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HUMAN MUTATION

Rivista

Codice:

E078695

ISSN:

1059-7794

Dati Generali

Dati Generali

Pubblicazioni (55)

Ordina Pubblicazioni:

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A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI.

Articolo

A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Articolo

A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy

Articolo

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

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African, Native American and European mitochondrials DNAs in Cubans from the Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba

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Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

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CC2D2A Mutations in Meckel and Joubert Syndromes Indicate a Genotype-Phenotype Correlation

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CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases

Articolo

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity

Articolo

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype–phenotype discordance

Articolo

Consortium of Osteogenesis Imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

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Denaturing HPLC analysis of DNA deletions and insertions

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Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152.

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Functional and clinical implications of genetic structure in 1686 Italian exomes

Articolo

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

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Human mtDNA site-specific variability values can act as haplogroup markers

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Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

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Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association

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MET mutations in cancers of unknown primary origin (CUPs)

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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

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MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay

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MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

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Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism

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Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Articolo

Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers

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Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

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Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

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Mutations and polymorphisms of the gene of the major human blood protein, serum albumin

Articolo

Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles

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Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes and diagnostic relevance.

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Mutationss in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

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NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations

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Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas

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Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

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Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

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PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum

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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

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Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.

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Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA’s indicates multiple independent occurrences of the common mutations

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Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

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Small supernumerary marker chromosomes: A legacy of trisomy rescue?

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Somatic mutations activating Wiskott–Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients

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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

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Spectrum of the mutations in Bernard-Soulier syndrome.

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Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome

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Ten novel FBN2 mutations in congenital contractual arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

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The introduction of arrays in prenatal diagnosis: a special challenge.

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Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.

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Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.

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Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

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Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat. 2007 May;28(5):459-68.

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Type I hyperprolinemia: genotype/phenotype correlations

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Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

Articolo

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