Ring Chromosomes in Human Beings

No abstract is available for this paper.

• Publication year

  1962

• Venue

  Nature

• Publication date

  1962-08-18

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/195733A0PMID 14004845
• 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.

• A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome.

  1960cited by this paper
• Chromosome preparations of leukocytes cultured from human peripheral blood.

  1960cited by this paper
• ACTION OF RADIATION ON MAMMALIAN CELLS III. RELATIONSHIP BETWEEN REPRODUCTIVE DEATH AND INDUCTION OF CHROMOSOME ANOMALIES BY X-IRRADIATION OF EUPLOID HUMAN CELLS IN VITRO.

  1958cited by this paper
• The Production of Homozygous Deficient Tissues with Mutant Characteristics by Means of the Aberrant Mitotic Behavior of Ring-Shaped Chromosomes.

  1938cited by this paper
• A Closed X Chromosome in Drosophila Melanogaster.

  1933cited by this paper

• TYMS‐ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report

  2025cites this paper
• A New Database on Constitutional Human Ring Chromosomes

  2025cites this paper
• Drosophila ring chromosomes interact with sisters and homologs to produce anaphase bridges in mitosis

  2024cites this paper
• Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms

  2024cites this paper
• Drosophila ring chromosomes interact with sisters and homologs to produce anaphase bridges in mitosis

  2024cites this paper
• The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes

  2022cites this paper
• Ring Chromosome 13, A Rare Case Report

  2020cites this paper
• R(18) Syndrome

  2016cites this paper
• Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing

  2015cites this paper
• Ring 18 molecular assessment and clinical consequences

  2015cites this paper
• Mitotic misbehavior of a Drosophila melanogaster satellite in ring chromosomes: insights into intragenomic conflict among heterochromatic sequences

  2014cites this paper
• A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach.

  2010cites this paper
• Autopsy case of a patient with 13q- syndrome.

  2010cites this paper
• Pathological observations on a male patient with D-ring chromosome.

  2010cites this paper
• Ring chromosome 21: A Case Report

  2009cites this paper
• A case of mosaic ring chromosome 13 syndrome

  2009cites this paper
• A RING CHROMOSOME IN THE 13–15 GROUP ASSOCIATED WITH MICROCEPHALIC DWARFISM, MENTAL RETARDATION AND EMOTIONAL IMMATURITY

  2009cites this paper
• RING CHROMOSOME MOSAICISM IN A SEVERELY SUBNORMAL CHILD WITH MULTIPLE CONGENITAL MALFORMATIONS.

  2008cites this paper
• Cervico-oculo-acoustic dysplasia. ("The syndrome of Wildervanck").

  2008cites this paper
• Ring chromosome 18 in mother and daughter.

  2008cites this paper
• Ring chromosome 18 in a mentally retarded boy.

  2008cites this paper
• A Case of Multiple Congenital Anomalies due to Polymorphism of Chromosome 13

  2007cites this paper
• A ring-X-chromosome in part of the somatic cells of a patient with some characteristics of the Turner syndrome

  2005cites this paper
• Defizienz am langen Arm eines Chromosoms Nr. 18 (46, XX, 18 q-)

  2004cites this paper
• Partial monosomies 18

  2004cites this paper
• Dq-, Dr and retinoblastoma

  2004cites this paper
• Multiple Mißbildungen bei einem Mädchen mit dem Karyotypus 46, XY, 17q+

  2004cites this paper
• The behavior of ring chromosome 13

  2004cites this paper
• The ring chromosome 13 syndrome

  2004cites this paper
• Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications.

  2001cites this paper
• Anencephaly with holoprosencephalic facies due to ring chromosome 18.

  1997cites this paper
• Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism.

  1994cites this paper
• Edward syndrome with multiple chromosomal defects

  1989cites this paper
• A Report of a Case of r(13) Syndrome and a Review of the Literature

  1987cites this paper
• Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations.

  1982cites this paper
• Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange.

  1982cites this paper
• Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation

  1979cites this paper
• Genetic studies on heterochromatin in Drosophila melanogaster and their implications for the functions of satellite DNA

  1978cites this paper
• [Ring chromosome 15 in a child (author's transl)].

  1978cites this paper
• A case of 46,XX,18p–/46,XX,r(18) mosaicism

  1978cites this paper
• Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome

  1978cites this paper
• Endocrine and cytogenetic studies in a patient with Turner's phenotype and a ring chromosome.

  1977cites this paper
• BIOLOGY, SPEECH, AND LANGUAGE

  1977cites this paper
• Anopthalmia and other anomalies associated with a ring chromosome No. 17 approximately 18.

  1975cites this paper
• Anopthalmia and Other Anomalies Associated with a Ring Chromosome No. 17-18

  1975cites this paper
• [A case of 18q- studied by various methods (R,G and C bands)].

  1975cites this paper
• [A case of ring chromosome E 17: 46, XX, r(17) (p13 yields q25) (author's transl)].

  1974cites this paper
• [Consequences of the effects of gene determinations].

  1974cites this paper
• Indications for chromosome studies in clinical practice.

  1973cites this paper
• Ring chromosome D (13) associated with multiple congenital malformations.

  1973cites this paper
• Malformations of kidney and urinary tract in common chromosomal aberrations

  1973cites this paper
• Malformations of kidney and urinary tract in common chromosomal aberrations

  1973cites this paper
• [Chromosome 18. Structural abnormalities. II].

  1972cites this paper
• Ring formation of chromosomes nos. 19 and 20.

  1972cites this paper
• Primary hypoparathyroidism associated with ring chromosome 18.

  1972cites this paper
• Ring-chromosom 18

  1972influential citation
• Anomalies with ring D chromosome.

  1972cites this paper
• Ring D 1 chromosome with remarkable morphological variation in a boy with mental retardation.

  1972cites this paper
• An alternative model for ring chromosome perpetuation in a human subjecgt *

  1972cites this paper
• [Ring chromosome 18. 18p-/18q- -deletion-syndrome].

  1972cites this paper
• Syndrome of multiple osseous defects with pretibial dimples.

  1971cites this paper
• [Observation of the 13-15 chromosome group in a ring (46,XY,15r)].

  1971cites this paper
• Syndrome associated with group-D chromosome deletions.

  1971cites this paper
• Ring 13 chromosome with normal haptoglobin inheritance.

  1971cites this paper
• The syndrome associated with the partial D-monosomy

  1971cites this paper
• A ring-4 chromosome in a patient with normal intelligence and short stature.

  1971cites this paper
• Etude d'une observation de chromosome du groupe 13–15 en anneau (46,XY,15r)

  1971cites this paper
• Monosomy E Mosaicism in a Stillborn Infant: A Case Report

  1971cites this paper
• Ocular and cerebral abnormalities in chromosome 18 deletion defect.

  1970cites this paper
• A Special Role of the Group 17,18 Chromosomes in Reticuloendothelial Neoplasia

  1970cites this paper
• Partial deletion of the long arm of chromosome E-18.

  1970cites this paper
• Median facial cleft associated with ring E chromosome.

  1970cites this paper
• A ring chromosome No. 16 in an infant with primary hypoparathyroidism.

  1970cites this paper
• [Ring chromosome 18].

  1970cites this paper
• Ring chromosome D (13).

  1970cites this paper
• Simultaneous occurrence of ring "G" chromosome and group "B" pericentric inversion in the same individual: case report and review of the literature.

  1970cites this paper
• Absent IgA and deletions of chromosome 18.

  1970cites this paper
• D1 ring chromosome in newborn with peculiar face, polydactyly, imperforate anus, arrhinencephaly, and other malformations.

  1970cites this paper
• [The intelligence level in the chromosome aberrations affecting autosomes].

  1970cites this paper
• Comparative behavior of ring chromosomes.

  1970cites this paper
• [Clinical diagnosis of the phenotype corresponding to a ring-shaped D chromosome].

  1970cites this paper
• Bilateral colobomas of iris and choroid. Association with partial deletion of a chromosome of group D.

  1970cites this paper
• A ring chromosome No. 16 in primary hypoparathyroidism

  1970cites this paper
• Cromosoma 18 ad anello.

  1970cites this paper
• The 13q-deletion syndrome.

  1969cites this paper
• Chromosomal abnormalities in clinical medicine.

  1969cites this paper
• Ring chromosomes in two infants with congenital malformations.

  1969cites this paper
• Autosomal imbalance and its syndromes, excluding down's.

  1969cites this paper
• Triple (45,X-46,XXr-46,XX) mosaicism in a phenotypic female.

  1969cites this paper
• A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).

  1969cites this paper
• Human Radiation Cytogenetics1

  1969cites this paper
• IgA deficiency associated with partial deletion of chromosome 18.

  1969cites this paper
• Immunological profile in a chromosome 18 deletion syndrome with IgA deficiency.

  1969cites this paper
• Retinoblastoma and deletion D (14) syndrome.

  1969cites this paper
• Multiple congenital anomalies associated with a ring-D chromosome.

  1969cites this paper
• TWO PATIENTS WITH A 46, XX, Er CHROMOSOME CONSTITUTION

  1968cites this paper
• Chromosomentranslokation bei familiär gehäufter Cyclopie

  1968cites this paper
• Gonadal hypoplasia associated with ring chromosomes. Report of 2 cases.

  1968cites this paper
• Maternal radiation and chromosomal aberrations.

  1968cites this paper
• [Chromosomal Translocation and familial cyclopia].

  1968cites this paper