Literature DB >> 8357027

Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots.

H G Brunner1, T Hulsebos, P M Steijlen, D J der Kinderen, A vd Steen, B C Hamel.   

Abstract

We have performed linkage analysis in a small family with autosomal dominant inheritance of multiple café-au-lait spots (CLS) in order to clarify its relationship to classical von Recklinghausen disease (NF 1). We found that an affected woman had transmitted a different haplotype for markers flanking the NF1 gene to both of her affected daughters. These results exclude an allelic mutation of the NF 1 gene on chromosome 17 as the cause for inherited café-au-lait spots in this family.

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Year:  1993        PMID: 8357027     DOI: 10.1002/ajmg.1320460428

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  SPRED 1 mutations in a neurofibromatosis clinic.

Authors:  Talia M Muram-Zborovski; David A Stevenson; David H Viskochil; David C Dries; Andrew R Wilson
Journal:  J Child Neurol       Date:  2010-02-22       Impact factor: 1.987

2.  An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Authors:  M Upadhyaya; S M Huson; M Davies; N Thomas; N Chuzhanova; S Giovannini; D G Evans; E Howard; B Kerr; S Griffiths; C Consoli; L Side; D Adams; M Pierpont; R Hachen; A Barnicoat; H Li; P Wallace; J P Van Biervliet; D Stevenson; D Viskochil; D Baralle; E Haan; V Riccardi; P Turnpenny; C Lazaro; L Messiaen
Journal:  Am J Hum Genet       Date:  2006-12-08       Impact factor: 11.025

3.  A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Authors:  E Ars; H Kruyer; A Gaona; P Casquero; J Rosell; V Volpini; E Serra; C Lázaro; X Estivill
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

Review 4.  Molecular genetics of neurofibromatosis type 1 (NF1).

Authors:  M H Shen; P S Harper; M Upadhyaya
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

5.  p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Authors:  Valentina Pinna; Valentina Lanari; Paola Daniele; Federica Consoli; Emanuele Agolini; Katia Margiotti; Irene Bottillo; Isabella Torrente; Alessandro Bruselles; Caterina Fusilli; Anna Ficcadenti; Sara Bargiacchi; Eva Trevisson; Monica Forzan; Sandra Giustini; Chiara Leoni; Giuseppe Zampino; Maria Cristina Digilio; Bruno Dallapiccola; Maurizio Clementi; Marco Tartaglia; Alessandro De Luca
Journal:  Eur J Hum Genet       Date:  2014-11-05       Impact factor: 4.246

  5 in total

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