Literature DB >> 14569139

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region.

H Kehrer-Sawatzki1, S Tinschert, D E Jenne.   

Abstract

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Year:  2003        PMID： 14569139      PMCID： PMC1735284          DOI： 10.1136/jmg.40.10.e116

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


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  12 in total

1.  Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Authors:  Luca Ferrari; Giulietta Scuvera; Arianna Tucci; Donatella Bianchessi; Francesco Rusconi; Francesca Menni; Elena Battaglioli; Donatella Milani; Paola Riva
Journal:  Hum Genet       Date:  2017-08-03       Impact factor: 4.132

2.  Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene.

Authors:  W Stewart; J P Traynor; A Cooke; S Griffiths; N F Onen; M Balsitis; A A Shah; M Upadhyaya; E S Tobias
Journal:  Fam Cancer       Date:  2007       Impact factor: 2.375

3.  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

4.  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

5.  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

6.  Expression analysis of genes lying in the NF1 microdeletion interval points to four candidate modifiers for neurofibroma formation.

Authors:  B Bartelt-Kirbach; M Wuepping; M Dodrimont-Lattke; D Kaufmann
Journal:  Neurogenetics       Date:  2008-10-11       Impact factor: 2.660

7.  Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

Authors:  Eric Pasmant; Audrey Sabbagh; Julien Masliah-Planchon; Véronique Haddad; Marie-José Hamel; Ingrid Laurendeau; Jean Soulier; Béatrice Parfait; Pierre Wolkenstein; Ivan Bièche; Michel Vidaud; Dominique Vidaud
Journal:  J Mol Diagn       Date:  2009-09-18       Impact factor: 5.568

8.  The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

Authors:  Meena Upadhyaya; Gill Spurlock; Lan Kluwe; Nadia Chuzhanova; Emma Bennett; Nick Thomas; Abhijit Guha; Victor Mautner
Journal:  Neurogenetics       Date:  2009-02-17       Impact factor: 2.660

9.  Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

Authors:  Hildegard Kehrer-Sawatzki; Julia Vogt; Tanja Mußotter; Lan Kluwe; David N Cooper; Victor-Felix Mautner
Journal:  Neurogenetics       Date:  2012-05-13       Impact factor: 2.660

Review 10.  Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Authors:  Hildegard Kehrer-Sawatzki; Victor-Felix Mautner; David N Cooper
Journal:  Hum Genet       Date:  2017-02-17       Impact factor: 4.132
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