Literature DB >> 24371185

A study of a rare chromosomal disorder: mosaic 46, XX, del (18)(p11.2)/46, XX, i(18q).

Dan Peng1, Pan-Pan Long, Bo Wen, Rong-Hui Yu.   

Abstract

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Year:  2013        PMID： 24371185     DOI： 10.1007/s12041-013-0307-2

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  17 in total

Review 1.  Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.

Authors:  G N Wilson; K B Heller; R D Elterman; N R Schneider
Journal:  Am J Med Genet       Date:  1990-08

2.  Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation.

Authors:  Beena Koshy; Kausik Mandal; Vivi M Srivastava; Preeti T Loius; Sumita Danda
Journal:  Clin Dysmorphol       Date:  2011-07       Impact factor: 0.816

3.  Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

Authors:  Christian H Brenk; Eva-Christina Prott; Detlef Trost; Alexander Hoischen; Constanze Walldorf; Bernhard Radlwimmer; Dagmar Wieczorek; Peter Propping; Gabriele Gillessen-Kaesbach; Ruthild G Weber; Hartmut Engels
Journal:  Eur J Hum Genet       Date:  2006-10-04       Impact factor: 4.246

4.  A somatic origin of homologous Robertsonian translocations and isochromosomes.

Authors:  W P Robinson; F Bernasconi; S Basaran; M Yüksel-Apak; G Neri; F Serville; P Balicek; R Haluza; L M Farah; G Lüleci
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

5.  [Rare case of mosaicism for chromosome 18, karyotype: 46, XX, del(18) (p11)/46, XX, i(18q)].

Authors:  L O Badalian; G R Mutovin; N A Malygina; A S Petrukhin
Journal:  Genetika       Date:  1983-11

6.  The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes.

Authors:  E B Hook; B B Topol; P K Cross
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

7.  Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

Authors:  Ulrika Wester; Marie-Louise Bondeson; Christina Edeby; Göran Annerén
Journal:  Am J Med Genet A       Date:  2006-06-01       Impact factor: 2.802

8.  Chromosome 18 aberrations and epilepsy: a review.

Authors:  S Grosso; L Pucci; R M Di Bartolo; G Gobbi; G Bartalini; C Anichini; R Scarinci; M Balestri; M A Farnetani; M Cioni; G Morgese; P Balestri
Journal:  Am J Med Genet A       Date:  2005-04-01       Impact factor: 2.802

9.  Familial deletion 18p syndrome: case report.

Authors:  Bruno Maranda; Nicole Lemieux; Emmanuelle Lemyre
Journal:  BMC Med Genet       Date:  2006-07-14       Impact factor: 2.103

Review 10.  Monosomy 18p.

Authors:  Catherine Turleau
Journal:  Orphanet J Rare Dis       Date:  2008-02-19       Impact factor: 4.123
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  2 in total

1.  A case of 18p deletion syndrome after blepharoplasty.

Authors:  Li-Juan Xu; Lv-Xian Wu; Qing Yuan; Zhi-Gang Lv; Xue-Yan Jiang
Journal:  Int Med Case Rep J       Date:  2017-01-12

2.  Rarely Seen Nasal Congenital Problems Causing Neonatal Upper Respiratory Obstruction: A Case Series.

Authors:  Yeşim Başal; Abdullah Bariş Akcan; Yasemin Durum Polat; Ceren Günel; Aylin Eryilmaz; Sema Başak
Journal:  Pediatr Rep       Date:  2016-03-31
  2 in total

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