X Chromosome

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  Subject Areas on Research

  • 2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes. 
  • A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. 
  • A BstE II RFLP at the DXS153 locus. 
  • A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 
  • A Rsal RFLP at the DXS467 locus. 
  • A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization. 
  • A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 
  • A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. 
  • A first-generation X-inactivation profile of the human X chromosome. 
  • A gammaGT-AT1A receptor transgene protects renal cortical structure in AT1 receptor-deficient mice. 
  • A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. 
  • A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. 
  • A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes. 
  • A microarray analysis of the XX Wnt4 mutant gonad targeted at the identification of genes involved in testis vascular differentiation. 
  • A microarray analysis of the XX Wnt4 mutant gonad targeted at the identification of genes involved in testis vascular differentiation. 
  • A new resource for characterizing X-linked genes in Drosophila melanogaster: systematic coverage and subdivision of the X chromosome with nested, Y-linked duplications. 
  • A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome. 
  • A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. 
  • A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci. 
  • A primary genetic map of the pericentromeric region of the human X chromosome. 
  • A sensitive and dependable assay for distinguishing hamster and human X-linked steroid sulfatase activity in somatic cell hybrids. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • Abnormal parathyroid function in the X-linked hypophosphatemic mouse. 
  • Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphatemic mouse. 
  • Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia. 
  • Aggressive fibromatosis (desmoid tumor) is a monoclonal disorder. 
  • Alpha-amanitin-resistant D. melanogaster with an altered RNA polymerase II. 
  • Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. 
  • An 18-locus linkage map of the pericentromeric region of the human X chromosome: genetic framework for mapping X-linked disorders. 
  • An N-ethyl-N-nitrosourea mutagenesis screen for epigenetic mutations in the mouse. 
  • An X-linked DraI RFLP recognized by cpX23 [DXS132]. 
  • An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 
  • An anonymous single-copy X-chromosome RFLP for DXS72 from Xq13-Xq22 [HGM8 provisional no. DXS72]. 
  • An integrated YAC map of the human X chromosome. 
  • Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. 
  • Arrested rearrangement of TCR V beta genes in thymocytes from children with X-linked severe combined immunodeficiency disease. 
  • Assessing inheritance of agammaglobulinemia. 
  • Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. 
  • Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. 
  • Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. 
  • Atypical X-linked agammaglobulinemia. 
  • Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene. 
  • Bacillus species infection of the skin as a presentation of severe combined immunodeficiency disease. 
  • Barring gene expression after XIST: maintaining facultative heterochromatin on the inactive X. 
  • Calcitonin stimulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in hypophosphatemic mice. Evidence that the regulation of calcitriol production is not universally abnormal in X-linked hypophosphatemia. 
  • Chromatin conformation and transcriptional activity are permissive regulators of DNA replication initiation in Drosophila. 
  • Chromosomal distribution of the major insert in Drosophila melanogaster 28S rRNA genes. 
  • Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and human. 
  • Chromosomal localization of human glutamate receptor genes. 
  • Chromosome manipulation: a systematic approach toward understanding human chromosome structure and function. 
  • Chromosome segregation. Programmed to stay together. 
  • Chromosome-specific subsets of human alpha satellite DNA: analysis of sequence divergence within and between chromosomal subsets and evidence for an ancestral pentameric repeat. 
  • Cloning of human androgen receptor complementary DNA and localization to the X chromosome. 
  • Cloning of the X-linked glycerol kinase gene. 
  • Cloning, characterization, and genetic mapping of the rat type 2 angiotensin II receptor gene. 
  • Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. 
  • Comparison of direct and indirect methods of carrier detection in an X-linked disease. 
  • Consequences of recombination rate variation on quantitative trait locus mapping studies. Simulations based on the Drosophila melanogaster genome. 
  • Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee. 
  • Consistent long-range linkage disequilibrium generated by admixture in a Bantu-Semitic hybrid population. 
  • Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. 
  • Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig. 
  • Cross-species amplification, non-invasive genotyping, and non-Mendelian inheritance of human STRPs in Savannah baboons. 
  • Crosstransplantation of kidneys in normal and Hyp mice. Evidence that the Hyp mouse phenotype is unrelated to an intrinsic renal defect. 
  • DNA replication and transcription programs respond to the same chromatin cues. 
  • DNA topoisomerase I is essential in Drosophila melanogaster. 
  • Defective natural killing activity but retention of lymphocyte-mediated antibody-dependent cellular cytotoxicity in patients with the X-linked lymphoproliferative syndrome. 
  • Delayed onset of infectious mononucleosis associated with acquired agammaglobulinemia and red cell aplasia. 
  • Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. 
  • Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal. 
  • Desert Hedgehog/Patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis. 
  • Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 
  • Detection of pericentric inversion of X chromosome in a male fetus. 
  • Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps. 
  • Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers. 
  • Differential replication of ribosomal gene repeats in polytene nuclei of Drosophila. 
  • Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus. 
  • Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. 
  • Divergent vascular mechanisms downstream of Sry establish the arterial system in the XY gonad. 
  • Duplicated zinc finger protein genes on the proximal short arm of the human X chromosome: isolation, characterization and X-inactivation studies. 
  • Effect os xid on anti-DNA B-cell precursors. 
  • Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia. 
  • Electrophysiological findings in X-linked myopathy with excessive autophagy. 
  • Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal. 
  • Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome. 
  • Epigenetic and chromosomal control of gene expression: molecular and genetic analysis of X chromosome inactivation. 
  • Epistasis modifies the dominance of loci causing hybrid male sterility in the Drosophila pseudoobscura species group. 
  • Epstein-Barr virus as an etiological agent in the pathogenesis of lymphoproliferative and aproliferative diseases in immune deficient patients. 
  • Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse. 
  • Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation. 
  • Evolution of fungal sex chromosomes. 
  • Evolutionary conservation of possible functional domains of the human and murine XIST genes. 
  • Examination of factors associated with instability of the FMR1 CGG repeat. 
  • Expression in aneuploid Drosophila S2 cells. 
  • Expression of Mls determinants in mice exhibiting the severe combined immunodeficiency (scid) mutation or X-linked immunodeficiency (xid) defect. 
  • Expression of genes from the human active and inactive X chromosomes. 
  • Expression of the gene defect in X-linked agammaglobulinemia. 
  • Expression-based assay of an X-linked gene to examine effects of the X-controlling element (Xce) locus. 
  • Extreme selective sweeps independently targeted the X chromosomes of the great apes. 
  • Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. 
  • Familial inheritance of a DXS164 deletion mutation from a heterozygous female. 
  • Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. 
  • Fine-scale crossover rate heterogeneity in Drosophila pseudoobscura. 
  • Five polymorphic microsatellite VNTRs on the human X chromosome. 
  • Flanking markers define the X-linked hypophosphatemic rickets gene locus. 
  • Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. 
  • Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. 
  • Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes. 
  • Genetic and biochemical characterization of mutants at an RNA polymerase II locus in D. melanogaster. 
  • Genetic control of X chromosome inactivation in mice: definition of the Xce candidate interval. 
  • Genetic evidence for different male and female roles during cultural transitions in the British Isles. 
  • Genetic studies: look no further than your own backyard. 
  • Genetics. Origin of species in overdrive. 
  • Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. 
  • Genome-wide architecture of reproductive isolation in a naturally occurring hybrid zone between Mus musculus musculus and M. m. domesticus. 
  • Genome-wide patterns of expression in Drosophila pure species and hybrid males. II. Examination of multiple-species hybridizations, platforms, and life cycle stages. 
  • Genomic and genetic definition of a functional human centromere. 
  • Genomic impacts of chromosomal inversions in parapatric Drosophila species. 
  • Hereditary motor and sensory neuropathies. 
  • Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. 
  • Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant. 
  • Histone variant macroH2A contains two distinct macrochromatin domains capable of directing macroH2A to the inactive X chromosome. 
  • Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. 
  • Human red cell antigens. V. Expression of In(Lu)-related p80 antigens by recessive-type Lu(a-b-) red cells. 
  • Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 
  • Human type 2 angiotensin II receptor gene: cloned, mapped to the X chromosome, and its mRNA is expressed in the human lung. 
  • Humoral immunodeficiency. 
  • Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. 
  • IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. 
  • Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. 
  • Inherited deletion at Duchenne dystrophy locus in normal male. 
  • Inherited deletion at Duchenne dystrophy locus in normal male. 
  • Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. 
  • Isolation and characterization of a major tandem repeat family from the human X chromosome. 
  • Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. 
  • Isolation and characterization of cloned human DNA fragments carrying reiterated sequences common to both autosomes and the X chromosome. 
  • Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region. 
  • Linkage analysis of 153 prostate cancer families over a 30-cM region containing the putative susceptibility locus HPCX. 
  • Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. 
  • Linkage localization of X-linked Charcot-Marie-Tooth disease. 
  • Linkage mapping of the angiotensin AT2 receptor gene (Agtr2) to the mouse X chromosome. 
  • Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction. 
  • Localization and characterization of X chromosome inversion breakpoints separating Drosophila mojavensis and Drosophila arizonae. 
  • Localization of a gene that escapes inactivation to the X chromosome proximal short arm: implications for X inactivation. 
  • Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. 
  • Loss of heterozygosity at chromosome segment Xq25-26.1 in advanced human ovarian carcinomas. 
  • MSP RFLP for X-linked proteolipid protein gene (PLP) identified with either rat or human PLP cDNA clone. 
  • Magnification of the ribosomal genes in female Drosophila melanogaster. 
  • Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. 
  • Mapping of loci and translocation breakpoints in Xq13: isolation of a conserved locus that maps close to CCG1 in human and mouse. 
  • Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST. 
  • Mapping of within-species segregation distortion in Drosophila persimilis and hybrid sterility between D. persimilis and D. pseudoobscura. 
  • Meiotic mutants that cause a polar decrease in recombination on the X chromosome in Caenorhabditis elegans. 
  • Mining copper transport genes. 
  • Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. 
  • Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. 
  • Molecular characterization of isochromosomes of Xq. 
  • Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. 
  • Molecular determinants of sexual differentiation. 
  • Molecular evolution of X-linked accessory gland proteins in Drosophila pseudoobscura. 
  • MspI RFLP detected with chromosome-walk clone pXUT23-SE3.2L from DXS16 in Xp22.1-22.3. 
  • Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq). 
  • Multiple gamma c-dependent cytokines regulate T-cell development. 
  • Mutant alleles of the meiotic locus, mei-9, differ in degree of effects on rod chromosome magnification and ring chromosome transmission in Drosophila. 
  • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 
  • Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. 
  • Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 
  • Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. 
  • Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome. 
  • New bedfellows in the mammalian sex-determination affair. 
  • Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect. 
  • Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. 
  • On ribosomal gene compensation in Drosophila. 
  • One tissue, two fates: molecular genetic events that underlie testis versus ovary development. 
  • Optical cross-sectional imaging of the macula with the retinal thickness analyzer in X-linked retinoschisis. 
  • Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm. 
  • PCR amplification of chromosome-specific alpha satellite DNA: definition of centromeric STS markers and polymorphic analysis. 
  • PCR amplification of tandemly repeated DNA: analysis of intra- and interchromosomal sequence variation and homologous unequal crossing-over in human alpha satellite DNA. 
  • Parathyroid hormone effects on serum 1,25-dihydroxyvitamin D levels in patients with X-linked hypophosphatemic rickets: evidence for abnormal 25-hydroxyvitamin D-1-hydroxylase activity. 
  • Patients with Fabry disease on dialysis in the United States. 
  • Patterns of intra- and interarray sequence variation in alpha satellite from the human X chromosome: evidence for short-range homogenization of tandemly repeated DNA sequences. 
  • Pdgfr-alpha mediates testis cord organization and fetal Leydig cell development in the XY gonad. 
  • Pericentromeric structure of human X "isochromosomes": evidence for molecular heterogeneity. 
  • Peritubular myoid cells are not the migrating population required for testis cord formation in the XY gonad. 
  • Physical and genetic mapping of the human X chromosome centromere: repression of recombination. 
  • Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. 
  • Polytenization of the ribosomal genes on the X and Y chromosomes of Drosophila melanogaster. 
  • Population genetic structure of variable drug response. 
  • Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. 
  • Prenatal diagnosis and genetic analysis of X chromosome polysomy 49, XXXXY. 
  • Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18. 
  • Pulsed-field gel analysis of alpha-satellite DNA at the human X chromosome centromere: high-frequency polymorphisms and array size estimate. 
  • Pulsed-field map of Xq13 in the region of the human X inactivation center. 
  • RFLPs of the gene for the human glycine receptor on the X-chromosome. 
  • Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. 
  • Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. 
  • Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. 
  • Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20. 
  • Replication timing of DNA sequences associated with human centromeres and telomeres. 
  • Report of the X chromosome workshop. 
  • Reproductive Mode and the Evolution of Genome Size and Structure in Caenorhabditis Nematodes. 
  • SHAPE reveals transcript-wide interactions, complex structural domains, and protein interactions across the Xist lncRNA in living cells. 
  • Second-site noncomplementation identifies genomic regions required for Drosophila nonmuscle myosin function during morphogenesis. 
  • Separation of meiotic and mitotic effects of claret non-disjunctional on chromosome segregation in Drosophila. 
  • Sequence signatures of a recent chromosomal rearrangement in Drosophila mojavensis. 
  • Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes. 
  • Serum 1,25-dihydroxyvitamin D levels in subjects with X-linked hypophosphatemic rickets and osteomalacia. 
  • Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers. 
  • Sex and the circuitry: progress toward a systems-level understanding of vertebrate sex determination. 
  • Single-target molecule detection with nonbleaching multicolor optical immunolabels. 
  • Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations. 
  • Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations. 
  • Stable dicentric X chromosomes with two functional centromeres. 
  • Studying recombination with high-throughput sequencing: an educational primer for use with "fine-scale heterogeneity in crossover rate in the garnet-scalloped region of the Drosophila melanogaster X chromosome". 
  • Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. 
  • Symptomatic giardiasis in three patients with X-linked agammaglobulinemia. 
  • Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse. 
  • Temporal Stability of Molecular Diversity Measures in Natural Populations of Drosophila pseudoobscura and Drosophila persimilis. 
  • The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene. 
  • The DXS423E gene in Xp11.21 escapes X chromosome inactivation. 
  • The PIG-A mutation and absence of glycosylphosphatidylinositol-linked proteins do not confer resistance to apoptosis in paroxysmal nocturnal hemoglobinuria. 
  • The X chromosome and the female survival advantage: an example of the intersection between genetics, epidemiology and demography. 
  • The battle of the sexes: opposing pathways in sex determination. 
  • The concurrence of hypoparathyroidism provides new insights to the pathophysiology of X-linked hypophosphatemic rickets. 
  • The efficacy of vitamin D2 and oral phosphorus therapy in X-linked hypophosphatemic rickets and osteomalacia. 
  • The genome of the green anole lizard and a comparative analysis with birds and mammals. 
  • The human X-inactivation centre is not required for maintenance of X-chromosome inactivation. 
  • The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. 
  • The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. 
  • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 
  • The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. 
  • The many faces of Charcot-Marie-Tooth disease. 
  • The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. 
  • The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation. 
  • The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. 
  • The polymorphic exon 1 androgen receptor CAG repeat in men with a potential inherited predisposition to prostate cancer. 
  • The structure and function of gamma c-dependent cytokines and receptors: regulation of T lymphocyte development and homeostasis. 
  • Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene. 
  • Translocation (X;19) with involvement of the inactive X chromosome in oligoblastic granulocytic leukemia. 
  • Translocation of Y-linked genes to the dot chromosome in Drosophila pseudoobscura. 
  • Turner phenotype in mother and daughter. 
  • Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 
  • Ultrastructural study of Norrie's disease. 
  • Update on the molecular genetics of Duchenne muscular dystrophy. 
  • Using comparative genomic data to test for fast-X evolution. 
  • Variability in B cell maturation and differentiation in X-linked agammaglobulinemia. 
  • When you hear hoof beats...do not forget the zebras. 
  • Why is female sex an independent predictor of shortened overall survival after proton/photon radiation therapy for skull base chordomas? 
  • X chromosome defects as an etiology of recurrent spontaneous abortion. 
  • X chromosome inactivation and X-linked mental retardation. 
  • X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. 
  • X inactivation of the FMR1 fragile X mental retardation gene. 
  • X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. 
  • X-chromosome hyperactivation in mammals via nonlinear relationships between chromatin states and transcription. 
  • X-linked genetic factors regulate hematopoietic stem-cell kinetics in females. 
  • X-linked hypophosphatemic rickets without "rickets". 
  • X-linked malformations of neuronal migration. 
  • X-linked neuropathy: gene localization with DNA probes. 
  • X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. 
  • XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure. 
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  Keywords of People

  • Bennett, Vann, George B. Geller Professor for Research in Molecular Biology in the School of Medicine, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Professor of Pediatrics, in the School of Medicine, Immunology
  • Yildirim, Eda, Assistant Professor of Cell Biology, Cell Biology