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APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterized by hair follicle miniaturization. Using genetic linkage analysis, we mapped a new locus for the diseaseExpand
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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
Background: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth retardation. Loss of DNA methylation at theExpand
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Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and cancer predisposition. The gene mutated in AT, designatedExpand
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31Expand
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Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
Unbalanced submicroscopic subtelomeric chromosomal rearrangements represent a significant cause of unexplained moderate to severe mental retardation with and without phenotypic abnormalities. WeExpand
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Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation
Background and methods: Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. In some cases no deletion has been detected and theExpand
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Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
AIMS Short QT syndrome (SQTS) is a genetically determined ion-channel disorder, which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far, mutations in five different genesExpand
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Clinical and genetic heterogeneity in Meckel syndrome
Abstract Meckel syndrome (MKS) is a lethal malformation syndrome characterised by posterior meningoencephalocele, polycystic kidneys, fibrotic changes of the liver, and polydactyly. We haveExpand
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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
The maternal and paternal genomes possess distinct epigenetic marks that distinguish them at imprinted loci. In order to identify imprinted loci, we used a novel method, taking advantage of the factExpand
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Maternal uniparental disomy 7 – review and further delineation of the phenotype
Abstract Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 newExpand
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