Structural anomalies of the X chromosome and inactivation center

No abstract is available for this paper.

• Publication year

  1981

• Venue

  Human Genetics

• Publication date

  1981-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF00274702PMID 7239523
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Reappraisal of a 46,X,i(Xp) karyotype as 46,X,del(Xg).

  2009cited by this paper
• Dicentric human X chromosomes.

  2009cited by this paper
• Cytogenetic studies in seven individuals with an i(Xq) karyotype.

  2009cited by this paper
• Deletion mapping of the human X chromosome.

  2009cited by this paper
• Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis

  2004cited by this paper
• Position of the human X inactivation center on Xq

  2004cited by this paper
• Nonsurgical diagnosis and management of puerperal ovarian vein thrombophlebitis.

  1979cited by this paper
• X short arm deletion in a female subject with spontaneous sexual development.

  1979cited by this paper
• A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea

  1979cited by this paper
• Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesis

  1979cited by this paper
• A case of partial trisomy 17 resulting from X-autosomal translocation.

  1979cited by this paper
• Spreading of inactivation in an (X;14) translocation.

  1978cited by this paper
• A dynamic study in two new cases of X chromosome translocations

  1978cited by this paper
• Follow-up on a human X-autosome translocation first studied in 1963 and 1964.

  1978cited by this paper
• X-inactivation pattern in three cases of X/autosome translocation.

  1978cited by this paper
• Number of C-bands of human isochromosome Xqi and relation to 45,X mosaicism

  1978cited by this paper
• Structural aberrations of the X chromosome in man

  1978cited by this paper
• Turner syndrome with rare karyotypes

  1978cited by this paper
• X-X translocation in a patient with gonadal dysgenesis and the problem of phenotype-karyotype correlations

  1978cited by this paper
• [X chromosome with deletion of the long arm].

  1977cited by this paper
• [Identification of a dicentric isochromosome (X dic qi) in a case of gonadal dysgenesis].

  1977cited by this paper
• Replication pattern of the X chromosomes in three X/autosomal translocations.

  1977cited by this paper
• Cytological findings of 10 cases with i(Xq) and one with dic(X)(qter leads to cen leads to p22::p11 leads to qter).

  1977cited by this paper
• A case of 46,X,t(X;X)(pter to q27::q27 to pter)/47,X,t(X;X) (pter to q27::q27 to pter), + mar/48,XX,t(X;X)(pter to q27::q27 to pter), + mar and a functionally monocentric translocation X.

  1977cited by this paper
• [Trisomy 4q26--4qter by t(4;18)(q26;q23)mat translocation].

  1977cited by this paper
• Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation.

  1977cited by this paper
• A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter→p22::p22→qter))

  1977cited by this paper
• Presumptive evidence of two active X chromosomes in somatic cells of a human female

  1977cited by this paper
• Short-arm deletion of an X chromosome (45,XO/46,XX p-)

  1977cited by this paper
• Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

  1977cited by this paper
• Identification of a dicentric isochromosome (X dic qi) in a case of gonadal dysgenesis

  1977cited by this paper
• [Familial X-autosomal translocation t (X, 2)].

  1976cited by this paper
• BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes

  1976cited by this paper
• Fusion of two apparently intact human X chromosomes

  1976cited by this paper
• Dicentric X isochromosomes in man.

  1976cited by this paper
• Chromosomal and clinical findings in 110 females with Turner syndrome

  1976cited by this paper
• Short arm deletion of an X chromosome, 46,XXp-

  1976cited by this paper
• Center for Barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter leads to p22::p22 leads to qter).

  1976cited by this paper
• Isochromosome X in man: Different DNA replication patterns in the long arms

  1976cited by this paper
• [Familial X-autosomal translocation t (X, 2)].

  1976cited by this paper
• X‐short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp‐;16p+)

  1976cited by this paper
• Dicentric X‐isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis

  1975cited by this paper
• Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.

  1975cited by this paper
• Isochromosome for the short arm of X: A human mosaic 45,X/46,XXpi

  1975cited by this paper
• Differences in human X isochromosomes.

  1975cited by this paper
• [A second example of telomeric fusion 2 X chromosomes].

  1975cited by this paper
• [Late replication and X-autosome traslocation a case with banding patterns autoradiographic and B.U.D.R. studies (author's transl)].

  1975cited by this paper
• Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq)

  1975cited by this paper
• Apparently isodicentric but functionally monocentric X chromosome in man.

  1974cited by this paper
• Letter: A case of primary amenorrhea associated with X-autosomal translocation (46,X,t(Xq minus;5q plus)).

  1974cited by this paper
• Letter: X long-arm deletion with features of Turner's syndrome.

  1974cited by this paper
• X-autosome translocation in normal mother and effectively 21-monosomic daughter.

  1974cited by this paper
• X LONG-ARM DELETION WITH FEATURES OF TURNER'S SYNDROME

  1974cited by this paper
• Center for Barr body condensation on the proximal part of the human Xq: a hypothesis

  1974cited by this paper
• X/X translocation in a patient with Turner's syndrome

  1973cited by this paper
• Fluorescence and Autoradiographic Studies in Patients with Turner's Syndrome and 46,XXp— and 46,XXq— Karyotypes

  1973cited by this paper
• Isochromosome for the short arm of X with primary amenorrhoea and a pituitary tumour.

  1973cited by this paper
• Two human X-autosome translocations identified by autoradiography and fluorescence.

  1972cited by this paper
• CHROMOSOME STUDIES IN 30 CHILDREN WITH TURNER'S SYNDROME

  1972cited by this paper
• An abnormal large human chromosome identified as an end‐to‐end fusion of two X's by combined results of the new banding techniques and microdensitometry

  1972cited by this paper
• Abnormalities of human sex chromosomes. II. Turner's syndrome associated with the mosaicism 45,X-46, XX-p.

  1971cited by this paper
• Multiple abnormalities due to possible genetic inactivation in an X-autosome translocation.

  1971cited by this paper
• Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.

  1971cited by this paper
• An inhertited X‐autosome translocation in man

  1971cited by this paper
• Genetic and clinical considerations of long-arm deletion of the X chromosome.

  1970cited by this paper
• GONADAL DYSGENESIS WITH LYMPHOCYTIC THYROIDITIS AND DELETION OF THE LONG ARM OF THE X CHROMOSOME

  1969cited by this paper
• Gonadal dysgenesis in phenotypic female subjects. A review of eighty-seven cases, with cytogenetic studies in fifty-three.

  1968cited by this paper
• Morphologisch abnorme X-Chromosomen

  1967cited by this paper
• Apparent deletion of X chromosome in a prepuberal girl.

  1966cited by this paper
• Partial deletion of an X chromosome

  1965cited by this paper
• Gonadal Dysgenesis with Deleted X Chromosome

  1965cited by this paper
• Cytogenetic studies in primary amenorrhoea.

  1961cited by this paper

• XIST RNA paints the inactive X chromosome at interphase: XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome evidence for a novel RNA involved in nuclear/chromosome structure structure

  2022cites this paper
• Mechanisms of Choice in X-Chromosome Inactivation

  2022cites this paper
• Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy

  2016cites this paper
• INÍCIO E MANUTENÇÃO DA INATIVAÇÃO DO CROMOSSOMO X EM CÉLULAS HUMANAS

  2012cites this paper
• Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature

  2010influential citation
• Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array‐comparative genomic hybridization

  2009cites this paper
• Regulation of somatosensory cortex development downstream of glutamate

  2009cites this paper
• Genetic Association of the Tenomodulin Gene (TNMD) with

  2009cites this paper
• X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.

  2006cites this paper
• A HUMAN POPULATION STUDY OF THE GENETIC CONTROL OF X-INACTIVATION

  2005cites this paper
• Nonspecific X-linked mental retardation—A review

  2004cites this paper
• Interstitial deletion in the “critical region” of the long arm of the X chromosome in a mentally retarded boy and his normal mother

  2004cites this paper
• Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center

  2004cites this paper
• Allele-specific underacetylation of histone H4 downstream from promoters is associated with X-inactivation in human cells

  2004cites this paper
• X-linked mental retardation with the fragile X. A study of 15 families

  2004cites this paper
• X-Autosome translocations: Cytogenetic characteristics and their consequences

  2004cites this paper
• A familial X-autosome translocation with the breakpoint in the “critical region”

  2004cites this paper
• The behavior of sex chromosomes in two human X-autosome translocations: failure of extensive X-inactivation spreading.

  2001cites this paper
• Ovarian stimulation in a woman with premature ovarian failure and X-autosome translocation. A case report.

  2000cites this paper
• Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.

  1999cites this paper
• Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation.

  1998cites this paper
• Xist and X chromosome inactivation.

  1998cites this paper
• The spreading of X inactivation into autosomal material of an x;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA.

  1998cites this paper
• Phosphomannose Isomerase Deficiency : A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation

  1998cites this paper
• Structural Association of XIST RNA with Inactive Chromosomes in Somatic Cells : a Key Step in the Process that Establishes and Faithfully Maintains X-inactivation

  1998cites this paper
• Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human

  1998cites this paper
• Deletion/inversion in the X-chromosome and increased telomeric associations in a female with primary amenorrhea

  1997cites this paper
• Genetics of Oocyte Depletion

  1997cites this paper
• Determinación sexual y compensación de dosis génica en drosophila, caenorhabditis y mamíferos: aspectos comparativos

  1997cites this paper
• XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure

  1996cites this paper
• X chromosome inactivation and X-linked mental retardation.

  1996cites this paper
• Heritability of X chromosome--inactivation phenotype in a large family.

  1996cites this paper
• Evidence that heteronuclear proteins interact with the XIST RNA in vitro

  1996cites this paper
• DNA hypomethylation can activate Xist expression and silence X-linked genes.

  1996cites this paper
• A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.

  1994cites this paper
• X chromosome inactivation and the Xist gene.

  1994cites this paper
• Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia.

  1994cites this paper
• X-chromosome inactivation: molecular mechanisms and genetic consequences.

  1994cites this paper
• Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation.

  1994cites this paper
• The human X-inactivation centre is not required for maintenance of X-chromosome inactivation

  1994cites this paper
• [X chromosome inactivation in mammals].

  1994cites this paper
• Molecular and Genetic Studies of Human X Chromosome Inactivation

  1993cites this paper
• Abnormal Human Sex Chromosome Constitutions

  1993cites this paper
• Nuclear Structure Studied by Fluorescence Hybridization: Visualization of Individual Gene Transcription and RNA Splicing: A Thesis

  1993cites this paper
• Functional Structure of the Human X Chromosome

  1993cites this paper
• Human Chromosomes

  1993cites this paper
• Epigenetic and chromosomal control of gene expression: molecular and genetic analysis of X chromosome inactivation.

  1993cites this paper
• The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression.

  1993cites this paper
• Pulsed-field map of Xq13 in the region of the human X inactivation center.

  1993cites this paper
• Physical mapping of an Xq-proximal interstitial duplication in a male

  1992cites this paper
• Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene

  1992cites this paper
• The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus.

  1992cites this paper
• [Structural heterochromatin and X-chromosome inactivation].

  1992cites this paper
• The X chromosome in development in mouse and man

  1992cites this paper
• Isolation of new probes from Xq12-->q13: an example of the screening of reference libraries with Alu-PCR products from radiation hybrids.

  1992cites this paper
• Isodicentric X chromosome in a patient with Turner syndrome — implications for localization of the X-inactivation center

  1991cites this paper
• A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

  1991cites this paper
• Genetic and molecular evidence of an X-chromosome deletion spanning the tabby (Ta) and testicular feminization (Tfm) loci in the mouse.

  1991cites this paper
• Localization of the X inactivation centre on the human X chromosome in Xq13

  1991cites this paper
• Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome

  1991cites this paper
• X marks the spot.

  1991cites this paper
• Analysis of DMD translocations

  1991influential citation
• Genetic mapping in the region of the mouse X-inactivation center.

  1990cites this paper
• The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis

  1990cites this paper
• Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome.

  1990cites this paper
• Neuropsychiatric Disturbances in a Patient with a Nonmosaic Isodicentric (X) (q21.32) Chromosome

  1990cites this paper
• Analysis of methylation and distribution of CpG sequences on human active and inactive X chromosomes by in situ nick translation

  1990cites this paper
• The search for the mouse X-chromosome inactivation centre.

  1990cites this paper
• Report of the committee on the genetic constitution of the X chromosome.

  1990cites this paper
• Report of the committee on the genetic constitution of the X chromosome.

  1989cites this paper
• Disorders of gonadal development in humans.

  1989cites this paper
• Translocation (X;19) with involvement of the inactive X chromosome in oligoblastic granulocytic leukemia.

  1988cites this paper
• Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.

  1988cites this paper
• Familial occurrence of isodicentric X chromosomes with different breakpoints

  1988cites this paper
• X-linked genetic homologies between mouse and man.

  1987cites this paper
• Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation.

  1987cites this paper
• Chromosome structure: euchromatin and heterochromatin.

  1987cites this paper
• Ovarian dysgenesis due to an idic(X)(q2803).

  1987cites this paper
• Ovarian Dysgenesis and Related Genetic Disorders

  1987cites this paper
• Metaphase chromosome folds and X-inactivation.

  1987cites this paper
• L'hybridation in situ en cytogénétique

  1986cites this paper
• Structurally Abnormal X Chromosomes

  1986cites this paper
• Muscular dystrophy in girls with X;autosome translocations.

  1986cites this paper
• Location of the X inactivation center in primates and other mammals

  1986cites this paper
• Full expression of Hunter's disease in a female with an X‐chromosome deletion leading to non‐random inactivation

  1986cites this paper
• An unusual case of X‐15 translocation: evidence for the presence of an ‘activator’ region on Xpter of Man

  1985cites this paper
• Genes and chromosomes that cause female infertility.

  1985cites this paper
• 868 A PRACTICAL METAPHASE MARKER OF THE INACTIVE X CHROMOSOME

  1985cites this paper
• [Contribution of in situ hybridization to chromosomal analysis].

  1985cites this paper
• Prader‐Willi syndrome in a child with a balanced (X;15) de novo translocation

  1984cites this paper
• Bends in human mitotic metaphase chromosomes, including a bend marking the X-inactivation center.

  1984cites this paper
• [Sex differentiation. II. Abnormalities of the sex chromosomes and changes in gonadal differentiation].

  1984cites this paper
• Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature

  1984cites this paper
• Two cases of 11p13 interstitial deletion and unusual clinical features

  1984cites this paper
• Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.

  1984cites this paper
• DNA replication and inactivation patterns in structural abnormality of sex chromosomes

  1984cites this paper
• Distribution of break points in human structural rearrangements.

  1983cites this paper
• Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns

  1983cites this paper
• X chromosome replication patterns in a case of X;9 balanced translocation.

  1983cites this paper
• [The X chromosome and X-linked genetic dermatosis].

  1983cites this paper