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JOURNAL OF MEDICAL GENETICS

Rivista

Codice:

E092698

ISSN:

0022-2593

Dati Generali

Dati Generali

Pubblicazioni (77)

Ordina Pubblicazioni:

ascendente
decrescente

'Kinesinopathies': Emerging role of the kinesin family member genes in birth defects

Articolo

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Articolo

15/15 translocation in Prader-Willi syndrome.

Articolo

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.

Articolo

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR

Articolo

A novel mutation and novel features in Nijmegen breakage syndrome.

Articolo

A novel mutation in the sulphate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Articolo

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity

Articolo

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

Articolo

Agenesis of corpus callosum with Probst bundles due to haploinsufficiency for a gene in a 8 cM region at 6q25

Articolo

Agenesis of corpus callosumwith mosaicism 46,XY/47,XY extra ring chromosome

Articolo

Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25

Articolo

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

Articolo

Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder

Articolo

An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis

Articolo

Chromosome imbalance, ormal phenotype, and imprinting

Articolo

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

Articolo

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

Articolo

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

Articolo

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Articolo

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Articolo

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Articolo

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphisms (ICF syndrome).

Articolo

Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome.

Articolo

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Articolo

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases.

Articolo

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

Articolo

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Articolo

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Articolo

Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?

Articolo

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation.

Articolo

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Articolo

Epigenetic analysis of the Critical Region I for Premature Ovarian Failure (POF): demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome.

Articolo

Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions.

Articolo

First trimester fetal diagnosis of gentic disorders: clinical evaluation of 250 cases

Articolo

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

Articolo

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Articolo

Hereditary haemorragic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2

Articolo

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

Articolo

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Articolo

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

Articolo

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Articolo

Identification of a recurrent brerakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.

Articolo

Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome.

Articolo

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

Articolo

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

Articolo

Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.

Articolo

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.

Articolo

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Articolo

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Abstract

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Articolo

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Articolo

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders

Articolo

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy

Articolo

Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates

Articolo

Novel MUNC 13-4 mutations in children and young adult patients with hemophagocytic lymphohistiocytosis

Articolo

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

Articolo

Patient-derived cellular models of primary ciliopathies

Articolo

Presumptive mosaic origin of an XX/XY female with ambiguous genitalia

Articolo

Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency

Articolo

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Articolo

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study

Articolo

Ring syndrome: still true?.

Articolo

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

Articolo

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.

Articolo

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

Articolo

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.

Articolo

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

Articolo

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Articolo

The origin of a morphologically unidentifiable human supernumerary minichromosome traced through sorting, molecular cloning, and in situ hybridisation.

Articolo

Translocation X;13 in a patient with retinoblastoma

Articolo

Trisomy 10qter confirmed by in siyu hybridization

Articolo

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum developement

Articolo

Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

Articolo

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion

Articolo

XX males SRY negative: a confirmed cause of infertility

Articolo

‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow- up, natural history and a real- life observational study about safety and efficacy profile of tyrosine kinase inhibitors

Articolo

No Results Found

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