Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children

(2017) Shahram Nemati et al.   European Journal of Medical Genetics

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

(2017) Monica Marabelli et al.   GENES CHROMOSOMES & CANCER

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

(2017) Virginie Grandin et al.   HUMAN MUTATION

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease

(2017) Zhiheng Huang et al.   INFLAMMATORY BOWEL DISEASES

Targeted Exome Sequencing IdentifiesPBX1as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

(2017) Laurence Heidet et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

Macrophage-Restricted Interleukin-10 Receptor Deficiency, but Not IL-10 Deficiency, Causes Severe Spontaneous Colitis

(2014) Ehud Zigmond et al.   IMMUNITY

Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease

(2014) Cheng Hiang Lee et al.   Journal of Crohns & Colitis

Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations

(2014) Jung Ok Shim et al.   JOURNAL OF HUMAN GENETICS

Structural basis of recognition of interferon-α receptor by tyrosine kinase 2

(2014) Heidi J A Wallweber et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

(2013) B. Neven et al.   BLOOD

Phenotypic Characterization of Very Early-onset IBD Due to Mutations in the IL10, IL10 Receptor Alpha or Beta Gene

(2013) Bénédicte Pigneur et al.   INFLAMMATORY BOWEL DISEASES

Two Rare Disease-Associated Tyk2 Variants Are Catalytically Impaired but Signaling Competent

(2013) Z. Li et al.   JOURNAL OF IMMUNOLOGY

IL-10 modulates DSS-induced colitis through a macrophage–ROS–NO axis

(2013) B Li et al.   Mucosal Immunology

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy

(2012) Daniel Kotlarz et al.   GASTROENTEROLOGY

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

(2012) H Mao et al.   GENES AND IMMUNITY

Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

(2012) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease

(2011) Bernadette Begue et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE