Literature DB >> 11754054

First familial case of ring chromosome 18 and monosomy 18 mosaicism.

C Yardin, F Esclaire, F Terro, M C Baclet, D Barthe, C Laroche.   

Abstract

Mesh：

Year:  2001        PMID： 11754054

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  8 in total

Review 1.  Autosomal ring chromosomes in human genetic disorders.

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

2.  Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

Authors:  Isabel M Carreira; Alexandra Mascarenhas; Eunice Matoso; Ana B Couceiro; Lina Ramos; Andreas Dufke; Marie Mazauric; Rüdiger Stressig; Nadezda Kosyakova; Joana B Melo; Thomas Liehr
Journal:  J Histochem Cytochem       Date:  2007-06-26       Impact factor: 2.479

3.  Adults with Chromosome 18 Abnormalities.

Authors:  Bridgette Soileau; Minire Hasi; Courtney Sebold; Annice Hill; Louise O'Donnell; Daniel E Hale; Jannine D Cody
Journal:  J Genet Couns       Date:  2014-11-19       Impact factor: 2.537

4.  Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.

Authors:  Enkhtuvshin Gereltzul; Yoshiyuki Baba; Naoto Suda; Momotoshi Shiga; Maristela Sayuri Inoue; Michiko Tsuji; Insik Shin; Yukio Hirata; Kimie Ohyama; Keiji Moriyama
Journal:  J Hum Genet       Date:  2008-08-05       Impact factor: 3.172

5.  An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.

Authors:  Altuğ Koç; Derya Kan; Kadri Karaer; Mehmet A Ergün; Meral Yirmibeş Karaoğuz; Kivilcim Gücüyener; Sophie Hinreiner; Thomas Liehr; E Ferda Perçin
Journal:  Eur J Pediatr       Date:  2007-08-01       Impact factor: 3.183

6.  Ring autosomes: some unexpected findings.

Authors:  L Caba; C Rusu; G Gug; M Grămescu; C Bujoran; D Ochiană; M Voloşciuc; R Popescu; E Braha; M Pânzaru; L Butnariu; A Sireteanu; M Covic; Ev Gorduza
Journal:  Balkan J Med Genet       Date:  2012-12       Impact factor: 0.519

7.  Chromosome abnormalities in Indonesian patients with short stature.

Authors:  Chrysantine Paramayuda; Hannie Kartapradja; Debby D Ambarwati; Helena W Anggaratri; Lita P Suciati; Nanis S Marzuki; Alida Harahap
Journal:  Mol Cytogenet       Date:  2012-08-06       Impact factor: 2.009

8.  Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.

Authors:  Bagas A Marsudi; Hannie Kartapradja; Chrysantine Paramayuda; Jose R L Batubara; Alida R Harahap; Nanis S Marzuki
Journal:  Mol Cytogenet       Date:  2018-05-08       Impact factor: 2.009
  8 in total

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