Literature DB >> 12843325

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.

E Petek, D E Jenne, J Smolle, B Binder, W Lasinger, C Windpassinger, K Wagner, P M Kroisel, H Kehrer-Sawatzki.   

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Year:  2003        PMID： 12843325      PMCID： PMC1735521          DOI： 10.1136/jmg.40.7.520

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


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  12 in total

1.  Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Authors:  Marco Venturin; Cristina Gervasini; Francesca Orzan; Angela Bentivegna; Lucia Corrado; Patrizia Colapietro; Alessandra Friso; Romano Tenconi; Meena Upadhyaya; Lidia Larizza; Paola Riva
Journal:  Hum Genet       Date:  2004-04-21       Impact factor: 4.132

2.  Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.

Authors:  Hildegard Kehrer-Sawatzki; Lan Kluwe; Carsten Fünsterer; Victor-Felix Mautner
Journal:  Hum Genet       Date:  2005-03-18       Impact factor: 4.132

3.  Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.

Authors:  Julia Vogt; Rosa Nguyen; Lan Kluwe; Martin Schuhmann; Angelika C Roehl; Tanja Mußotter; David N Cooper; Victor-Felix Mautner; Hildegard Kehrer-Sawatzki
Journal:  J Med Case Rep       Date:  2011-12-12

4.  NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

Authors:  Talia M Muram-Zborovski; Cecily P Vaughn; David H Viskochil; Heather Hanson; Rong Mao; David A Stevenson
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

5.  Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

Authors:  K K Mantripragada; A-C Thuresson; A Piotrowski; T Díaz de Ståhl; U Menzel; G Grigelionis; R E Ferner; S Griffiths; L Bolund; V Mautner; M Nordling; E Legius; D Vetrie; N Dahl; L Messiaen; M Upadhyaya; C E G Bruder; J P Dumanski
Journal:  J Med Genet       Date:  2005-06-08       Impact factor: 6.318

6.  Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

Authors:  Katharina Steinmann; David N Cooper; Lan Kluwe; Nadia A Chuzhanova; Cornelia Senger; Eduard Serra; Conxi Lazaro; Montserrat Gilaberte; Katharina Wimmer; Viktor-Felix Mautner; Hildegard Kehrer-Sawatzki
Journal:  Am J Hum Genet       Date:  2007-10-31       Impact factor: 11.025

7.  High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Authors:  H Kehrer-Sawatzki; L Kluwe; C Sandig; M Kohn; K Wimmer; U Krammer; A Peyrl; D E Jenne; I Hansmann; V-F Mautner
Journal:  Am J Hum Genet       Date:  2004-07-15       Impact factor: 11.025

8.  Loss of H3K27me3 Expression Is a Highly Sensitive Marker for Sporadic and Radiation-induced MPNST.

Authors:  Carlos N Prieto-Granada; Thomas Wiesner; Jane L Messina; Achim A Jungbluth; Ping Chi; Cristina R Antonescu
Journal:  Am J Surg Pathol       Date:  2016-04       Impact factor: 6.394

Review 9.  Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.

Authors:  Lars Anders Forsberg; Devin Absher; Jan Piotr Dumanski
Journal:  J Med Genet       Date:  2012-11-21       Impact factor: 6.318

10.  Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.

Authors:  Lars Anders Forsberg; Devin Absher; Jan Piotr Dumanski
Journal:  Postgrad Med J       Date:  2013-07       Impact factor: 2.401
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