Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms.
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Genetic reconstruction of individual colorectal tumor historiesGenetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19Autism or atypical autism in maternally but not paternally derived proximal 15q duplicationLinkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north AfricaDuplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysisDiaphragmatic herniae and translocations involving 8q22 in two patients.Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree.Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproductionTriplication of 15q11-q13 with inv dup(15) in a female with developmental delay.Three patients with a 45,X/46,X,psu dic(Xp) karyotype.Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical featureMutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B familyPrevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.Allele frequencies at microsatellite loci: the stepwise mutation model revisitedA microsatellite linkage map of the porcine genomeMicrosatellite polymorphism in natural populations of the wild plant Arabidopsis thalianaAn extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosisA genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locusFurther evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity.Linkage analysis in familial Angelman syndrome.Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19.An index marker map of chromosome 9 provides strong evidence for positive interference.X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.Aetiopathology and genetic basis of neonatal diabetes.Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.Three tumor-suppressor regions on chromosome 11p identified by high-resolution deletion mapping in human non-small-cell lung cancerVariation at the hepatic lipase and apolipoprotein AI/CIII/AIV loci is a major cause of genetically determined variation in plasma HDL cholesterol levels.Multilocus genetic determinants of LDL particle size in coronary artery disease familiesCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM intervalFurther refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9)Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markersRefined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21.
P2860
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P2860
Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh-hant
name
Isolation and chromosomal assi ...... sequence repeat polymorphisms.
@en
Isolation and chromosomal assi ...... sequence repeat polymorphisms.
@nl
type
label
Isolation and chromosomal assi ...... sequence repeat polymorphisms.
@en
Isolation and chromosomal assi ...... sequence repeat polymorphisms.
@nl
prefLabel
Isolation and chromosomal assi ...... sequence repeat polymorphisms.
@en
Isolation and chromosomal assi ...... sequence repeat polymorphisms.
@nl
P2093
P1433
P1476
Isolation and chromosomal assi ...... sequence repeat polymorphisms.
@en
P2093
Dracopoli NC
Engelstein M
Housman DE
Rubenfield MJ
P304
P356
10.1016/0888-7543(92)90133-D
P577
1992-07-01T00:00:00Z