JOURNAL OF MEDICAL GENETICS

Journal

Identifier:

E092698

ISSN:

0022-2593

Overview

Outputs (77)

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

Academic Article

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

Academic Article

15/15 translocation in Prader-Willi syndrome.

Academic Article

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.

Academic Article

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

Academic Article

A novel mutation and novel features in Nijmegen breakage syndrome.

Academic Article

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

Academic Article

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

Academic Article

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

Chromosome imbalance, ormal phenotype, and imprinting

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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.

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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.

Academic Article

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

Academic Article

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

Academic Article

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

Abstract

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Academic Article

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

Patient-derived cellular models of primary ciliopathies

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

Ring syndrome: still true?.

Academic Article

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

Academic Article

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.

Academic Article

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.

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

Translocation X;13 in a patient with retinoblastoma

Academic Article

Trisomy 10qter confirmed by in siyu hybridization

Academic Article

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

Academic Article

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

Academic Article

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

Academic Article

XX males SRY negative: a confirmed cause of infertility

Academic Article

‘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

Academic Article

No Results Found

JOURNAL OF MEDICAL GENETICS

Overview

Outputs (77)