Literature DB >> 11185073

Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination.

S L Dabora, A A Nieto, D Franz, S Jozwiak, A Van Den Ouweland, D J Kwiatkowski.   

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Year:  2000        PMID： 11185073      PMCID： PMC1734458          DOI： 10.1136/jmg.37.11.877

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


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  5 in total

1.  Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

Authors:  Ans M W van den Ouweland; Peter Elfferich; Bernard A Zonnenberg; Willem F Arts; Tjitske Kleefstra; Mark D Nellist; Jose M Millan; Caroline Withagen-Hermans; Anneke J A Maat-Kievit; Dicky J J Halley
Journal:  Eur J Hum Genet       Date:  2010-09-29       Impact factor: 4.246

2.  Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Authors:  S L Dabora; S Jozwiak; D N Franz; P S Roberts; A Nieto; J Chung; Y S Choy; M P Reeve; E Thiele; J C Egelhoff; J Kasprzyk-Obara; D Domanska-Pakiela; D J Kwiatkowski
Journal:  Am J Hum Genet       Date:  2000-12-08       Impact factor: 11.025

3.  Homozygous deletion of the STK11/LKB1 locus and the generation of novel fusion transcripts in cervical cancer cells.

Authors:  Michael T McCabe; Doris R Powell; Wei Zhou; Paula M Vertino
Journal:  Cancer Genet Cytogenet       Date:  2010-03

4.  Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Authors:  Ulf P Guenther; Markus Schuelke; Enrico Bertini; Adele D'Amico; Nathalie Goemans; Katja Grohmann; Christoph Hübner; Raymonda Varon
Journal:  Hum Genet       Date:  2004-09       Impact factor: 4.132

5.  Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Authors:  Piotr Kozlowski; Penelope Roberts; Sandra Dabora; David Franz; John Bissler; Hope Northrup; Kit Sing Au; Ross Lazarus; Dorota Domanska-Pakiela; Katarzyna Kotulska; Sergiusz Jozwiak; David J Kwiatkowski
Journal:  Hum Genet       Date:  2007-02-08       Impact factor: 4.132
  5 in total

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