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101

Optimization of protocols for detection of de novo protein synthesis in whole blood samples via azide-alkyne cycloaddition

Bowling, Heather L., Kasper, Amanda, Patole, Chhaya, Venkatasubramani, Janani Priya, Leventer, Sarah Parker, Carmody, Erin, Sharp, Kevin, Berry-Kravis, Elizabeth, Kirshenbaum, Kent, Klann, Eric, Bhatt

Journal:

Journal of Proteome Research

Year:

2020

File:

PDF, 1.75 MB

2020

102

Epilepsy in fragile X syndrome

Elizabeth Berry-Kravis

Journal:

Developmental Medicine & Child Neurology

Year:

2002

Language:

english

File:

PDF, 54 KB

english, 2002

103

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): Kindred disorders of autonomic regulation

Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Isabella Ceccherini, Casey M. Rand

Journal:

Respiratory Physiology & Neurobiology

Year:

2008

Language:

english

File:

PDF, 586 KB

english, 2008

104

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

Sébastien Jacquemont, Randi J. Hagerman, Maureen Leehey, Jim Grigsby, Lin Zhang, James A. Brunberg, Claudia Greco, Vincent Des Portes, Tristan Jardini, Richard Levine, Elizabeth Berry-Kravis, W. Ted B

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 426 KB

english, 2003

105

P3-131 Risk factors for conversion from mild cognitive impairment to Alzheimer's disease

Aggarwal, Neelum, Wilson, Robert, Bienias, Julia L., Berry-Kravis, Elizabeth, Evans, Denis A., Bennett, David A.

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 160 KB

english, 2004

106

Fragile X Syndrome in a Normal IQ Male with Learning and Emotional Problems

Merenstein, Scott A., Shyu, Vivian, Sobesky, William E., Staley, Louise, Berry-Kravis, Elizabeth, Nelson, David L., Lugenbeel, Kellie A., Taylor, Annette K., Pennington, Bruce F., Hagerman, Randi J.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

1994

Language:

english

File:

PDF, 4.49 MB

english, 1994

107

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome

Weese-Mayer, Debra E., Berry-Kravis, Elizabeth M., Ceccherini, Isabella, Keens, Thomas G., Loghmanee, Darius A., Trang, Ha

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2010

Language:

english

File:

PDF, 958 KB

english, 2010

108

Facial Phenotype in Children and Young Adults with PHOX2B–Determined Congenital Central Hypoventilation Syndrome: Quantitative Pattern of Dysmorphology

Todd, Emily S, Weinberg, Seth M, Berry-Kravis, Elizabeth M, Silvestri, Jean M, Kenny, Anna S, Rand, Casey M, Zhou, Lili, Maher, Brion S, Marazita, Mary L, Weese-Mayer, Debra E

Journal:

Pediatric Research

Year:

2006

Language:

english

File:

PDF, 1.27 MB

english, 2006

109

Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

O’Keefe, Joan A., Robertson-Dick, Erin, Dunn, Emily J., Li, Yan, Deng, Youping, Fiutko, Amber N., Berry-Kravis, Elizabeth, Hall, Deborah A.

Journal:

Year:

2015

Language:

english

File:

PDF, 666 KB

english, 2015

110

Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation

Nayar, Kritika, McKinney, Walker, Hogan, Abigail L., Martin, Gary E., La Valle, Chelsea, Sharp, Kevin, Berry-Kravis, Elizabeth, Norton, Elizabeth S., Gordon, Peter C., Losh, Molly, Hadjikhani, Nouchin

Journal:

Year:

2019

Language:

english

File:

PDF, 1.08 MB

english, 2019

111

Genetic variation in the HTR1A gene and sudden infant death syndrome

Megan E. Morley, Casey M. Rand, Elizabeth M. Berry-Kravis, Lili Zhou, Wenqing Fan, Debra E. Weese-Mayer

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 62 KB

english, 2008

112

Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome

Elizabeth Berry-Kravis, Allison Sumis, Ok-Kyung Kim, Rebecca Lara, Joanne Wuu

Journal:

Journal of Autism and Developmental Disorders

Year:

2008

Language:

english

File:

PDF, 250 KB

english, 2008

113

Fragile X gene expansions are not associated with dementia

Hall, Deborah A., Bennett, David A., Filley, Christopher M., Shah, Raj C., Kluger, Benzi, Ouyang, Bichun, Berry-Kravis, Elizabeth

Journal:

Neurobiology of Aging

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

114

Sudden Infant Death Syndrome: Rare Mutation in the Serotonin System FEV Gene

Rand, Casey M, Berry-Kravis, Elizabeth M, Zhou, Lili, Fan, Wenqing, Weese-Mayer, Debra E

Journal:

Pediatric Research

Year:

2007

Language:

english

File:

PDF, 130 KB

english, 2007

115

Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor

Robertson, Erin E., Hall, Deborah A., Pal, Gian, Ouyang, Bichun, Liu, Yuanqing, Joyce, Jessica M., Berry-Kravis, Elizabeth, O'Keefe, Joan A.

Journal:

Clinical Parkinsonism & Related Disorders

Year:

2020

Language:

english

File:

PDF, 476 KB

english, 2020

116

Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome

Casey M. Rand, Debra E. Weese-Mayer, Brion S. Maher, Lili Zhou, Mary L. Marazita, Elizabeth M. Berry-Kravis

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 103 KB

english, 2006

117

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

Gabriela M Repetto, Raul J Corrales, Selim G Abara, Lili Zhou, Elizabeth M Berry-Kravis, Casey M Rand, Debra E Weese-Mayer

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 159 KB

english, 2009

118

Genetic Variation Analysis in Parkinson Disease Patients With and Without Hallucinations

Goetz, Christopher G., Burke, Paul F., Leurgans, Sue, Berry-Kravis, Elizabeth, Blasucci, Lucy M., Raman, Rema, Zhou, Lili

Journal:

Archives of Neurology

Year:

2001

Language:

english

File:

PDF, 87 KB

english, 2001

119

BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing

Vittal, Padmaja, Hall, Deborah A, Dames, Shale, Mao, Rong, Berry-Kravis, Elizabeth

Journal:

Movement Disorders Clinical Practice

Year:

2016

Language:

english

File:

PDF, 162 KB

english, 2016

120

Medication Utilization for Targeted Symptoms in Children and Adults With Fragile X Syndrome

Bailey, Donald B., Raspa, Melissa, Bishop, Ellen, Olmsted, Murrey, Mallya, Usha G., Berry-Kravis, Elizabeth

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2012

Language:

english

File:

PDF, 566 KB

english, 2012

121

The Apolipoprotein E ϵ4 Allele and Decline in Different Cognitive Systems During a 6-Year Period

Wilson, Robert S., Schneider, Julie A., Barnes, Lisa L., Beckett, Laurel A., Aggarwal, Neelum T., Cochran, Elizabeth J., Berry-Kravis, Elizabeth, Bach, Julie, Fox, Jacob H., Evans, Denis A., Bennett,

Journal:

Archives of Neurology

Year:

2002

Language:

english

File:

PDF, 116 KB

english, 2002

122

VTS-270 for the treatment of Niemann-Pick disease type C

Machielse, Bernardus N, Porter, Forbes D, Yergey, Alfred L, Berry-Kravis, Elizabeth M, Darling, Allan, Rao, Ravi

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

123

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study

Bailey, Donald B., Berry-Kravis, Elizabeth, Gane, Louise W., Guarda, Sonia, Hagerman, Randi, Powell, Cynthia M., Tassone, Flora, Wheeler, Anne

Journal:

Year:

2017

Language:

english

File:

PDF, 327 KB

english, 2017

124

The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary

Riley, Catharine, Mailick, Marsha, Berry-Kravis, Elizabeth, Bolen, Julie

Journal:

Year:

2017

Language:

english

File:

PDF, 1.64 MB

english, 2017

125

21. Auditory EEG Phenotypes in Single Gene Disorders: Insight into Heterogeneity in Idiopathic Autism

Ethridge, Lauren, Berry-Kravis, Elizabeth, Thaliath, Andrew, Isenstein, Emily, Durkin, Allison, Nelson, Charles, Baczewsi, Lauren, Powell, Craig, White, Stormi, Mosconi, Matthew, Pedapati, Ernest, Eri

Journal:

Biological Psychiatry

Year:

2018

Language:

english

File:

PDF, 62 KB

english, 2018

126

Utility of the Hebb–Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans

Boutet, Isabelle, Collin, Charles A., MacLeod, Lindsey S., Messier, Claude, Holahan, Matthew R., Berry-Kravis, Elizabeth, Gandhi, Reno M., Kogan, Cary S.

Journal:

Frontiers in Molecular Neuroscience

Year:

2018

Language:

english

File:

PDF, 1.44 MB

english, 2018

127

New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry

Elizabeth Berry-Kravis, Rong Mao, Rita Ciurlionis, Abby Adams

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 273 KB

english, 1994

128

Vagal and sympathetic heart rate and blood pressure control in adult onsetPHOX2Bmutation–confirmed congenital central hypoventilation syndrome

André Diedrich, Beth A. Malow, Nick A. Antic, Kyoko Sato, R. Doug McEvoy, Christopher J. Mathias, David Robertson, Elizabeth M. Berry-Kravis, Debra E. Weese-Mayer

Journal:

Clinical Autonomic Research

Year:

2007

Language:

english

File:

PDF, 365 KB

english, 2007

129

The apolipoprotein E ε4 allele and incident Alzheimer's disease in persons with mild cognitive impairment

Aggarwal, Neelum, Wilson, Robert, beck, Todd, bienias, Julia, Berry-Kravis, Elizabeth, bennett, David

Journal:

Year:

2005

Language:

english

File:

PDF, 91 KB

english, 2005

130

Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing

Kalman, Lisa, Tarleton, Jack, Hitch, Monica, Hegde, Madhuri, Hjelm, Nick, Berry-Kravis, Elizabeth, Zhou, Lili, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., Toji, Lorraine

Journal:

The Journal of Molecular Diagnostics

Year:

2013

Language:

english

File:

PDF, 345 KB

english, 2013

131

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series

Debrey, Sarah M., Leehey, Maureen A., Klepitskaya, Olga, Filley, Christopher M., Shah, Raj C., Kluger, Benzi, Berry-Kravis, Elizabeth, Spector, Elaine, Tassone, Flora, Hall, Deborah A.

Journal:

Year:

2016

Language:

english

File:

PDF, 442 KB

english, 2016

132

Case 2: Unexplained Hypercarbia in a Neonate in the Neonatal Intensive Care Unit

Nanda, Debasish, Bandiya, Prathik, Nangia, Sushma, Berry-Kravis, Elizabeth

Journal:

Year:

2017

Language:

english

File:

PDF, 722 KB

english, 2017

133

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members

Sivan, Yakov, Zhou, Amy, Jennings, Lawrence J., Berry-Kravis, Elizabeth M., Yu, Min, Zhou, Lili, Rand, Casey M., Weese-Mayer, Debra E.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 635 KB

2019

134

Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1

Thurm, Audrey, Chlebowski, Colby, Joseph, Lisa, Farmer, Cristan, Adedipe, Dee, Weiss, Madison, Wiggs, Edythe, Farhat, Nicole, Bianconi, Simona, Berry-Kravis, Elizabeth, Porter, Forbes D.

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2020

File:

PDF, 167 KB

2020

135

Reliability of Eye Tracking and Pupillometry Measures in Individuals with Fragile X Syndrome

Faraz Farzin, Felicia Scaggs, Crystal Hervey, Elizabeth Berry-Kravis, David Hessl

Journal:

Journal of Autism and Developmental Disorders

Year:

2011

Language:

english

File:

PDF, 1.71 MB

english, 2011

136

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back

Gross, Christina, Hoffmann, Anne, Bassell, Gary J., Berry-Kravis, Elizabeth M.

Journal:

Neurotherapeutics

Year:

2015

Language:

english

File:

PDF, 569 KB

english, 2015

137

Genetics of Congenital Central Hypoventilation Syndrome

Weese-Mayer, Debra E., Berry-Kravis, Elizabeth M.

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2004

Language:

english

File:

PDF, 84 KB

english, 2004

138

A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome

Lee, Michelle, Martin, Gary E., Berry-Kravis, Elizabeth, Losh, Molly

Journal:

Journal of Neurodevelopmental Disorders

Year:

2016

Language:

english

File:

PDF, 784 KB

english, 2016

139

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

Dejan B. Budimirovic,Elizabeth Berry-Kravis…

Journal:

Journal of Neurodevelopmental Disorders

Year:

2017

Language:

english

File:

PDF, 939 KB

english, 2017

140

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome

Sherman, Stephanie L., Kidd, Sharon A., Riley, Catharine, Berry-Kravis, Elizabeth, Andrews, Howard F., Miller, Robert M., Lincoln, Sharyn, Swanson, Mark, Kaufmann, Walter E., Brown, W. Ted

Journal:

Year:

2017

Language:

english

File:

PDF, 3.90 MB

english, 2017

141

N-Acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Sidhu, Rohini, Mondjinou, Yawo, Qian, Mingxing, Song, Haowei, Kumar, Arun Babu, Hong, Xinying, Hsu, Fong-Fu, Dietzen, Dennis J., Yanjanin, Nicole M., Porter, Forbes D., Berry-Kravis, Elizabeth, Vite,

Journal:

The Journal of Lipid Research

Year:

2019

Language:

english

File:

PDF, 1.31 MB

english, 2019

142

Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity

Abbeduto, Leonardkk, Berry-Kravis, Elizabeth, Sterling, Audra, Sherman, Stephanie, Edgin, Jamie O., McDuffie, Andrea, Hoffmann, Anne, Hamilton, Debra, Nelson, Michael, Aschkenasy, Jeannie, Thurman, An

Journal:

Journal of Neurodevelopmental Disorders

Year:

2020

File:

PDF, 1.33 MB

2020

143

Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new cases

Wei-Tong Hsu, Dmitriy A. Shchepin, Rong Mao, Elizabeth Berry-Kravis, Ann P. Garber, Nathan Fischel-Ghodsian, Rena E. Falk, Dru E. Carlson, Elizabeth R. Roeder, Elizabeth A. Leeth, M.J. Hajianpour, Jin

Journal:

American Journal of Medical Genetics Part A

Year:

1998

Language:

english

File:

PDF, 213 KB

english, 1998

144

Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease

Shilpa Ramaswamy, Jodi L. McBride, Ina Han, Elizabeth M. Berry-Kravis, Lili Zhou, Christopher D. Herzog, Mehdi Gasmi, Raymond T. Bartus, Jeffrey H. Kordower

Journal:

Neurobiology of Disease

Year:

2009

Language:

english

File:

PDF, 970 KB

english, 2009

145

Development of an Expressive Language Sampling Procedure in Fragile X Syndrome

Berry-Kravis, Elizabeth, Doll, Emily, Sterling, Audra, Kover, Sara T., Schroeder, Susen M., Mathur, Shaguna, Abbeduto, Leonard

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2013

Language:

english

File:

PDF, 230 KB

english, 2013

146

Clinicians’ experiences with the fragile X clinical and research consortium

Liu, Jessica A., Hagerman, Randi J., Miller, Robert M., Craft, Lisa T., Finucane, Brenda, Tartaglia, Nicole, Berry-Kravis, Elizabeth M., Sherman, Stephanie L., Kidd, Sharon A., Cohen, Jeffrey

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 236 KB

english, 2016

147

Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome

Lee, Michelle, Martin, Gary E., Berry-Kravis, Elizabeth, Losh, Molly

Journal:

Journal of Neurodevelopmental Disorders

Year:

2017

Language:

english

File:

PDF, 236 KB

english, 2017

148

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

Berry-Kravis, Elizabeth M., Lindemann, Lothar, Jønch, Aia E., Apostol, George, Bear, Mark F., Carpenter, Randall L., Crawley, Jacqueline N., Curie, Aurore, Des Portes, Vincent, Hossain, Farah, Gaspari

Journal:

Nature Reviews Drug Discovery

Year:

2017

Language:

english

File:

PDF, 633 KB

english, 2017

149

ASFMR1 splice variant

Vittal, Padmaja, Pandya, Shrikant, Sharp, Kevin, Berry-Kravis, Elizabeth, Zhou, Lili, Ouyang, Bichun, Jackson, Jonathan, Hall, Deborah A.

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 434 KB

english, 2018

150

Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective

Lee, Anna, Ventola, Pamela, Budimirovic, Dejan, Berry-Kravis, Elizabeth, Visootsak, Jeannie

Journal:

Year:

2018

Language:

english

File:

PDF, 256 KB

english, 2018

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