Literature DB >> 15099353

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

D A Koolen, L E L M Vissers, W Nillesen, D Smeets, C M A van Ravenswaaij, E A Sistermans, J A Veltman, B B A de Vries, B D A de Vries.   

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Year:  2004        PMID： 15099353     DOI： 10.1111/j.0009-9163.2004.00245.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

1.  2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Authors:  S Jaillard; C Dubourg; M Gérard-Blanluet; A Delahaye; L Pasquier; C Dupont; C Henry; A-C Tabet; J Lucas; A Aboura; V David; B Benzacken; S Odent; E Pipiras
Journal:  J Med Genet       Date:  2008-09-23       Impact factor: 6.318

2.  Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Authors:  Michael E Talkowski; Sureni V Mullegama; Jill A Rosenfeld; Bregje W M van Bon; Yiping Shen; Elena A Repnikova; Julie Gastier-Foster; Devon Lamb Thrush; Sekar Kathiresan; Douglas M Ruderfer; Colby Chiang; Carrie Hanscom; Carl Ernst; Amelia M Lindgren; Cynthia C Morton; Yu An; Caroline Astbury; Louise A Brueton; Klaske D Lichtenbelt; Lesley C Ades; Marco Fichera; Corrado Romano; Jeffrey W Innis; Charles A Williams; Dennis Bartholomew; Margot I Van Allen; Aditi Parikh; Lilei Zhang; Bai-Lin Wu; Robert E Pyatt; Stuart Schwartz; Lisa G Shaffer; Bert B A de Vries; James F Gusella; Sarah H Elsea
Journal:  Am J Hum Genet       Date:  2011-10-07       Impact factor: 11.025

3.  The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

Authors:  Holly N Cukier; Joycelyn M Lee; Deqiong Ma; Juan I Young; Vera Mayo; Brittany L Butler; Sandhya S Ramsook; Joseph A Rantus; Alexander J Abrams; Patrice L Whitehead; Harry H Wright; Ruth K Abramson; Jonathan L Haines; Michael L Cuccaro; Margaret A Pericak-Vance; John R Gilbert
Journal:  Autism Res       Date:  2012-10-10       Impact factor: 5.216

4.  Diagnostic genome profiling in mental retardation.

Authors:  Bert B A de Vries; Rolph Pfundt; Martijn Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny M A van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

5.  Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.

Authors:  Heike Fiegler; Richard Redon; Nigel P Carter
Journal:  Nat Protoc       Date:  2007       Impact factor: 13.491

6.  Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Authors:  J C Hodge; E Mitchell; V Pillalamarri; T L Toler; F Bartel; H M Kearney; Y S Zou; W H Tan; C Hanscom; S Kirmani; R R Hanson; S A Skinner; R C Rogers; D B Everman; E Boyd; C Tapp; S V Mullegama; D Keelean-Fuller; C M Powell; S H Elsea; C C Morton; J F Gusella; B DuPont; A Chaubey; A E Lin; M E Talkowski
Journal:  Mol Psychiatry       Date:  2013-04-16       Impact factor: 15.992

7.  Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Authors:  Stephen R Williams; Sureni V Mullegama; Jill A Rosenfeld; Aditi I Dagli; Eli Hatchwell; William P Allen; Charles A Williams; Sarah H Elsea
Journal:  Eur J Hum Genet       Date:  2009-11-11       Impact factor: 4.246

8.  The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Authors:  Bregje W M van Bon; David A Koolen; Louise Brueton; Dominic McMullan; Klaske D Lichtenbelt; Lesley C Adès; Gregory Peters; Kate Gibson; Susan Moloney; Francesca Novara; Tiziano Pramparo; Bernardo Dalla Bernardina; Leonardo Zoccante; Umberto Balottin; Fausta Piazza; Vanna Pecile; Paolo Gasparini; Veronica Guerci; Marleen Kets; Rolph Pfundt; Arjan P de Brouwer; Joris A Veltman; Nicole de Leeuw; Meredith Wilson; Jayne Antony; Santina Reitano; Daniela Luciano; Marco Fichera; Corrado Romano; Han G Brunner; Orsetta Zuffardi; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2009-10-07       Impact factor: 4.246

9.  Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Authors:  Janine Wagenstaller; Stephanie Spranger; Bettina Lorenz-Depiereux; Bernd Kazmierczak; Michaela Nathrath; Dagmar Wahl; Babett Heye; Dieter Glaser; Volkmar Liebscher; Thomas Meitinger; Tim M Strom
Journal:  Am J Hum Genet       Date:  2007-08-28       Impact factor: 11.025

10.  A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

Authors:  Rosanna Weksberg; Simon Hughes; Laura Moldovan; Anne S Bassett; Eva W C Chow; Jeremy A Squire
Journal:  BMC Genomics       Date:  2005-12-13       Impact factor: 3.969
  10 in total

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