Literature DB >> 18203195

Autistic and dysmorphic features associated with a submicroscopic 2q33.3-q34 interstitial deletion detected by array comparative genomic hybridization.

Duane T Brandau1, Molly Lund, Linda D Cooley, Warren G Sanger, Merlin G Butler.   

Abstract

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Year:  2008        PMID： 18203195      PMCID： PMC6816240          DOI： 10.1002/ajmg.a.32153

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


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  10 in total

1.  Pierre Robin sequence and interstitial deletion 2q32.3-q33.2.

Authors:  C Houdayer; M F Portnoï; F Vialard; V Soupre; C Crumière; J L Taillemite; R Couderc; M P Vazquez; M Bahuau
Journal:  Am J Med Genet       Date:  2001-08-15

2.  Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

Authors:  Anne-Marie Bisgaard; Maria Kirchhoff; Zeynep Tümer; Birgit Jepsen; Karen Brøndum-Nielsen; Monika Cohen; Bente Hamborg-Petersen; Thue Bryndorf; Niels Tommerup; Flemming Skovby
Journal:  Am J Med Genet A       Date:  2006-10-15       Impact factor: 2.802

3.  Lung hypoplasia in a patient with del(2)(q33-q35) demonstrated by chromosome microdissection.

Authors:  B W Kramer; T Martin; W Henn; S Lal; C P Speer
Journal:  Am J Med Genet       Date:  2000-09-18

4.  Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.

Authors:  Sofia Kitsiou-Tzeli; Carolina Sismani; Marios Ioannides; Stavros Bashiardes; Andria Ketoni; Vassiliki Touliatou; Aggeliki Kolialexi; Ariadni Mavrou; Emanuel Kanavakis; Philippos C Patsalis
Journal:  Eur J Med Genet       Date:  2006-10-11       Impact factor: 2.708

5.  The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

Authors:  G Van Buggenhout; C Van Ravenswaaij-Arts; N Mc Maas; R Thoelen; A Vogels; Dominique Smeets; I Salden; G Matthijs; J-P Fryns; J R Vermeesch
Journal:  Eur J Med Genet       Date:  2005 Jul-Sep       Impact factor: 2.708

Review 6.  Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.

Authors:  M Riegel; E Morava; M Czakó; G Kosztolányi; A Schinzel
Journal:  Am J Med Genet       Date:  2001-08-15

Review 7.  Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.

Authors:  W Courtens; F Speleman; L Messiaen; J Bormans; N Van Roy; E Vamos
Journal:  Am J Med Genet       Date:  1997-09-05

Review 8.  A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence.

Authors:  Mao Sheng Yang; Michael Gill
Journal:  Int J Dev Neurosci       Date:  2006-12-20       Impact factor: 2.457

Review 9.  2q24-q31 deletion: report of a case and review of the literature.

Authors:  C Pescucci; R Caselli; S Grosso; M A Mencarelli; F Mari; M A Farnetani; B Piccini; R Artuso; M Bruttini; M Priolo; O Zuffardi; S Gimelli; P Balestri; A Renieri
Journal:  Eur J Med Genet       Date:  2006-09-17       Impact factor: 2.708

10.  Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

Authors:  C Pescucci; I Meloni; M Bruttini; F Ariani; I Longo; F Mari; R Canitano; G Hayek; M Zappella; A Renieri
Journal:  Clin Genet       Date:  2003-12       Impact factor: 4.438
  10 in total
  6 in total

1.  Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment.

Authors:  Dong-Kyu Jin
Journal:  Korean J Pediatr       Date:  2012-07-17

Review 2.  Defective phosphoinositide metabolism in autism.

Authors:  Christina Gross
Journal:  J Neurosci Res       Date:  2016-07-04       Impact factor: 4.164

3.  Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.

Authors:  Jennifer L Roberts; Karine Hovanes; Majed Dasouki; Ann M Manzardo; Merlin G Butler
Journal:  Gene       Date:  2013-11-02       Impact factor: 3.688

4.  Krüppel-like factor 7 deficiency causes autistic-like behavior in mice via regulating Clock gene.

Authors:  Hui Tian; Yanwen Jiao; Mingyue Guo; Yilin Wang; Ruiqi Wang; Cao Wang; Xiongbiao Chen; Weiming Tian
Journal:  Cell Biosci       Date:  2022-10-07       Impact factor: 9.584

5.  MAP2 - A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34.

Authors:  Dominik S Westphal; Stephanie Andres; Christine Makowski; Thomas Meitinger; Julia Hoefele
Journal:  Front Genet       Date:  2018-03-26       Impact factor: 4.599

6.  Krüppel-like Transcription Factor 7 Is a Causal Gene in Autism Development.

Authors:  Hui Tian; Shupei Qiao; Yufang Zhao; Xiyun Jin; Cao Wang; Ruiqi Wang; Yilin Wang; Yanwen Jiao; Ying Liu; Bosong Zhang; Jiaming Jin; Yue Chen; Qinghua Jiang; Weiming Tian
Journal:  Int J Mol Sci       Date:  2022-03-21       Impact factor: 5.923
  6 in total

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