Literature DB >> 8218038

Clinical and genetic patterns of neurofibromatosis 1 and 2.

N K Ragge1.   

Abstract

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Year:  1993        PMID： 8218038      PMCID： PMC504612          DOI： 10.1136/bjo.77.10.662

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  118 in total

1.  Signal transduction. Rac and Rho in tune.

Authors:  J Downward
Journal:  Nature       Date:  1992-09-24       Impact factor: 49.962

2.  Exons as microgenes?

Authors:  H M Seidel; D L Pompliano; J R Knowles
Journal:  Science       Date:  1992-09-11       Impact factor: 47.728

Review 3.  Type 1 neurofibromatosis and the pediatric patient.

Authors:  V M Riccardi
Journal:  Curr Probl Pediatr       Date:  1992-02

4.  Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

Authors:  D Viskochil; A M Buchberg; G Xu; R M Cawthon; J Stevens; R K Wolff; M Culver; J C Carey; N G Copeland; N A Jenkins
Journal:  Cell       Date:  1990-07-13       Impact factor: 41.582

5.  Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5).

Authors:  E Boltshauser; H Stocker; M Mächler
Journal:  Neurofibromatosis       Date:  1989

6.  A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.

Authors:  M Stark; G Assum; W Krone
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

7.  Identification and characterization of the neurofibromatosis type 1 protein product.

Authors:  J E DeClue; B D Cohen; D R Lowy
Journal:  Proc Natl Acad Sci U S A       Date:  1991-11-15       Impact factor: 11.205

8.  Brain tumors in children with von Recklinghausen neurofibromatosis.

Authors:  H Hochstrasser; E Boltshauser; A Valavanis
Journal:  Neurofibromatosis       Date:  1988

9.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

10.  Combined hamartoma of the retina and retinal pigment epithelium in a patient with neurofibromatosis type 2.

Authors:  A Sivalingam; J Augsburger; G Perilongo; R Zimmerman; G Barabas
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1991 Nov-Dec       Impact factor: 1.402
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  9 in total

1.  A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

Authors:  Sean Boley; Jennifer L Sloan; Alexander Pemov; Douglas R Stewart
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-06-10       Impact factor: 4.799

2.  Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

Authors:  V M Park; E K Pivnick
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

3.  Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2.

Authors:  Chi-Chao Chan; Christian A Koch; Muriel I Kaiser-Kupfer; Dilys M Parry; David H Gutmann; Zhengping Zhuang; Alexander O Vortmeyer
Journal:  J Pathol       Date:  2002-09       Impact factor: 7.996

4.  Neurofibromatosis type 2: a case of ptosis.

Authors:  L Cotticelli; M Romano; S Russo; M Borrelli
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2007-03-09       Impact factor: 3.117

5.  Neurofibromatosis type 2 protein co-localizes with elements of the cytoskeleton.

Authors:  M A den Bakker; M Tascilar; P H Riegman; A C Hekman; W Boersma; P J Janssen; T A de Jong; W Hendriks; T H van der Kwast; E C Zwarthoff
Journal:  Am J Pathol       Date:  1995-11       Impact factor: 4.307

Review 6.  Critical windows of exposure for children's health: cancer in human epidemiological studies and neoplasms in experimental animal models.

Authors:  L M Anderson; B A Diwan; N T Fear; E Roman
Journal:  Environ Health Perspect       Date:  2000-06       Impact factor: 9.031

7.  Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy.

Authors:  Jessica Mani Penny Tevaraj; Evelyn Tai Li Min; Raja Azmi Mohd Noor; Azhany Yaakub; Wan Hazabbah Wan Hitam
Journal:  Case Rep Ophthalmol Med       Date:  2016-09-21

8.  Long-Term Outcomes of Stereotactic Radiosurgery for Vestibular Schwannoma Associated with Neurofibromatosis Type 2 in Comparison to Sporadic Schwannoma.

Authors:  Yuki Shinya; Hirotaka Hasegawa; Masahiro Shin; Takehiro Sugiyama; Mariko Kawashima; Wataru Takahashi; Shinichi Iwasaki; Akinori Kashio; Hirofumi Nakatomi; Nobuhito Saito
Journal:  Cancers (Basel)       Date:  2019-10-07       Impact factor: 6.639

9.  Vestibular schwannoma associated with neurofibromatosis type 2: Clinical course following stereotactic radiosurgery.

Authors:  Junhyung Kim; Yukyeng Byeon; Sang Woo Song; Young Hyun Cho; Chang-Ki Hong; Seok Ho Hong; Jeong Hoon Kim; Do Heui Lee; Ji Eun Park; Ho Sung Kim; Young-Hoon Kim
Journal:  Front Oncol       Date:  2022-09-16       Impact factor: 5.738
  9 in total

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