(Q39666101)

13 September 2017

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title

Diagnosis of genetic disease using recombinant DNA. Supplement (English)

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13 September 2017

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1

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13 September 2017

J Schmidtke

2

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13 September 2017

1 September 1987

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13 September 2017

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13 September 2017

77

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13 September 2017

66-75

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13 September 2017

1

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https://scigraph.springernature.com/pub.10.1007/bf00284717

13 September 2017

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cites work

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

1 reference

12 December 2020

DNA deletion in boy with Becker muscular dystrophy

1 reference

12 December 2020

Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19

1 reference

12 December 2020

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity

1 reference

12 December 2020

Restriction enzyme MaeIII for prenatal diagnosis of alpha 1-antitrypsin deficiency

1 reference

12 December 2020

Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end processing in the human alpha 2 globin gene

1 reference

12 December 2020

ApoE deficiency: markedly decreased levels of cellular ApoE mRNA

1 reference

12 December 2020

Immunoglobulin and T-cell receptor gene rearrangement and expression in human lymphoid leukemia cells at different stages of maturation

1 reference

12 December 2020

Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms

1 reference

12 December 2020

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients

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12 December 2020

The molecular basis of severe hemophilia B in a girl

1 reference

12 December 2020

Use of catalase polymorphisms in the study of sporadic aniridia

1 reference

12 December 2020

Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13

1 reference

12 December 2020

The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes

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12 December 2020

Genetic homogeneity of cystic fibrosis

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12 December 2020

Leftward deletion alpha-thalassaemia in the Saudi Arabian population

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12 December 2020

The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4.

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12 December 2020

Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome.

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12 December 2020

Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy.

1 reference

12 December 2020

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

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12 December 2020

The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus.

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12 December 2020

Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.

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12 December 2020

Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks

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12 December 2020

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

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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

Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis

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12 December 2020

An effect of gene dosage on production of human chorionic somatomammotropin

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12 December 2020

Choroideremia-locus maps between DXS3 and DXS11 on Xq

1 reference

12 December 2020

Molecular deletion analysis in Duchenne muscular dystrophy.

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12 December 2020

A linkage study of Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster

1 reference

12 December 2020

Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis

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12 December 2020

Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome

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12 December 2020

RFLPs at the D19S19 locus of human chromosome 19 linked to myotonic dystrophy (DM).

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12 December 2020

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis

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12 December 2020

Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status

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12 December 2020

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

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12 December 2020

Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency

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12 December 2020

Cystic fibrosis carrier detection using a linked gene probe

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12 December 2020

T cell receptor gene rearrangements define a monoclonal T cell proliferation in patients with T cell lymphocytosis and cytopenia

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12 December 2020

Molecular detection and differentiation of deletions in band 13q14 in human retinoblastoma

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12 December 2020

Evidence for the involvement of GM-CSF and FMS in the deletion (5q) in myeloid disorders

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12 December 2020

Clinical application of DNA analysis in a family with OTC deficiency

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12 December 2020

Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci

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12 December 2020

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

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12 December 2020

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene

1 reference

12 December 2020

Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4)

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12 December 2020

A DNA insertion/deletion necessitates an aberrant RNA splice accounting for a mu heavy chain disease protein

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12 December 2020

18p? Syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence

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12 December 2020

Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype

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12 December 2020

Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by Southern blot procedures: study of six pedigrees in the Arao district of Japan

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12 December 2020

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I

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12 December 2020

Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis

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12 December 2020

Organization of the T-cell receptor alpha-chain gene and rearrangement in human T-cell leukaemias.

1 reference

12 December 2020

A multigene deletion within the immunoglobulin heavy-chain region

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12 December 2020

Osteogenesis imperfecta is linked to both type I collagen structural genes

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12 December 2020

Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism

1 reference

12 December 2020

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

1 reference

12 December 2020

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

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12 December 2020

Localisation of the gene for Hunter syndrome on the long arm of X chromosome

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12 December 2020

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease

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12 December 2020

De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis

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12 December 2020

Studies of a DNA marker (G8) genetically linked to Huntington disease in British families

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12 December 2020

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

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12 December 2020

Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms

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12 December 2020

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure

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12 December 2020

Use of R-loop mapping for the assessment of human collagen mutations

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12 December 2020

c-src is consistently conserved in the chromosomal deletion (20q) observed in myeloid disorders

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12 December 2020

Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19

1 reference

12 December 2020

Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation

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12 December 2020

Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

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12 December 2020

Diagnosis of genetic disease using recombinant DNA.

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12 December 2020

Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family

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12 December 2020

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

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12 December 2020

Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.

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12 December 2020

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

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12 December 2020

X-linked neuropathy: gene localization with DNA probes

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12 December 2020

Linkage analyses of multiple endocrine neoplasia, type 2A (MEN-2A) with 20 DNA polymorphisms: 5% of the genome excluded

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12 December 2020

Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19

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12 December 2020

Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy

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12 December 2020

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES

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12 December 2020

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

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12 December 2020

Human gene cloning and disease analysis

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12 December 2020

Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population

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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

Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria

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12 December 2020

Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron

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12 December 2020

A new tightly linked DNA probe for myotonic dystrophy

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12 December 2020

Rearrangement and expression of T-cell antigen receptor genes in human T-lymphocyte tumor lines and normal human T-cell clones: evidence for allelic exclusion of Ti beta gene expression and preferential use of a J beta 2 gene segment

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12 December 2020

A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease

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12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

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12 December 2020

Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms

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12 December 2020

Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.

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12 December 2020

Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes

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12 December 2020

DNA "fingerprints" and segregation analysis of multiple markers in human pedigrees

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12 December 2020

DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family

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12 December 2020

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

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12 December 2020

The structure of the T cell gamma chain gene in lymphoproliferative disorders and lymphoma cell lines

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12 December 2020

Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy

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12 December 2020

A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B.

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12 December 2020

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders

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12 December 2020

Small deletions of the short arm of the Y chromosome in 46,XY females

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12 December 2020

Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B.

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12 December 2020

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

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12 December 2020

Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe

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12 December 2020

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

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12 December 2020

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

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12 December 2020

Frequent deletion and duplication of the steroid 21-hydroxylase genes

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12 December 2020

Evidence against Ha-ras-1 involvement in sporadic and familial melanoma

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12 December 2020

Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24

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12 December 2020

A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19.

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12 December 2020

Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP.

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12 December 2020

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

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12 December 2020

Localization of cloned unique DNA to three different regions of chromosome 19: screen for linkage probes for myotonic dystrophy

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12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria

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12 December 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

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12 December 2020

Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.

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12 December 2020

Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.

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12 December 2020

Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes

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12 December 2020

Rearrangement of the beta chain of the T cell antigen receptor and immunoglobulin genes in lymphoproliferative disorders

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12 December 2020

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

1 reference

12 December 2020

Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family

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12 December 2020

Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia

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12 December 2020

Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12

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12 December 2020

Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence

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12 December 2020

Characterization of the supernumerary chromosome in cat eye syndrome

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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

Embryonic zeta-globin chains in adults: a marker for alpha-thalassemia-1 haplotype due to a greater than 17.5-kb deletion

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12 December 2020

Prenatal diagnosis using DNA probes in twins at risk for Duchenne muscular dystrophy

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12 December 2020

The spectrum of beta-thalassemia genes in China and Southeast Asia

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12 December 2020

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22

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12 December 2020

The screening of Duchenne muscular dystrophy patients for submicroscopic deletions.

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12 December 2020

DNA linkage analysis of X chromosome-linked chronic granulomatous disease

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12 December 2020

Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA

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12 December 2020

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

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12 December 2020

Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome)

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12 December 2020

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene

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12 December 2020

Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy

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12 December 2020

Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis

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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

Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II

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12 December 2020

Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers

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12 December 2020

Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation

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12 December 2020

Immunoglobulin gene rearrangements and expression in diffuse histiocytic lymphomas reveal cellular lineage, molecular defects, and sites of chromosomal translocation

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12 December 2020

Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity

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12 December 2020

Gamma delta beta-thalassaemias 1 and 2 are the result of a 100 kbp deletion in the human beta-globin cluster

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12 December 2020

Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7

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12 December 2020

A register based system for gene tracking in Duchenne muscular dystrophy

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12 December 2020

Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

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12 December 2020

Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis

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12 December 2020

Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion

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12 December 2020

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

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12 December 2020

Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry.

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12 December 2020

Prenatal diagnosis of Duchenne muscular dystrophy based on Xp21.2 deletion

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12 December 2020

Application of an intragenic genomic probe to genetic counselling for haemophilia B in the west of Scotland

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12 December 2020

Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis

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12 December 2020

Assignment of the gene for dyskeratosis congenita to Xq28

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12 December 2020

Identifiers

DOI

10.1007/BF00284717

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13 September 2017

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PubMed ID

3305309