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Search Results to Stephen Scherer

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Item TypeName
Concept Chromosomes, Human, Pair 15
Concept X Chromosome Inactivation
Concept Chromosomes, Human, X
Concept Chromosomes, Human, Y
Concept Chromosomes, Human, Pair 12
Concept Chromosomes, Human, Pair 18
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Pair 17
Concept Chromosome Banding
Concept Chromosomes, Human
Concept Chromosome Breakage
Concept Chromosomes, Human, Pair 14
Concept Physical Chromosome Mapping
Concept Chromosomes, Human, Pair 11
Concept Chromosome Fragility
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 20
Concept Chromosomes
Concept Chromosome Duplication
Concept Chromosomes, Artificial, Yeast
Concept Chromosomes, Human, Pair 4
Concept Chromosomes, Human, Pair 5
Concept Chromosome Segregation
Concept Chromosomes, Human, Pair 21
Concept Chromosomes, Human, Pair 8
Concept Chromosome Painting
Concept Chromosome Mapping
Concept Chromosome Walking
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 10
Concept Chromosome Inversion
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 6
Concept Chromosome Breakpoints
Concept Chromosomes, Human, Pair 2
Concept X Chromosome
Concept Chromosomes, Human, Pair 13
Concept Chromosomes, Fungal
Concept Chromosomes, Human, Pair 9
Concept Chromosomes, Mammalian
Concept Chromosomes, Artificial, Bacterial
Concept Chromosome Disorders
Concept Chromosomes, Human, Pair 22
Concept Chromosome Fragile Sites
Academic Article Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.
Academic Article Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia.
Academic Article Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.
Academic Article Molecular basis for expression of common and rare fragile sites.
Academic Article Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancer.
Academic Article Characterization of the segmental duplication LCR7-20 in the human genome.
Academic Article Functional and chromosomal clustering of genes responsive to 5-bromodeoxyuridine in human cells.
Academic Article De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder.
Academic Article Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.
Academic Article Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.
Academic Article Altered expression and deletion of RMO1 in osteosarcoma.
Academic Article Expanded repeat in canine epilepsy.
Academic Article Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Academic Article Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Academic Article Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Academic Article Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.
Academic Article Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Academic Article Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
Academic Article Murine segmental duplications are hot spots for chromosome and gene evolution.
Academic Article Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
Academic Article Duplication and relocation of the functional DPY19L2 gene within low copy repeats.
Academic Article An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Academic Article Structural variants: changing the landscape of chromosomes and design of disease studies.
Academic Article Copy number variation: new insights in genome diversity.
Academic Article Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
Academic Article Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes.
Academic Article Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes.
Academic Article Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
Academic Article Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Academic Article Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
Academic Article Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Academic Article Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.
Academic Article Accurate and reliable high-throughput detection of copy number variation in the human genome.
Academic Article Global variation in copy number in the human genome.
Academic Article Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.
Academic Article Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Academic Article Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Academic Article Evolutionary implications of inversions that have caused intra-strand parity in DNA.
Academic Article Germ-line DNA copy number variation frequencies in a large North American population.
Academic Article Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Academic Article The diploid genome sequence of an individual human.
Academic Article Contribution of SHANK3 mutations to autism spectrum disorder.
Academic Article Structural variation of chromosomes in autism spectrum disorder.
Academic Article Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.
Academic Article A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Academic Article The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
Academic Article Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Academic Article Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
Academic Article Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
Academic Article Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.
Academic Article Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Academic Article Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Academic Article Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
Academic Article Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Academic Article Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
Academic Article Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.
Academic Article Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.
Academic Article Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Academic Article Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Academic Article Towards a comprehensive structural variation map of an individual human genome.
Academic Article Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Academic Article Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Academic Article 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
Academic Article Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions.
Academic Article Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.
Academic Article Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Academic Article Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Academic Article Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Academic Article Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Academic Article A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Academic Article Early-onset Lafora body disease.
Academic Article 1q21.1 Microduplication expression in adults.
Academic Article De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
Academic Article Mechanisms of formation of structural variation in a fully sequenced human genome.
Academic Article Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Academic Article Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Academic Article Autism spectrum disorder in the genetics clinic: a review.
Academic Article Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Academic Article Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Academic Article Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.
Academic Article A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes.
Academic Article A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
Academic Article Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
Academic Article Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Academic Article Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.
Academic Article Cytogenetic prognostication within medulloblastoma subgroups.
Academic Article Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.
Academic Article A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.
Academic Article Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Academic Article A high-resolution copy-number variation resource for clinical and population genetics.
Academic Article A copy number variation map of the human genome.
Academic Article 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Academic Article Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder.
Academic Article Clinically relevant copy number variations detected in cerebral palsy.
Academic Article Physical and genetic mapping of Candida albicans: several genes previously assigned to chromosome 1 map to chromosome R, the rDNA-containing linkage group.
Academic Article Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32.
Academic Article The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Academic Article Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Academic Article Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
Academic Article Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human Chromosome band 5ql4.
Academic Article Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Academic Article Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.
Academic Article Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Academic Article Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.
Academic Article A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
Academic Article Copy number variation in fetal alcohol spectrum disorder.
Academic Article Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Academic Article Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Academic Article De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Academic Article Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Academic Article Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization.
Academic Article Sequence analysis and chromosomal localization of human Cap Z. Conserved residues within the actin-binding domain may link Cap Z to gelsolin/severin and profilin protein families.
Academic Article Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene.
Academic Article Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents.
Academic Article Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.
Academic Article Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones.
Academic Article Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF/106/KO15.
Academic Article Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.
Academic Article Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.
Academic Article Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
Academic Article Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene.
Academic Article Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
Academic Article Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis.
Academic Article The ARG4 gene of Candida albicans.
Academic Article Mapping the midkine family of developmentally regulated signaling molecules.
Academic Article Induced chromosome rearrangements and morphologic variation in Candida albicans.
Academic Article Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.
Academic Article Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids.
Academic Article Physical mapping of the holoprosencephaly critical region on chromosome 7q36.
Academic Article The Ikaros gene encodes a family of lymphocyte-restricted zinc finger DNA binding proteins, highly conserved in human and mouse.
Academic Article A YAC-based contig of 1.5 Mb spanning the human multidrug resistance gene region and delineating the amplification unit in three human multidrug-resistant cell lines.
Academic Article Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia.
Academic Article Classification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH).
Academic Article Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1).
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 MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma.
Academic Article Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Academic Article Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human.
Academic Article Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
Academic Article Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q.
Academic Article Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein.
Academic Article Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Academic Article A panel of radiation hybrids defining the 7q31-q32 region of human chromosome 7.
Academic Article Detailed deletion mapping with a refined physical map of 7q31 localizes a putative tumor suppressor gene for breast cancer in the region of MET.
Academic Article Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype.
Academic Article Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.
Academic Article Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes.
Academic Article Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity.
Academic Article Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1.
Academic Article Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2).
Academic Article Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12.
Academic Article Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias.
Academic Article Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14.
Academic Article The XRCC2 DNA repair gene: identification of a positional candidate.
Academic Article Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.
Academic Article Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas.
Academic Article Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas.
Academic Article Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.
Academic Article Interleukin-1beta-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3.
Academic Article Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.
Academic Article Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6.
Academic Article The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1.
Academic Article Delineation of genomic regions in chromosome band 7q22 commonly deleted in myeloid leukemias.
Academic Article PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
Academic Article Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.
Academic Article Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
Academic Article Identification of an amplified gene cluster in glioma including two novel amplified genes isolated by exon trapping.
Academic Article Genome analysis.
Academic Article Structural organization and chromosomal localization of the human Na,K-ATPase beta 3 subunit gene and pseudogene.
Academic Article Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
Academic Article Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
Academic Article The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus.
Academic Article P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3.
Academic Article Maintenance of hypomethylation status and preferential expression of exogenous human MDR1/PGY1 gene in mouse L cells by YAC mediated transfer.
Academic Article Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1.
Academic Article Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
Academic Article Candida albicans ALS3 and insights into the nature of the ALS gene family.
Academic Article Structural characterization and mapping of the normal epithelial cell-specific 1 gene.
Academic Article Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.
Academic Article A physical map of chromosome 7 of Candida albicans.
Academic Article Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites.
Academic Article Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence.
Academic Article Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Academic Article Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.
Academic Article Clustering of human chromosome fragments on the mouse genome by chromosome-mediated gene transfer.
Academic Article Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians.
Academic Article Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24.
Academic Article Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders.
Academic Article A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Academic Article Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12.
Academic Article A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.
Academic Article The BCL7 gene family: deletion of BCL7B in Williams syndrome.
Academic Article Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.
Academic Article Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human.
Academic Article Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7.
Academic Article Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
Academic Article Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype.
Academic Article A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
Academic Article The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
Academic Article Generation and chromosome mapping of expressed sequence tags (ESTs) from a human infant thymus.
Academic Article Delineation of multiple deleted regions in 7q in myeloid disorders.
Academic Article Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
Academic Article Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage.
Academic Article Characterization of the human myeloid leukemia-derived cell line GF-D8 by multiplex fluorescence in situ hybridization, subtelomeric probes, and comparative genomic hybridization.
Academic Article Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31.
Academic Article Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene.
Academic Article Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations.
Academic Article Molecular characterization of zyme/protease M/neurosin (PRSS9), a hormonally regulated kallikrein-like serine protease.
Academic Article Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21.
Academic Article cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).
Academic Article Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24.
Academic Article X-linked vacuolar myopathies: two separate loci and refined genetic mapping.
Academic Article Localization of the human SP3 gene to chromosome 7p14-p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization.
Academic Article Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability.
Academic Article Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32.
Academic Article Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency..
Academic Article Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.
Academic Article The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1.
Academic Article Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition.
Academic Article Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kgamma.
Academic Article Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.
Academic Article A global profile of germline gene expression in C. elegans.
Academic Article Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA.
Academic Article Small GTPase Rac1: structure, localization, and expression of the human gene.
Academic Article t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia.
Academic Article Prevalence of small inversions in yeast gene order evolution.
Academic Article Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.
Academic Article Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1).
Academic Article Experimental annotation of the human genome using microarray technology.
Academic Article A physical map of the human genome.
Academic Article A high-resolution map of human chromosome 12.
Academic Article Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.
Academic Article Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
Academic Article Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.
Academic Article The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35.
Academic Article Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22.
Academic Article Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.
Academic Article Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression.
Academic Article Genetic mapping and DNA sequence-based analysis of deleted regions on chromosome 16 involved in progression of bladder cancer from occult preneoplastic conditions to invasive disease.
Academic Article A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Academic Article A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
Academic Article Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.
Academic Article Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Academic Article Mutations in SUFU predispose to medulloblastoma.
Academic Article A role for common fragile site induction in amplification of human oncogenes.
Academic Article Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.
Academic Article Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.
Academic Article The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.
Academic Article Type II gonadotropin-releasing hormone receptor transcripts in human sperm.
Academic Article A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5).
Academic Article Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
Academic Article Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.
Academic Article The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome.
Academic Article Human chromosome 7: DNA sequence and biology.
Academic Article Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Academic Article Sequencing of isolated sperm cells for direct haplotyping of a human genome.
Academic Article A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Academic Article Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Academic Article OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Academic Article Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Academic Article A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.
Academic Article Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
Academic Article Reversion of a promoter deletion in yeast.
Academic Article Pulsed-field gel electrophoresis of circular DNA.
Academic Article Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Academic Article Association between distress and knowledge among parents of autistic children.
Academic Article Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.
Academic Article Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
Academic Article The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Academic Article Genome-wide association study of emotional empathy in children.
Academic Article FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.

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