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One or more keywords matched the following items that are connected to Morton, Cynthia
Item TypeName
Academic Article The protein tyrosine phosphatase epsilon gene maps to mouse chromosome 7 and human chromosome 10q26.
Academic Article A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2.
Academic Article The human cationic amino acid transporter (ATRC1): physical and genetic mapping to 13q12-q14.
Academic Article Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9.
Academic Article Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
Academic Article Is HMGIC rearranged due to cryptic paracentric inversion of 12q in karyotypically normal uterine leiomyomas?
Academic Article A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
Academic Article Human calcium transport protein CaT1.
Academic Article HMGA2 expression in uterine leiomyomata and myometrium: quantitative analysis and tissue culture studies.
Academic Article Genomic organization, complete sequence, and chromosomal location of the gene for human eotaxin (SCYA11), an eosinophil-specific CC chemokine.
Academic Article Trisomy 5 and trisomy 7 are nonrandom aberrations in pigmented villonodular synovitis: confirmation of trisomy 7 in uncultured cells.
Academic Article Functional and molecular characterization of the human neutral solute channel aquaporin-9.
Academic Article Leiomyomata: heritability and cytogenetic studies.
Academic Article Testis-specific expression of the human MYCL2 gene.
Academic Article Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
Academic Article Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.
Academic Article Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Academic Article Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.
Academic Article Cytogenetic abnormalities in uterine myomas are associated with myoma size.
Academic Article Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects.
Academic Article ORC5L, a new member of the human origin recognition complex, is deleted in uterine leiomyomas and malignant myeloid diseases.
Academic Article Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases.
Academic Article Intravenous leiomyomatosis: molecular and cytogenetic analysis of a case.
Academic Article The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10.
Academic Article The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human.
Academic Article Isolation from cochlea of a novel human intronless gene with predominant fetal expression.
Academic Article Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome.
Academic Article Disseminated peritoneal leiomyomatosis. Clonality analysis by X chromosome inactivation and cytogenetics of a clinically benign smooth muscle proliferation.
Academic Article Report of the fourth international workshop on human chromosome 15 mapping 1997.
Academic Article Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130.
Academic Article Translocation breakpoints upstream of the HMGIC gene in uterine leiomyomata suggest dysregulation of this gene by a mechanism different from that in lipomas.
Academic Article Intravenous leiomyomatosis is characterized by a der(14)t(12;14)(q15;q24).
Academic Article STK25 is a candidate gene for pseudopseudohypoparathyroidism.
Academic Article Multicolor fluorescence in situ hybridization in clinical cytogenetic diagnostics.
Academic Article Clonal 6p21 rearrangement is restricted to the mesenchymal component of an endometrial polyp.
Academic Article Chromosomal translocation t(8;12) induces aberrant HMGIC expression in aggressive angiomyxoma of the vulva.
Academic Article Disseminated peritoneal leiomyomatosis after laparoscopic supracervical hysterectomy with characteristic molecular cytogenetic findings of uterine leiomyoma.
Academic Article Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus. A potential diagnostic tool.
Academic Article Lineage-restricted clonality in biphasic solid tumors.
Academic Article High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
Academic Article A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mapping.
Academic Article Genetics and the development of fibroids.
Academic Article Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex.
Academic Article SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases.
Academic Article Mapping and characterization of a novel human myc-like (MYCLK1) sequence.
Academic Article Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15.
Academic Article Multicolor karyotypic interpretation of a heterochromatin-associated marker chromosome in a dysmorphic girl with developmental delay.
Academic Article Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.
Academic Article Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization.
Academic Article Integration of cytogenetic landmarks into the draft sequence of the human genome.
Academic Article Impaired nonhomologous end-joining provokes soft tissue sarcomas harboring chromosomal translocations, amplifications, and deletions.
Academic Article Molecular pathogenesis of uterine smooth muscle tumors from transcriptional profiling.
Academic Article ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22).
Academic Article Assignment of the human small inducible cytokine A2 gene, SCYA2 (encoding JE or MCP-1), to 17q11.2-12: evolutionary relatedness of cytokines clustered at the same locus.
Academic Article Assignment of C1QBP encoding the C1q globular domain binding protein (gC1q-R) to human chromosome 17 band p13.3 by in situ hybridization.
Academic Article Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
Academic Article Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?
Academic Article Localization and expression of the human estrogen receptor beta gene in uterine leiomyomata.
Academic Article Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome.
Academic Article Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21.
Academic Article Clinical picture: Multicolour karyotyping.
Academic Article A newly established metastatic breast tumor cell line with integrated amplified copies of ERBB2 and double minute chromosomes.
Academic Article Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Academic Article Two inflammatory mediator cytokine genes are closely linked and variably amplified on chromosome 17q.
Academic Article Mapping and characterization of an X-linked processed gene related to MYCL1.
Academic Article Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).
Academic Article The human homologs of the raf (mil) oncogene are located on human chromosomes 3 and 4.
Academic Article RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation.
Academic Article Expression of two human skeletal calcitonin receptor isoforms cloned from a giant cell tumor of bone. The first intracellular domain modulates ligand binding and signal transduction.
Academic Article The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice.
Academic Article Warner-Lambert/Parke-Davis Award lecture. Many tumors and many genes: genetics of uterine leiomyomata.
Academic Article Novel isoform of lymphoid adaptor FYN-T-binding protein (FYB-130) interacts with SLP-76 and up-regulates interleukin 2 production.
Academic Article Cloning and expression of a murine histone deacetylase 3 (mHdac3) cDNA and mapping to a region of conserved synteny between murine chromosome 18 and human chromosome 5.
Academic Article A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis.
Academic Article Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.
Academic Article Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.
Academic Article Identification of genetically aberrant cell lineages in Wilms' tumors.
Academic Article Characterization of human and mouse cartilage oligomeric matrix protein.
Academic Article An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).
Academic Article Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Academic Article Human ARHGDIG, a GDP-dissociation inhibitor for Rho proteins: genomic structure, sequence, expression analysis, and mapping to chromosome 16p13.3.
Academic Article [Genetics of uterine leiomyomata].
Academic Article Cloning of human RTEF-1, a transcriptional enhancer factor-1-related gene preferentially expressed in skeletal muscle: evidence for an ancient multigene family.
Academic Article Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I.
Academic Article Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice.
Academic Article The del(7q) subgroup in uterine leiomyomata: genetic and biologic characteristics. Further evidence for the secondary nature of cytogenetic abnormalities in the pathobiology of uterine leiomyomata.
Academic Article The human ortholog of rhesus mannose-binding protein-A gene is an expressed pseudogene that localizes to chromosome 10.
Academic Article Using population admixture to help complete maps of the human genome.
Academic Article Genetic approaches to the study of uterine leiomyomata.
Academic Article Limitations of chromosome classification by multicolor karyotyping.
Academic Article Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors.
Academic Article Ovarian granulosa-stromal cell tumors are characterized by trisomy 12.
Academic Article Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis.
Academic Article Gene discovery in the auditory system: characterization of additional cochlear-expressed sequences.
Academic Article Reporting of diagnostic cytogenetic results.
Academic Article Disruption of neurexin 1 associated with autism spectrum disorder.
Academic Article The human phosphoglycerate kinase multigene family. HLA-associated sequences and an X-linked locus containing a processed pseudogene and its functional counterpart.
Academic Article Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.
Academic Article Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Academic Article Cytogenetic findings in pediatric adipose tumors: consistent rearrangement of chromosome 8 in lipoblastoma.
Academic Article Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease.
Academic Article Gene discovery in the auditory system using a tissue specific approach.
Academic Article Tumor-associated endothelial cells with cytogenetic abnormalities.
Academic Article A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12.
Academic Article Localization of the human angiogenin gene to chromosome band 14q11, proximal to the T cell receptor alpha/delta locus.
Academic Article Cytogenetic abnormalities in uterine leiomyomata.
Academic Article Analysis of androgen receptor DNA reveals the independent clonal origins of uterine leiomyomata and the secondary nature of cytogenetic aberrations in the development of leiomyomata.
Academic Article The cell adhesion gene PVRL3 is associated with congenital ocular defects.
Academic Article Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
Academic Article Chromosomal location of the genes encoding the leukocyte adhesion receptors LFA-1, Mac-1 and p150,95. Identification of a gene cluster involved in cell adhesion.
Academic Article Chromosome aberrations in uterine smooth muscle tumors: potential diagnostic relevance of cytogenetic instability.
Academic Article Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profilingof the t(12;14) and evidence in support of predisposing genetic heterogeneity.
Academic Article Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Academic Article Human J chain gene: chromosomal localization and associated restriction fragment length polymorphisms.
Academic Article Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada.
Academic Article HMGI(Y) expression in human uterine leiomyomata. Involvement of another high-mobility group architectural factor in a benign neoplasm.
Academic Article The thrombospondin-4 gene.
Academic Article Amplification of AML1 in childhood acute lymphoblastic leukemias.
Academic Article Mapping of genes and transcribed sequences in a gene rich 400-kb region on human chromosome 11p15.1-->p14.
Academic Article Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas.
Academic Article Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Academic Article Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.
Academic Article Genes for beta chain of human T-cell antigen receptor map to regions of chromosomal rearrangement in T cells.
Academic Article Cytogenetic evidence for a chromosome 22 tumor suppressor gene in ependymoma.
Academic Article A human gene homologous to the formin gene residing at the murine limb deformity locus: chromosomal location and RFLPs.
Academic Article Primary parauterine leiomyoma with a t(6;14)
Academic Article Consistent cytogenetic aberrations in hepatoblastoma: a common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies?
Academic Article Expression of HMGIY in three uterine leiomyomata with complex rearrangements of chromosome 6.
Academic Article Vascular defects and sensorineural deafness in a mouse model of Norrie disease.
Academic Article 1q42 approximately q44 is rarely cytogenetically involved in sporadic uterine leiomyomata.
Academic Article Mapping by chromosome sorting of several gene probes, including c-myc, to the derivative chromosomes of a 3;8 translocation associated with familial renal cancer.
Academic Article Genomic organization and chromosomal localization of the DUSP2 gene, encoding a MAP kinase phosphatase, to human 2p11.2-q11.
Academic Article Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Academic Article Genes for the tumor necrosis factors alpha and beta are linked to the human major histocompatibility complex.
Academic Article Human vitamin C (L-ascorbic acid) transporter SVCT1.
Academic Article Human corticotropin releasing hormone gene is located on the long arm of chromosome 8.
Academic Article NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Academic Article The t(10;14)(q24;q11) of T-cell acute lymphoblastic leukemia juxtaposes the delta T-cell receptor with TCL3, a conserved and activated locus at 10q24.
Academic Article Characterization of the human and rat myoadenylate deaminase genes.
Academic Article Identifying the molecular signature of the interstitial deletion 7q subgroup of uterine leiomyomata using a paired analysis.
Academic Article Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies.
Academic Article Cytogenetic evidence of clonality in a case of pigmented villonodular synovitis.
Academic Article Human immunoglobulin heavy chain genes map to a region of translocations in malignant B lymphocytes.
Academic Article Quinacrine mustard and nucleolar organizer region heteromorphisms in twins.
Academic Article Trinucleotide repeats at the rad locus. Allele distributions in NIDDM and mapping to a 3-cM region on chromosome 16q.
Academic Article Translocations in 7q22 define a critical region in uterine leiomyomata.
Academic Article The placental ribonuclease inhibitor (RNH) gene is located on chromosome subband 11p15.5.
Academic Article NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
Academic Article Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Academic Article Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Academic Article Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.
Academic Article The gene for the alpha i1 subunit of human guanine nucleotide binding protein maps near the cystic fibrosis locus.
Academic Article Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
Academic Article Human chromosome 7: DNA sequence and biology.
Academic Article Mapping of the human Blym-1 transforming gene activated in Burkitt lymphomas to chromosome 1.
Academic Article LFA-1 immunodeficiency disease. Definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells.
Academic Article The gene for the human mast cell high-affinity IgE receptor alpha chain: chromosomal localization to Iq21-q23 and RFLP analysis.
Academic Article Reporting of diagnostic cytogenetic results.
Academic Article Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Academic Article Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia.
Academic Article Human genes for insulin-like growth factors I and II and epidermal growth factor are located on 12q22----q24.1, 11p15, and 4q25----q27, respectively.
Academic Article Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells.
Academic Article The kappa-deleting element. Germline and rearranged, duplicated and dispersed forms.
Academic Article Human gamma-chain genes are rearranged in leukaemic T cells and map to the short arm of chromosome 7.
Academic Article Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner.
Academic Article Complex cytogenetic aberrations in a well-differentiated chondrosarcoma.
Academic Article Localization of gelsolin proximal to ABL on chromosome 9.
Academic Article Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Academic Article Localization of the beta-globin gene by chromosomal in situ hybridization.
Academic Article Molecular genetic approaches to human diseases involving mental retardation.
Academic Article Structural genomic variation and personalized medicine.
Academic Article Isolation and chromosomal localization of the human endothelial nitric oxide synthase (NOS3) gene.
Academic Article A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32.
Academic Article Reporting of diagnostic cytogenetic results.
Academic Article Platelet-derived growth factor A chain: gene structure, chromosomal location, and basis for alternative mRNA splicing.
Academic Article Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse chromosome 2 and human chromosome 9q33.
Academic Article Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders.
Academic Article Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF.
Academic Article Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay.
Academic Article Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.
Academic Article Mapping of the human complement factor I gene to 4q25.
Academic Article Perinatal lethality (ple): a mutation caused by integration of a transgene into distal mouse chromosome 15.
Academic Article Association of trisomy 8 and squamous differentiation in an endometrial adenocarcinoma.
Academic Article Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Academic Article Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization.
Academic Article Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains.
Academic Article Structure and chromosomal assignment of the human cathepsin K gene.
Academic Article Molecular characterization of a 17q11.2 translocation in a malignant schwannoma cell line.
Academic Article Dysregulation of HMGIC in a uterine lipoleiomyoma with a complex rearrangement including chromosomes 7, 12, and 14.
Academic Article Genomic structure, functional comparison, and tissue distribution of mouse Cd59a and Cd59b.
Academic Article Regional localization of the human G protein alpha i2 (GNAI2) gene: assignment to 3p21 and a related sequence (GNAI2L) to 12p12-p13.
Academic Article Uterine leiomyomata with deletions of Ip represent a distinct cytogenetic subgroup associated with unusual histologic features.
Academic Article Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
Academic Article Detection and localization of an extra HLA locus in a karyotypically normal male by chromosomal in situ hybridization.
Academic Article Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization.
Concept Chromosome Breakpoints
Concept Chromosomes, Human, Pair 7
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 10
Concept Chromosome Inversion
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 20
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 4
Concept Chromosomes, Human, Pair 5
Concept Chromosome Banding
Concept Chromosome Breakage
Concept Chromosomes, Human, Pair 21
Concept Chromosomes, Human, Pair 8
Concept Chromosome Painting
Concept Chromosome Mapping
Concept Chromosomes, Human, Pair 2
Concept X Chromosome
Concept Chromosomes, Human, Pair 13
Concept Chromosomes, Human, Pair 9
Concept Chromosomes, Human, Pair 6
Concept Chromosomes, Human, Pair 18
Concept Chromosomes, Human, Pair 12
Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, Pair 16
Concept Chromosome Fragile Sites
Concept Chromosome Disorders
Concept Chromosomes, Human, Pair 22
Concept Chromosomes, Human, Pair 17
Academic Article Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
Academic Article Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
Academic Article X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.
Academic Article Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.
Academic Article Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.
Academic Article Reporting of Diagnostic Cytogenetic Results.
Academic Article Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.
Academic Article Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.
Grant CLONING GENES INVOLVED IN HEARING
Grant MOLECULAR AND CYTOGENETIC STUDIES OF UTERINE LEIOMYOMATA
Grant Genetic Studies of Uterine Leiomyomata
Grant MOLECULAR AND CYTOGENETIC STUDIES OF UTERINE LEIOMYOMATA
Grant Finding Genes for Uterine Fibroids
Academic Article Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Academic Article Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Academic Article The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Academic Article Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Academic Article Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.
Academic Article 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.
Academic Article Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.
Academic Article Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.
Academic Article Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Academic Article Historical and Clinical Perspectives on Chromosomal Translocations.
Academic Article Computational Prediction of Position Effects of Human Chromosome Rearrangements.
Academic Article The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.
Academic Article Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Academic Article SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
Academic Article Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
Search Criteria
  • Chromosomes Human Pair 9
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.