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Search Results to Johanna Rommens

This is a "connection" page, showing the details of why an item matched the keywords from your search.


One or more keywords matched the following items that are connected to Rommens, Johanna

Item TypeName
Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, Pair 12
Concept Chromosomes, Human, Pair 17
Concept Chromosome Banding
Concept Chromosome Breakage
Concept Chromosomes, Human, Pair 14
Concept Physical Chromosome Mapping
Concept Chromosomes, Human, Pair 11
Concept Chromosome Fragility
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 20
Concept Chromosomes, Artificial, Yeast
Concept Chromosomes, Human, Pair 4
Concept Chromosomes, Human, Pair 5
Concept Chromosomes, Human, Pair 21
Concept Chromosome Mapping
Concept Chromosome Walking
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 10
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 6
Concept Chromosomes, Human, Pair 2
Concept X Chromosome
Concept Chromosomes, Human, Pair 13
Concept Chromosomes, Fungal
Concept Chromosome Fragile Sites
Academic Article Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Academic Article Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.
Academic Article Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.
Academic Article Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
Academic Article Identification of a novel percent mammographic density locus at 12q24.
Academic Article Genetic determination of exocrine pancreatic function in cystic fibrosis.
Academic Article Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.
Academic Article Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Academic Article Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Academic Article Molecular genetics of cystic fibrosis.
Academic Article Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis.
Academic Article Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells.
Academic Article Isolation of clones on chromosome 7 that contain recognition sites for rare-cutting enzymes by oligonucleotide hybridization.
Academic Article The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
Academic Article Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Academic Article Rapid nonradioactive detection of the major cystic fibrosis mutation.
Academic Article Chromosomal localization of the human homeo box-containing genes, EN1 and EN2.
Academic Article Identification of the cystic fibrosis gene: genetic analysis.
Academic Article DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.
Academic Article Identification of the cystic fibrosis gene: chromosome walking and jumping.
Academic Article Progress towards cloning the cystic fibrosis gene.
Academic Article Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene.
Academic Article Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21.
Academic Article Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
Academic Article A transcription map of the region containing the Huntington disease gene.
Academic Article Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms.
Academic Article Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression.
Academic Article Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex.
Academic Article The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
Academic Article Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.
Academic Article Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110).
Academic Article Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease.
Academic Article An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily.
Academic Article The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Academic Article Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
Academic Article Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human.
Academic Article Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13.
Academic Article Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
Academic Article Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region.
Academic Article Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Academic Article Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3.
Academic Article De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Academic Article Mapping of the Ras-GRF2 gene (GRF2) to mouse chromosome 13C3-D1 and human chromosome 5q13, near the Ras-GAP gene.
Academic Article Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
Academic Article The XRCC2 DNA repair gene: identification of a positional candidate.
Academic Article Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene.
Academic Article Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.
Academic Article Physical and transcription map in the region 14q24.3: identification of six novel transcripts.
Academic Article Two homologous genes causing early-onset familial Alzheimer's disease.
Academic Article A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
Academic Article Amplification of CFTR exon 9 sequences to multiple locations in the human genome.
Academic Article Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.
Academic Article Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
Academic Article Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
Academic Article Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma.
Academic Article GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene.
Academic Article Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22).
Academic Article Cloning of a new gene (FB19) within HLA class I region.
Academic Article Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human.
Academic Article A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
Academic Article Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.
Academic Article Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation.
Academic Article A candidate prostate cancer susceptibility gene at chromosome 17p.
Academic Article Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
Academic Article Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
Academic Article Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome.
Academic Article Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Academic Article Human chromosome 7: DNA sequence and biology.

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  • Chromosomes