Neurocutaneous Syndromes

Neurocutaneous syndromes include congenital disorders involving tumor growth in the brain, spinal cord, organs, skin, and bones. These syndromes include tuberous sclerosis, neurofibromatosis, and Sturge-Weber disease. Find the latest research on neurocutaneous syndromes here.

October 20, 2021
Preprint
Open Access

A Tissue-Bioengineering Strategy for Modeling Rare Human Kidney Diseases In Vivo

BioRxiv : the Preprint Server for Biology
J. HernandezDario R Lemos
October 17, 2021
Preprint
Open Access

Structure of the human ATM kinase and mechanism of Nbs1 binding

BioRxiv : the Preprint Server for Biology
C. Warren, Nikola P Pavletich
October 17, 2021
Preprint
Open Access

Tuberin levels during cellular differentiation in brain development

BioRxiv : the Preprint Server for Biology
B. Abu KhatirLisa A. Porter
October 17, 2021

Outcomes and lessons learned from two decades' experience with glaucoma drainage device implantation for refractory Sturge Weber-associated childhood glaucoma.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Tanya S GlaserSharon F Freedman
October 16, 2021
Review

Heritable disorders of oxygen sensing.

American Journal of Medical Genetics. Part a
Gregg L Semenza
October 15, 2021

Long-term Follow-up and Histological Correlation of Peripheral Nervous System Alterations in Neurofibromatosis Type 2.

Clinical Neuroradiology
Tim GodelVictor-Felix Mautner
October 15, 2021
Case Report

Rapid upper airway obstruction after arteriovenous malformation rupture in a patient with neurofibromatosis.

Anaesthesia Reports
A DavidsonA Hunningher
October 15, 2021

Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.

Cold Spring Harbor Molecular Case Studies
Timothy E GreenMichael S Hildebrand
October 15, 2021
Case Report

Endovascular repair for abdominal aortic aneurysm rupture with neurofibromatosis type 1.

Annals of Vascular Surgery
Shingo NakaiTomonori Ochiai
October 15, 2021
Review

Systemic review and meta-analysis of the intellectual integrity of children with Neurofibromatosis type 1 (NF-1).

World Neurosurgery
Faris Abdullah Hamed Al-FarsiTariq Al-Saadi
October 15, 2021

Clinical presentation of simple and combined or syndromic arteriovenous malformations.

Journal of Vascular Surgery. Venous and Lymphatic Disorders
Sarah M BernhardIris Baumgartner
October 14, 2021
Preprint
Open Access

Neuroanatomical correlates of working memory performance in Neurofibromatosis 1

MedRxiv : the Preprint Server for Health Sciences
Cameron SawyerS. Garg
October 15, 2021

Secretome analysis of human schwann cells derived from malignant peripheral nerve sheath tumor.

Proteomics
Aysha FerdoushiHubert Hondermarck
October 15, 2021
Case Report

A Unique Case of Sporadic Optic Pathway Glioma in an Infant With Acute Nystagmus.

Curēus
Colton T KnightTodd Standley
October 15, 2021
Open Access

Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors.

Sarcoma
Daniel K KnewitzMargaret R Wallace
October 14, 2021

A Tale of Two Checkpoints: ATR Inhibition and PD-(L)1 Blockade.

Annual Review of Medicine
Natalie Y L NgoiTimothy A Yap

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