Results 111 to 120 of about 55,411 (257)

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis. [PDF]

Genet Med, 2023
Banerjee J, Friedman JM, Klesse LJ, Yohay KH, Jordan JT, Plotkin SR, Allaway RJ, Blakeley JO.   +7 more
europepmc   +1 more source

Characterizing the immune microenvironment of malignant peripheral nerve sheath tumor by PD-L1 expression and presence of CD8+ tumor infiltrating lymphocytes. [PDF]

, 2016
BackgroundMalignant peripheral nerve sheath tumor (MPNST) is an aggressive sarcoma with few treatment options. Tumor immune state has not been characterized in MPNST, and is important in determining response to immune checkpoint blockade.
Bernthal, Nicholas, Chmielowski, Bartosz, Crompton, Joseph G, Dry, Sarah, Eilber, Fritz C, Federman, Noah, Jensen, Sarah, Li, Yunfeng, Nelson, Scott, Shurell, Elizabeth, Singh, Arun S, Tumeh, Paul   +11 more
core   +2 more sources

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

NEUROFIBROMATOSIS TIPO I

Medicentro, 2011
La neurofibromatosis (NF) es un trastorno hereditario caracterizado por la formación de neurofibromas (tumores que involucran al tejido nervioso) en la piel, tejido subcutáneo, nervios craneales y los nervios de la base de la columna vertebral1,2 ...
Teresa de los A. Casanova Rodríguez, Cecilio González Benavides, Sergio A. Rodríguez Jiménez   +2 more
doaj  

Neurofibromatosis 2: Primary Modality of Hearing Rehabilitation with Cochlear Implant. [PDF]

Indian J Otolaryngol Head Neck Surg, 2021
Halyur DA, Rayanagoudar PH, Kumar A, Dutt SN.   +3 more
europepmc   +1 more source

Validation of the German version of Infants and Toddlers Dermatology Quality of Life (InToDermQoL) Questionnaire

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler, Neuza da Silva Burger, Matthias Augustin, Hagen Ott, Sanna Hoffmann, Regina Fölster‐Holst, Maria Baumeister, Petra Staubach, Rachel Sommer   +8 more
wiley   +1 more source

The German version of the neurofibromatosis 2 impact on quality of life questionnaire correlates with severity of depression and physician-reported disease severity. [PDF]

Orphanet J Rare Dis, 2023
Lawson McLean AC, Freier A, Lawson McLean A, Kruse J, Rosahl S.   +4 more
europepmc   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Prospective phase II trial of the dual mTORC1/2 inhibitor vistusertib for progressive or symptomatic meningiomas in persons with neurofibromatosis 2. [PDF]

Neurooncol Adv, 2023
Jordan JT, Orr CC, Thalheimer RD, Cambillo JV, Beauchamp RL, Shaikh G, Muzikansky A, Stemmer-Rachamimov A, Giovannini M, Kalamarides M, Barker FG, Ramesh V, Plotkin SR.   +12 more
europepmc   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source