Literature DB >> 11950869

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome.

P De Mas, N Chassaing, Y Chaix, M-C Vincent, S Julia, G Bourrouillou, P Calvas, E Bieth.   

Abstract

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Year:  2002        PMID： 11950869      PMCID： PMC1735090          DOI： 10.1136/jmg.39.4.e17

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


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  5 in total

Review 1.  Autosomal ring chromosomes in human genetic disorders.

Authors:  Moh-Ying Yip
Journal:  Transl Pediatr       Date:  2015-04

2.  Phenotypic correlations in a patient with ring chromosome 22.

Authors:  Osman Demirhan; Erdal Tunç
Journal:  Indian J Hum Genet       Date:  2010-05

3.  Ring chromosome 22: a review of the literature and first report from India.

Authors:  S Mahajan; A Kaur; J Singh
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

4.  Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

Authors:  Anna A Kashevarova; Elena O Belyaeva; Aleksandr M Nikonov; Olga V Plotnikova; Nikolay A Skryabin; Tatyana V Nikitina; Stanislav A Vasilyev; Yulia S Yakovleva; Nadezda P Babushkina; Ekaterina N Tolmacheva; Mariya E Lopatkina; Renata R Savchenko; Lyudmila P Nazarenko; Igor N Lebedev
Journal:  Mol Cytogenet       Date:  2018-04-27       Impact factor: 2.009

5.  Pathogenesis of vestibular schwannoma in ring chromosome 22.

Authors:  Ellen Denayer; Hilde Brems; Paul de Cock; Gareth D Evans; Frank Van Calenbergh; Naomi Bowers; Raf Sciot; Maria Debiec-Rychter; Joris V Vermeesch; Jean-Pierre Fryns; Eric Legius
Journal:  BMC Med Genet       Date:  2009-09-22       Impact factor: 2.103
  5 in total

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