| Patterns of associations of clinical features in neurofibromatosis 1 (NF1) |
|
|
|
|
|
|
|
|
|
| FMR1 haplotype analyses among Indians: a weak founder effect and other findings |
|
|
|
|
|
|
|
|
|
| Testing hypotheses of language replacement in the Caucasus: evidence from the Y-chromosome |
|
|
|
|
|
|
|
|
|
| Influence of interleukin-12 receptor β1 polymorphisms on tuberculosis |
|
|
|
|
|
|
|
|
|
| A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family |
|
|
|
|
|
|
✓ |
|
Italian family |
| Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot |
|
|
|
|
|
|
|
|
|
| Susceptibility gene for non-obstructive azoospermia located near HLA-DR and -DQ loci in the HLA class II region |
|
|
|
|
|
|
|
|
|
| Genetic variation in α1-antichymotrypsin and its association with Alzheimer’s disease |
|
|
|
|
|
|
|
|
|
| A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat l |
|
|
|
|
|
|
|
|
|
| Psychosocial genetic counseling |
|
|
|
|
|
|
|
|
|
| The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J |
|
|
|
|
|
|
|
|
Western Eurasian |
| Genetics in medicine (Sixth Edition) |
|
|
|
|
|
|
|
|
|
| Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus |
|
|
|
|
|
|
|
|
|
| CIA30 complex I assembly factor: a candidate for human complex I deficiency? |
|
|
|
|
|
|
|
|
|
| Transmission disequilibrium test with discordant sib pairs when parents are available |
|
|
|
|
|
|
|
|
|
| Management of genetic syndromes |
|
|
|
|
|
|
|
|
|
| Molecular characterization of a ring X chromosome in a male with short stature |
|
|
|
|
|
|
|
|
|
| Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia |
|
|
|
|
|
|
|
|
|
| Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA |
|
|
|
|
|
|
|
|
|
| A case of segmental paternal isodisomy of chromosome 14 |
|
|
|
|
|
|
|
|
|
| Endocrine Development, vol. 4. Hypothalamic-Pituitary Development: Genetic and Clinical Aspects |
|
|
|
|
|
|
|
|
|
| Antenatal and Neonatal Screening [Second Edition] |
|
|
|
|
|
|
|
|
|
| Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly |
|
|
|
|
|
|
|
|
|
| The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin |
|
|
|
|
|
|
|
|
|
| Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene |
|
|
|
|
|
|
|
|
|
| Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus |
|
|
|
|
|
|
|
|
|
| D-loop mutations in mitochondrial DNA: link with mitochondrial DNA depletion? |
|
|
|
|
|
|
|
|
|
| Genetic diversity and evolution of the human leptin locus tetranucleotide repeat |
|
|
|
|
|
|
|
|
|
| Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations |
|
|
|
|
|
|
|
|
|
| A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4 |
|
|
|
|
|
|
|
|
|
| Felix Mitelman: Database of chromosome aberrations in cancer |
|
|
|
|
|
|
|
|
|
| Distribution of intrachromosomal telomeric sequences (ITS) on Macaca fascicularis (Primates) chromosomes and their implication for chromosome evolution |
|
|
|
|
|
|
|
|
|
| Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients |
|
|
|
|
|
|
|
|
|
| A new locus for coeliac disease mapped to chromosome 15 in a population isolate |
|
|
|
|
|
|
|
|
|
| The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome |
|
|
|
|
|
|
|
|
|
| Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations |
|
|
|
|
|
|
|
|
|
| Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample |
|
|
|
|
|
|
✓ |
|
African-American |
| A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter→q11::q11→pter) |
|
|
|
|
|
|
|
|
|
| Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews |
|
|
|
|
|
|
✓ |
|
Libyan Jews; Israeli patients |
| David L. Rimoin, J. Michael Connor, Reed E. Pyeritz, Bruce R. Korf (eds): Emery and Rimoin’s Principles and Practices of Medical Genetics - Fourth Edition |
|
|
|
|
|
|
|
|
|
| Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. |
|
|
|
|
|
|
|
|
|
| Evidence for a gene influencing heart rate on chromosome 4 among hypertensives |
|
|
|
|
|
|
|
|
|
| Functional characterization of a natural variant of luteinizing hormone |
|
|
|
|
|
|
|
|
|
| Identification of a novel SCA locus ( SCA19 ) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21 |
|
|
|
|
|
|
✓ |
|
Dutch |
| Frontiers of hormone research (series editor: A.B. Grossman), volume 28: genetic disorders of endocrine neoplasia |
|
|
|
|
|
|
|
|
|
| Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts |
|
|
|
|
|
|
|
|
|
| Associations between gene expressions in breast cancer and patient survival |
|
|
|
|
|
|
|
|
|
| A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved |
|
|
|
|
|
|
|
|
|
| Y-chromosomal evidence for a strong reduction in male population size of Yakuts |
|
|
|
|
|
|
|
|
|
| Proposed guidelines for papers describing DNA polymorphism-disease associations |
|
|
|
|
|
|
|
|
|
| Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation |
|
|
|
|
|
|
|
|
|
| Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations |
|
|
|
|
|
|
|
|
|
| Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts |
|
|
|
|
|
|
|
|
|
| A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25 |
|
|
|
|
|
|
|
|
|
| Homocysteine in Health and Disease |
|
|
|
|
|
|
|
|
|
| A locus for hereditary capillary malformations mapped on chromosome 5q |
|
|
|
|
|
|
|
|
|
| Human Gene Mutations |
|
|
|
|
|
|
|
|
|
| Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia |
|
|
|
|
|
|
|
|
|
| A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects |
|
|
|
|
|
|
|
|
|
| RT-PCR splicing analysis of the NF1 open reading frame |
|
|
|
|
|
|
|
|
|
| Timing of the absence of FMR1 expression in full mutation chorionic villi |
|
|
|
|
|
|
|
|
|
| Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis |
|
|
|
|
|
|
|
|
|
| Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC |
|
|
|
|
|
|
|
|
|
| PKLR-GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations |
|
|
|
|
|
|
|
|
|
| Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon : is direct sequencing so reliable? |
|
|
|
|
|
|
|
|
|
| Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness |
|
|
|
|
|
|
|
|
|
| Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region |
|
|
|
|
|
|
|
|
|
| Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. |
|
|
|
|
|
|
|
|
|
| Simopoulos AP, Pavlou KN (eds): Nutrition and fitness: Diet, genes, physical activity and health. World review of nutrition and dietetics, vol 89 |
|
|
|
|
|
|
|
|
|
| Erratum to: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts |
|
|
|
|
|
|
|
|
|
| Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations – phenotypic spectrum and frequencies of GJB2 mutations in Austria |
|
|
|
|
|
|
|
|
|
| Folate and human development |
|
|
|
|
|
|
|
|
|
| DNA hypermethylation: when tumour suppressor genes go silent |
|
|
|
|
|
|
|
|
|
| Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors |
|
|
|
|
|
|
|
|
|
| Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication |
|
|
|
|
|
|
|
|
|
| Complex segregation analysis of hypospadias |
|
|
|
|
|
|
|
|
|
| A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers |
|
|
|
|
|
|
✓ |
|
Germans |
| Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation |
|
|
|
|
|
|
|
|
|
| Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes |
|
|
|
|
|
|
|
|
|
| The prevalence of connexin 26 ( GJB2 ) mutations in the Chinese population |
|
|
|
|
|
|
|
|
|
| Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: hint for genotyping error? |
|
|
|
|
|
|
|
|
|
| Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning |
|
|
|
|
|
|
|
|
|
| Jan Klein, Naoyuki Takahata: Where do we come from? The molecular evidence for human descent |
|
|
|
|
|
|
|
|
|
| Mitochondrial DNA 5178A polymorphism and longevity |
|
|
|
|
|
|
|
|
|
| Derek Chadwick, Jamie Goode (eds): The Genetics and Biology of Sex Determination (Novartis Symposium 244) |
|
|
|
|
|
|
|
|
|
| Pyruvate dehydrogenase E3 binding protein deficiency |
|
|
|
|
|
|
|
|
|
| Handbook of statistical genetics: |
|
|
|
|
|
|
|
|
|
| Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene |
|
|
|
|
|
|
|
|
|
| Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity |
|
|
|
|
|
|
|
|
|
| Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools |
|
|
|
|
|
|
|
|
|
| Estimation of single nucleotide polymorphism allele frequency in DNA pools by using Pyrosequencing |
|
|
|
|
|
|
|
|
|
| Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay |
|
|
|
|
|
|
|
|
|
| A life of Sir Francis Galton. From African exploration to the birth of eugenics |
|
|
|
|
|
|
|
|
|
| SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations |
|
|
|
|
|
|
|
|
|
| Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection |
|
|
|
|
|
|
|
|
|
| Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers |
|
|
|
|
|
|
|
|
|
| Announcement |
|
|
|
|
|
|
|
|
|
| Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia |
|
|
|
|
|
|
|
|
|
| Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography |
|
|
|
|
|
|
|
|
|
| London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001 |
|
|
|
|
|
|
|
|
|
| Human Chromosomes, fourth edition |
|
|
|
|
|
|
|
|
|
| Functional characterization of the new human GABAA receptor mutation β3(R192H) |
|
|
|
|
|
|
|
|
|
| FOXP2: novel exons, splice variants, and CAG repeat length stability |
|
|
|
|
|
|
|
|
|
| A genome-wide screen reveals evidence for a locus on chromosome 11 influencing variation in LDL cholesterol in the NHLBI Family Heart Study |
|
|
|
|
|
|
|
|
|
| Alan R. Clarke (ed): Transgenesis techniques — principles and protocols, 2nd edn. |
|
|
|
|
|
|
|
|
|
| Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels |
|
|
|
|
|
|
|
|
|
| Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation |
|
|
|
|
|
|
|
|
|
| Presence of fetal DNA in maternal plasma decades after pregnancy: further comments |
|
|
|
|
|
|
|
|
|
| Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly |
|
|
|
|
|
|
|
|
|
| Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity |
|
|
|
|
|
|
|
|
|
| Markers that discriminate between European and African ancestry show limited variation within Africa |
|
|
|
|
✓ |
|
|
|
European and African ancestry |
| Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2) |
|
|
|
|
|
|
|
|
|
| Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren |
|
|
|
|
|
|
|
|
|
| Bioinformatics - from genomes to drugs (2 volumes) |
|
|
|
|
|
|
|
|
|
| ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families |
|
|
|
|
|
|
|
|
|
| Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk |
|
|
|
|
|
|
|
|
|
| Evidence of multiple causal sites affecting weight in the IGF2-INS-TH region of human chromosome 11 |
|
|
|
|
|
|
|
|
|
| Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies |
|
|
|
|
|
|
|
|
|
| C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds.), B. Childs, K.W. Kinzler, B. Vogelstein (associate eds.): Molecular and metabolic bases of inherited disease, 8th edition |
|
|
|
|
|
|
|
|
|
| Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East |
|
|
|
|
|
|
|
|
|
| Characterisation of interstitial duplications and triplications of chromosome 15q11–q13 |
|
|
|
|
|
|
|
|
|
| A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation |
|
|
|
|
|
|
|
|
|
| Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism |
|
|
|
|
|
|
|
|
|
| Wiley encyclopedia of molecular medicine |
|
|
|
|
|
|
|
|
|
| Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2 |
|
|
|
|
|
|
|
|
|
| Genetics and the electroencephalogram |
|
|
|
|
|
|
|
|
|
| Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia |
|
|
|
|
|
|
|
|
|
| Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region |
|
|
|
|
|
|
|
|
|
| Identification of additional transcripts in the Williams-Beuren syndrome critical region |
|
|
|
|
|
|
|
|
|
| Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma |
|
|
|
|
|
|
|
|
|
| FISH-mapping of a 100-kb terminal 22q13 deletion |
|
|
|
|
|
|
|
|
|
| An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome |
|
|
|
|
|
|
|
|
|
| Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA |
|
|
|
|
|
|
|
|
|
| Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of birth weight |
|
|
|
|
|
|
|
|
|
| Analysis of 22 deletion breakpoints in dystrophin intron 49 |
|
|
|
|
|
|
|
|
|
| Robert J. Gorlin, M. Michael Cohen Jr, Raoul C.M. Hennekam (eds): Syndromes of the Head and Neck, 4th edition |
|
|
|
|
|
|
|
|
|
| CYP3A4-V and prostate cancer in African Americans: causal or confounding association because of population stratification? |
|
|
|
|
|
|
|
|
|
| DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding |
|
|
|
|
|
|
|
|
|
| Centromeric association of chromosome 16- and 18-derived microchromosomes |
|
|
|
|
|
|
|
|
|
| Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties |
|
|
|
|
|
|
|
|
|
| Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations |
|
|
|
|
✓ |
|
✓ |
|
West European; North African |
| Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15 |
|
|
|
|
|
|
|
|
|
| Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications |
|
|
|
|
|
|
|
|
|
| Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients |
|
|
|
|
|
|
|
|
|
| A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression |
|
|
|
|
|
|
|
|
|
| Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases |
|
|
|
|
|
|
|
|
|
| Androgen receptor CAG polymorphism and prostate cancer risk |
|
|
|
|
|
|
|
|
|
| Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data |
|
|
|
|
|
|
|
|
|
| Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11 |
|
|
|
|
|
|
|
|
|
| Mutation analysis of the coding sequence of the MECP2 gene in infantile autism |
|
|
|
|
|
|
|
|
|
| Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960 |
|
|
|
|
|
|
|
|
|
| Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD) |
|
|
|
|
|
|
|
|
|
| Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Reply |
|
|
|
|
|
|
|
|
|
| Evidence against the long-term persistence of fetal DNA in maternal plasma after pregnancy |
|
|
|
|
|
|
|
|
|
| Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency |
|
|
|
|
|
|
|
|
|
| Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12 |
|
|
|
|
|
|
|
|
|
| Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome |
|
|
|
|
|
|
|
|
|
| Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity |
|
|
|
|
|
|
|
|
|
| CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region |
|
|
|
|
|
|
|
|
|
| Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa |
|
|
|
|
|
|
|
|
|
| Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees |
|
|
|
|
|
|
|
|
|
| Intronic mutations outside of Alu -repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family |
|
|
|
|
|
|
|
|
|
| ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago |
|
|
|
|
|
|
✓ |
|
Afro-Caribbeans |
| A novel locus for Meckel-Gruber syndrome, MKS3 , maps to chromosome 8q24 |
|
|
|
|
|
|
|
|
|
| A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes |
|
|
|
|
|
|
|
|
|
| Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload |
|
|
|
|
|
|
|
|
|
| Genetic testing and risk assessment for spinal muscular atrophy (SMA) |
|
|
|
|
|
|
|
|
|
| Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome |
|
|
|
|
|
|
|
|
|
| Sequence polymorphism at the human apolipoprotein AII gene ( APOA2 ): unexpected deficit of variation in an African-American sample |
|
|
|
|
|
|
✓ |
|
African-American |
| Advances in Genetics, volume 14. Tay-Sachs Disease |
|
|
|
|
|
|
|
|
|
| MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain |
|
|
|
|
|
|
|
|
|
| Presence of fetal DNA in maternal plasma decades after pregnancy |
|
|
|
|
|
|
|
|
|
| Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy |
|
|
|
|
|
|
|
|
|
| SNP identification, haplotype analysis, and parental origin of mutations in TSC2 |
|
|
|
|
|
|
|
|
|
| Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives |
|
|
|
|
|
|
|
|
|
| SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism |
|
|
|
|
|
|
|
|
|
| Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene |
|
|
|
|
|
|
|
|
|
| October 2002 |
|
|
|
|
|
|
|
|
|