(Q39502026)

12 September 2017

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title

Diagnosis of genetic disease using recombinant DNA. (English)

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12 September 2017

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1

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12 September 2017

J Schmidtke

2

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12 September 2017

publication date

1 May 1986

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12 September 2017

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12 September 2017

volume

73

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12 September 2017

issue

1

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12 September 2017

page(s)

1-11

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Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids

12 September 2017

cites work

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12 December 2020

Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers

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12 December 2020

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

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12 December 2020

Rearrangement of the gene for the beta chain of the T-cell receptor in T-cell chronic lymphocytic leukemia and related disorders.

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12 December 2020

Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

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12 December 2020

Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism

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12 December 2020

A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

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12 December 2020

Structural gene for beta-nerve growth factor not defective in familial dysautonomia

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12 December 2020

Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy

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12 December 2020

Presymptomatic diagnosis of heterozygosity for familial amyloidotic polyneuropathy by recombinant DNA techniques

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12 December 2020

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

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12 December 2020

Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen

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12 December 2020

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome

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12 December 2020

Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications.

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12 December 2020

PRENATAL DIAGNOSIS OF BETA-THALASSAEMIA WITH THE SYNTHETIC-OLIGOMER TECHNIQUE

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12 December 2020

Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene

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12 December 2020

Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome

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12 December 2020

Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation

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12 December 2020

Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX

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12 December 2020

Heterogeneity of T-cell beta-chain gene rearrangements in human leukaemias and lymphomas

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12 December 2020

Human X chromosome markers and Duchenne muscular dystrophy

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12 December 2020

The structural gene for human coagulation factor X is located on chromosome 13q34

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12 December 2020

Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus. A potential diagnostic tool

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12 December 2020

An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis

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12 December 2020

Detection of single base substitutions in total genomic DNA

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12 December 2020

A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

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12 December 2020

Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: Identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants

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12 December 2020

Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques

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12 December 2020

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

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12 December 2020

Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

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12 December 2020

Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells

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12 December 2020

Cloning of human prealbumin complementary DNA. Localization of the gene to chromosome 18 and detection of a variant prealbumin allele in a family with familial amyloid polyneuropathy

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12 December 2020

Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy

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12 December 2020

Polymorphism in the 5′-Flanking Region of the Human Insulin Gene and Its Possible Relation to Type 2 Diabetes

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12 December 2020

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

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12 December 2020

Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19

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12 December 2020

DNA polymorphism and molecular pathology of the human globin gene clusters

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12 December 2020

Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta

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12 December 2020

Localization of cystic fibrosis locus to human chromosome 7cen–q22

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12 December 2020

DNA analysis in patients with hereditary fructose intolerance

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12 December 2020

Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin

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12 December 2020

Molecular approach to analyzing the human 5p deletion syndrome, cri du chat

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12 December 2020

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.

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12 December 2020

Expression of the human c-fms proto-oncogene in hematopoietic cells and its deletion in the 5q- syndrome

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12 December 2020

Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene

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12 December 2020

Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia

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12 December 2020

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta

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12 December 2020

Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

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12 December 2020

The molecular basis for genetic deficiency of the second component of human complement

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12 December 2020

Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9)

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12 December 2020

A polymorphic DNA marker genetically linked to Huntington's disease

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12 December 2020

Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts

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12 December 2020

c-Ha-ras1 is not deleted in aniridia-Wilms' tumour association.

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12 December 2020

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

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12 December 2020

Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia

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12 December 2020

Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta

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12 December 2020

Molecular analysis of the bare lymphocyte syndrome

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12 December 2020

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis

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12 December 2020

The human gene encoding GM-CSF is at 5q21-q32, the chromosome region deleted in the 5q- anomaly

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12 December 2020

DNA restriction fragment analysis of the proopiomelanocortin gene in schizophrenia and bipolar disorders

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12 December 2020

Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome

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12 December 2020

Prenatal diagnosis for alpha 1-antitrypsin deficiency

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12 December 2020

Genetic analysis of carbamyl phosphate synthetase I deficiency

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12 December 2020

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

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12 December 2020

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion

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12 December 2020

Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.

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12 December 2020

A clinically useful DNA probe closely linked to haemophilia A

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12 December 2020

Prenatal diagnosis of haemophilia A by factor VIII gene analysis

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12 December 2020

IgE heavy chain constant region genes in atopic dermatitis and senile erythroderma patients

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12 December 2020

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

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12 December 2020

Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome

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12 December 2020

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

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12 December 2020

Polymorphism in the 5′ Flanking Region of the Human Insulin Gene: A Genetic Marker for Non-Insulin-Dependent Diabetes

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12 December 2020

Rearrangement of the T-cell-receptor beta-chain gene in the diagnosis of lymphoproliferative disorders

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12 December 2020

Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe

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12 December 2020

Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy

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12 December 2020

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

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12 December 2020

Development of homozygosity for chromosome 11p markers in Wilms' tumour

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12 December 2020

Gene deletion in an Italian haemophilia B subject

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12 December 2020

Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms

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12 December 2020

A Sensitive New Prenatal Test for Sickle-Cell Anemia

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12 December 2020

Fusion of an immunoglobulin variable gene and a T cell receptor constant gene in the chromosome 14 inversion associated with T cell tumors

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12 December 2020

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

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12 December 2020

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

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12 December 2020

Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome

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12 December 2020

T-cell receptor gene rearrangements as clinical markers of human T-cell lymphomas

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12 December 2020

Familial apolipoprotein CII deficiency: a preliminary analysis of the gene defect in two independent families

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12 December 2020

Molecular Heterogeneity of Inherited Antithrombin III Deficiency

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12 December 2020

Rearrangement of the T-cell receptor beta-chain gene in non-T-cell, non-B-cell acute lymphoblastic leukemia of childhood

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12 December 2020

Restriction endonuclease mapping of gamma-delta-beta-globin region in G gamma (beta)+ HPFH and a Chinese A gamma HPFH variant

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12 December 2020

Loss of a Harvey ras allele in sporadic Wilms' tumour

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12 December 2020

Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours.

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12 December 2020

X-linked neuropathy: gene localization with DNA probes

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12 December 2020

The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus

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12 December 2020

A Polymorphic Locus Near the Human Insulin Gene Is Associated with Insulin-dependent Diabetes Melliitus

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12 December 2020

DNA polymorphism and the susceptibility to diabetes.

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12 December 2020

Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis

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12 December 2020

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

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12 December 2020

A list of cloned human DNA sequences-Supplement

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12 December 2020

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

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12 December 2020

A list of cloned human DNA sequences

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12 December 2020

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

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12 December 2020

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

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12 December 2020

Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour

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12 December 2020

Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene

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12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes

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12 December 2020

A DNA insertion in the apolipoprotein A-I gene of patients with premature atherosclerosis

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12 December 2020

Translocation of the p53 gene in t(15;17) in acute promyelocytic leukaemia

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12 December 2020

X-chromosome-specific probe DX13 for carrier detection and first trimester prenatal diagnosis in haemophilia A

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12 December 2020

Carrier detection in Becker muscular dystrophy using creatine kinase estimation and DNA analysis.

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12 December 2020

Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.

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12 December 2020

Direct identification of sickle cell anemia by blot hybridization

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12 December 2020

Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia

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12 December 2020

Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism

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12 December 2020

Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome

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12 December 2020

A gene deletion is responsible for absence of human chorionic somatomammotropin

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12 December 2020

Linkage and recombination between fragile X-linked mental retardation and the factor IX gene.

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12 December 2020

Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability

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12 December 2020

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

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12 December 2020

A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis

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12 December 2020

Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region

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12 December 2020

Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis

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12 December 2020

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

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12 December 2020

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

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12 December 2020

Multiple mutations produce delta beta 0 thalassemia in Sardinia.

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12 December 2020

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

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12 December 2020

Genetic origin of mutations predisposing to retinoblastoma

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12 December 2020

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

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12 December 2020

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

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12 December 2020

Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

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12 December 2020

DNA polymorphisms flanking the apo A-1 and insulin genes and type III hyperlipidaemia

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12 December 2020

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

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12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.

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12 December 2020

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

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12 December 2020

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

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12 December 2020

Huntington's disease: two families with differing clinical features show linkage to the G8 probe

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12 December 2020

Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism

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12 December 2020

Prenatal diagnosis of classic phenylketonuria by DNA analysis

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12 December 2020

Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

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12 December 2020

Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families

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12 December 2020

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

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12 December 2020

Feasibility of prenatal diagnosis of beta-thalassaemia with synthetic DNA probes in two Mediterranean populations

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12 December 2020

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation

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12 December 2020

Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia

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12 December 2020

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

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12 December 2020

An estimate of unique DNA sequence heterozygosity in the human genome

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12 December 2020

Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).

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12 December 2020

Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms

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12 December 2020

Molecular analysis of gene deletion in aniridia--Wilms tumor association

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12 December 2020

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

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12 December 2020

Construction of linkage maps with DNA markers for human chromosomes.

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12 December 2020

A discordant sibship analysis between beta-NGF and neurofibromatosis

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12 December 2020

Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency)

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12 December 2020

Analysis of fibrinogen genes in patients with congenital afibrinogenemia

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12 December 2020

Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe

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12 December 2020

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

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12 December 2020

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

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12 December 2020

A closely linked genetic marker for cystic fibrosis

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12 December 2020

DNA Markers for Nervous System Diseases

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12 December 2020

DNA POLYMORPHISM ADJACENT TO HUMAN APOPROTEIN A-1 GENE: RELATION TO HYPERTRIGLYCERIDAEMIA

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12 December 2020

Factor VIII gene specific probe for prenatal diagnosis of haemophilia A.

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12 December 2020

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

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12 December 2020

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

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12 December 2020

Detection of sickle-cell mutation by electrophoresis of partial RNA:DNA hybrids following solution hybridization

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12 December 2020

Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male

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12 December 2020

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

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12 December 2020

Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele

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12 December 2020

Somatic rearrangement of T-cell antigen receptor gene in human T-cell malignancies

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12 December 2020

Molecular basis for familial isolated growth hormone deficiency

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12 December 2020

Genetic analysis of familial isolated growth hormone deficiency type I

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12 December 2020

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

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12 December 2020

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

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12 December 2020

Polymorphism in the 5'-flanking region of the human insulin gene and the incidence of diabetes.

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12 December 2020

Analysis of the apoC-II gene in apoC-II deficient patients

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12 December 2020

First-trimester fetal diagnosis for haemoglobinopathies: three cases

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12 December 2020

Molecular defects in a human immunoglobulin kappa chain deficiency

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12 December 2020

Loss of genes on the short arm of chromosome 11 in bladder cancer

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12 December 2020

Identifiers

DOI

10.1007/BF00292654

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12 September 2017

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