Literature DB >> 3105316

Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis.

P Meinecke.   

Abstract

Entities:  

Mesh：

Year:  1987        PMID： 3105316     DOI： 10.1002/ajmg.1320260331

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


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  6 in total

1.  Neurofibromatosis type 1 in children.

Authors:  G R Beauchamp
Journal:  Trans Am Ophthalmol Soc       Date:  1995

2.  Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Authors:  M Tassabehji; T Strachan; M Sharland; A Colley; D Donnai; R Harris; N Thakker
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

3.  Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

Authors:  H J Stern; H M Saal; J S Lee; P R Fain; D E Goldgar; K N Rosenbaum; D F Barker
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

4.  Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

Authors:  L M Kayes; W Burke; V M Riccardi; R Bennett; P Ehrlich; A Rubenstein; K Stephens
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

5.  NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

Authors:  Alessandro De Luca; Irene Bottillo; Anna Sarkozy; Claudio Carta; Cinzia Neri; Emanuele Bellacchio; Annalisa Schirinzi; Emanuela Conti; Giuseppe Zampino; Agatino Battaglia; Silvia Majore; Maria M Rinaldi; Massimo Carella; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Marco Tartaglia; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2005-10-26       Impact factor: 11.025

6.  Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

Authors:  Doğuş Vurallı; Nazlı Gönç; Dominique Vidaud; Alev Özön; Ayfer Alikaşifoğlu; Nurgün Kandemir
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12-18
  6 in total

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