Roberts Williamson
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Biology
Roberts Williamson's Degrees
- PhD Neuroscience Stanford University
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(Suggest an Edit or Addition)Roberts Williamson's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease (1991) (4571)
- A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. (1996) (1236)
- Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis (1995) (677)
- Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy (1992) (616)
- Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy (1992) (602)
- Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. (1994) (477)
- Localization of cystic fibrosis locus to human chromosome 7cen–q22 (1985) (464)
- Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. (1983) (365)
- Friedreich ataxia: an overview (2000) (332)
- A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands (1987) (331)
- Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome (1997) (327)
- SIMPLE NON-INVASIVE METHOD TO OBTAIN DNA FOR GENE ANALYSIS (1988) (325)
- Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy (1982) (307)
- Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus (1992) (303)
- Mapping of mutation causing Friedreich's ataxia to human chromosome 9 (1988) (295)
- Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1 (1993) (290)
- Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism. (1997) (288)
- Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families (1987) (274)
- PREDISPOSING LOCUS FOR ALZHEIMER'S DISEASE ON CHROMOSOME 21 (1989) (267)
- Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry (1981) (241)
- Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization (2000) (237)
- Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. (1991) (223)
- Evidence that a locus for familial psoriasis maps to chromosome 4q (1996) (218)
- High frequency hearing loss correlated with mutations in the GJB2 gene (2000) (210)
- Analysis of the β-δ-globin gene loci in normal and hb lepore DNA: Direct determination of gene linkage and intergene distance (1978) (197)
- Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. (2001) (189)
- DIRECT GENE ANALYSIS OF CHORIONIC VILLI: A POSSIBLE TECHNIQUE FOR FIRST-TRIMESTER ANTENATAL DIAGNOSIS OF HAEMOGLOBINOPATHIES (1981) (172)
- Safer injection facility use and syringe sharing in injection drug users (171)
- The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion. (1974) (164)
- Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure. (2003) (163)
- Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. (1987) (157)
- Efficient and precise engineering of a 200 kb β-globin human/bacterial artificial chromosome in E. coli DH10B using an inducible homologous recombination system (1999) (155)
- Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. (1984) (152)
- Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure. (2002) (141)
- Screening for carriers of cystic fibrosis through primary health care services. (1991) (139)
- Evidence for a single gene effect causing polycystic ovaries and male pattern baldness. (1993) (136)
- Clinical and genetic study of Friedreich ataxia in an Australian population. (1999) (132)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (1991) (129)
- Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. (1984) (128)
- Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. (2000) (126)
- Haplotype transmission disequilibrium and evidence for linkage of the CHRNA7 gene region to schizophrenia in Southern African Bantu families. (2000) (126)
- Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype (2003) (123)
- Linkage relationships of paraoxonase (PON) with other markers: indication of PON‐cystic fibrosis synteny (1985) (123)
- Linkage of an X-chromosome cleft palate gene (1987) (119)
- Properties of rapidly labelled deoxyribonucleic acid fragments isolated from the cytoplasm of primary cultures of embryonic mouse liver cells. (1970) (118)
- Mouse globin gene expression in erythroid and non-erythroid tissues (1976) (112)
- Cloning of Drosophila choline acetyltransferase cDNA. (1986) (112)
- Association between the COMT Val158Met polymorphism and propensity to anxiety in an Australian population-based longitudinal study of adolescent health (2005) (111)
- Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms (1980) (110)
- “You're one of us now”: Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP) (2008) (107)
- Identifying genes predisposing to atopic eczema. (1999) (105)
- Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia (2002) (104)
- Psychological and social consequences of community carrier screening programme for cystic fibrosis (1992) (104)
- Detection of aneuploidy in single cells using comparative genomic hybridization (1999) (100)
- A COMMON DNA POLYMORPHISM OF THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE AND ITS USE IN DIAGNOSIS (1985) (98)
- FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES (1986) (98)
- PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS BY DNA AMPLIFICATION FOR DETECTION OF KM-19 POLYMORPHISM (1988) (97)
- Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene. (1991) (97)
- Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis (2005) (96)
- Structure of the human fetal globin gene locus (1979) (93)
- Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis. (2002) (93)
- Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms (2006) (92)
- The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. (1991) (92)
- Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. (1992) (90)
- Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. (1990) (90)
- An intron nucleotide sequence variant in a cloned β+-thalassaemia globin gene (1981) (89)
- 5' polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries. (1996) (89)
- Association between 5-HTTLPR genotypes and persisting patterns of anxiety and alcohol use: results from a 10-year longitudinal study of adolescent mental health (2005) (84)
- An international survey of predictive genetic testing in children for adult onset conditions (2005) (83)
- Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. (1986) (76)
- The Friedreich's ataxia gene encodes a novel phosphatidylinositol–4–phosphate 5–kinase (1996) (75)
- Genetic analysis of DNA from single human oocytes: a model for preimplantation diagnosis of cystic fibrosis. (1989) (75)
- Genotype analysis for ΔF508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease (1992) (73)
- Translation of mouse globin messenger ribonucleic acid from which the poly(adenylic acid) sequence has been removed. (1974) (73)
- Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. (1988) (73)
- Cystic fibrosis mouse with intestinal obstruction (1992) (72)
- Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic (2000) (70)
- Universal community carrier screening for cystic fibrosis? (1993) (70)
- Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. (1983) (69)
- The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene (1998) (68)
- Structure and sequence of the human homeobox gene HOX7. (1991) (68)
- Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia (2003) (67)
- Attitudes to carrier screening for cystic fibrosis: a survey of health care professionals, relatives of sufferers and other members of the public. (1991) (66)
- Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. (1993) (65)
- High incidence of complex chromosome abnormality in cleavage embryos from patients with repeated implantation failure. (2007) (65)
- Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia. (1987) (64)
- There are approximately 20 actin gene in the human genome. (1981) (62)
- ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE (1989) (60)
- “Holding your breath”: Interviews with young people who have undergone predictive genetic testing for Huntington disease (2007) (60)
- GUTHRIE SPOTS FOR DNA-BASED CARRIER TESTING IN CYSTIC FIBROSIS (1988) (57)
- The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. (1983) (57)
- Engineering EGFP reporter constructs into a 200 kb human beta-globin BAC clone using GET Recombination. (2000) (57)
- Experience with new DNA markers for the diagnosis of cystic fibrosis. (1988) (56)
- COMT Val158Met and 5HTTLPR functional loci interact to predict persistence of anxiety across adolescence: results from the Victorian Adolescent Health Cohort Study (2007) (56)
- On genetic and environmental factors in Menière's disease. (1994) (54)
- Insertion of disease-causing mutations in BACs by homologous recombination in Escherichia coli. (2000) (53)
- Human globin gene analysis for a patient with beta-o/delta beta-thalassemia. (1975) (53)
- The structure of the human -globin gene in -thalassaemia (1979) (53)
- The gene for apolipoprotein C‐ll is closely linked to the gene for apolipoprotein E on chromosome 19 (1984) (53)
- Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome) (1995) (53)
- Microdissection of and microcloning from the short arm of human chromosome 2 (1986) (53)
- Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice (2004) (52)
- The size of fibroin messenger RNA and its polyadenylic acid content (1975) (52)
- SAME-DAY, FIRST-TRIMESTER ANTENATAL DIAGNOSIS FOR CYSTIC FIBROSIS BY GENE AMPLIFICATION (1988) (52)
- Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19 (1986) (51)
- Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. (1988) (51)
- Presence of gene for β globin in homozygous β0 thalassaemia (1976) (51)
- Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy (1985) (50)
- Detection of aneuploidy in single cells using comparative genomic hybridization. (1999) (49)
- Isolation and partial sequence of recombinant plasmids containing human α-, β- and γ-globin cDNA fragments (1978) (47)
- Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome. (1990) (46)
- GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS (1988) (45)
- A humanized mouse model for a common β0-thalassemia mutation (2005) (45)
- The isolation of cDNA clones for human apolipoprotein E and the detection of apoE RNA in hepatic and extra‐hepatic tissues. (1983) (45)
- Nicotine dependence in a prospective population-based study of adolescents: the protective role of a functional tyrosine hydroxylase polymorphism. (2004) (45)
- Variation of short tandem repeats within and between populations. (1993) (44)
- G130V, a common FRDA point mutation, appears to have arisen from a common founder (1999) (44)
- Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven. (1986) (44)
- A humanized BAC transgenic/knockout mouse model for HbE/β-thalassemia (2006) (44)
- Gene deletion as the cause of α thalassaemia: The severe form of α thalassaemia is caused by a haemoglobin gene deletion (1974) (44)
- A cytological map of the human X chromosome - evidence for non-random recombination (1984) (43)
- Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP. (1989) (42)
- Parametric and non-parametric linkage analysis of several candidate regions for genes for human handedness (2002) (42)
- A direct estimate of the number of human γ-globin genes (1976) (41)
- Targeted modification of a human beta-globin locus BAC clone using GET Recombination and an I-Scei counterselection cassette. (2003) (41)
- Confirmation of genetic heterogeneity in familial psoriasis. (1995) (41)
- Structure of the human G gamma-A gamma-delta-beta-globin gene locus. (1979) (39)
- THE MOLECULAR-GENETICS OF ALZHEIMERS-DISEASE (1989) (39)
- Isolation and cell-free translation of chick lens crystallin mRNA during normal development and transdifferentiation of neural retina. (1978) (38)
- Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation. (1985) (38)
- The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome (1990) (38)
- Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. (1998) (37)
- Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness. (2001) (36)
- Hypersecretion of androgens by polycystic ovaries: the role of genetic factors in the regulation of cytochrome P450c17 alpha. (1996) (35)
- The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. (1993) (35)
- Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy. (1984) (35)
- Genetic analysis of DNA from single human oocytes: A model for preimplantation diagnosis of cystic fibrosis (1990) (35)
- Humanized β-Thalassemia Mouse Model Containing the Common IVSI-110 Splicing Mutation* (2006) (35)
- Association Between Dependent Smoking and a Polymorphism in the Tyrosine Hydroxylase Gene in a Prospective Population-Based Study of Adolescent Health (2004) (35)
- Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21. (1990) (34)
- A long-range restriction map encompassing the cystic fibrosis locus and its closely linked genetic markers. (1988) (33)
- Implementation of HaemScreen, a workplace‐based genetic screening program for hemochromatosis (2004) (33)
- Human globin gene expression and linkage in bone marrow and fetal liver. (1975) (32)
- The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22 (1987) (32)
- Association analysis of monoamine genes with measures of depression and anxiety in a selected community sample of siblings (2005) (32)
- Isolation and identification of chick lens crystallin messenger RNA. (1972) (32)
- LINKAGE OF COL1A2 COLLAGEN GENE TO CYSTIC FIBROSIS, AND ITS CLINICAL IMPLICATIONS (1985) (32)
- The structural gene for human coagulation factor X is located on chromosome 13q34. (1985) (31)
- The views of general practitioners on community carrier screening for cystic fibrosis. (1996) (31)
- Molecular basis of β-thalassemia in indonesia: Application to prenatal diagnosis* (1998) (31)
- Sequence complexity and tissue distribution of chick lens crystallin mRNAs. (1978) (31)
- No evidence for linkage of chromosome 22 markers to schizophrenia in southern African Bantu-speaking families. (1996) (31)
- Parents' Experiences with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study (2001) (31)
- Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. (1993) (30)
- Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. (1991) (29)
- The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis (2010) (28)
- Direct demonstration of β-globin mRNA in homozygous Ferrara β0-thalassaemia patients (1977) (27)
- The isolation of cloned cDNA sequences which are differentially expressed in human lymphocytes and fibroblasts. (1980) (27)
- A linkage study of the N-methyl-D-aspartate receptor subunit gene loci and schizophrenia in southern African Bantu-speaking families. (1996) (27)
- Should we genetically test everyone for haemochromatosis? (1999) (27)
- No evidence for linkage of chromosome 6p markers to schizophrenia in Southern African Bantu‐speaking families (1996) (27)
- A linkage study of the N‐methyl‐D‐aspartate receptor subunit gene loci and schizophrenia in southern African Bantu‐speaking families (1997) (26)
- A humanized mouse model for a common beta0-thalassemia mutation. (2005) (26)
- Regional localisation of the Friedreich ataxia locus to human chromosome 9q13----q21.1. (1990) (26)
- Development of sensitive fluorescent assays for embryonic and fetal hemoglobin inducers using the human beta -globin locus in erythropoietic cells. (2002) (26)
- Parametric and nonparametric genome scan analyses for human handedness (2003) (26)
- Friedreich's ataxia presenting as adult-onset spastic paraparesis (1998) (25)
- The velo-cardio-facial syndrome is associated with chromosome 22 deletions which encompass the DiGeorge syndrome locus (1992) (25)
- Site-specific, Rep-mediated integration of the intact β-globin locus in the human erythroleukaemic cell line K562 (2008) (25)
- Haplotype analysis to determine the position of a mutation among closely linked DNA markers. (1993) (25)
- Cellular genomic reporter assays for screening and evaluation of inducers of fetal hemoglobin. (2003) (25)
- Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. (1993) (25)
- Should we undertake genetic research on intelligence? (1999) (24)
- Gene therapy for inherited lung disorders: an insight into pulmonary defence. (2002) (24)
- Transgene copy number-dependent rescue of murine β-globin knockout mice carrying a 183 kb human β-globin BAC genomic fragment (2005) (24)
- Friedreich's ataxia: a defect in signal transduction? (1995) (24)
- A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia. (2006) (24)
- Expression of genes encoding two chains of the collagen type VI molecule during human fetal heart development. (1990) (24)
- The MEL gene: a new member of the RAB/YPT class of RAS-related genes. (1991) (24)
- Segregation of ΔF508 and normal CFTR alleles in human sperm (1993) (23)
- Linkage between the loci for cystic fibrosis and paraoxonase (1986) (23)
- The construction of a recombinant cDNA library representative of the poly(A)+ mRNA population from normal human lymphocytes. (1980) (23)
- Identification of CpG islands in a physical map encompassing the Friedreich's ataxia locus. (1991) (23)
- The cystic fibrosis locus. (1987) (22)
- The spinocerebellar ataxia 2 locus is located within a 3-cM interval on chromosome 12q23-24.1. (1995) (22)
- INDIRECT CYSTIC FIBROSIS CARRIER DETECTION (1987) (22)
- The application of molecular genetics to detection of craniofacial abnormality. (1988) (22)
- Insurance agreement to facilitate genetic testing (2002) (22)
- Transcriptional and Post‐transcriptional Defects in β0‐Thalassaemia (1977) (22)
- Liposomes and viruses for gene therapy of cystic fibrosis. (1996) (21)
- Transgene copy number-dependent rescue of murine beta-globin knockout mice carrying a 183 kb human beta-globin BAC genomic fragment. (2005) (21)
- The use of polymorphic DNA and protein markers for the third complement component for determining linkage of familial hypercholesterolaemia. (1984) (21)
- Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region. (1993) (20)
- Insertion of common mutations into the human beta-globin locus using GET Recombination and an EcoRI endonuclease counterselection cassette. (2003) (20)
- There are two gene sequences for human apolipoprotein CI (apo CI) on chromosome 19, one of which is 4 kb from the gene for apo E. (1986) (20)
- An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene. (1981) (20)
- Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease. (1992) (19)
- A rapid method to identify cosmids containing rare restriction sites. (1987) (19)
- Organization of a family of highly repetitive sequences within the human genome. (1982) (19)
- DNA testing for all (2002) (19)
- Chromatin-binding regions of EBNA1 protein facilitate the enhanced transfection of Epstein-Barr virus-based vectors. (2006) (18)
- Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. (1995) (18)
- Cystic fibrosis carrier detection using a linked gene probe. (1986) (18)
- The isolation of a genomic clone containing the apolipoprotein CII gene and the detection of linkage disequilibrium between two common DNA polymorphisms around the gene (2004) (17)
- Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19 (2004) (16)
- Phenotypic variability of Filipino β°‐thalassemia/HbE patients in Indonesia (1999) (16)
- Asymptomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload (2008) (15)
- Prenatal diagnosis of Friedreich ataxia. (1989) (15)
- The identification of a DNA polymorphism of the α fibrinogen gene, and the regional assignment of the human fibrinogen genes to 4q26-qter (2004) (15)
- Human reproductive cloning is unethical because it undermines autonomy: commentary on Savulescu. (1999) (15)
- D19S51 is closely linked with and maps distal to the myotonic dystrophy locus on 19q. (1991) (15)
- Current Developments in the Molecular Genetics of the Polycystic Ovary Syndrome (1998) (14)
- Failure to exclude a possible schizophrenia susceptibility locus on chromosome 13q14.1‐q32 in Southern African Bantu‐speaking families (1998) (14)
- Physical and genetic map of 5q31: use of fluorescence in situ hybridization data to identify errors in the CEPH database (1994) (14)
- Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred. (1994) (14)
- Towards a complete linkage map of the human X chromosome. (1986) (14)
- Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome (2004) (14)
- Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. (1983) (14)
- Synthesis of a modified gene encoding human ornithine transcarbamylase for expression in mammalian mitochondrial and universal translation systems: a novel approach towards correction of a genetic defect. (1996) (14)
- Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. (1978) (14)
- The detection and use of hemoglobin mutants in the direct analysis of human globin genes. (1980) (13)
- Cystic fibrosis is not caused by a defect in the gene coding for human complement C3. (1983) (13)
- Genetic homogeneity of cystic fibrosis. (1986) (13)
- Linkage relationships of the protein kinase C gamma gene which exclude it as a candidate for myotonic dystrophy. (1988) (13)
- Providing services for families with a genetic condition: a contrast between cystic fibrosis and Down syndrome. (2003) (13)
- LINKAGE STUDY BETWEEN THE AMYLOID GENE AND FAMILIAL ALZHEIMERS-DISEASE (1987) (12)
- Isolation and characterisation of cDNA clones for the Aα- and γ-chains of human fibrinogen (1983) (12)
- Complementation of α-thalassaemia in α-globin Knockout Mice with a 191 kb Transgene Containing the Human α-Globin Locus (2004) (12)
- Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect. (1993) (12)
- Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia (2004) (12)
- A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19. (1986) (12)
- Genes for left-handedness: How to search for the needle in the haystack? (2001) (12)
- Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes (1987) (12)
- Polymorphisms of human γ-globin genes in Mediterranean populations (1979) (12)
- Gene for apolipoprotein CII is on human chromosome 19 (1984) (12)
- Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects (1994) (11)
- The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis. (1990) (11)
- “Cytoplasmic” DNA from primary embryonic cell cultures is not informational (1972) (11)
- hyperactivity disorder-like phenotype is associated with an attention deficit DOCK 3 sodium / hydrogen exchanger family and Disruption of a novel member of a (2003) (11)
- Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk. (1989) (11)
- Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome (2004) (11)
- Cloning of carp preproinsulin cDNA in the bacterial plasmid pBR322. (1980) (11)
- Integration of functional bacterial artificial chromosomes into human cord blood-derived multipotent stem cells (2009) (11)
- A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens. (1993) (11)
- A comparison of in situ hybridization techniques for gene localization. (1977) (11)
- Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19 (2004) (10)
- Disruption of the cystic fibrosis transmembrane conductance regulator gene in embryonic stem cells by gene targeting (1992) (10)
- Application of recombinant DNA technology to prenatal detection of inherited defects. (1983) (10)
- Sane genetics for schizophrenia (2000) (10)
- Insertion of modifications in the β-globin locus using GET recombination with single-stranded oligonucleotides and denatured PCR fragments (2003) (10)
- What Predicts the Use of Genetic Counseling Services After the Birth of a Child with Down Syndrome? (2003) (10)
- Localization of a mutant gene for cleft palate and ankyloglossia in an X-linked Icelandic family. (1991) (9)
- Familial apolipoprotein CII deficiency: A preliminary analysis of the gene defect in two independent families (1984) (9)
- Ethical and legal issues and the “new genetics” (2003) (9)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 27 of 27) (1991) (9)
- The translation of mouse globin mRNA from which the polyadenylic acid sequence has been removed in a reinitiating protein synthesis system. (1974) (9)
- Exclusion of the neuronal nitric oxide synthase gene and the human achaete-scute homologue I gene as candidate loci for spinal cerebellar ataxia 2. (1995) (9)
- Linkage of DNA probe B79a (D7S13) to cystic fibrosis. (1987) (9)
- Cystic fibrosis linkage exclusion data. (1986) (9)
- Genetic Analysis of Glucokinase and the Chromosome 20 Diabetes Susceptibility Locus in Families with Type 2 Diabetes (1994) (8)
- Use of chromosomal translocations with in situ DNA hybridisation to confirm localisation of human 5S ribosomal RNA genes. (1979) (8)
- Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis. (1987) (8)
- The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase) (2004) (8)
- Complementation of alpha-thalassaemia in alpha-globin knockout mice with a 191 kb transgene containing the human alpha-globin locus. (2004) (8)
- Regional localization of three probes closely linked to the cystic fibrosis locus by deletion analysis. (1987) (8)
- A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers. (1987) (8)
- General practice and new genetics: what do general practitioners know about community carrier screening for cystic fibrosis? (1995) (8)
- Non-parametric analysis of chromosome 6p24-22 marker data and schizophrenia in southern African Bantu-speaking families. (1997) (8)
- Kallmann syndrome gene (KAL-X) is not mutated in schizophrenia. (1999) (7)
- Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13) (1986) (7)
- The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers (2004) (7)
- Gene Therapy for Familial Adenomatous Polyposis (1998) (7)
- The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene —a useful marker for human chromosome 2 (1986) (7)
- The isolation and characterisation of cDNA and genomic clones for human lecithin: cholesterol acyltransferase. (1987) (7)
- A 191-kb genomic fragment containing the human α-globin locus can rescue α-thalassemic mice (2005) (7)
- A video to inform and reassure autonomous cystic fibrosis carriers identified by a community screening programme (1996) (7)
- Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation. (1986) (7)
- Phenotypic variability of Filipino beta(o)-thalassemia/HbE patients in Indonesia. (1999) (7)
- Linkage between the cystic fibrosis locus and markers on chromosome 7q. (1986) (7)
- O-10. Preimplantation diagnosis of aneuploidy using comparative genomic hybridization (2002) (7)
- Nucleolus-organiser regions in familial extra metacentric human chromosomes (1980) (7)
- Restriction enzyme analysis of the β-globin gene in DNA from β°-thalassaemic subjects from Ferrara (1979) (7)
- Genetic linkage relationships between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy (2004) (6)
- Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency (1990) (6)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 6 of 14) (1990) (6)
- Genetic testing and counselling for congenital bilateral absence of the vas deferens (1994) (6)
- Segregation of delta F508 and normal CFTR alleles in human sperm. (1993) (6)
- Uptake of prenatal screening for chromosomal anomalies: impact of test results in a previous pregnancy (2003) (6)
- Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis. (1988) (6)
- Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11 (2004) (6)
- Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis (2004) (5)
- Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedreich's ataxia (1990) (5)
- Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis (1987) (5)
- The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4. (1986) (5)
- Amplification of DNA for detection of cystic fibrosis-linked polymorphisms. (1989) (5)
- Molecular cloning and localization to chromosome 6 of mouseINT1L1 gene (1989) (5)
- Isolation of DNA from the centromere of human chromosome 7 by microdissection (1997) (5)
- The number of globin gene sequences in "cytoplasmic" DNA fragments. (1976) (5)
- A 191-kb genomic fragment containing the human alpha-globin locus can rescue alpha-thalassemic mice. (2005) (4)
- Alzheimer’s Disease and Chromosome 21 (1989) (4)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 14 of 14) (1990) (4)
- Delta-beta-thalassemia is due to a gene deletion. (1976) (4)
- Genes for ϒ-globin in human adult erythroid DNA (1977) (4)
- Linkage analysis oftwodonedDNA sequences flanking theDuchenne muscular dystrophy locus on theshort armofthehumanX chromosome (1983) (4)
- Molecular approaches to dysmorphology. (1988) (4)
- Possible Applications of Recombinant DNA Technology to the Diagnosis and Study of Variants of α1-Antitrypsin (1985) (4)
- Chicken globin gene number. (1976) (4)
- Prevalence and nature of connexin 26 mutations in children with non‐syndromic deafness (2001) (4)
- Reply to Richards: “Predictive Genetic Testing of Adolescents for Huntington Disease: A Question of Autonomy and Harm” (2008) (4)
- Isolation of a polymorphic genomic clone from chromosome 7 (1987) (4)
- ΔF508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population (1990) (3)
- Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7 (1987) (3)
- The use of synthetic oligonucleotides in the detection of the Z variant of α1-antitrypsin (α1-AT) (1984) (3)
- A nuclear precursor to human γ-globin messenger RNA (1979) (3)
- Messenger RNA in animal cells. (1972) (3)
- Isolation of mouse reticulocyte globin messenger ribonucleoprotein by affinity chromatography using oligo(T)-cellulose. (1975) (3)
- MOLECULAR STUDIES OF MONOSOMY-22Q11 AND ITS CLINICAL CONSEQUENCES (1991) (3)
- Mapping the a-Globin Genes in an Algerian HbH Patient and His Family (2005) (3)
- Construction and partial characterization of a human liver cDNA library. (1985) (3)
- Preimplantation embryo screening using comparative genomic hybridization (2003) (3)
- Allele frequencies of polymorphic short tandem repeat (STR) loci. (1994) (3)
- X-linked cleft palate: the gene is localized between polymorphic DNA markers DXYS12 and DXS17 (1988) (3)
- The divergence between human and baboon globin genes. (1976) (3)
- Molecular Approaches to identify the cystic fibrosis gene defect (1987) (2)
- Cystic fibrosis haplotype association and the ΔF508 mutation in adult British CF patients (1990) (2)
- Cystic fibrosis haplotype association and the delta F508 mutation in adult British CF patients. (1990) (2)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 24 of 27) (1991) (2)
- Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q (1988) (2)
- Linkage of the Col1A2 collagen gene to cystic fibrosis (1985) (2)
- A c-DNA probe for the oncogene c-MEL (pC7-1) recognises a polymorphism with NcoI. (1987) (2)
- CATCH-22 - CAN MOLECULAR GENETICS EXPLAIN THE PHENOTYPE (1995) (2)
- The EUROGEM map of human chromosome 22. (1994) (2)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 9 of 14) (1990) (2)
- The new genetics. What are the everyday clinical applications? (1999) (2)
- Fetal cells in the maternal circulation have different properties compared to fetal cells in the fetal circulation (2003) (2)
- Screening for genetic diseases with molecular probes. (1986) (2)
- Clinical and Pathologic Features of Chromosome 21‐Linked Familial Alzheimer's Disease (1991) (2)
- Use of matrix-immobilised recombinant plasmids to purify chain-specific rabbit globin complementary DNAs. (1978) (2)
- Isolation and partial sequence of recombinant plasmids containing human alpha-, beta- and gamma-globin cDNA fragments. (1978) (2)
- Confirmation and refinement of the localisation of the c-MEL locus on chromosome 19 by physical and genetic mapping (1989) (2)
- The implications of genetic variation in human pathology. (1984) (2)
- The mendelian inheritance of a human X chromosome-specific DNA sequence polymorphism and its use in linkage studies of genetic disease (2004) (2)
- Letter to the editor (2005) (1)
- A direct estimate of the number of human gamma-globin genes. (1976) (1)
- β-Globin mRNA in Ferrara β0-thalassaemia (reply) (1977) (1)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 22 of 27) (1991) (1)
- THE GENES FOR APOLIPOPROTEIN-E (APOE) AND APOCL ARE LESS THAN 15KB APART ON HUMAN CHROMOSOME-19 (1985) (1)
- Two RFLPs for human alpha-2 macroglobulin (A2M). (1985) (1)
- Genetic linkage relationship between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy. (1983) (1)
- Direct demonstration of beta-globin mRNA in homozygous Ferrara betaO-thalassaemia patients. (1977) (1)
- Isolation and ordering of bacteriophage genomic clones corresponding to two YACs from 19q13.3. (1993) (1)
- Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus (1988) (1)
- Gene Mapping in Cystic Fibrosis and Its Clinical Applications (1989) (1)
- CLONED GENE PROBES FOR CARRIER DETECTION IN MUSCULAR DYSTROPHY (1983) (1)
- Isolation and characterisation of cDNA clones for the A alpha- and gamma-chains of human fibrinogen. (1983) (1)
- The purification of human DNA fragments containing benzpyrene adducts. (1982) (1)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 21 of 27) (1991) (1)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 23 of 27) (1991) (1)
- Molecular genetics and the basic defect causing cystic fibrosis. (1986) (1)
- Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus (1989) (1)
- DNA POLYMORPHISM OF THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE - A USEFUL LINKAGE MARKER FOR CHROMOSOME-19 (1985) (1)
- The isolation, mapping and transcription in vitro of a beta 0-thalassaemia globin gene. (1981) (1)
- Isolation of a polymorphic DNA sequence (lambda 82B, D8S2) from chromosome eight. (1986) (1)
- Isolation of a polymorphic DNA sequence (λ 82B, D8S2) from chromosome eight (1986) (1)
- The incidence of ΔF508 CF mutation, and associated haplotypes, in a sample of English CF families (1990) (1)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 16 of 27) (1991) (1)
- Brief report: Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization (2001) (1)
- The use of recombinant DNA technology to study polygenic hyperlipidaemia. (1984) (1)
- Genes for gamma-globin in human adult erythroid DNA. (1977) (1)
- The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families. (1990) (1)
- The structure of the human beta-globin gene in beta-thalassaemia. (1979) (1)
- Healing in the genes (2000) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 11 of 14) (1990) (0)
- Molecular Genetics of Myotonic Dystrophy (1989) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 26 of 27) (1991) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 7 of 27) (1991) (0)
- Physical andgenetic analysis ofcosmids fromthevicinity ofthecystic fibrosis locus (1987) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 6 of 27) (1991) (0)
- FurtherDataSupporting LinkagebetweenCystic Fibrosis andthemetOncogene andHaplotype Analysis withmetandpJ3.11 (1986) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 2 of 14) (1990) (0)
- Construction and preliminary characterization of a microdissected human chromosome 21p mini-library (1994) (0)
- Genetic dissection of the HLA region using haplotypes of Tasmanians with multiple sclerosis (2002) (0)
- DNA ANALYSIS AND THE DIAGNOSIS OF INHERITED DISEASE (1986) (0)
- A first episode psychosis case-control genetic association study (2006) (0)
- Volume 13 Number 1 1985 Nucleic Acids Research Gene for OTC : characterisation and linkage to Duchenne muscular dystrophy (2005) (0)
- Association ofTreacher Collins SyndromeandTranslocation 6p2l.31/16p 13.11:Exclusion oftheLocusfromThese Candidate Regions (1991) (0)
- Molecular Genetics: An Approach Towards the Basic Defect Causing Cystic Fibrosis (1987) (0)
- Molecular approaches todysmorphology (1988) (0)
- fibrosis . to the clinical course of cystic DNA marker , MP 6 d-9 , is related The genotype of a new linked and (2004) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 13 of 14) (1990) (0)
- Further linkage disequilibrium data at the cystic fibrosis locus (1988) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 5 of 14) (1990) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 17 of 27) (1991) (0)
- Erratum: "Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness" (Medical Journal of Australia (2001) vol. 175 (191-194)) (2004) (0)
- Linkage analysis of chromosome 1 markers in a sibling study of depression and anxiety (GENESIS) (2002) (0)
- Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5. (1995) (0)
- short arm of human chromosome 2. Microdissection of and microcloning from the (2013) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 18 of 27) (1991) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 5 of 27) (1991) (0)
- Useofchromosomal translocations withinsitu DNA hybridisation toconfirm localisation of human5Sribosomal RNA genes (1979) (0)
- DNA Polymorphisms of the Low Density Lipoprotein (LDL) Receptor Gene (1986) (0)
- The Identification of Genes which Cause or Predispose to Mental Illness (1990) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 15 of 27) (1991) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 2 of 27) (1991) (0)
- Preliminary results from a linkage study of the N-methyl-D-aspartate (NMDA) receptor subunit genes in a sample of Southern African Bantu-speaking families multiply affected with schizophrenia (1996) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 25 of 27) (1991) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 4 of 14) (1990) (0)
- DNA markers for the cystic fibrosis locus. (1987) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 3 of 14) (1990) (0)
- CLONING OF A LIBRARY REPRESENTATIVE OF THE HUMAN X-CHROMOSOME (1981) (0)
- Muscular dystrophy and cystic fibrosis (1987) (0)
- Progress towards identification of the gene defect in cystic fibrosis (1987) (0)
- Clinical useofDNA markers linked tothegenefor Duchenne muscular dystrophy (1984) (0)
- Polymorphism of human gamma-globin genes in Mediterranean populations. (1979) (0)
- Dermatologic and ocular diseases Identifying genes predisposing to atopic eczema (1999) (0)
- FURTHER LINKAGE DISEQUILIBRIUM DATA FOR CYSTIC-FIBROSIS (1987) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 7 of 14) (1990) (0)
- The Friedreich's ataxia mutation may originate from a premutation and shows size reduction when transmitted from parent to affected child (1997) (0)
- Constructing a complete restriction map of human chromosome 19. (1988) (0)
- Attempts to identify the chromosomal localization of the Friedreich's ataxia locus. (1988) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 14 of 27) (1991) (0)
- BENEFITS AND POTENTIAL HAZARDS OP GENETIC ENGINEERING - REPORT OF A ROUND TABLE DISCUSSION (1979) (0)
- Nucleic Acids Research (2011) (0)
- Whole genome linkage scan for alcohol consumption in a selected sibling sample (2005) (0)
- Conservation of CNS1 and exclusion of its role in atopic eczema susceptibility. (2002) (0)
- Transient expression of AAV rep protein facilitates targeted integration of a 200 kb BAC containing the entire beta-globin locus (2008) (0)
- Genetic Recombination Events Which Position the Friedreich Ataxia Locus Proximal to the D 9 S I 5 / D 9 S 5 Linkage Group on Chromosome 9 q (2006) (0)
- CLONING OF CARP PREPROINSULIN cDNA IN E. COLI (1980) (0)
- Elucidating the genes for the susceptibility to depression and anxiety (2005) (0)
- 63 PRENATAL DIAGNOSIS OF CYSTIC FIBEOSIS BY LINKED DNAPROBES (1986) (0)
- Haplotype transmission disequilibrium in the alpha 7 nicotinic acetylcholine receptor subunit (CHRNA7) gene region in schizophrenia families. (2000) (0)
- The Underlying Genetic Defect in Thalassaemia, a Common Hereditary Anaemia (1975) (0)
- A RFLP for A56 (D5S) an anonymous DNA sequence from chromosome 5. (1985) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 12 of 14) (1990) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms (Part 8 of 14) (1990) (0)
- Theelectrocardiogra m isamoresensitive indicator thanechocardiography ofhypertrophic cardiomyopathy infamilies withamutation inthe MYH7 gene (1994) (0)
- THE USE OF THE MLINK LINKAGE PROGRAM IN EXCLUSION MAPPING USING CYSTIC-FIBROSIS AND CHROMOSOME-4 AS A MODEL SYSTEM (1985) (0)
- The Genetical Society of Great Britain Abstracts of Papers presented at the hundred and eighty-seventh meeting of the Society held on 5th, 6th and 7th July 1978 at the University of Manchester. (1978) (0)
- Presence of gene for beta globin in homozygous beta0 thalassaemia. (1976) (0)
- DNA Polymorphisms and Analysis of Hyperlipidaemia (1986) (0)
- Transcriptional and post-transcriptional defects in beta0-thalassaemia. (1977) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 10 of 27) (1991) (0)
- THE GENETIC BASIS OF POLYCYSTIC OVARY SYNDROME (1998) (0)
- PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS BY LINKED DNA-PROBES (1986) (0)
- The structure of the human gamma-globin gene locus and its relation to the delta/beta-globin gene locus. (1980) (0)
- Restriction enzyme analysis of the beta-globin gene in DNA from beta 0-thalassaemic subjects from Ferrara. (1979) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 8 of 27) (1991) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 19 of 27) (1991) (0)
- Determination d'une predisposition genetique a des troubles comportementaux (2002) (0)
- Microdissection ofandMicrocloning fromtheShortArmof HumanChromosome 2 (1986) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 13 of 27) (1991) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 3 of 27) (1991) (0)
- Nonsyndromic Cleft Lip and Palate : Evidence of Linkage to a Microsatellite Marker on 6 p 23 To the (2007) (0)
- A nuclear precursor to human gamma-globin messenger RNA. (1979) (0)
- THE GENETIC-MAP OF THE REGION SURROUNDING THE CYSTIC-FIBROSIS GENE DEFECT (1986) (0)
- THE STRUCTURE OF THE HUMAN γ‐GLOBIN GENE LOCUS AND ITS RELATION TO THE δ/β‐GLOBIN GENE LOCUS (1980) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 20 of 27) (1991) (0)
- The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene (1994) (0)
- THE USE OF OLIGONUCLEOTIDES AS PROBES TO IDENTIFY RARE CUTTER RESTRICTION SITES (1987) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 4 of 27) (1991) (0)
- Genethics: Involving non-scientists in the gene technology debate. (1999) (0)
- PROCEDURES FOR THE ISOLATION AND CHARACTERISATION OF SPECIFIC GENES FROM ANIMAL CELLS (1979) (0)
- GENE ANALYSIS AND THE DIAGNOSIS AND TREATMENT OF INBORN ERRORS OF METABOLISM (1980) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 9 of 27) (1991) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 12 of 27) (1991) (0)
- Seventh International Congress of Human Genetics: Molecular genetics* (1987) (0)
- Human gene-specific and chromosome-specific probes. (1982) (0)
- Although past epidemiological studies have supported the theory that there is a genetic component to schizophrenia, the genetic data have been inconsistent. However, an overall analysis indicates several chromosome regions with good candidate genes for schizophrenia susceptibility. (2000) (0)
- Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 11 of 27) (1991) (0)
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