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Scholar Results 1 - 10 of 12 citing Ruggieri: Ophthalmological manifestations in segmental neurofibromatosis type 1. (0.23 sec) 

Neurofibromatosis type I: genetics and clinical manifestations


A Savar, DM Cestari - Seminars in Ophthalmology, 2007 - informahealthcare.com
Neurofibromatosis type I (NF-1) was first described by Friedrich Daniel von
Recklinghausen in 1882. It is a common genetic disease with multisystem
involvement and a number of ophthalmologic findings that can involve the ...
Cited by 6 - Related articles - BL Direct - All 4 versions

Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National …

- nsgc.org [PDF] 
HB Radtke, CD Sebold, C Allison, JL Haidle, … - Journal of Genetic Counseling, 2007 - Springer
Abstract The objective of this document is to provide recommendations for the
genetic counseling of patients and families undergoing evaluation for
neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1. ...
Cited by 5 - Related articles - BL Direct - All 4 versions

NEUROFIBROMATOSIS TYPE 1 & RELATED DISORDERS


M Ruggieri, M Upadhyaya, C Di Rocco, A … - Neurocutaneous Disorders: Phakomatoses & …, 2008 - Springer
The last decades have seen major developments in our knowledge of the different
forms of neurofibro- matosis (Ferner 2007a, b; Ferner et al. 2007; Friedman et
al. 1999; Huson and Hughes 1994; Korf and Rubenstein 2005; North 1997; ...
Cited by 1 - Related articles - All 3 versions

Clinical science-Extended reports: Ophthalmological manifestations in segmental …


BJ Ophthalmol - Br J Ophthalmol, 2004 - bjo.bmj.com
Previously we described a patient with unilateral sectorial hyperpigmented skin
lesions on his left shoulder and additional grouped CHRPE in the left eye. These
sectorial pigmentations were also noticed during the first months of life ...
Related articles - All 2 versions

Blaschkolinear Dermatoses-an overview of interesting patterned dermatological disorders


A Bari - … -COLLEGE OF PHYSICIANS AND SURGEONS OF …, 2007 - pakmedinet.com
A large number of congenital/nevoid and acquired skin diseases on the human skin
and mucosae assume a characteristic morphological pattern following the Blaschko
lines. This pattern recognition is important for dermatologists so as to ...
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[PDF] CLINICAL AND GENETIC SIGNIFICANCE OF UNILATERAL


L NODULES - Bull. Soc. belge Ophtalmol, 2005 - ophthalmologia.be
CEUTERICK SD*, VAN DEN ENDE JJ**, SMETS RME* ... ABSTRACT Purpose: Bilateral
Lisch nodules are highly charac- teristic for neurofibromatosis type 1 (NF1). We
wished to study the clinical and genetic implications of uni- lateral Lisch ...
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Journal List> Available Issues> Table of Contents> Abs+ Ref


CW Bae, JH Kwon, YH Kim, TY Jung, JH Cho - J Korean Acad Nurs, 2008 - synapse.koreamed.org
The purpose of this study was to identify the causal relationship of familial
factors (parental acceptance, autonomy, and family satisfaction), social support
(teacher's support and friend's support), school achievement, self-concept, ...
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Neurofibromatosis-1


AA Dahl, RJ Grostern - members.medscape.com
Neurofibromatosis-1 is a progressive genetic disease best known for its
heterogeneity and variability. Neurofibromatosis-1 can manifest in many
different ways in many different tissues within the same person and among ...
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Molecular Imaging of Retinal Gliosis in Transgenic Mice Induced by Kainic Acid …


G Ho, S Kumar, XS Min, YL Kng, MY Loh, S … - Investigative Ophthalmology & Visual Science, 2009 - ARVO
RESULTS. The authors demonstrated that KA-induced gliosis (an elevation in GFP
fluorescence intensity [FI]) could be noninvasively detected starting on day 3
and that it peaked on day 7, as quantified for the optic disc astrocytes. A ...
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[CITATION] Plexiform neurofibroma masquerading as a persistent chalazion-a case report.


A Tey, PP Kearns, AD Barr - Eye (London, England), 2006 - ncbi.nlm.nih.gov
1: Eye. 2006 Aug;20(8):946-8. Epub 2005 Aug 19. Plexiform neurofibroma masquerading
as a persistent chalazion-a case report. Tey A, Kearns PP, Barr AD. ...
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