Publications by authors named "Fran Annese"

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MECP2 Variants in Males: More Common than Previously Appreciated.
Amitha Ananth, Cary Fu, Jeffrey L Neul, Tim Benke, Eric Marsh, Fran Annese

Pediatr Neurol· December 2024

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MEF2C regulates NK cell effector functions through control of lipid metabolism.
Joey H Li, Adalia Zhou, Cassidy D Lee, Siya N Shah, Jeong Hyun Ji, Fran Annese

Nat Immunol· May 2024

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Author Correction: MEF2C regulates NK cell effector functions through control of lipid metabolism.
Joey H Li, Adalia Zhou, Cassidy D Lee, Siya N Shah, Jeong Hyun Ji, Fran Annese

Nat Immunol· May 2024

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Parental age effects and Rett syndrome.
Xiaolan Fang, Lauren M Baggett, Raymond C Caylor, Alan K Percy, Jeffrey L Neul, Fran E Annese

Am J Med Genet A· February 2024

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Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Jessica A Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese

Am J Med Genet A· October 2022

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Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
Kathleen J Motil, Suzanne Geerts, Fran Annese, Jeffrey L Neul, Tim Benke

J Pediatr· May 2022

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Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
Addison Neighbors, Tonya Moss, Lynda Holloway, Seok-Ho Yu, Fran Annese

Mol Genet Genomic Med· March 2020

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Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
Jeffrey L Neul, Steven A Skinner, Fran Annese, Jane Lane, Peter Heydemann

Front Integr Neurosci· February 2020

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Biliary Tract Disease in Girls and Young Women With Rett Syndrome.
Kathleen J Motil, Jane B Lane, Judy O Barrish, Fran Annese, Suzanne Geerts

J Pediatr Gastroenterol Nutr· June 2019

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When Rett syndrome is due to genes other than .
Alan K Percy, Jane Lane, Fran Annese, Hannah Warren, Steven A Skinner

Transl Sci Rare Dis· April 2018

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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Samin A Sajan, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Fran Annese

Genet Med· January 2017

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Fran Annese

Hum Mutat· August 2016

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Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.
Daniel C Tarquinio, Wei Hou, Jeffrey L Neul, Jane B Lane, Katherine V Barnes, Fran Annese

Pediatr Neurol· June 2015

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Developmental delay in Rett syndrome: data from the natural history study.
Jeffrey L Neul, Jane B Lane, Hye-Seung Lee, Suzanne Geerts, Judy O Barrish, Fran Annese

J Neurodev Disord· July 2014

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Growth failure and outcome in Rett syndrome: specific growth references.
Daniel Charles Tarquinio, Kathleen J Motil, Wei Hou, Hye-Seung Lee, Daniel G Glaze, Fran Annese

Neurology· October 2012

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Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome.
Kathleen J Motil, Erwin Caeg, Judy O Barrish, Suzanne Geerts, Jane B Lane, Fran Annese

J Pediatr Gastroenterol Nutr· September 2012

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Vitamin D deficiency is prevalent in girls and women with Rett syndrome.
Kathleen J Motil, Judy O Barrish, Jane Lane, Suzanne P Geerts, Fran Annese

J Pediatr Gastroenterol Nutr· November 2011

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Rett syndrome diagnostic criteria: lessons from the Natural History Study.
Alan K Percy, Jeffrey L Neul, Daniel G Glaze, Kathleen J Motil, Steven A Skinner, Fran Annese

Ann Neurol· December 2010

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Profiling scoliosis in Rett syndrome.
Alan K Percy, Hye-Seung Lee, Jeffrey L Neul, Jane B Lane, Steven A Skinner, Fran Annese

Pediatr Res· April 2010

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Longevity in Rett syndrome: analysis of the North American Database.
Russell S Kirby, Jane B Lane, Jerry Childers, Steve A Skinner, Fran Annese

J Pediatr· January 2010

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Rett syndrome: North American database.
Alan K Percy, Jane B Lane, Jerry Childers, Steve Skinner, Fran Annese

J Child Neurol· December 2007

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