| Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes |
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| Ala45Thr polymorphism of the NEUROD1 gene and diabetes susceptibility: a meta-analysis |
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| Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II) |
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| Oligogenic combinations associated with breast cancer risk in women under 53�years of age |
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| Ocular refraction: heritability and genome-wide search for eye morphometry traits in an isolated Sardinian population |
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| The (GT)n polymorphism and haplotype of the COL1A2 gene, but not the (AAAG)n polymorphism of the PTHR1 gene, are associated with bone mineral density in Chinese |
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✓ |
|
Chinese |
| Association of ?2-HS glycoprotein (AHSG, fetuin-A) polymorphism with AHSG and phosphate serum levels |
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| Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees |
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| Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II |
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| The USH1C 216G?A splice-site mutation results in a 35-base-pair deletion |
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| Variation in meiotic recombination frequencies among human males |
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| Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L |
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| Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader?Willi syndrome |
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| An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22 |
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| Mutations |
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| Complex segregation analysis reveals a multigene model for lung cancer |
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| A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia |
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| Mitochondrial GTPase mitofusin 2 mutation in Charcot?Marie?Tooth neuropathy type 2A |
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| The impact of MECP2 mutations in the expression patterns of Rett syndrome patients |
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| Linkage disequilibrium between microsatellite markers in the Swedish Sami relative to a worldwide selection of populations |
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| Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus |
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| A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome |
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| A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1 |
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| Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease |
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| Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations |
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| Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease |
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| Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree |
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| Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms |
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| Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet?Biedl syndrome 1 critical interval |
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| Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family |
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| RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome |
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| Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients |
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✓ |
|
Dutch |
| Y chromosome haplogroups of elite Ethiopian endurance runners |
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| TP53 haplotype-based analysis and incidence of post-angioplasty restenosis |
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| The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis |
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| Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome |
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| The human T locus and spina bifida risk |
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| Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients |
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| Emery A.E.H., Muntoni F. (eds): Duchenne muscular dystrophy. |
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| Genome-wide linkage analysis replicates susceptibility locus for fasting plasma triglycerides: NHLBI Family Heart Study |
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| Francis Galton: Pioneer of heredity and biometry (2003) |
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| Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion |
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| Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome |
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| FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis |
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| A large MSH2 Alu insertion mutation causes HNPCC in a German kindred |
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| Positive selection in MAOA gene is human exclusive: determination of the putative amino acid change selected in the human lineage |
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| Jozef G�cz, Grant R. Sutherland (eds): Nucleotide and protein expansions and human disease. Karger, 2003, ISBN 3-8055-7621-8, 298 pp, hardcover, 95.50 Euros |
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| Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita |
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| Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola |
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| Landmarks in medical genetics: classic papers with commentaries. Peter S. Harper (ed), Oxford University Press, New York, 2004, ISBN 0-19-515930-6, 336 pages, hardcover, $89.50 |
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| A longitudinal study of X-inactivation ratio in human females |
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| Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing |
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| Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells |
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| First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability |
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|
| Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload |
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| Functional disomy resulting from duplications of distal Xq in four unrelated patients |
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| Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe |
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| Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies |
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| Comparison of the genomic structure and variation in the two human sodium-dependent vitamin C transporters, SLC23A1 and SLC23A2 |
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| Gender- and age-specific contributions of additional DNA sequence variation in the 5? regulatory region of the APOE gene to prediction of measures of lipid metabolism |
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| Mutations |
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| Inheritance mode of multiple sclerosis: the effect of HLA class II alleles is stronger than additive |
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| Association between evolutionary history of angiotensinogen haplotypes and plasma levels |
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| Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma |
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| The origin and spread of the HFE-C282Y haemochromatosis mutation |
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| Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1 |
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| Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array |
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|
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| CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds |
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|
✓ |
|
Arab and Jewish kindreds |
| E.A. Carlson (ed) Mendel?s Legacy: the origin of classical genetics (2004) |
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| Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss |
|
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|
| A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II |
|
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|
| Identification of a novel type 1 diabetes susceptibility gene, T-bet |
|
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| Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis |
|
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| Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination |
|
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|
|
| B. Wissinger, S. Kohl, U. Langenbeck (eds): Developments in ophthalmology vol 37: Genetics in ophthalmology |
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|
|
| Max Perutz (ed) I wish I?d make you angry earlier. Expanded edition (2003) |
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|
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| Thomas von Zglinicki (ed) Aging at the molecular level (2003) |
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| Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes |
|
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|
| Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data |
|
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| Mono-nucleotide repeats (MNRs): a neglected polymorphism for generating high density genetic maps in silico |
|
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|
| Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus |
|
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|
|
| A resistin gene polymorphism is associated with body mass index in women |
|
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|
|
| Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene |
|
|
|
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|
|
✓ |
|
Ashkenazi Jewish population |
| Alan E. Guttmacher, Francis S. Collins, Jeffrey M. Drazen (eds): Genomic medicine: articles from the New England Journal of Medicine |
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|
| Human Gene Mutations |
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|
| Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11) |
|
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|
|
| Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts |
|
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|
|
| Does haplotype diversity predict power for association mapping of disease susceptibility? |
|
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|
| Lexikon der Syndrome und Fehlbildungen. Ursachen, Genetik, Risiken (2003) |
|
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| A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3 |
|
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|
|
| Increased amount of the angiotensin-converting enzyme (ACE) mRNA originating from the ACE allele with deletion |
|
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|
|
| Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy |
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| Human evolutionary genetics: origins, peoples, and disease (2004) |
|
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| Mutations in the gene for the E1? subunit: a novel cause of pyruvate dehydrogenase deficiency |
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| Myotonic dystrophy: present management, future therapy (2004) |
|
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| Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses |
|
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|
| Somatic mutations of CASP3 gene in human cancers |
|
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|
| Segmental duplication associated with the human-specific inversion of chromosome�18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates |
|
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|
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|
|
| Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees |
|
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|
✓ |
|
Chinese |
| An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype |
|
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|
| Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York city |
|
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| The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster |
|
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| Mitochondrial DNA polymorphisms as risk factors for Parkinson?s disease and Parkinson?s disease dementia |
|
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| Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles |
|
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|
|
| Mutations |
|
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|
| A new locus for autosomal dominant Charcot-Marie-Tooth disease type�2 (CMT2L) maps to chromosome 12q24 |
|
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|
| Fine mapping of the Schnyder?s crystalline corneal dystrophy locus |
|
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| Fine mapping a gene for pediatric gastroesophageal reflux on human chromosome 13q14 |
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| Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer ( TOC ) minimal region on 17q25 to 42.5�kb: sequencing does not identify the causative gene |
|
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| SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome |
|
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|
| Variants of CYP46A1 may interact with age and APOE to influence CSF A�42 levels in Alzheimer?s disease |
|
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|
|
| The Genetic Basis of Common Diseases, 2nd Edition |
|
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|
|
| Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis |
|
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|
|
| Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions |
|
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|
| Small marker chromosomes in two patients with segmental aneusomy for proximal 17p |
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| SNTG1, the gene encoding ?1-syntrophin: a candidate gene for idiopathic scoliosis |
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| The origin of the isolated population of the Faroe Islands investigated using Y chromosomal markers |
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| Eric Lander, David Page, Richard Lifton (eds): Annual review of genomics and human genetics (volume 4) |
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| Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing |
|
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| Investigation of the Greek ancestry of populations from northern Pakistan |
|
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| Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type�II |
|
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|
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| A study of the distributional characteristics of FMR1 transcript levels in 238 individuals |
|
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| Detection of DNA copy number abnormality by microarray expression analysis |
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| Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region |
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| New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation |
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| Encyclopedia of the human genome |
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| New genomic region for Wegener?s granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes |
|
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| Common variants of ACE contribute to variable age-at-onset of Alzheimer’s disease |
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| Chasing genes in Alzheimer?s and Parkinson?s disease |
|
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| A novel I247T missense mutation in the haptoglobin�2 �-chain decreases the expression of the protein and is associated with ahaptoglobinemia |
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| Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene |
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| Quasi-linkage: a confounding factor in linkage analysis of complex diseases? |
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| Delineation of complex chromosomal rearrangements: evidence for increased complexity |
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| Association between IFNA genotype and the risk of sarcoidosis |
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| Microarray Gene Expression Data Analysis: A Beginners Guide |
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| Genetics of Movement Disorders |
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| The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects |
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| The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore |
|
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✓ |
|
Chinese; Asian Indians |
| Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma |
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| Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome |
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| Rowena Spencer (Editor) Conjoined twins. Developmental malformations and clinical implications |
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| Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation |
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| Mutations |
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| David Bainbridge (Editor), The X in sex: how the X chromosome controls our lives |
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| Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements |
|
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| A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of Asthma |
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| A comparison of the mutation spectra of Menkes disease and Wilson disease |
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| Hugh Markus (Editor) Report on stroke genetics |
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| Excavating Y-chromosome haplotype strata in Anatolia |
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| A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family |
|
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|
| R. Horowoski, Y. Mizuno, C.W. Olanow, W.H. Poewe, P. Riederer, J.A. Stoessl, M.B.H. Youdim (Editors) Advances in research on neurodegeneration (volume 10) |
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| The assertion that a G21V mutation in AGTR2 causes mental retardation is not supported by other studies |
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| AGTR2 mutation and mental retardation: a reply |
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| Mutations |
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| David Reiss, Jenae M. Neiderhiser, E. Mavis Hetherington, Robert Plomin (Editors): The relationship code: deciphering genetic and social influences on adolescent development |
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| Common variants within the interleukin 4 receptor ? gene (IL4R) are associated with susceptibility to osteoarthritis |
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| Haplotype mapping of the bronchiolitis susceptibility locus near IL8 |
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| Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria |
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| Update on the genetics of migraine |
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| Mexican American ancestry-informative markers: examination of population structure and marker characteristics in European Americans, Mexican Americans, Amerindians and Asians |
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✓ |
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European Americans |
| Members of the CDY family have different expression patterns: CDY1 transcripts have the best correlation with complete spermatogenesis |
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| Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome |
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| Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with a haplotype of 5-lipoxygenase |
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| Public Health Genetics |
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| Bronya J.B. Keats, Arthur N. Popper, Richard R. Fay (Editors) Springer handbook of auditory research: genetics and auditory disorders |
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| Apolipoprotein B-100 Xba I gene polymorphism in gallbladder cancer |
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| Genetics and genomics of neurobehavioral disorders |
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| G. Bates, P. Harper, L. Jones (eds): Huntington?s Disease, Third Edition |
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| Acknowledgement to referees 2003 |
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| Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm |
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| Analysis of heat-shock protein�70 gene polymorphisms and the risk of Parkinson?s disease |
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| Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy |
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| Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia�A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti |
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| A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia |
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| U. Eiholzer, D. L?Allemand, WB. Zipf (eds): Prader-Willi syndrome as a model for obesity |
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| Nucleotide and haplotypic diversity of the NOS2A promoter region and its relationship to cerebral malaria |
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| A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree |
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| Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis |
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| Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations |
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✓ |
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host non-Jewish European populations |
| Genetics of parkin-linked disease |
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| Patterns of linkage disequilibrium in the MHC region on human chromosome 6p |
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| TP53 haplotype-based analysis and incidence of post-angioplasty restenosis |
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