Results 131 to 140 of about 67,096 (237)

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional studyCapsule Summary

JAAD International
Background: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder characterized by NF1 gene mutations. The well-described manifestations of NF1 are primarily derived from European populations.
Zhichao Wang, MD, Xing Hu, MD, PhD, Haoyang Mo, MD, Minxue Shen, PhD, Carlos G. Romo, MD, PhD, Katya Vera, BA, Zhixiong Liu, MD, PhD, Qingfeng Li, MD, PhD, Chuntao Li, MD, PhD, Kavita Y. Sarin, MD, PhD   +9 more
doaj   +1 more source

Chronic Myeloid Leukemia Presenting With T‐Lymphoid Blast Crisis in a Young Female With Marked Hyperleukocytosis: A Case Report

eJHaem, Volume 7, Issue 2, April 2026.
Abstract Background Chronic myeloid leukemia (CML) presenting in blast crisis (BC) is uncommon in the era of tyrosine kinase inhibitor (TKI) treatment, and T‐lymphoblastic BC is exceptionally rare. We report a case of T‐lymphoid BC presenting with extreme hyperleukocytosis.
E. Somasundaram, R. P. Hasserjian, B. J. Aubrey, A. T. Fathi, H. Hock   +4 more
wiley   +1 more source

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source

Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]

, 2017
Anastasaki, Corina, Gutmann, David H, Kesterson, Robert A, Le, Lu Q   +3 more
core   +2 more sources

Detection of Copy‐Number Variations in CNS Tumours From Off‐Target Reads of Hybrid‐Capture Sequencing

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
Off‐target sequencing reads from small hybrid‐capture NGS panels can be leveraged to reconstruct genome‐wide copy number variation (CNV) profiles in CNS tumours. Across diverse tumour types, CNV profiles derived from off‐target reads show high concordance with methylation array data and reliably detect clinically relevant arm‐level alterations ...
Jan Schnorrenberg, Yannis Luca Adrian, Judith Schlathölter, Christian Ruckert, Judit Horvath, Werner Paulus, Martin Hasselblatt, Christian Thomas   +7 more
wiley   +1 more source

Plexiform neurofibroma

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Francisco Martins, Ana Carolina Figueiredo   +1 more
wiley   +1 more source

Electrospun Nanofibres for Load‐Bearing Composite Materials—A Review of Techniques, Mechanical Properties and Durability

Polymer Composites, Volume 47, Issue 5, Page 3917-3945, 10 March 2026.
Electrospun nanofibre for load‐bearing composite materials. ABSTRACT Electrospun nanofibres are emerging nanomaterials prized for their scalability, high surface area to volume ratio and yield. Their effectiveness in improving the mechanical properties of fiber reinforced composites is widely reported. Nanofibres could activate multiscale toughness and
Usaid Ahmed Shakil, Petr Hájek
wiley   +1 more source

Integrative Genomic Profiling of Pediatric Solid Tumors Reveals Clinically Relevant Variants and Chromosomal Arm Aneuploidies Signatures

Cancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Background Pediatric malignancies have emerged as the leading cause of disease‐related mortality in children, exhibiting distinct etiological and molecular characteristics compared to adult cancers. Despite advances in genomic profiling, the molecular landscape of pediatric solid tumors, particularly in Chinese populations, remains ...
Bingxiao Yan, Jinhu Wang, Jieni Xiong, Shuangai Liu, Yinbing Tang, Ziqi He, Hujin Yan, Bize Guo, Chen Chen, Yijie Zhang, Qinfang Zhu, Jiabin Cai, Min He, Xuan Wu, Junqing Mao, Lifeng Zhang, Weizhong Gu, Zhu Zhu, Zheming Li, Rui Xiao, Qiang Shu, Gang Yu, Ting Tao   +22 more
wiley   +1 more source

Pheochromocytoma With Langerhans Cell Histiocytosis: A Rare Tumor‐in‐Tumor Case

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Langerhans cell histiocytosis (LCH) occurring in a Pheochromocytoma in the adrenal gland is exceptionally rare and prone to misdiagnosis. The special coexistent tumors harbor distinct genetic mutations. This uncommon case could introduce novel considerations and a strong teaching message to all the clinicians and pathologists.
Cheng Lei, Yulong Guo, Yixin Luo, Qingchun Liang, Jiadi Luo   +4 more
wiley   +1 more source

Unraveling a Hidden Mass: A 10‐Year Mystery of Groin Swelling Reveals an Unexpected Diagnosis of Neurofibroma

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Unravelling a Hidden Mass: Case of 70‐year‐old female presenting with 10‐year history of painless groin swelling. Intraoperative discovery revealed an unexpected neurofibroma. ABSTRACT This case presents the perplexing journey of a 70‐year‐old woman with a decade‐long history of painless, gradually enlarging left‐side groin swelling.
Alaa Tajeldeen Habeeb Abdallah, Zainab Hassan Nooreldayem, Rami Elsiddig Abdelkhalig, Elwasila Hamid, Nouh Saad Mohamed, Ayman Ahmed, Emmanuel Edwar Siddig   +6 more
wiley   +1 more source