Literature DB >> 17676610

18p trisomy: a case of direct 18p duplication characterized by molecular cytogenetic analysis.

H Marical1, M J Le Bris, N Douet-Guilbert, P Parent, J P Descourt, F Morel, M De Braekeleer.   

Abstract

Mesh：

Year:  2007        PMID： 17676610     DOI： 10.1002/ajmg.a.31881

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions.

Authors:  Hannah C D Esdal; Muhammad B Ghbeis; Daniel A Saltzman; Donavon Hess; Janet R Hume; Robyn C Reed; Susan A Berry; Eric Hoggard; Betsy Hirsch; Linda B Baughn; Lisa A Schimmenti
Journal:  Mol Syndromol       Date:  2018-04-28

2.  Genetic determinants of autism in individuals with deletions of 18q.

Authors:  Louise O'Donnell; Bridgette Soileau; Patricia Heard; Erika Carter; Courtney Sebold; Jon Gelfond; Daniel E Hale; Jannine D Cody
Journal:  Hum Genet       Date:  2010-05-25       Impact factor: 4.132

3.  Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

Authors:  Malgorzata I Srebniak; Marjan Boter; Carla Ma Verboven-Peerden; Gerda Ag Looye-Bruinsma; Gretel Oudesluijs; Robert-Jan H Galjaard; Diane Van Opstal
Journal:  Mol Cytogenet       Date:  2011-12-02       Impact factor: 2.009

4.  Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.

Authors:  Guillaume Jedraszak; Henri Copin; Manuel Demailly; Catherine Quibel; Thierry Leclerc; Marlène Gallet; Moncef Benkhalifa; Aline Receveur
Journal:  Mol Cytogenet       Date:  2015-06-04       Impact factor: 2.009

Review 5.  Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman.

Authors:  Jianjiang Zhu; Hong Qi; Sha Cao; Lirong Cai; Xiaohui Wen; Guodong Tang; Qian Wan; Chen Chen; Juan Wang; Wen Zeng; Yao Luo
Journal:  Mol Genet Genomic Med       Date:  2019-07-17       Impact factor: 2.183

6.  Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.

Authors:  A Sireteanu; M Voloşciuc; M Grămescu; Ev Gorduza; C Vulpoi; I Frunză; C Rusu
Journal:  Balkan J Med Genet       Date:  2013-12       Impact factor: 0.519
  6 in total

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