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Pubblicazioni

HUMAN GENETICS

Rivista

Codice:

E078681

ISSN:

0340-6717

Dati Generali

Dati Generali

Pubblicazioni (99)

Ordina Pubblicazioni:

ascendente
decrescente

"Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis.

Articolo

A 5'-truncated c-myc gene variant not associated with a risk of cancer

Articolo

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

Articolo

A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20

Articolo

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM-1 gangliosidosis patient

Articolo

A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

Articolo

A novel mechnaism for the origin of supernumerary marker chromosomes

Articolo

Agenesis of corpus callosum, ocular and skeletal anomalies (x-linked dominant Aicardi's syndrome)

Articolo

An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia

Articolo

Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.

Articolo

Are the Nail-Patella syndrome and the autosomal Goltz like syndrome the phenotypic expression of the different alleles at the phenotypic expression of the different alleles at the COL5A1 locus?

Articolo

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.

Articolo

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

Articolo

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

Articolo

Breakpoint determination of 15 large deletions in Peuts-Jeghers subjects.

Articolo

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects

Articolo

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

Articolo

Cd bands and centromeric function in dicentric chromosomes

Articolo

Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ

Articolo

Chromosome abnormalities in Tuberous Sclerosis.

Articolo

Clonal structural chromosomal rearrangements in primary fibroblastic cultures and in lymphocytes of patients with Werner's syndroe.

Articolo

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Articolo

Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.

Articolo

Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)

Articolo

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

Articolo

D8S7 is consistently deleted in inverted duplication of the short arm of chromosome 8 ( inv dup 8p)

Articolo

De novo complex autosomal translocation involving chromosome 8, 13 and 15 in a girl with a sporadic retinoblastoma

Articolo

De novo unbalanced translocations have a complex history/aetiology

Articolo

Deficiency, transposition and duplication of one 15q rwegion may be alternatively associated with Prader-Willi (or similar) syndrome. Analysis of seven cases after varying ascertainment.

Articolo

Definitive assignment of the growth hormone-releasing factor gene to 20q11.2

Articolo

Deletion of specific sequence or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

Articolo

Diagnostic application of first trimester trophobalst sampling in 100 pregnancies

Articolo

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

Articolo

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

Articolo

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Articolo

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements?

Articolo

Distribution of intrachromosomal telomeric sequences (ITS) on Macaca fascicularis (Primates) chromosomes and their implication for chromosome evolution

Articolo

Duplication of the short arm of chromosome 9. Analysis of five cases.

Articolo

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Articolo

Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information

Articolo

Evidence for an ancestral alphoid domain on the long arm of human chromosome 2

Articolo

Excavating Y-chromosome haplotype strata in Anatolia

Articolo

Familial XX true hermaphroditism and the H-Y antigen.

Articolo

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

Articolo

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq.

Articolo

Gene dosage of the spermidine/spermine N(1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).

Articolo

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430 McKusick) is at Xq28, distal to the G6PD locus

Articolo

Gene symbol: BMPR2. Disease: Pulmonary hypertension, primary

Articolo

Gene symbol: KCNH2

Articolo

Gene symbol: KCNH2

Articolo

Gene symbol: KCNH2

Articolo

Gene symbol: KCNH2.

Articolo

Gene symbol: KCNH2.

Articolo

Gene symbol: KCNQ1

Articolo

Gene symbol: KCNQ1.

Articolo

Gene symbol: KCNQ1.

Articolo

Gene symbol: SCN5A

Articolo

Gene symbol: SCN5A

Articolo

Gene symbol: SCN5A.

Articolo

Gene symbol: SCN5A.

Articolo

Genetics of familial forms of thrombocytopenia

Articolo

High prevalence of Werner's syndrome in Sardinia. Description of six patients and estimate of the gene frequency.

Articolo

Indirect immunofluorescence of inactive centromere as indicator of centromeric function

Articolo

Indirect immunofluorescence of inactive centromeres as indicator of centromeric function

Articolo

Involvement of the region 13q14 in a patient with admantinoma of the long bones

Articolo

Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism.

Articolo

Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9.

Articolo

Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm.

Articolo

Loss of heterozygosity and K-ras gene mutations in gastric cancer

Articolo

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy

Articolo

Mapping the gene encoding the human erythroid transcriptonal factor NFE1-GF1 to Xp11-23

Articolo

Microsatellite instability and mutations of p53 and TGF-beta RII genes in gastric cancer

Articolo

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine a1(I) 901 substitution in a type-I collagen gene.

Articolo

Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.

Articolo

Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts

Articolo

Novel human pathological mutations. Gene symbol: SCN5A. Disease: Brugada Syndrome.

Articolo

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation.

Articolo

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Articolo

Pathogenetic significance of “pure” monosomy 7 in myeloproliferative disorders. Analyses of 14 cases

Articolo

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.

Articolo

Preferential maternal derivation in inv dup (15): analysis of eight new cases

Articolo

Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability

Articolo

Reciprocal translocations: a trap for cytogenetists?

Articolo

Reciprocal translocations: a trap for cytogenetists?

Articolo

Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1

Articolo

Regional assignment of the loci for adenylate kinase to 9q32 and for alfa1 acid glycoprotein to 9q31-q32

Articolo

Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friederich's ataxia locus.

Articolo

Shwachman syndrome and chromosome breakage. Letter to the Editor.

Articolo

The "cat eye syndrome": dicentric small marker chromosome probably derived from a n. 22 (tetrasomy 22pter-->q11) associated with a characteristic phenotype.

Articolo

The Cd technique identifies a specidic structure to centromeric function

Articolo

The isochromosome i(17q) in chronic myelocytic leukemia mechanism of origin, centromeric function,clonal evolution

Articolo

The unbalanced offspring of the male carriers of the 11q.22q translocation: non disjunction at meiosis II in a balanced spermatocyte.

Articolo

Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation

Articolo

Triplex gene dosage effect for beta-glucuronidase and possible assignment to band q22 in a partial duplication 7q

Articolo

Trisomy 16q21-->qter

Articolo

Turner syndrome patients are H-Y positive.

Articolo

Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.

Articolo

Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile.

Articolo

Y chromosome polymorphisms in Native American and Siberian populations: identification of Native American Y chromosome haplotypes

Articolo

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