P112: Phenotype prediction using cell-free DNA fragmentation as a predictor of clinical severity in neurofibromatosis type 1 (NF1)

P112: Phenotype prediction using cell-free DNA fragmentation as a predictor of clinical severity in neurofibromatosis type 1 (NF1)

Saved in:

Bibliographic Details
Main Authors:	Maha Tageldein, Derek Wong, Julia Sobotka, Carolina Barnett-Tapia, Hamid Sadeghian, Emily Thain, Katharine Cardiff, Particia Parkin, Raymond Kim, Trevor Pugh
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425009951
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Neurofibromatosis tipo 1 (NF1) o enfermedad de Von Recklinghausen
by: Sergio A. Arbeláez Eslait, et al.
Published: (2020-08-01)

Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1
by: A. M. Zaidman, et al.
Published: (2010-12-01)

Analysis of mutations of NF1 gene in three patients with neurofibromatosis type I
by: LIN Yanyan, et al.
Published: (2024-12-01)

Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency
by: Sara Domingues, et al.
Published: (2014-01-01)

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis
by: Tao Lin, et al.
Published: (2025-05-01)

Ruptured visceral artery aneurysms in a patient of neurofibromatosis type 1 (NF-1) successfully treated by endovascular treatment
by: Naoko Fukushima, et al.
Published: (2020-01-01)

Generation of an induced pluripotent stem cell line from a type 1 neurofibromatosis patient with NF1 mutation
by: Hongmei Xin, et al.
Published: (2024-12-01)

Identification of a novel NF1 deletion variant in a Taiwanese boy with neurofibromatosis type 1-associated Moyamoya syndrome
by: Yung-Yu Yang, et al.
Published: (2023-03-01)

Tourette’s Syndrome and Neurofibromatosis 1
by: J Gordon Millichap
Published: (2000-09-01)

The 22nd meeting of COOMET TC 1.12 “Reference Materials” (COOMET TC 1.12 “RMs”)
by: article Editorial
Published: (2017-11-01)

Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.
by: Lennart Well, et al.
Published: (2021-05-01)

Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia
by: Şule Altıner, et al.
Published: (2024-10-01)

Clinical Masks of Neurofibromatosis Type 1
by: R. N. Mustafin
Published: (2022-03-01)

Neurofibromatosis tipos 1 y 2
by: María Florencia Correa, et al.
Published: (2025-03-01)

Learning Disabilities in Neurofibromatosis Type 1
by: J Gordon Millichap
Published: (2006-12-01)

Lisch Nodules in Neurofibromatosis Type 1
by: J Gordon Millichap
Published: (1991-06-01)

MRI Analysis of Neurofibromatosis Type 1
by: J Gordon Millichap
Published: (1998-04-01)

Vascular Abnormalties in Neurofibromatosis Type 1
by: J Gordon Millichap
Published: (2005-03-01)

Treatment of ADHD in Neurofibromatosis Type 1
by: J Gordon Millichap
Published: (2002-04-01)

Glaucoma secundario a neurofibromatosis tipo-1
by: Anay Martínez Díaz, et al.
Published: (2012-02-01)

Autonomic thermoregulatory dysfunction in neurofibromatosis type 1
by: Luciana G Madeira, et al.

Lung parenchima changes in neurofibromatosis type 1
by: Ilić Aleksandra, et al.
Published: (2016-01-01)

Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma
by: Carlen A. Yuen, et al.
Published: (2025-07-01)

Cognition and behavior in adults with neurofibromatosis type 1
by: Anja Bos-Roubos, et al.
Published: (2024-11-01)

Coexistence of Ankylosing Spondylitis and Neurofibromatosis Type 1
by: Baris Gundogdu, et al.
Published: (2016-01-01)

Prospects for the use of statins in the treatment of neurofibromatosis type 1
by: R. N. Mustafin
Published: (2022-10-01)

Clinical Characteristics of Neurofibromatosis Type 1 in the Republic of Bashkortostan
by: R. N. Mustafin
Published: (2025-05-01)

Recent advances of epilepsy associated with neurofibromatosis type 1
by: Ying Ren, et al.
Published: (2025-08-01)

A case of appendiceal ganglioneuroma in neurofibromatosis type 1
by: Tadaaki Shimizu, et al.
Published: (2021-09-01)

Immune system changes in the pathogenesis of neurofibromatosis type 1
by: R. N. Mustafin
Published: (2022-01-01)

Prospects for diagnostics and treatment of neurofibromatosis type 1 in Russia
by: R. N. Mustafin
Published: (2023-06-01)

Neurofibromatosis type 1 and its complication – plexiform neurofibromas
by: article Editorial
Published: (2023-06-01)

Unraveling the development of cutaneous neurofibromas in neurofibromatosis type 1
by: Pernelle Pulh, et al.
Published: (2025-07-01)

Neurofibromatosis Type 1 and Diabetes Mellitus: An Unusual Association
by: Bayram Ozhan, et al.
Published: (2013-01-01)

Oncologic manifestations in children with neurofibromatosis type 1 in Turkey
by: Faruk İncecik, et al.
Published: (2013-06-01)

Amusia and its electrophysiological correlates in neurofibromatosis type 1
by: Bruno Cézar Lage Cota, et al.

The role of epigenetic factors in the pathogenesis of neurofibromatosis type 1
by: R. N. Mustafin, et al.
Published: (2017-10-01)

Adaptive Behavior in Young Children with Neurofibromatosis Type 1
by: Bonita P. Klein-Tasman, et al.
Published: (2013-01-01)

Generation of a zebrafish neurofibromatosis model via inducible knockout of nf2a/b
by: Ayyappa Raja Desingu Rajan, et al.
Published: (2024-12-01)

Phase 1a dose escalation study of ivonescimab (AK112/SMT112), an anti-PD-1/VEGF-A bispecific antibody, in patients with advanced solid tumors
by: Wenjing Wang, et al.
Published: (2024-04-01)