Neurofibromatosis. The importance of localized or otherwise atypical forms

Riccardi, Vincent M.

doi:10.1001/archderm.123.7.882

Cited by 8 publications

(7 citation statements)

References 5 publications

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“…We assembled a large dataset of publicly-available blood-derived methylomes from 19 genome-wide methylation array studies, obtained from blood samples in a variety of ages and scenarios 2,[21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37] .…”

Section: A Dataset Of 11910 Blood-derived Methylomes Of Healthy Donor...mentioning

confidence: 99%

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Accurate age prediction from blood using of small set of DNA methylation sites and a cohort-based machine learning algorithm

Varshavsky

Harari

Gläser

et al. 2023

Preprint

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Chronological age prediction from DNA methylation sheds light on human aging, indicates poor health and predicts lifespan. Current clocks are mostly based on linear models from hundreds of methylation sites, and are not suitable for sequencing-based data. We present GP-age, an epigenetic clock for blood, that uses a non-linear cohort-based model of 11,910 blood methylomes. Using 30 CpG sites alone, GP-age outperforms state-of-the-art models, with a median accuracy of ~2 years on held-out blood samples, for both array and sequencing-based data. We show that aging-related changes occur at multiple neighboring CpGs, with far-reaching implications on aging research at the cellular level. By training three independent clocks, we show consistent deviations between predicted and actual age, suggesting individual rates of biological aging. Overall, we provide a compact yet accurate alternative to array-based clocks for blood, with future applications in longitudinal aging research, forensic profiling, and monitoring epigenetic processes in transplantation medicine and cancer.

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Section: A Dataset Of 11910 Blood-derived Methylomes Of Healthy Donor...mentioning

confidence: 99%

“…The train and the test sets show similar age distributions across all datasets. All methylomes were used as published, following their original preprocessing and normalization by various methods 2,[21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37] .…”

Section: A Dataset Of 11910 Blood-derived Methylomes Of Healthy Donor...mentioning

confidence: 99%

Accurate age prediction from blood using of small set of DNA methylation sites and a cohort-based machine learning algorithm

Varshavsky

Harari

Gläser

et al. 2023

Preprint

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“…Neurofibromatosis (NF) is a heterogeneous disease presenting a wide spectrum of hamartomatous and neoplastic lesions involving neural crest derivatives (5). Riccardi classified NF into eight clinical variants.…”

Section: Commentsmentioning

confidence: 99%

Regional Eruptive Neurofibromas

Betti¹,

Cerri²,

Gualandri³

et al. 1997

The Journal of Dermatology

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A 71-year-old woman presented with multiple, flesh-colored, papular lesions on the left dorsal side of the hand which had erupted 5 years earlier. No cafè-au-lait spots, freckles, or Lisch nodules were detected. Family history did not disclose neurofibromas or abnormal pigmentation. Two biopsy specimens of the lesions showed circumscribed, non-encapsulated neurofibromas. Segmental neurofibromatosis is characterized by the unilateral, segmental appearance of neurofibromas and/or cafè-au-lait spots in the absence of genetic transmission. The authors discuss the significance of localized multiple cutaneous neurofibromas in the absence of family history and suggest the possibility of a cutaneous hamartoma.

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“…If an evaluation neither confirms nor discounts NF-I, the situation is much more complex. However, rather than try to consider all logical possibilities, I will focus on one not uncommon predicament: one member of a couple contemplating or in the midst of a pregnancy has segmental NF-NF-5 as designated by Riccardi (22)-or perhaps some other form of localized NF (21). Since there is precedent for such an individual to have one or more offspring with NF-I (4), this situation represents a dilemma.…”

Section: Clinical Genetic Considerationsmentioning

confidence: 99%

The Prenatal Diagnosis of NF‐1 and NF‐2

Riccardi¹

1992

The Journal of Dermatology

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Neurofibromatosis. The importance of localized or otherwise atypical forms

Cited by 8 publications

References 5 publications

Accurate age prediction from blood using of small set of DNA methylation sites and a cohort-based machine learning algorithm

Accurate age prediction from blood using of small set of DNA methylation sites and a cohort-based machine learning algorithm

Regional Eruptive Neurofibromas

The Prenatal Diagnosis of NF‐1 and NF‐2

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