Literature DB >> 25572250

De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.

Carlos Córdova-Fletes1, Enrique Sáinz-González, Roberto Iván Avendaño-Gálvez, Azubel Ramírez-Velazco, Horacio Rivera, Rocío Ortiz-López, Eliakym Arámbula-Meraz, Verónica Judith Picos-Cárdenas.   

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Year:  2014        PMID： 25572250     DOI： 10.1007/s12041-014-0459-8

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


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  17 in total

1.  Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features.

Authors:  Kaylee E Henson; Karrie A Hines; David D Weaver; Wilfredo M Torres; Jennifer Verbrugge; Kristyne Stone; Gail H Vance
Journal:  Am J Med Genet A       Date:  2012-05-31       Impact factor: 2.802

2.  Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding.

Authors:  Ni-Chung Lee; Shun-Ping Chang; Cheng-Shyong Chang; Chia-Hsiang Chen; Dong-Jay Lee; Chyi-Chyang Lin; Wuh-Liang Hwu; Ming Chen
Journal:  Prenat Diagn       Date:  2009-11       Impact factor: 3.050

3.  Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Authors:  Sylvie Nguyen-Minh; Katrin Drossel; Denise Horn; Imma Rost; Birgit Spors; Angela M Kaindl
Journal:  Gene       Date:  2013-04-05       Impact factor: 3.688

4.  Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

Authors:  L Boghosian-Sell; R Mewar; W Harrison; R M Shapiro; E H Zackai; J Carey; L Davis-Keppen; L Hudgins; J Overhauser
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

5.  Narrowing critical regions and determining penetrance for selected 18q- phenotypes.

Authors:  Jannine D Cody; Patricia L Heard; Analisa C Crandall; Erika M Carter; John Li; L Jean Hardies; Jack Lancaster; Brian Perry; Robert F Stratton; Courtney Sebold; Rebecca L Schaub; Bridgette Soileau; Annice Hill; Minire Hasi; Peter T Fox; Daniel E Hale
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

6.  High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH).

Authors:  Patricia L Heard; Erika M Carter; Analisa C Crandall; Courtney Sebold; Daniel E Hale; Jannine D Cody
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

7.  Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.

Authors:  W Courtens; D Grossman; N Van Roy; L Messiaen; E Vamos; V Toppet; D Haumont; C Streydio; A Jauch; J R Vermeesch; F Speleman
Journal:  Hum Genet       Date:  1998-10       Impact factor: 4.132

8.  Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Authors:  Ilse Feenstra; Lisenka E L M Vissers; Mirjam Orsel; Ad Geurts van Kessel; Han G Brunner; Joris A Veltman; Conny M A van Ravenswaaij-Arts
Journal:  Am J Med Genet A       Date:  2007-08-15       Impact factor: 2.802

9.  FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.

Authors:  Kim Debacker; Birgitta Winnepenninckx; Neta Ben-Porat; David FitzPatrick; Rob Van Luijk; Stefaan Scheers; Batsheva Kerem; R Frank Kooy
Journal:  J Med Genet       Date:  2007-05       Impact factor: 6.318

10.  Generation of tandem direct duplications by reversed-ends transposition of maize ac elements.

Authors:  Jianbo Zhang; Tao Zuo; Thomas Peterson
Journal:  PLoS Genet       Date:  2013-08-15       Impact factor: 5.917
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