| “GENETICS AND HEALTH CARE” |
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| The effects of dietary vitamin B12 deficiency on sperm maturation in developing and growing male rats |
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| Molecular pathology of human cerebral malformations |
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| Prenatal diagnosis and fetal therapy of congenital cystic adenomatoid malformation type I of the lung: a report of five cases |
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| Reproductive risk factors in unilateral and bilateral renal agenesis |
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| Drugs during Pregnancy and Lactation Handbook of Prescription Drugs and Comparative Risk Assessment |
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| NOTICE TO AUTHORS |
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| Effects of oyster extract on the reproductive function of zinc-deficient mice: Bioavailability of zinc contained in oyster extract |
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| FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis |
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| The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol |
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| Opposite effects of the maternal immune system activated by interleukin-lp vs. PSK and OK432 on 5-azacytidine-induced birth defects |
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| Effects of supplemental L-methionine on E-64 [trans-epoxysuccinyl-1-leucyl-amido (4-guanido) butane]-induced dysmorphology in rat embryos cultured in vitro |
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| Trend of congenital anomalies over 20 years ascertained by population-based monitoring in Ishikawa Prefecture, Japan |
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| 2004 JAPANESE TERATOLOGY SOCIETY MEMBERS |
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| Amelioration of sodium valproate-induced neural tube defects in mouse fetuses by maternal folic acid supplementation during gestation |
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| A quantitative study of the facial nerve in mice prenatally exposed to ethanol |
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| Activities and Announcement |
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| Curly vibrissae, a new mutation in the Wistar-derived rat |
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| NOTICE TO AUTHORS |
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| Subject index |
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| Author index |
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| The allelic loss of chromosome 3p25 with <i>c</i>‐<i>myc</i> gain is related to the development of clear‐cell renal cell carcinoma |
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✓ |
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Japanese |
| BRCA1 interacts directly with the Fanconi anemia protein FANCA
Folias A et al. (2002)
Hum Mol Genet 11: 2591–2597 |
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| DNA crosslink‐dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein
Pichierri P et al. (2002)
Hum Mol Genet 11: 2531–2546 |
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| Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects |
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| Segregation of the V804L mutation and S836S polymorphism of exon 14 of the <i>RET</i> gene in an extended kindred with familial medullary thyroid cancer |
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Hungarian |
| The contribution of USH1C mutations to syndromic and non‐syndromic deafness in the UK |
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Greek Cypriot origin |
| Failure of prenatal diagnosis of diploid–triploid mosaicism after amniocentesis |
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| Detection of five new mutations in the APC gene using denaturing high‐performance liquid chromatography |
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| Author, Subject and Volume Indices |
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| Defective regulation of extracellular ion homeostasis causes peripheral neuropathy associated with agenesis of the corpus callosum |
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| Nature's accounting: the gains, losses and human cost of duplicon‐mediated genomic imbalance |
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| Searching the vast array of genomic disorders |
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| CARD15/NOD2 mutational analysis in Japanese patients with Crohn's disease |
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| Limb girdle muscular dystrophy: use of dHPLC and direct sequencing to detect sarcoglycan gene mutations in a New Zealand cohort |
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| Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the <i>HFE</i> gene |
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| The I allele of the angiotensin‐converting enzyme gene is associated with an increased percentage of slow‐twitch type I fibers in human skeletal muscle |
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| Landmarks in genetics through philately: the tools used by dysmorphologists |
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| Mutation analysis of <i>Connexin 31</i> (<i>GJB3</i>) in sporadic non‐syndromic hearing impairment |
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| Genetic counseling for prostate cancer risk |
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African–American |
| Identification of a deletion in the mismatch repair gene, MSH2, using mouse–human cell hybrids monosomal for chromosome 2 |
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| Effects of a promoter variation in the hepatic glucokinase gene on promoter activity and glucose tolerance in Southern Chinese subjects |
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Southern Chinese subjects |
| Ehlers–Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a <i>COL3A1</i> mutation and a normal collagen III protein profile |
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| A submicroscopic deletion of 11p13 associated with the WAGR syndrome |
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| Genetic heterogeneity for a Nijmegen breakage‐like syndrome |
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| Tangier disease with unusual clinical manifestations |
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| A spectrum of neurological phenotypes caused by mutations in the X‐linked aristaless‐related homeobox gene, ARX |
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| The developing heart and congenital heart defects: a make or break situation |
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| Low prevalence of the deafness‐associated 35delG mutation in the connexin‐26 (GJB2) gene in a Sicilian population |
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Sicilian population |
| Errata |
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| Chromosome 22: a little chromosome that presents a larger understanding of genomic disorders |
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| Index |
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| Unmasking the hidden ID of congenital ID causation |
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| Rapid detection methods for five HGO gene mutations causing alkaptonuria |
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"most ethnic groups"; reference to Slovakia (country) |
| The natural history of sclerosteosis |
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| De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia |
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| Genetic counselling protocols for hereditary non‐polyposis colorectal cancer: a survey of UK regional genetics centres |
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| Analysis of Sanfilippo A gene mutations in a large pedigree |
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| Molecular characterization of a unique <i>de novo</i> 15q deletion associated with Prader–Willi syndrome and central visual impairment |
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| The complicity of segmental duplicity in human genetic disease |
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| Landmarks in genetics through philately: Down syndrome |
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| Erratum |
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| <i>USH1C</i>: a rare cause of USH1 in a non‐Acadian population and a founder effect of the Acadian allele |
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Acadian; non-Acadian populations; mentions Pakistan, Canada, Germany |
| Advocating a gene‐based template of care for congenital intellectual disability |
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| Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase |
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Italian population; English and Italian populations |
| Identification of a novel <i>BMPR1A</i> germline mutation in a Korean juvenile polyposis patient without <i>SMAD4</i> mutation |
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| Cystic fibrosis mutation frequencies in an Irish population |
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Irish population |
| A novel mutation in exon 7 in a family with mild tricho–rhino–phalangeal syndrome type I |
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| The R608del mutation in the acid sphingomyelinase gene (<i>SMPD1</i>) is the most prevalent among patients from Gran Canaria Island with Niemann‐Pick disease type B |
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| The PPAR‐gamma P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome: results from the Québec Family Study |
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| Biallelic inactivation of BRCA2 in Fanconi anemia
Howlet NG et al. (2002)
Science 297: 606–609 |
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| Two novel mutations in the α‐galactosidase A gene in Chinese patients with Fabry disease |
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Chinese; Chinese population; Chinese families |
| Cerebro–oculo–facial–lymphatic syndrome |
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| Glucocerebrosidase mutation T369M appears to be another polymorphism |
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| Erratum |
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| Genetic epidemiology of amyotrophic lateral sclerosis |
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| Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia |
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| Erratum |
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| Sporadic and familial blepharophimosis –ptosis–epicanthus inversus syndrome: <i>FOXL2</i> mutation screen and MRI study of the superior levator eyelid muscle |
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| Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification |
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| <i>KCNQ1</i> mutations in patients with a family history of lethal cardiac arrhythmias and sudden death |
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| Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies |
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| Violence begets violence; or does it? A brain enzyme protects victims of childhood abuse from becoming antisocial and criminal |
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| Aortic root diameter and nasal intermittent positive airway pressure treatment in Marfan's syndrome |
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| Presumed mutation in a microsatellite marker mimicking segmental uniparental disomy in a case of a small supernumerary marker chromosome detected at prenatal diagnosis |
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| Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features |
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| Refining the primary open‐angle glaucoma <i>GLC1C</i> region on chromosome 3 by haplotype analysis |
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Greek; American (Oregon) |
| The dichotomy of causation <i>vs</i> consequence in ID |
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| Screening for Down's syndrome in early and late first and second trimester using six maternal serum markers |
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| Paternal origin of <i>LMNA</i> mutations in Hutchinson–Gilford progeria |
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| Vitamin D receptor gene variants of <i>Bsm</i>I, <i>Apa</i>I, <i>Taq</i>I, and <i>Fok</i>I polymorphisms in spinal tuberculosis |
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| Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation |
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| An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family |
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| A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q‐type calcium‐channel α<sub>1A</sub>‐subunit in a family with progressive cerebellar ataxia and hemiplegic migraine |
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| Arg120stop nonsense mutation in the <i>RP2</i> gene: mutational hotspot and germ line mosaicism? |
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family of German origin |
| Predictive testing for Huntington's disease: relationship with partners after testing |
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| <i>SDHD</i> mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism |
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German; Dutch |
| Cytogenetic and molecular analysis of a family with three brothers afflicted with germ‐cell cancer |
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| Willingness to donate blood samples for genetic research: a survey from a community in Singapore |
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| Another gene to screen in polyposis disorders? |
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| Mutation spectrum and polymorphisms in <i>ATP7B</i> identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease |
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Han, Hui, ethnic Chinese, different ethnic backgrounds |
| Notch signaling in development and disease |
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| Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene |
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| Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC‐FISH |
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different races |
| Involvement of gene–diet/drug interaction in DNA methylation and its contribution to complex diseases: from cancer to schizophrenia |
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| A reversal of fate? Left‐right asymmetry, the inversin gene and childhood renal cystic disease |
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| Mutational analysis of forkhead transcriptional factor 2 (<i>FOXL2</i>) in Korean patients with blepharophimosis–ptosis–epicanthus inversus syndrome |
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| Autosomal dominant velopharyngeal insufficiency: father‐to‐son transmission confirmed |
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| Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non‐mosaic patients? |
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| Elevated frequencies of the 35delG allele of the <i>connexin 26</i> gene in Corsica, France |
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| Chromosome 2 deletion encompassing the <i>MAP2</i> gene in a patient with autism and Rett‐like features |
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| Broadening the spectrum of genetic disease mechanisms: making (anti)sense out of α‐thalassemia |
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| Frequency of three <i>BRCA1</i> gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland |
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| Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin–Lowry syndrome |
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| Genetic epidemiology of alpha‐1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America |
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| Association of <i>EDNRA</i>, but not <i>WNK4</i> or <i>FKBP1B</i>, polymorphisms with essential hypertension |
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Anglo‐Celtic white Australians |
| A−61C and C−101G Hp gene promoter polymorphisms are, respectively, associated with ahaptoglobinaemia and hypohaptoglobinaemia in Ghana |
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Ghanaians; Asian populations |
| Peroxisome proliferator‐activated receptor γ C161T polymorphisms and survival of Japanese patients with immunoglobulin A nephropathy |
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| Omphalocele in trisomy 3q: further delineation of phenotype |
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| Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype |
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| FH‐Pyrgos: a novel mutation in the promoter (−45delT) of the low‐density lipoprotein receptor gene associated with familial hypercholesterolemia |
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| Mechanism‐specific treatment of a polyglutamine disorder |
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| Co‐occurrence of three different mutations in the bilirubin UDP‐glucuronosyltransferase gene in a Chinese family with Crigler–Najjar syndrome type I and Gilbert's syndrome |
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| Postural anomaly of the head‐neck‐shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome) |
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| Genetic variation in the promoter and 5′ UTR of the copper transporter, <i>ATP7B</i>, in patients with Wilson disease |
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patients of European ancestry; Sardinian WND patients |
| Mutations in components of the dynein motor protein complex cause motor neuron disease |
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| Hemochromatosis gene mutations in the Croatian and Slovenian populations |
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| Do these genes make me look fat? Obesity and melanocortin‐4 receptor gene deficiencies |
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| Huntington's disease: do future physicians and lawyers think eugenically? |
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| Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality |
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| Use of cancer susceptibility testing among primary care physicians |
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| Niemann–Pick disease type C |
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| The effects of the Pro12Ala polymorphism of the <i>PPARγ‐2</i> gene on lipid metabolism interact with body size at birth |
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| Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy |
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| Molecular mechanisms in lymphangiogenesis: model systems and implications in human disease |
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| Split hand foot malformation is associated with a reduced level of Dactylin gene expression |
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| Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease |
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| Genetic landmarks through philately: Georges Marinesco (1863–1938) |
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| A link between the repair gene <i>EXOZ</i> and tumorigenesis |
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| Redefining xeroderma pigmentosum complementation group E |
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| A new locus for inheritance of malignant melanoma |
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| To tell or not to tell: barriers and facilitators in family communication about genetic risk |
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| Screening the <i>SLC26A4</i> gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey |
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| Ring chromosome 17: phenotype variation by deletion size |
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| Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis |
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| Genetic analysis of males from intracytoplasmic sperm injection couples |
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| Pure partial trisomy of 2q22‐q23 secondary to a paternally inherited direct insertion: a rare duplication |
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| Identification of three novel <i>SEDL</i> mutations, including mutation in the rare, non‐canonical splice site of exon 4 |
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Italian family; Slovak patient; Belgian patient |
| Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non‐polyposis colon cancer families offered genetic testing |
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| No justification of routine screening for 22q11 deletions in patients with overt cleft palate |
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| The first nonsense mutation in alsin results in a homogeneous phenotype of infantile‐onset ascending spastic paralysis with bulbar involvement in two siblings |
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| Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred |
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| <i>PMX2B</i>, a new candidate gene for Hirschsprung's disease |
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| Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1 |
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✓ |
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Italian patient |
| <i>ROR2</i> is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome |
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| Association of autism severity with a monoamine oxidase A functional polymorphism |
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| No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2‐p13 and 7q31‐qter in a series of non‐uniparental disomy Silver–Russell syndrome cases |
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| Cholesterol ester transfer protein, apolipoprotein E and lipoprotein lipase genotypes in patients with coronary artery disease in the Turkish population |
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| Low mutation rate of <i>hMSH2</i> and <i>hMLH1</i> in Taiwanese hereditary non‐polyposis colorectal cancer |
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✓ |
✓ |
Taiwanese; western countries |
| Mutations located in exon 24 of the <i>CFTR</i> gene are associated with a mild cystic fibrosis phenotype |
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| Analysis of <i>RPGR</i> in a South African family with X‐linked retinitis pigmentosa: research and diagnostic implications |
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✓ |
✓ |
mixed ancestry |
| Clinical, pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy |
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| UDP‐glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia |
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| X‐linked myotubular myopathy in a family with three adult survivors |
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| The road to IRAK: mutations in the toll‐like receptor signaling pathway cause susceptibility to pyogenic bacterial infections |
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| Something lost in the translation: ‘premutations’ in the <i>FMR1</i> gene cause Fragile X tremor/ataxia syndrome (FXTAS) |
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| Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families |
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✓ |
✓ |
Valencian, Spain, Castilla‐La Mancha, populations with different ethnic and geographic origins, ling |
| Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency |
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| Who gets the information about genetic testing for cancer risk? The role of race/ethnicity, immigration status, and primary care clinicians |
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✓ |
✓ |
race/ethnicity; immigrant and ethnic populations |
| Conspicuous GTG‐banding results of the centromere‐near region can be caused by alphoid DNA heteromorphism |
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| Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria |
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| A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient |
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| Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family |
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| Syndromes of disordered chromatin remodeling |
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| The genetics of pre‐eclampsia: a feto‐placental or maternal problem? |
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| Hepcidin's handiwork in hereditary hemochromatosis |
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| Evidence that the Cys282Tyr mutation of the <i>HFE</i> gene originated from a population in Southern Scandinavia and spread with the Vikings |
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✓ |
✓ |
✓ |
Northern European origin; Germanic Iron Age population; Celtic group of peoples; Vikings; populations in Northern/Central/Sout |
| A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified <i>DLL3</i> mutations segregating in a small village |
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| Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome |
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| A quantitative polymerase chain reaction method for determining copy number within the Prader–Willi/Angelman syndrome critical region |
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| A novel mutation in the<i>TWIST</i>gene, implicated in Saethre–Chotzen syndrome, is found in the original case of Robinow–Sorauf syndrome |
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| Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time |
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| Gaucher's disease: identification of novel mutant alleles and genotype–phenotype relationships |
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| Frequencies of gap‐ and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss |
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| Semen cryoconservation in men with AZFc microdeletion |
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| XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease |
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| Discoveries in sphingolipid metabolism, spinocerebellar ataxia and autoimmune disease |
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| A new mechanism for spinocerebellar ataxia involving mutations in protein kinase Cγ |
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| Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism |
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| A novel dominant missense mutation – D179N – in the <i>GJB2</i> gene (Connexin 26) associated with non‐syndromic hearing loss |
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| Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis |
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| Overestimation of genetic risks owing to small sample sizes in cardiovascular studies |
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| Germline mutations of the <i>MEN1</i> gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1‐related disorders |
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✓ |
✓ |
Korean |
| Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000 |
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| Ankyrin‐B mutations in familial cardiac arrhythmia |
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| Gene discovery in the allelic disorders Smith–McCort Dysplasia and Dyggve–Melchior–Clausen syndrome |
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| Can we throw the master‐switch in autoimmune disease? |
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| A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia |
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| Analysis of splice‐site mutations of the α‐galactosidase A gene in Fabry disease |
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| Genetic epidemiology of alpha‐1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain |
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✓ |
✓ |
racial subgroups; southern Europe; France, Italy, Portugal, Spain; Europe |
| Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia |
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✓ |
✓ |
Italian |
| Intact fetal cell isolation from maternal blood: improved isolation using a simple whole blood progenitor cell enrichment approach (RosetteSep<sup>™</sup>) |
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✓ |
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| Ion‐ing out the genetic basis of peripheral neuropathy associated with agenesis of the corpus callosum: mutations in a cation transporter cause ACCPN |
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| Development of the thyroid gland: lessons from congenitally hypothyroid mice and men |
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| The molecular genetics of Usher syndrome |
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| Familial predisposition to tufted angioma: identification of blood and lymphatic vascular components |
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| It's only teeth – are there limits to genetic testing? |
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| Interaction between SREBP‐1a and APOB polymorphisms influences total and low‐density lipoprotein cholesterol levels in patients with coronary artery disease |
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✓ |
|
|
Brazilian population of European descent |
| Pulmonary involvement in Type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease |
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| <i>APOA5</i>‐1131T>C polymorphism is associated with triglyceride levels in Chinese men |
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✓ |
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| Five new subjects with ring chromosome 22 |
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| Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X‐linked trait |
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| Triple A syndrome: genotype–phenotype assessment |
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| Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene |
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| Evaluation of a Tay‐Sachs Disease screening program |
|
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✓ |
✓ |
Ashkenazi Jewish population; Melbourne Jewish community (Australia) |
| Exclusion of <i>PTPN11</i> mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio–facio–cutaneous and Costello syndromes |
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| New mutations, new etiologies for Parkinson disease |
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| Vascular malformations: localized defects in vascular morphogenesis |
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| Ironing out hemochromatosis heterogeneity |
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| Mutations for a cytochrome c oxidase deficiency found by a novel strategy – up front computation makes the genomic haystack more manageable |
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| Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high‐risk individuals |
|
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|
✓ |
✓ |
Greek; our population; general population subjects |
| Analysis of marker or complex chromosomal rearrangements present in pre‐ and post‐natal karyotypes utilizing a combination of G‐banding, spectral karyotyping and fluorescence in situ hybridization |
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| Hotspots |
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| Hotspots |
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| "GENETICS AND HEALTH CARE". CALL FOR ABSTRACTS |
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