Robert Listernick

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

Jenny Paola Garzón-Hernández, Andrea Patete, Lindsey Aschbacher‐Smith, Dima Qu’d et autres

Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart …

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Neurocognitive Manifestations of Individuals with NF1 Microdeletions (P14-9.007)

Jenny Garzon, Andrea Patete, Carolyn Serbinski, Madison Hankins et autres

Objective: To describe the neurocognitive manifestations in patients with NF1 microdeletion syndromes. Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome that affects 1 in 2500–3000 people. About 5–11% of NF1 patients have NF1 microdeletion syndrome, historically associated with …

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Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1

Scott R. Plotkin, Stephanie D. Davis, Kent A. Robertson, Srivandana Akshintala et autres

OBJECTIVE: Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%-50% of individuals with neurofibromatosis type 1 (NF1). PNs that cause airway compromise or pulmonary dysfunction are uncommon but clinically important. Because improvement in sleep quality or airway …

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Current status and recommendations for biomarkers and biobanking in neurofibromatosis

C. Oliver Hanemann, Jaishri O. Blakeley, Fabio P. Nunes, Kent A. Robertson et autres

OBJECTIVE: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group's goals are to (1) define biomarker needs in NF1, NF2, and SWN; (2) summarize existing data on biomarkers …

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Strabismus in patients with neurofibromatosis type 1–associated optic pathway glioma

Reut Parness-Yossifon, Robert Listernick, Joel Charrow, Heath W. Barto et autres

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A Well-Appearing 5-Year-Old Girl with Heart Murmur and Hypertension

Robert Listernick

A 13-Year-Old Boy with Pancytopenia and a Sacrococcygeal Abscess

Robert Listernick

A 7-Day-Old Infant with Jaundice and Thrombocytopenia

Robert Listernick

A 12-Month-Old Boy with Failure to Gain Weight

Robert Listernick

A 4-Year-Old Boy with Pain in His Left Shoulder

Robert Listernick

Apreviously healthy 4-year-old boy presented with left shoulder pain. Two nights prior to admission he was sleeping in bed with his grandmother and awoke complaining that his left arm hurt. Although he went to school the next day, he left early due …

A 15-Year-Old Obese Girl with Abdominal Pain

Robert Listernick

A 15-Year-Old Girl with Weakness, Fatigue, Chest Pain, and Headaches

Robert Listernick