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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1986 1
1988 1
1989 3
1990 1
1991 1
1992 1
1994 1
1995 3
1998 2
1999 3
2000 4
2002 3
2003 2
2004 4
2005 1
2006 3
2007 2
2008 5
2009 2
2010 2
2011 2
2012 6
2013 5
2014 1
2015 2
2016 5
2017 3
2018 3
2019 5
2020 1
2021 2
2022 2
2023 1
2024 3

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77 results

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Page 1
Xeroderma Pigmentosum.
Black JO. Black JO. Head Neck Pathol. 2016 Jun;10(2):139-44. doi: 10.1007/s12105-016-0707-8. Epub 2016 Mar 14. Head Neck Pathol. 2016. PMID: 26975629 Free PMC article. Review.
Patients with XP frequently experience a shorter life span due to skin cancer and neurodegenerative sequelae, but aggressive preventative measures to minimize UV radiation exposure and damage can improve the course of disease and prolong life. The disease has served as a m …
Patients with XP frequently experience a shorter life span due to skin cancer and neurodegenerative sequelae, but aggressive preventative me …
Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement.
Alves Júnior SF, Zanetti G, Alves de Melo AS, Souza AS Jr, Souza LS, de Souza Portes Meirelles G, Irion KL, Hochhegger B, Marchiori E. Alves Júnior SF, et al. Respir Med. 2019 Mar;149:9-15. doi: 10.1016/j.rmed.2019.01.002. Epub 2019 Jan 17. Respir Med. 2019. PMID: 30885426 Free article. Review.
Currently, the goal of NF-DLD treatment is the earliest possible diagnosis, focusing on symptom relief and interventions that positively alter the course of the disease, such as smoking cessation. The aim of this review is to describe the main clinical, pathological, and i …
Currently, the goal of NF-DLD treatment is the earliest possible diagnosis, focusing on symptom relief and interventions that positively alt …
Peutz-Jeghers syndrome: clinicopathology and molecular alterations.
McGarrity TJ, Amos C. McGarrity TJ, et al. Cell Mol Life Sci. 2006 Sep;63(18):2135-44. doi: 10.1007/s00018-006-6080-0. Cell Mol Life Sci. 2006. PMID: 16952058 Free PMC article. Review.
Identification of specific genetic mutations and their targets will more accurately assess the clinical course, and help gage the magnitude of cancer risk for affected individuals....
Identification of specific genetic mutations and their targets will more accurately assess the clinical course, and help gage the mag …
Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas.
Helfferich J, Nijmeijer R, Brouwer OF, Boon M, Fock A, Hoving EW, Meijer L, den Dunnen WF, de Bont ES. Helfferich J, et al. Crit Rev Oncol Hematol. 2016 Aug;104:30-41. doi: 10.1016/j.critrevonc.2016.05.008. Epub 2016 May 21. Crit Rev Oncol Hematol. 2016. PMID: 27263935 Free article. Review.
The focus of this review is on grade I pilocytic astrocytomas (PAs), the most commonly observed histologic subtype of low grade gliomas in NF1. Clinically, these PAs have a better prognosis and show different localisation patterns than their sporadic counterparts, which ar …
The focus of this review is on grade I pilocytic astrocytomas (PAs), the most commonly observed histologic subtype of low grade gliomas in N …
Development and inter-laboratory evaluation of the VISAGE Enhanced Tool for Appearance and Ancestry inference from DNA.
Xavier C, de la Puente M, Mosquera-Miguel A, Freire-Aradas A, Kalamara V, Ralf A, Revoir A, Gross TE, Schneider PM, Ames C, Hohoff C, Phillips C, Kayser M, Parson W; VISAGE Consortium. Xavier C, et al. Forensic Sci Int Genet. 2022 Nov;61:102779. doi: 10.1016/j.fsigen.2022.102779. Epub 2022 Sep 24. Forensic Sci Int Genet. 2022. PMID: 36182793 Free article.
Responding to the growing scientific and practical interest in forensic DNA phenotyping, the VISible Attributes through GEnomics (VISAGE) Consortium was founded in 2017 with the main goal of developing and validating new and reliable molecular and statistical tools to predict …
Responding to the growing scientific and practical interest in forensic DNA phenotyping, the VISible Attributes through GEnomics (VISAGE) Co …
Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches.
Zaorska K, Zawierucha P, Nowicki M. Zaorska K, et al. Hum Genet. 2019 Jun;138(6):635-647. doi: 10.1007/s00439-019-02012-w. Epub 2019 Apr 12. Hum Genet. 2019. PMID: 30980179 Free PMC article.
We compared three different algorithms: General Linear Model based on logistic regression, Random Forest and Neural Network in 18 developed prediction models. We demonstrate Random Forest to be the most accurate algorithm for 3- and 4-category estimations (total of 58.3% c …
We compared three different algorithms: General Linear Model based on logistic regression, Random Forest and Neural Network in 18 developed …
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Forde C, Burkitt-Wright E, Turnpenny PD, Haan E, Ealing J, Mansour S, Holder M, Lahiri N, Dixit A, Procter A, Pacot L, Vidaud D, Capri Y, Gerard M, Dollfus H, Schaefer E, Quelin C, Sigaudy S, Busa T, Vera G, Damaj L, Messiaen L, Stevenson DA, Davies P, Palmer-Smith S, Callaway A, Wolkenstein P, Pasmant E, Upadhyaya M. Forde C, et al. Eur J Hum Genet. 2022 Mar;30(3):291-297. doi: 10.1038/s41431-021-01015-4. Epub 2021 Dec 13. Eur J Hum Genet. 2022. PMID: 34897289 Free PMC article.
Knowledge of this genotype-phenotype association is fundamental to accurate prognostication for families and caregivers....
Knowledge of this genotype-phenotype association is fundamental to accurate prognostication for families and caregivers....
Sun damage in ultraviolet photographs correlates with phenotypic melanoma risk factors in 12-year-old children.
Gamble RG, Asdigian NL, Aalborg J, Gonzalez V, Box NF, Huff LS, Barón AE, Morelli JG, Mokrohisky ST, Crane LA, Dellavalle RP. Gamble RG, et al. J Am Acad Dermatol. 2012 Oct;67(4):587-97. doi: 10.1016/j.jaad.2011.11.922. Epub 2012 Mar 9. J Am Acad Dermatol. 2012. PMID: 22406230 Free PMC article.
Results were similar for standard visible and cross-polarized photographs. Freckling was the strongest predictor of sun damage in visible and UV photographs. All other phenotypic melanoma risk factors were also predictors for the UV photographs. ...
Results were similar for standard visible and cross-polarized photographs. Freckling was the strongest predictor of sun damage in vis …
77 results