Literature DB >> 11288712

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.

F Giraudeau, L Taine, V Biancalana, B Delobel, H Journel, C Missirian, D Lacombe, D Bonneau, P Parent, D Aubert, Y Hauck, M F Croquette, A Toutain, M G Mattei, H A Loiseau, A David, G Vergnaud.   

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Year:  2001        PMID： 11288712      PMCID： PMC1734816          DOI： 10.1136/jmg.38.2.121

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


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  6 in total

Review 1.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

2.  Predicting human minisatellite polymorphism.

Authors:  France Denoeud; Gilles Vergnaud; Gary Benson
Journal:  Genome Res       Date:  2003-04-14       Impact factor: 9.043

3.  De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Authors:  Brieana Fregeau; Bum Jun Kim; Andrés Hernández-García; Valerie K Jordan; Megan T Cho; Rhonda E Schnur; Kristin G Monaghan; Jane Juusola; Jill A Rosenfeld; Elizabeth Bhoj; Elaine H Zackai; Stephanie Sacharow; Kristin Barañano; Daniëlle G M Bosch; Bert B A de Vries; Kristin Lindstrom; Audrey Schroeder; Philip James; Peggy Kulch; Seema R Lalani; Mieke M van Haelst; Koen L I van Gassen; Ellen van Binsbergen; A James Barkovich; Daryl A Scott; Elliott H Sherr
Journal:  Am J Hum Genet       Date:  2016-04-14       Impact factor: 11.025

4.  1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.

Authors:  Dong Soo Kang; Eunsim Shin; Jeesuk Yu
Journal:  Korean J Pediatr       Date:  2016-11-30

5.  An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.

Authors:  Bum Jun Kim; Hitisha P Zaveri; Oleg A Shchelochkov; Zhiyin Yu; Andrés Hernández-García; Michelle L Seymour; John S Oghalai; Fred A Pereira; David W Stockton; Monica J Justice; Brendan Lee; Daryl A Scott
Journal:  PLoS One       Date:  2013-02-25       Impact factor: 3.240

6.  Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Authors:  Pricila da Silva Cunha; Heloisa B Pena; Carla Sustek D'Angelo; Celia P Koiffmann; Jill A Rosenfeld; Lisa G Shaffer; Martin Stofanko; Higgor Gonçalves-Dornelas; Sérgio Danilo Junho Pena
Journal:  Dis Markers       Date:  2014-04-15       Impact factor: 3.434
  6 in total

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