with Other Populations

Russian Journal of Genetics - The Human Leukocyte Antigen (HLA) system represents a distinctive marker in identifying population groups since they exhibit a very high level of polymorphism that...     

Signals of Positive Selection in Human Populations of Siberia and European Russia

Russian Journal of Genetics - Human adaptation to extreme climatic and geographic conditions mediated by natural selection may be one of the major factors for formation of genetic structure in...     

Unexpected inactivation of acceptor consensus splice sequence by a −3 C to T transition in intron 2 of the CFTR gene

Human Genetics - Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). Analysis of DNA from a pancreatic sufficient patient by means of...