Literature DB >> 22127048

12-year-old boy with a 4q35.2 microdeletion and involvement of MTNR1A, FAT1, and F11 genes.

Erin L Youngs1, Rebecca S Henkhaus, Jessica A Hellings, Merlin G Butler.   

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Year:  2012        PMID： 22127048      PMCID： PMC5289292          DOI： 10.1097/MCD.0b013e32834e9216

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  14 in total

1.  Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.

Authors:  Douglas C Bittel; Nataliya Kibiryeva; Zohreh Talebizadeh; Daniel J Driscoll; Merlin G Butler
Journal:  Genomics       Date:  2005-01       Impact factor: 5.736

2.  Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.

Authors:  Sofia Kitsiou-Tzeli; Carolina Sismani; George Koumbaris; Marios Ioannides; Emmanuel Kanavakis; Angeliki Kolialexi; Ariadni Mavrou; Vasiliki Touliatou; Philippos C Patsalis
Journal:  Eur J Med Genet       Date:  2007-10-02       Impact factor: 2.708

3.  Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation.

Authors:  R Mdzin; C Ko; Z Abdul Latif; Z Zakaria
Journal:  Singapore Med J       Date:  2008-11       Impact factor: 1.858

4.  Population cytogenetics of folate-sensitive fragile sites. I. Common fragile sites.

Authors:  M Kähkönen
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

5.  Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a).

Authors:  S A Slaugenhaupt; A L Roca; C B Liebert; M R Altherr; J F Gusella; S M Reppert
Journal:  Genomics       Date:  1995-05-20       Impact factor: 5.736

6.  Identification and molecular characterization of two novel chromosomal deletions associated with autism.

Authors:  W-H Chien; S S-F Gau; Y-Y Wu; Y-S Huang; J-S Fang; Y-J Chen; W-T Soong; Y-N Chiu; C-H Chen
Journal:  Clin Genet       Date:  2010-11       Impact factor: 4.438

7.  Distribution of MT1 melatonin receptor immunoreactivity in the human hypothalamus and pituitary gland: colocalization of MT1 with vasopressin, oxytocin, and corticotropin-releasing hormone.

Authors:  Ying-Hui Wu; Jiang-Ning Zhou; Rawien Balesar; Unga Unmehopa; Aimin Bao; Ralf Jockers; Joop Van Heerikhuize; Dick F Swaab
Journal:  J Comp Neurol       Date:  2006-12-20       Impact factor: 3.215

Review 8.  Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

Authors:  Michael R Rossi; Miriam S DiMaio; Bixia Xiang; Kangmo Lu; Hande Kaymakcalan; Margretta Seashore; Maurice J Mahoney; Peining Li
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

9.  A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient.

Authors:  Roberto Quadrelli; Eugen M Strehle; Alicia Vaglio; Mariela Larrandaburu; Búrix Mechoso; Andrea Quadrelli; Yao-Shan Fan; Taosheng Huang
Journal:  Genet Test       Date:  2007

10.  Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule.

Authors:  J Dunne; A M Hanby; R Poulsom; T A Jones; D Sheer; W G Chin; S M Da; Q Zhao; P C Beverley; M J Owen
Journal:  Genomics       Date:  1995-11-20       Impact factor: 5.736
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  3 in total

1.  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

2.  Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.

Authors:  Wilson Wai Sing Chong; Ivan Fai Man Lo; Stephen Tak Sum Lam; Chi Chiu Wang; Ho Ming Luk; Tak Yeung Leung; Kwong Wai Choy
Journal:  Mol Cytogenet       Date:  2014-05-23       Impact factor: 2.009

Review 3.  Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

Authors:  Barbara Vona; Indrajit Nanda; Cordula Neuner; Jörg Schröder; Vera M Kalscheuer; Wafaa Shehata-Dieler; Thomas Haaf
Journal:  BMC Med Genet       Date:  2014-06-25       Impact factor: 2.103
  3 in total

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