Literature DB >> 11125121

HC Forum: a web site based on an international human cytogenetic database.

O Cohen1, M A Mermet, J Demongeot.   

Abstract

Familial structural rearrangements of chromosomes represent a factor of malformation risk that could vary over a large range, making genetic counseling difficult. However, they also represent a powerful tool for increasing knowledge of the genome, particularly by studying breakpoints and viable imbalances of the genome. We have developed a collaborative database that now includes data on more than 4100 families, from which we have developed a web site called HC Forum (http://HCForum.imag.fr). It offers geneticists assistance in diagnosis and in genetic counseling by assessing the malformation risk with statistical models. For researchers, interactive interfaces exhibit the distribution of chromosomal breakpoints and of the genome regions observed at birth in trisomy or in monosomy. Dedicated tools including an interactive pedigree allow electronic submission of data, which will be anonymously shown in a forum for discussions. After validation, data are definitively registered in the database with the email of the sender, allowing direct location of biological material. Thus HC Forum constitutes a link between diagnosis laboratories and genome research centers, and after 1 year, more than 700 users from about 40 different countries already exist.

Entities:  

Mesh:

Year:  2001        PMID: 11125121      PMCID: PMC29821          DOI: 10.1093/nar/29.1.305

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  7 in total

1.  Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations.

Authors:  T Faraut; M A Mermet; J Demongeot; O Cohen
Journal:  Cytogenet Cell Genet       Date:  2000

2.  Cartographic study: breakpoints in 1574 families carrying human reciprocal translocations.

Authors:  O Cohen; C Cans; M Cuillel; J L Gilardi; H Roth; M A Mermet; P Jalbert; J Demongeot
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

Review 3.  Genatlas database, genes and development defects.

Authors:  J Frézal
Journal:  C R Acad Sci III       Date:  1998-10

4.  The London Dysmorphology Database.

Authors:  R M Winter; M Baraitser
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

5.  Human reciprocal translocations: is the unbalanced mode at birth predictable?

Authors:  C Cans; O Cohen; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

6.  Logistic regression model to estimate the risk of unbalanced offspring in reciprocal translocations.

Authors:  C Cans; O Cohen; C Lavergne; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1993-12       Impact factor: 4.132

Review 7.  Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Authors:  O Cohen; C Cans; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

  7 in total
  3 in total

1.  Influences of chromosome size, gene density and nuclear position on the frequency of constitutional translocations in the human population.

Authors:  Wendy A Bickmore; Peter Teague
Journal:  Chromosome Res       Date:  2002       Impact factor: 5.239

2.  Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome.

Authors:  M Abreu-González; C García-Delgado; A Cervantes; A Aparicio-Onofre; R Guevara-Yáñez; R Sánchez-Urbina; M P Gallegos-Arreola; A Luna-Angulo; F J Estrada; V F Morán-Barroso
Journal:  Case Rep Genet       Date:  2013-09-18

3.  A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia.

Authors:  Nejla Erkilic; Vincent Gatinois; Simona Torriano; Pauline Bouret; Carla Sanjurjo-Soriano; Valerie De Luca; Krishna Damodar; Nicolas Cereso; Jacques Puechberty; Rocio Sanchez-Alcudia; Christian P Hamel; Carmen Ayuso; Isabelle Meunier; Franck Pellestor; Vasiliki Kalatzis
Journal:  Cells       Date:  2019-09-11       Impact factor: 6.600

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.