| Poster Abstracts |
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| Oral Abstracts |
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| Author Index |
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| Characterization of interactions between naturally mutated forms of the TIN2 protein and its known protein partners of the shelterin complex |
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| Aarskog‐Scott syndrome: first report of a duplication in the <i>FGD1</i> gene |
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| <i>DFNB86</i>, a novel autosomal recessive non‐syndromic deafness locus on chromosome 16p13.3 |
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| High frequency of p.Thr93Met in Smith‐Lemli‐Opitz syndrome patients in Turkey |
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| Variant late‐infantile neuronal ceroid lipofuscinosis due to a novel heterozygous <i>CLN8</i> mutation and <i>de novo</i> 8p23.3 deletion |
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| <i>PRRX1</i> is mutated in an otocephalic newborn infant conceived by consanguineous parents |
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| Association of genomic deletions in the <i>STXBP1</i> gene with Ohtahara syndrome |
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| Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver–Russell syndrome features |
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| Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline <i>KRAS</i> mutation: a causal relationship? |
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| Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population |
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| Two novel large <i>ANKH</i> deletion mutations in sporadic cases with craniometaphyseal dysplasia |
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| Mutational spectrum in eight Korean patients with 3‐methylcrotonyl‐CoA carboxylase deficiency |
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| Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain‐3 and dysferlin genes |
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| Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia |
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| A nasty hex on chromosome 9 causes FTD/ALS |
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| <i>FOXG1</i> mutations in Japanese patients with the congenital variant of Rett syndrome |
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✓ |
✓ |
Japanese |
| Mutations in the Mediator subunit MED23 link intellectual disability to immediate early gene regulation |
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| A novel mutation in <i>PRDM5</i> in brittle cornea syndrome |
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| Genetic testing and screening of individuals at risk of NF2 |
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| Towards an evidence‐based process for the clinical interpretation of copy number variation |
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| DFNB49 is an important cause of non‐syndromic deafness in Czech Roma patients but not in the general Czech population |
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✓ |
✓ |
✓ |
Central European population; Czech; Roma; non-Roma; general Czech population |
| Isolated cardiomyopathy caused by a <i>DMD</i> nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle |
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| Identification of genomic deletions spanning the <i>PCDH19</i> gene in two unrelated girls with intellectual disability and seizures |
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| The introduction of a choice to learn pre‐symptomatic DNA test results for <i>BRCA</i> or Lynch syndrome either face‐to‐face or by letter |
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| When ‘UPS’ fails to deliver: a novel gene associated with the ubiquitin–proteasome system causes familial ALS |
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| Expanding the phenotype associated with <i>FOXG1</i> mutations and in vivo FoxG1 chromatin‐binding dynamics |
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| E‐genetics: exploring the acceptability and feasibility of using technology in cancer genetics services |
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| Epigenetic modifications in cancer |
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| A c.3216_3217delGA mutation in <i>AGL</i> gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect |
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| Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex |
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| Doubling the referral rate of monogenic diabetes through a nationwide information campaign – update on glucokinase gene mutations in a Polish cohort |
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✓ |
✓ |
Polish cohort; Poland |
| Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency |
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| Origins of the elephant man: mosaic somatic mutations cause Proteus syndrome |
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| Valuing gene testing in children with possible neurofibromatosis 1 |
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| Impact of colonoscopic screening in male and female Lynch syndrome carriers with an <i>MSH2</i> mutation |
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| A GPHN point mutation leading to molybdenum cofactor deficiency |
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| Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot |
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| Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype |
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| Diagnostic accuracy of non-invasive prenatal sex determination: a large-scale study |
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| The impact of risk information exposure on women's beliefs about direct‐to‐consumer genetic testing for <i>BRCA</i> mutations |
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✓ |
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| Quantitative measurement of FMRP in blood platelets as a new screening test for fragile X syndrome |
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| DTC genetic testing: pendulum swings and policy paradoxes |
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| ‘Silent’ carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient |
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| What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration |
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| Novel p.M96T variant of NRL and shRNA‐based suppression and replacement of <i>NRL</i> mutants associated with autosomal dominant retinitis pigmentosa |
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| Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation |
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| Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? |
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| Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe |
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| Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients |
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✓ |
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Greek |
| Deficiency of <i>CRTAP</i> in non‐lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix |
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| Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis |
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| Reproductive behavior of individuals with increased risk of having a child with retinoblastoma |
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| Silver–Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13) |
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| CCMG statement on direct‐to‐consumer genetic testing<sup>*</sup> |
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| Parent of origin effects |
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| <i>BRCA1/2</i> testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families |
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| Novel <i>ZFPM2/FOG2</i> variants in patients with double outlet right ventricle |
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| Erratum |
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| Successful pre-implantation genetic diagnosis for Hirschsprung disease |
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| A novel deletion in <i>ZBTB24</i> in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 |
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| Audiological findings in 100 USH2 patients |
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| <i>BRCA1</i> and <i>BRCA2</i> mutations among familial breast cancer patients from Costa Rica |
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| Detection of chromosomal aneuploidies in fetal cells isolated from maternal blood using single‐chromosome dual‐probe FISH analysis |
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| Isolated and syndromic forms of congenital anosmia |
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| Of ORC and forks: the identification of mutations implicated in Meier-Gorlin syndrome |
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| Recent genomic advances in schizophrenia |
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| Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer |
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| Systematic screening of <i>FBN1</i> gene unclassified missense variants for splice abnormalities |
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| Polycystin-1: a key player in hereditary cystic kidney and liver disorders |
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| Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT‐II deficiency |
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| Looping the link between Gaucher and Parkinson's disease |
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| The accuracy of risks for cancer in Lynch syndrome |
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| Development and validation of an instrument to measure the impact of genetic testing on self-concept in Lynch syndrome |
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| Skipping along: an exon skipping therapy shows promise for Duchenne muscular dystrophy |
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| Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome |
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| Facial asymmetry and clinical manifestations in patients with novel insertion of the<i>TCOF1</i>gene |
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| Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22–23 |
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| How the brain folds: a new genetic mechanism involving a laminin gene |
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| Autism, mutations, and the environment: insights from exome sequencing |
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| Genetic basis for tooth malformations: from mice to men and back again |
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| Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form |
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| A novel homozygous mutation of DARS2 may cause a severe LBSL variant |
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| First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome |
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| Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria |
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| Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood |
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| Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i> |
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| Two novel germline <i>KRAS</i> mutations: expanding the molecular and clinical phenotype |
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| Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the <i>RNU4ATAC</i> gene |
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| DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy |
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| The essential role of NDE1 in extreme microcephaly |
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| A novel <i>PTF1A</i> mutation in a patient with severe pancreatic and cerebellar involvement |
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| Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency |
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| Changing the game with whole exome sequencing |
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| High frequency of <i>OPA1</i> mutations causing high ADOA prevalence in south‐eastern Sicily, Italy |
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✓ |
✓ |
south-eastern Sicily, Italy; Denmark |
| Impact of Huntington's across the entire disease spectrum: the phases and stages of disease from the patient perspective |
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| What can we learn from old microdeletion syndromes using array‐CGH screening? |
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| Management of inherited thrombophilia: guide for genetics professionals |
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| <i>JAG1</i> mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome |
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| Using Alzheimer's disease as a model for genetic risk disclosure: implications for personal genomics |
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| Genotype–phenotype correlation in colorectal polyposis |
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| High frequency of autosomal‐recessive DFNB59 hearing loss in an isolated Arab population in Israel |
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✓ |
✓ |
"Israeli Arab origin", "Arab population in Israel", "Arab" |
| Novel mutation in <i>ATP13A2</i> widens the spectrum of Kufor‐Rakeb syndrome (PARK9) |
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| A novel <i>NDUFV1</i> gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome |
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| Smith–Lemli–Opitz syndrome among Arabs |
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| <i>De novo</i> CDH1 mutation in a family presenting with early‐onset diffuse gastric cancer |
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| Midline axon guidance and human genetic disorders |
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| Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two <i>COL11A1</i> homozygous null mutations |
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| Erratum |
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| Identification of five novel SPRED1 germline mutations in Legius syndrome |
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| Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes |
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| 5‐Oxoprolinase deficiency: report of the first human <i>OPLAH</i> mutation |
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| Exome sequencing in Parkinson's disease |
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| Rab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities |
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| Is <i>PATCHED</i> an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report |
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| Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis |
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✓ |
✓ |
Italian |
| <i>ACVRL1</i> germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension |
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| CGG repeat in the FMR1 gene: size matters |
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| Population‐specific spectrum of the <i>F11</i> mutations in Koreans: evidence for a founder effect |
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✓ |
✓ |
Koreans |
| Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy |
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| Exome sequencing in a family segregating for celiac disease |
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| Exome sequencing and the genetics of intellectual disability |
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| Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 |
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| Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2 |
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✓ |
✓ |
Italian HSP patient population |
| Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD) |
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| Amplicon‐based high‐throughput pooled sequencing identifies mutations in <i>CYP7B1</i> and <i>SPG7</i> in sporadic spastic paraplegia patients |
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| Strategies for exome and genome sequence data analysis in disease‐gene discovery projects |
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| Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit |
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| Celiac disease: moving from genetic associations to causal variants |
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| A step forward on the path towards understanding osteoporosis |
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| The new Ghent criteria for Marfan syndrome: what do they change? |
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| 3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome |
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| <i>CHD7</i> mutations causing CHARGE syndrome are predominantly of paternal origin |
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| A novel homozygous missense mutation in <i>WNT10B</i> in familial split‐hand/foot malformation |
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| The reliability of death certification in patients dying with mucopolysaccharidosis type II (Hunter syndrome) |
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| DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment |
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| DNA methylation in neurodegenerative disorders: a missing link between genome and environment? |
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| Addendum to ‘Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders’ |
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| Phase analysis identifies compound heterozygous deletions of the <i>PARK2</i> gene in patients with early‐onset Parkinson disease |
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| ‘POP’! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing |
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| Molecular testing in congenital adrenal hyperplasia due to 21<i>α</i>‐hydroxylase deficiency in the era of newborn screening |
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| Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria |
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✓ |
✓ |
Italian and Spanish patients |
| Novel <i>TMPRSS3</i> variants in Pakistani families with autosomal recessive non‐syndromic hearing impairment |
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| Fabry disease: polymorphic haplotypes and a novel missense mutation in the <i>GLA</i> gene |
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| Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia |
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| Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene |
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| Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations |
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| Whole‐genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype |
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| Craniofacial and intraoral phenotype of Robinow syndrome forms |
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| Holoprosencephaly and <i>ZIC2</i> microdeletions: novel clinical and epidemiological specificities delineated |
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| Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis |
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| Maternal uniparental disomy of chromosome 4 in a patient with limb‐girdle muscular dystrophy 2E confirmed by SNP array technology |
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| Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans |
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| A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44 |
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| Sibling recurrence in intellectual disability of unknown cause |
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| Fragile X‐associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene |
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| Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists |
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| Sequencing: the next generation. Moving beyond population-based recessive disease carrier screening |
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| Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP |
|
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| It's a trap: bone abnormalities and autoimmune disorders resulting from TRAP deficiency |
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| Severe <i>α</i>‐1 antitrypsin deficiency caused by Q0<sub>Ourém</sub> allele: clinical features, haplotype characterization and history |
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| Identification of <i>de novo</i> mutations and rare variants in hypoplastic left heart syndrome |
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| Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey |
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| High frequency of the <i>TARDBP</i> p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis |
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|
✓ |
✓ |
Sardinian |
| Clinical variability of genetic isolates of Cohen syndrome |
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| Spanish <i>MYH7</i> founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients |
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✓ |
✓ |
Italian ancestry; Italian-American family; Spanish |
| Fragile X syndrome therapy: to respond or not to respond may be a matter of methylation |
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| Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency |
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| Mad for SMAD: unraveling the genetics of a new aneurysm syndrome |
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| Novel mutation in <i>GLRB</i> in a large family with hereditary hyperekplexia |
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| PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability |
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| Response to Nucaro et al. |
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| Erratum |
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| Response to Palmirotta et al.: The frequency of the PRKCSH GAG trinucleotide repeat in PCLD patients |
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| SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome |
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| Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy? |
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| Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort† |
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| BAG3‐related myofibrillar myopathy in a Chinese family |
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|
✓ |
✓ |
Chinese (phrases: 'a Chinese patient', 'this is the first Chinese case') |
| Three novel truncating <i>TINF2</i> mutations causing severe dyskeratosis congenita in early childhood |
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| Step to CEP152: uncovering a new mutation implicated in Seckel syndrome |
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| A truncating mutation in <i>GPSM2</i> is associated with recessive non‐syndromic hearing loss |
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| Novel glucokinase mutations in patients with monogenic diabetes – clinical outline of <i>GCK</i>‐MD and potential for founder effect in Slavic population |
|
✓ |
|
✓ |
|
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|
|
Slavic population |
| High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands |
|
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✓ |
✓ |
Dutch; Netherlands |
| First <i>HPSE2</i> missense mutation in urofacial syndrome |
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| Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome |
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| Functional characterization of the <i>TSC2</i> c.3598C>T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds |
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| X‐linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in <i>COL4A5</i> |
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✓ |
✓ |
Hellenic |
| Down syndrome patients are less likely to develop some (but not all) malignant solid tumours |
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| Response to Satgé and Vekemans |
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| PRRX1 is mutated in a fetus with agnathia-otocephaly |
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| Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly |
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| PTEN in colorectal cancer: a report on two Cowden syndrome patients |
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| Exome sequencing expedites disease gene discovery |
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| High frequency of SH3TC2 mutations in Czech HMSN I patients |
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| Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II |
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| X‐linked dominant Charcot‐Marie‐Tooth disease with connexin 32 (<i>Cx32</i>) mutations in Koreans |
|
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|
✓ |
✓ |
✓ |
Europeans; European; Koreans; Asians; ethnic groups; ethnic background |
| Exploring the genetic origins of Treacher Collins syndrome |
|
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| Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations |
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| Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa |
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| A specific subtype of Infantile Parkinsonism-dystonia identified |
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| Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients |
|
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|
✓ |
✓ |
Portuguese patients |
| A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism |
|
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| The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services |
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| Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China |
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| Identification of an <i>AluY</i>‐mediated deletion of exon 5 in the <i>CPOX</i> gene by MLPA analysis in patients with hereditary coproporphyria |
|
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|
|
|
✓ |
✓ |
Swedish |
| Dissecting the genes of familial aortic dissections |
|
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| De novo paradigm: the ultimate answer to the paradox in mental retardation? |
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| Lysosomal multienzymatic complex‐related diseases: a genetic study among Portuguese patients |
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| Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy |
|
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| Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with <i>CYP7B1</i> mutations |
|
|
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|
|
|
✓ |
✓ |
Italian |
| Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family |
|
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| A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33 |
|
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| Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan |
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| Breast cancer after bilateral risk-reducing mastectomy |
|
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| Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? |
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| Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell– Silver syndrome |
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| Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation |
|
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| Bone resorption in syndromes of the Ras/MAPK pathway |
|
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| A founder <i>BRCA2</i> mutation in non‐Afrikaner breast cancer patients of the Western Cape of South Africa |
|
|
|
|
|
|
✓ |
✓ |
Coloured; Black Xhosa; Afrikaner; Ashkenazi Jewish; Dutch; Xhosa; indigenous tribes |
| 19p13.2 microduplication causes a Sotos syndrome‐like phenotype and alters gene expression |
|
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| Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene |
|
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| Personalized medicine - the promised land: are we there yet? |
|
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| Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegeneration |
|
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|
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| Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability |
|
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| Adoption and the communication of genetic risk: experiences in Huntington disease |
|
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| Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration |
|
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| Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions |
|
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| Telomere length measurement can distinguish pathogenic from non‐pathogenic variants in the shelterin component, TIN2 |
|
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|
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| Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations |
|
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| Clinical findings in patients with <i>GLI2</i> mutations – phenotypic variability |
|
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| New mutations in<i>ZFPM2/FOG2</i>gene in tetralogy of Fallot and double outlet right ventricle |
|
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|
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| Disruption of the <i>SCN2A</i> and <i>SCN3A</i> genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures |
|
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|
| Osteosclerotic bone dysplasia in siblings with a Fam20C mutation |
|
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|
|
| Understanding the population structure of North American patients with cystic fibrosis |
|
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| Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families |
|
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| Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome |
|
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|
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| Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean? |
|
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| A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22 |
|
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| Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations |
|
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|
|
| Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II |
|
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| Dominantly acting
<i>ABCC8</i>
mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia |
|
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|
|
| Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation |
|
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|
|
| Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome |
|
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|
| Haplotype sharing test maps genes for familial cardiomyopathies† |
|
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|
|
| Autism severity is associated with child and maternal MAOA genotypes |
|
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|
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|
|
| Clinical and functional properties of novel
<i>VHL</i>
mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma |
|
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|
|
|
|
| Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly |
|
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|
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|
|
| Clinical features and X-inactivation in females heterozygous for creatine transporter defect |
|
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|
|
| Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance |
|
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|
|
| Twenty-five novel mutations including duplications in the ATP7A gene |
|
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|
|
| RUNX2 analysis of Danish cleidocranial dysplasia families |
|
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| Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches |
|
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| Functional analysis of splicing mutations in MYO7A and USH2A genes |
|
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|
|
| Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees |
|
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|
|
| Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease |
|
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|
|
| A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome) |
|
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|
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| OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype |
|
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|
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| The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders |
|
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| High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting |
|
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