Literature DB >> 5149537

A ring-4 chromosome in a patient with normal intelligence and short stature.

R B Surana, J D Bailey, P E Conen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1971        PMID： 5149537      PMCID： PMC1469087          DOI： 10.1136/jmg.8.4.517

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  9 in total

1.  Ring chromosomes in human beings.

Authors:  H C WANG; J MELNYK; L T McDONALD; I A UCHIDA; D H CARR; B GOLDBERG
Journal:  Nature       Date:  1962-08-18       Impact factor: 49.962

2.  Chromosome abnormalities in two cases with bilateral radial element defects.

Authors:  M Faed; A Stewart; A J Keay
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

3.  Comparative behavior of ring chromosomes.

Authors:  M L Kistenmacher; H H Punnett
Journal:  Am J Hum Genet       Date:  1970-05       Impact factor: 11.025

4.  Short-arm deletion, chromosome 4, (4p-), a syndrome?

Authors:  A I Taylor; D N Challacombe; R M Howlett
Journal:  Ann Hum Genet       Date:  1970-10       Impact factor: 1.670

5.  Partial deletion of the short arm of chromosome no. 4(4p-): clinical studies in five unrelated patients.

Authors:  O J Miller; W R Breg; D Warburton; D A Miller; A DeCapoa; P W Allderdice; J Davis; H P Klinger; E McGilvray; F H Allen
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

6.  Ring chromosome 18 in a patient with multiple anomalies.

Authors:  C G Palmer; N Fareed; A D Merritt
Journal:  J Med Genet       Date:  1967-06       Impact factor: 6.318

7.  Congenital malformations associated with a ring 4 chromosome.

Authors:  R Carter; E Baker; D Hayman
Journal:  J Med Genet       Date:  1969-06       Impact factor: 6.318

8.  "Cri du Chat" due to a ring-B chromosome.

Authors:  R A Rohde; R Tompkins
Journal:  Lancet       Date:  1965-11-20       Impact factor: 79.321

9.  Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome.

Authors:  O J Miller; W R Breg; D Warburton; D A Miller; I L Firschein; K Hirschhorn
Journal:  Cytogenetics       Date:  1966
  9 in total
  9 in total

1.  Derivative chromosomal structures from a ring chromsome 4.

Authors:  R Niss; E Passarge
Journal:  Humangenetik       Date:  1975-05-26

2.  A child with multiple congenital malformations and a 46,XX,t(Bq+;Dq-)-45,XX,-B,-D,+der(B),t(Bq+;Dq-) karyotype.

Authors:  A Carnevale; L De los Cobos
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

3.  Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies.

Authors:  M S Golbus; F A Conte; D L Daentl
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

4.  The 4p-syndrome, with a report of two new cases.

Authors:  J P Fryns; E Eggermont; H Verresen; H Van den Berghe
Journal:  Humangenetik       Date:  1973

Review 5.  Mammalian chromosomes contain cis-acting elements that control replication timing, mitotic condensation, and stability of entire chromosomes.

Authors:  Mathew J Thayer
Journal:  Bioessays       Date:  2012-06-18       Impact factor: 4.345

6.  Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm.

Authors:  R Bernstein; A T Milne; T Jenkins
Journal:  J Med Genet       Date:  1978-08       Impact factor: 6.318

7.  Inheritance of a ring 14 chromosome.

Authors:  S B Riley; K E Buckton; S G Ratcliffe; J Syme
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

Review 8.  The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.

Authors:  Peining Li; Barbara Dupont; Qiping Hu; Marco Crimi; Yiping Shen; Igor Lebedev; Thomas Liehr
Journal:  HGG Adv       Date:  2022-09-10

9.  Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.

Authors:  César Paz-Y-Miño; Ana Proaño; Stella D Verdezoto; Juan Luis García; Jesús María Hernández-Rivas; Paola E Leone
Journal:  BMC Med Genomics       Date:  2019-11-21       Impact factor: 3.063
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.