Featured
-
-
Clinical Utility Gene Card |
The EuroGentest Clinical Utility Gene Cards
- Jörg Schmidtke
- & Jean-Jacques Cassiman
-
Short Report |
Type II familial synpolydactyly: report on two families with an emphasis on variations of expression
- Mohammad M Al-Qattan
-
Article |
FGF21 signalling pathway and metabolic traits – genetic association analysis
- Bernhard M Kaess
- , Timothy A Barnes
- & Maciej Tomaszewski
-
Article |
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
- Siddharth Banka
- , Elena Chervinsky
- & Stavit Shalev
-
Article |
Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)
- Hanna Västinsalo
- , Reetta Jalkanen
- & Eeva-Marja Sankila
-
Article |
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH
- Anne Chun-Hui Tsai
- , Cherilyn J Dossett
- & Sau Wai Cheung
-
Article |
FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males
- Robert A Scott
- , Mark E S Bailey
- & Yannis P Pitsiladis
-
Article |
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study
- Céline René
- , Damien Paulet
- & Marie des Georges
-
Article |
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database
- Ofir T Betsalel
- , Efraim H Rosenberg
- & Gajja S Salomons
-
Short Report |
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
- Kimia Kahrizi
- , Cougar Hao Hu
- & Andreas Tzschach
-
Short Report |
Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant
- Maurice P Zeegers
- , Humera S Khan
- & Harry Ostrer
-
Article |
Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms
- Ryan M Smith
- , Houda Alachkar
- & Wolfgang Sadee
-
Article |
Genetic diversity on the Comoros Islands shows early seafaring as major determinant of human biocultural evolution in the Western Indian Ocean
- Said Msaidie
- , Axel Ducourneau
- & Michael J Mitchell
-
Short Report |
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype
- Pierre Cacciagli
- , Marie-Reine Haddad
- & Laurent Villard
-
Short Report |
Genetic variability at the PARK16 locus
- Arianna Tucci
- , Mike A Nalls
- & Coro Paisán-Ruiz
-
Letter |
Lack of association between a new tag SNP in the FTO gene and BMI in Czech–Slavonic population
- Dana Dlouha
- , Vera Adamkova
- & Jaroslav A Hubacek
-
Short Report |
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency
- Judit García-Villoria
- , Laura Gort
- & Antonia Ribes
-
-
Clinical Utility Gene Card |
Rubinstein–Taybi syndrome (CREBBP, EP300)
- Martine van Belzen
- , Oliver Bartsch
- & Raoul C M Hennekam
-
Article |
NordicDB: a Nordic pool and portal for genome-wide control data
- Monica Leu
- , Keith Humphreys
- & Samuli Ripatti
-
Article |
The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study
- Sato Ashida
- , Laura M Koehly
- & Robert C Green
-
Article |
Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity
- Virginia Boccardi
- , Immacolata Ambrosino
- & Michelangela Barbieri
-
Clinical Utility Gene Card |
Clinical utility gene card for: Lesch–Nyhan syndrome
- Rosa J Torres
- , Juan G Puig
- & Irène Ceballos-Picot
-
Article |
Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions
- Maria C Bonaglia
- , Susan Marelli
- & Orsetta Zuffardi
-
Review |
Genetic male infertility and mutation of CATSPER ion channels
- Michael S Hildebrand
- , Matthew R Avenarius
- & Richard J H Smith
-
Article |
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
- Piranit N Kantaputra
- , Eva Klopocki
- & Stefan Mundlos
-
Article |
Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti
- Ellen Reisinger
- , David Meintrup
- & Bernd Fakler
-
Short Report |
Confirmation of association between multiple sclerosis and CYP27B1
- Emilie Sundqvist
- , Maria Bäärnhielm
- & Ingrid Kockum
-
Article |
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
- Janine Meienberg
- , Marianne Rohrbach
- & Gábor Mátyás
-
Article |
Comparing family members’ motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis
- Caroline Dancyger
- , Jonathan A Smith
- & Susan Michie
-
Article |
The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions
- Lina Keller
- , Hedvig Welander
- & Caroline Graff
-
Viewpoint |
The medical geneticist as expert in the transgenerational and developmental aspects of diseases
- György Kosztolányi
- & Jean-Jacques Cassiman
-
Article |
Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate
- Nik Cummings
- , Thomas D Dyer
- & Jeremy B M Jowett
-
Article |
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
- Angela L Duker
- , Blake C Ballif
- & Trilochan Sahoo
-
Article |
Dengue hemorrhagic fever is associated with polymorphisms in JAK1
- Luciano K Silva
- , Ronald E Blanton
- & M Glória Teixeira
-
-
Short Report |
Genes predict village of origin in rural Europe
- Colm O'Dushlaine
- , Ruth McQuillan
- & James F Wilson
-
-
Article |
A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese
- Chao Qiang Jiang
- , Bin Liu
- & G Neil Thomas
-
Article |
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
- Christopher W Carr
- , Daniel Moreno-De-Luca
- & Omar A Abdul-Rahman
-
Article |
Population structure and genome-wide patterns of variation in Ireland and Britain
- Colm T O'Dushlaine
- , Derek Morris
- & Gianpiero L Cavalleri
-
Article |
Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation
- Daren Low
- & Ken-Shiung Chen
-
Review |
Carrier screening for Beta-thalassaemia: a review of international practice
- Nicole E Cousens
- , Clara L Gaff
- & Martin B Delatycki
-
Article |
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1
- Alice Marques-Pinheiro
- , Marie Marduel
- & Mathilde Varret
-
Article |
Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome
- Kim M Summers
- , Sobia Raza
- & David A Hume
-
Short Report |
5q11.2 deletion in a patient with tracheal agenesis
- Elisabeth M de Jong
- , Hannie Douben
- & Annelies de Klein
-
Article |
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase
- Aviva Levitas
- , Emad Muhammad
- & Ruti Parvari
-
Article |
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592
- Elsa Nicolas
- , Yannick Poitelon
- & Valérie Delague
-
Article |
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
- Aimée DC Paulussen
- , Constance T Schrander-Stumpel
- & Jos Herbergs
Browse broader subjects
Browse narrower subjects
- Agricultural genetics
- Animal breeding
- Behavioural genetics
- Cancer genetics
- Cancer genomics
- Clinical genetics
- Consanguinity
- CRISPR-Cas systems
- Cytogenetics
- Development
- Epigenetics
- Epigenomics
- Eukaryote
- Evolutionary biology
- Functional genomics
- Gene expression
- Gene regulation
- Genetic association study
- Genetic hybridization
- Genetic interaction
- Genetic linkage study
- Genetic markers
- Genome
- Genomic instability
- Genomics
- Genotype
- Haplotypes
- Heritable quantitative trait
- Immunogenetics
- Inbreeding
- Medical genetics
- Microbial genetics
- Mutation
- Neurodevelopmental disorders
- Plant breeding
- Plant genetics
- Polyploidy
- Population genetics
- Prokaryote
- Quantitative trait
- RNA splicing
- RNAi
- Sequencing