| Treatment of severe hypercholesterolemia in apolipoprotein E‐deficient mice by intramuscular injection of plasmid DNA |
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| Hammerhead ribozyme as a therapeutic agent for hyperlipidemia: Production of truncated apolipoprotein B and hypolipidemic effects in a dyslipidemia murine model |
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| Prolonged correction of hyperlipidemia in mice with familial hypercholesterolemia using an adeno‐associated viral vector expressing very‐low‐density lipoprotein receptor |
|
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| Long‐term reversal of hypercholesterolemia in low‐density lipoprotein receptor (LDLR)‐deficient mice by adenovirus‐mediated LDLR gene transfer combined with CD154 blockade |
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| Silencing the quiet |
|
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| A phosphatase mutation implicated in multiple sclerosis |
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| HotSpots |
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| HotSpots |
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| HotSpots |
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| Real facts from artificial chromosomes |
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| Fetal cells in maternal blood |
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| Prevalence of founder <i>BRCA1</i> and <i>BRCA2</i> mutations in unselected French Canadian women with breast cancer |
|
|
|
|
|
|
✓ |
✓ |
French Canadian; ethnicity/country of origin; French Canadian population |
| Two unbalanced translocations involving a common 6p25 region in two XY female patients |
|
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|
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| Identification of two <i>de novo</i> partial trisomies by comparative genomic hybridization |
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| Homozygosity for a 4‐bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation |
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| Multicultural education and genetic counseling |
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| A few more pieces of the DM puzzle |
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| Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity |
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|
✓ |
✓ |
Mexican patients |
| Co‐occurrence and contribution of Fabry disease and Klippel–Trénaunay–Weber syndrome to a patient with atypical skin lesions |
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| Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype |
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|
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| ‘The VACTERL association: lessons from the Sonic hedgehog pathway’ |
|
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| Mutations of the <i>NOG</i> gene in individuals with proximal symphalangism and multiple synostosis syndrome |
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|
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| A logistic regression model for measuring gene–longevity associations |
|
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✓ |
✓ |
Italian |
| Late‐onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon |
|
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|
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| Human genetic research, DNA banking and consent: a question of ‘form’? |
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| Phenotype variability of two FAP families with an identical <i>APC</i> germline mutation at codon 1465: a potential modifier effect? |
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|
|
| Molecular genetic analysis of the cystathionine β<b>‐</b>synthase gene in Portuguese homocystinuria patients: three novel mutations |
|
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|
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|
|
✓ |
|
Portuguese |
| Lipoprotein(a) as a risk factor for maternal cardiovascular disease mortality in kindreds with familial combined hyperlipidemia or familial hypertriglyceridemia |
|
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|
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| Neurodegeneration: iron weighs in |
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| Evaluation for sleep apnea in patients with Ehlers–Danlos syndrome and Marfan: a questionnaire study |
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|
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| Segmental uniparental disomy of 7q31‐qter is rare in Silver–Russell syndrome |
|
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|
|
| Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing‐impaired patients |
|
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|
|
| Vietnamese sisters with Grebe syndrome on a TV program in Japan |
|
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|
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| The expanding world of spinocerebellar ataxia: pentanucleotide repeats expand in SCA10 |
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|
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| Four half‐siblings with infantile myrofibromatosis: a case for autosomal‐recessive inheritance |
|
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|
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| The use of intragenic polymorphisms in determination of the genomic relevance of whole‐exon deletions in <i>MLH1</i> and <i>MSH2</i> |
|
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|
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| Towards a vaccine for Alzheimer disease |
|
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|
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| Transgenic monkey raises hope for primate models of human diseases |
|
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| A nonsense mutation in <i>TRPS1</i> in a Japanese family with tricho‐rhino‐phalangeal syndrome type I |
|
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|
|
| Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome |
|
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| When p63 goes awry: SAM domain mutations |
|
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|
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| Risk of obstetric cholestasis in sisters of index patients |
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|
|
| Discoveries in Charcot–Marie–Tooth disease, Crohn's disease and Bardet–Biedl syndrome 4 |
|
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|
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| Digesting genetic information in gastric cancers |
|
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|
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| Pulling roots of the thorny chorea‐acanthocytosis |
|
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| Genetic landmarks through philately – Charles Robert Darwin |
|
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| Molecular basis of Mucopolysaccharidosis type II in Portugal: identification of four novel mutations |
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| When body segmentation goes wrong |
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| To test or not to test: an ethical conflict with presymptomatic testing of individuals at 25% risk for Huntington's disorder |
|
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|
|
| Human <i>HOX</i> gene mutations |
|
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|
|
| Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21 |
|
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|
|
| Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome |
|
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|
|
| Two novel mutations in a purine nucleoside phosphorylase (PNP)‐deficient patient |
|
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|
|
|
|
|
|
|
| Alpha‐1‐antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys |
|
|
|
|
|
✓ |
|
|
European populations; Europe |
| Consanguinity and its relevance to clinical genetics |
|
|
|
|
|
|
|
|
|
| Waardenburg syndrome type 3 (Klein–Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of <i>PAX3</i>: a simple variant or a true syndrome? |
|
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|
|
| Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p |
|
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|
|
| Recurrent mutations in the <i>COL1A2</i> gene in patients with osteogenesis imperfecta |
|
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|
|
| History of genetics through philately – Carl Linnaeus (Carl von Linné) |
|
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|
|
| Apolipoprotein E polymorphism and lipid levels differ by gender and family history of diabetes: the Rancho Bernardo Study |
|
|
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|
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|
|
|
|
| Living with Marfan syndrome II. Medication adherence and physical activity modification |
|
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|
|
|
|
|
|
|
| Pyruvate kinase deficiency: prevalence of the 1456C→T mutation in the Portuguese population |
|
|
|
|
|
|
✓ |
|
Portuguese population |
| Grebe syndrome in Vietnamese sisters: not Agent Orange |
|
|
|
|
|
|
|
|
|
| The molecular basis of cystic fibrosis in South Africa |
|
|
|
✓ |
|
✓ |
✓ |
✓ |
South Africans of European origin; coloured and black |
| Three‐way unbalanced translocation in a mildly dysmorphic mentally retarded child |
|
|
|
|
|
|
|
|
|
| Shakespeare as a geneticist<sup>1</sup> |
|
|
|
|
|
|
|
|
|
| Identification of the Arg1086His mutation in the alpha subunit of the voltage‐dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia |
|
|
|
|
|
|
|
|
|
| Evidence for locus heterogeneity in the Camurati–Engelmann (DPD1) Syndrome |
|
|
|
|
|
|
|
|
|
| Fibrillin‐1 (<i>FBN1</i>) gene frameshift mutations in Marfan patients: genotype–phenotype correlation |
|
|
|
|
|
|
|
|
|
| Both alleles of the M235T polymorphism of the angiotensinogen gene can be a risk factor for myocardial infarction |
|
|
|
|
|
|
|
|
|
| Further evidence for linkage of low–mid frequency hearing impairment to the candidate region on chromosome 4p16.3 |
|
|
|
|
|
|
|
|
|
| A <i>de novo</i> mutation (<i>R279C</i>) in the <i>P63</i> gene in a patient with EEC syndrome |
|
|
|
|
|
|
|
|
|
| Shutting off mammalian gene expression the easy way |
|
|
|
|
|
|
|
|
|
| Lack of association of the common TaqIB polymorphism in the cholesteryl ester transfer protein gene with angiographically assessed coronary atherosclerosis |
|
|
|
|
|
|
|
|
|
| The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years |
|
|
|
|
|
|
|
|
|
| A family with a grand‐maternally derived interstitial duplication of proximal 15q |
|
|
|
|
|
|
|
|
|
| The beta‐globin locus control region versus gene therapy vectors: a struggle for expression |
|
|
|
|
|
|
|
|
|
| An HphI polymorphism in the E‐selectin gene is associated with premature coronary artery disease |
|
|
|
|
|
|
|
|
|
| Advances in the detection of chromosomal aberrations using spectral karyotyping |
|
|
|
|
|
|
|
|
|
| The ethics of benefit sharing |
|
|
|
|
|
|
|
|
|
| Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation<sup>1</sup> |
|
|
|
|
|
|
✓ |
✓ |
Palestinian |
| Maternal component in the familial aggregation of hypertension |
|
✓ |
|
|
|
|
|
|
|
| Determination of a positive malignant hyperthermia (MH) disposition without the <i>in vitro</i> contracture test in families carrying the RYR1 Arg614Cys mutation |
|
|
|
|
|
|
✓ |
✓ |
German MH families |
| Family‐based transmission disequilibrium test (TDT) and case–control association studies reveal surfactant protein A (SP‐A) susceptibility alleles for respiratory distress syndrome (RDS) and possible |
|
|
|
✓ |
|
|
✓ |
✓ |
blacks |
| Hereditary breast/ovarian cancer – pitfalls in genetic counseling |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish population; Jewish Ashkenazi population; Ashkenazi individuals; Ashkenazi women |
| Right place‐right time; real time protein–protein interactions |
|
|
|
|
|
|
|
|
|
| Distribution of α1‐antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta‐analysis |
|
|
|
|
|
✓ |
|
|
countries outside Europe; European meta‐analysis |
| Familial Down syndrome: evidence supporting cytoplasmic inheritance |
|
|
|
|
|
|
|
|
|
| Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract |
|
|
|
|
|
|
|
|
|
| Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation |
|
|
|
|
|
|
|
|
|
| Identification of the intron 14 splicing defect of the cholesteryl ester transfer protein gene in Hong Kong Chinese |
|
|
|
|
|
|
✓ |
|
Hong Kong Chinese |
| New Alzheimer’s disease susceptibility locus on chromosome 10q |
|
|
|
|
|
|
|
|
|
| Paranoia in plants |
|
|
|
|
|
|
|
|
|
| A Down syndrome case with a karyotype of 46,XY,rec(21)dup(21q)inv(21)(p11q22) derived from paternal pericentric inversion of chromosome 21 |
|
|
|
|
|
|
|
|
|
| Sequestering CBP: the problem with expanded polyglutamine repeats |
|
|
|
|
|
|
|
|
|
| A non‐sex chromosome marker in a patient with an atypical Ullrich–Turner phenotype and mosaicism of 46,X,mar/46,XX |
|
|
|
|
|
|
|
|
|
| <i>De novo</i> inverted duplication of chromosome 7(q21.3→q35): cytogenetic diagnosis confirmed by FISH analysis |
|
|
|
|
|
|
|
|
|
| Genetic studies yield conflicting data in schizophrenia |
|
|
|
|
|
|
|
|
|
| Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype |
|
|
|
|
|
|
|
|
|
| A Reply |
|
|
|
|
|
|
|
|
|
| Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis |
|
|
|
|
|
|
|
|
|
| Dwarfs in art |
|
|
|
|
|
|
|
|
|
| Relation of cardiac abnormalities and CTG‐repeat size in myotonic dystrophy |
|
|
|
|
|
|
|
|
|
| The developmental program of the hypothalamus and its disorders |
|
|
|
|
|
|
|
|
|
| Association of a single nucleotide polymorphism in <i>CPB2</i> encoding the thrombin‐activable fibrinolysis inhibitor (TAFI) with blood pressure |
|
|
|
|
|
|
✓ |
✓ |
aboriginal Canadians |
| A PCR‐based method for detecting known mutations in the human UDP galactose‐4′‐epimerase gene associated with epimerase‐deficiency galactosemia |
|
|
|
|
|
|
|
|
|
| Founder mutations in the <i>BRCA1</i> gene in west Belarusian breast‐ovarian cancer families |
|
|
|
|
|
|
|
|
|
| Recombinant Down syndrome: a case report and literature review |
|
|
|
|
|
|
|
|
|
| Silencing the quiet |
|
|
|
|
|
|
|
|
|
| Familial aggregation of QT‐interval variability in a general population: results from the NHLBI Family Heart Study |
|
|
|
|
|
|
|
|
|
| Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin‐resistant patients |
|
|
|
|
|
|
|
|
|
| Cenani–Lenz syndrome with renal hypoplasia is not linked to <i>FORMIN</i> or <i>GREMLIN</i> |
|
|
|
|
|
|
|
|
|
| Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families |
|
|
|
|
|
|
|
|
|
| Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH |
|
|
|
|
|
|
|
|
|
| APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima‐media thickness in healthy men (the Stanislas Cohort) |
|
|
|
|
|
|
|
|
|
| The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome |
|
|
|
|
|
|
✓ |
✓ |
Japanese |
| IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver–Russell syndrome |
|
|
|
|
|
|
|
|
|
| Genetic landmarks through philately: the Human Genome Project and the new millennium |
|
|
|
|
|
|
|
|
|
| LDL‐receptor gene mutations and the hypocholesterolemic response to statin therapy |
|
|
|
|
|
|
✓ |
✓ |
populations with recent genetic admixture (<400 years) |
| Flow cytometry: an ‘old’ tool for novel applications in medical genetics |
|
|
|
|
|
|
|
|
|
| Familial resemblance for glucose and insulin metabolism indices derived from an intravenous glucose tolerance test in Blacks and Whites of the HERITAGE Family Study |
|
|
|
✓ |
|
|
✓ |
✓ |
Blacks, Whites, Black families, White families |
| Haplotype analysis of the USH1D locus and genotype–phenotype correlations |
|
|
|
|
|
|
|
|
|
| Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open‐angle glaucoma |
|
|
|
|
|
|
|
|
|
| Features within the holoprosencephaly spectrum in sibs with a Robertsonian (14q;22q) translocation chromosome |
|
|
|
|
|
|
|
|
|
| Effects of pravastatin therapy on serum lipids and coronary reactivity are not associated with SREBP cleavage‐activating protein polymorphism in healthy young men |
|
|
|
|
|
|
|
|
|
| A molecular link between two disorders |
|
|
|
|
|
|
|
|
|
| A case for CREB‐dependent transcription activation in neurodegenerative disorders |
|
|
|
|
|
|
|
|
|
| Sex determination: lessons from families and embryos |
|
|
|
|
|
|
|
|
|
| Treating a mouse model for Sly disease with a novel form of gene therapy |
|
|
|
|
|
|
|
|
|
| A super sensor for DNA integrity: bigger is better |
|
|
|
|
|
|
|
|
|
| Distal limb malformations: underlying mechanisms and clinical associations |
|
|
|
|
|
|
|
|
|
| Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features |
|
|
|
|
|
|
|
|
|
| Real‐time quantitative PCR analysis for α‐thalassemia‐1 of Southeast Asian type deletion in Taiwan |
|
|
|
|
|
|
|
|
|
| Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review |
|
|
|
|
|
|
|
|
|
| The role of genomic imprinting in human developmental disorders: lessons from Prader–Willi syndrome |
|
|
|
|
|
|
|
|
|
| Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis |
|
|
|
|
|
|
|
|
|
| Monsters, myths and syndromes depicted on stamps |
|
|
|
|
|
|
|
|
|
| Genetic evidence to exclude the androgen receptor co‐factor, ARA70 (NCOA4) as a candidate gene for the causation of undermasculinised genitalia |
|
|
|
|
|
|
|
|
|
| <i>CYP21</i> mutations and congenital adrenal hyperplasia |
|
|
|
|
|
|
|
|
|
| The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology |
|
|
|
|
|
|
|
|
|
| Tetrasomy 21 due to a <i>de novo</i> Robertsonian translocation t(14;21) and an additional free trisomy 21 |
|
|
|
|
|
|
|
|
|
| Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques |
|
|
|
|
|
|
|
|
|
| Discoveries in Charcot–Marie–Tooth disease, Crohn's disease and Bardet–Biedl syndrome 4 |
|
|
|
|
|
|
|
|
|
| Trisomy 17p10‐p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype |
|
|
|
|
|
|
|
|
|
| PCR–PRINS–FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype |
|
|
|
|
|
|
|
|
|
| A systematic search for single nucleotide polymorphisms (SNPs) in the insulin receptor gene: association of an SNP with hyperlipidemia in Japanese type 2 diabetic subjects |
|
|
|
|
|
|
✓ |
|
Japanese |
| Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the −93G/D9N variant predisposes to low HDL‐C/high triglycerides |
|
|
|
|
|
|
|
|
|
| Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo‐obstruction |
|
|
|
|
|
|
|
|
|
| A phosphatase mutation implicated in multiple sclerosis |
|
|
|
|
|
|
|
|
|
| A novel mutation in exon 2 of the low‐density lipoprotein‐receptor gene in a patient with homozygous familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Epidemiology of myotonic dystrophy in Italy: re‐apprisal after genetic diagnosis |
|
|
|
|
|
|
|
|
|
| Risk factors for cataract in Chinese patients with type 2 diabetes: evidence for the influence of the aldose reductase gene |
|
|
|
|
|
|
|
|
|
| Novel mutation of the Spastin gene in familial spastic paraplegia |
|
|
|
|
|
|
|
|
|
| Rett syndrome from quintuple and triple deletions within the <i>MECP2</i> deletion hotspot region |
|
|
|
|
|
|
|
|
|
| Genetic heterogeneity in Korean families with autosomal‐dominant polycystic kidney disease (ADPKD): the first Asian report |
|
|
|
|
|
|
✓ |
✓ |
Western countries; Western population |
| High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia |
|
|
|
|
|
|
|
|
|
| Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region |
|
|
|
|
|
|
|
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| The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease |
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| Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis |
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| The fragile X gene and its function |
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| History of genetics through philately – deafness |
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| The ‘flap’ endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease |
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| Clinical and molecular studies of a large family with desmin‐associated restrictive cardiomyopathy |
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| Identification of fifteen novel mutations and genotype–phenotype relationship in Fabry disease |
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| Hemochromatosis mutations C282Y and H63D in ‘cis’ phase |
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✓ |
✓ |
Irish/Belgian; Irish/Belgian female |
| <i>PAX6</i> mutation in a family with aniridia, congenital ptosis, and mental retardation |
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| Discoveries in Charcot–Marie–Tooth disease, Crohn's disease and Bardet–Biedl syndrome 4 |
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| Medical genetics and patient use of the Internet |
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| Genetic determinants of type 2 diabetes mellitus |
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| Familial case of Potocki–Shaffer syndrome associated with microdeletion of <i>EXT2</i> and <i>ALX4</i> |
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| Resolution of a mispaired secondary structure intermediate could account for a novel micro‐insertion/deletion (387 insA/del 8 bp) in the <i>PYGM</i> gene causing McArdle's disease |
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| Mice and men waltz together towards an understanding of hereditary deafness |
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| Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open‐angle glaucoma |
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✓ |
✓ |
Japanese, Chinese |
| W44C mutation in the connexin 26 gene associated with dominant non‐syndromic deafness |
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| The VACTERL association: lessons from the Sonic hedgehog pathway |
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| The risk for congenital heart defects in offspring of individuals with congenital heart defects |
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| Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in <i>RLBP1</i> |
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| The additive effect of neurotransmitter genes in pathological gambling |
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✓ |
✓ |
race |
| Goals of genetic counseling |
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| Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone |
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| Hypermobility type of Ehlers–Danlos syndrome: influence of pregnancies |
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| Living with Marfan syndrome I. Perceptions of the condition |
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| HotSpots |
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| Human artificial chromosomes: emerging from concept to reality in biomedicine |
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| HotSpots |
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| 7th International Meeting on Psychosocial Aspects of Genetic Testing for Hereditary Breast and/or Ovarian Cancer (HBOC) and Hereditary Non‐polyposis Colorectal Cancer (HNPCC) |
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| Hammerhead ribozyme as a therapeutic agent for hyperlipidemia: Production of truncated apolipoprotein B and hypolipidemic effects in a dyslipidemia murine model |
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| Prolonged correction of hyperlipidemia in mice with familial hypercholesterolemia using an adeno-associated viral vector expressing very-low-density lipoprotein receptor |
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| BAC to basics in understanding human Down syndrome |
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| HotSpots |
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| British Human Genetics Conference |
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| Antley–Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity |
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| HotSpots |
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| The budding utility of yeast artificial chromosomes in modeling human disease |
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| Long-term reversal of hypercholesterolemia in low-density lipoprotein receptor (LDLR)-deficient mice by adenovirus-mediated LDLR gene transfer combined with CD154 blockade |
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