AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
Homozygosity mapping is a powerful method for identifying mutations in patients with
recessive conditions, especially in consanguineous families or isolated populations …
recessive conditions, especially in consanguineous families or isolated populations …
[HTML][HTML] Research techniques made simple: genome-wide homozygosity/autozygosity mapping is a powerful tool for identifying candidate genes in autosomal …
Homozygosity mapping (HM), also known as autozygosity mapping, was originally used to
map genes underlying homozygous autosomal recessive Mendelian diseases in patients …
map genes underlying homozygous autosomal recessive Mendelian diseases in patients …
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: first results from Turkey
Background and objective Primary ciliary dyskinesia (PCD) is a rare and genetically
heterogeneous disease and the severity of the disease related with genetic analysis has …
heterogeneous disease and the severity of the disease related with genetic analysis has …
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis
A Koparir, OF Karatas, B Yuceturk… - Human Molecular …, 2015 - academic.oup.com
Abstract POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and
is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis …
is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis …
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms
H Kondo, N Maksimova, T Otomo, H Kato… - Human molecular …, 2017 - academic.oup.com
Mucopolysaccharidoses (MPS) are a group of genetic deficiencies of lysosomal enzymes
that catabolize glycosaminoglycans (GAG). Here we describe a novel MPS-like disease …
that catabolize glycosaminoglycans (GAG). Here we describe a novel MPS-like disease …
HERC1 mutations in idiopathic intellectual disability
GE Utine, EZ Taşkıran, C Koşukcu… - European Journal of …, 2017 - Elsevier
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator
of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab …
of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab …
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
AH Kim, I Sakin, S Viviano, G Tuncel… - Life science …, 2024 - life-science-alliance.org
Intellectual and developmental disabilities result from abnormal nervous system
development. Over a 1,000 genes have been associated with intellectual and …
development. Over a 1,000 genes have been associated with intellectual and …
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping …
Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in
consanguineous families by delineating stretches of genomic DNA that are identical by …
consanguineous families by delineating stretches of genomic DNA that are identical by …
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency
N Bratanič, J Kovač, K Pohar… - Orphanet journal of rare …, 2017 - Springer
Background Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is
characterized by primary immunodeficiency and autoimmunity. Cancer may present another …
characterized by primary immunodeficiency and autoimmunity. Cancer may present another …
Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?
Abstract Objective Autoinflammatory diseases (AIDs) are characterized by recurrent sterile
systemic inflammation attacks. More than half of the patients remain genetically …
systemic inflammation attacks. More than half of the patients remain genetically …