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51

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

Debra E. Weese-Mayer, Casey M. Rand, Elizabeth M. Berry-Kravis, Larry J. Jennings, Darius A. Loghmanee, Pallavi P. Patwari, Isabella Ceccherini

Journal:

Pediatric Pulmonology

Year:

2009

Language:

english

File:

PDF, 694 KB

english, 2009

52

Congenital central hypoventilation syndrome: Neurocognitive functioning in school age children

Frank A. Zelko, Michael N. Nelson, Sue E. Leurgans, Elizabeth M. Berry-Kravis, Debra E. Weese-Mayer

Journal:

Pediatric Pulmonology

Year:

2010

Language:

english

File:

PDF, 85 KB

english, 2010

53

Variable human phenotype associated with novel deletions of the PHOX2B gene

Lawrence J. Jennings, Min Yu, Casey M. Rand, Nicole Kravis, Elizabeth M. Berry-Kravis, Pallavi P. Patwari, Debra E. Weese-Mayer

Journal:

Pediatric Pulmonology

Year:

2012

Language:

english

File:

PDF, 220 KB

english, 2012

54

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

Michael R. Hunsaker, Claudia M. Greco, Marian A. Spath, Arie P. T. Smits, Celestine S. Navarro, Flora Tassone, Johan M. Kros, Lies-Anne Severijnen, Elizabeth M. Berry-Kravis, Robert F. Berman, Paul J.

Journal:

Acta Neuropathologica

Year:

2011

Language:

english

File:

PDF, 1.92 MB

english, 2011

55

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

56

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

57

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

58

Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders

Allyn McConkie-Rosell, Liane Abrams, Brenda Finucane, Amy Cronister, Louise W. Gane, Sarah M. Coffey, Stephanie Sherman, Lawrence M. Nelson, Elizabeth Berry-Kravis, David Hessl, Sufen Chiu, Natalie St

Journal:

Journal of Genetic Counseling

Year:

2007

Language:

english

File:

PDF, 249 KB

english, 2007

59

Targeted treatments for fragile X syndrome

Elizabeth Berry-Kravis, Andrew Knox, Crystal Hervey

Journal:

Journal of Neurodevelopmental Disorders

Year:

2011

Language:

english

File:

PDF, 625 KB

english, 2011

60

Aging in fragile X syndrome

Agustini Utari, Evan Adams, Elizabeth Berry-Kravis, Alyssa Chavez, Felicia Scaggs, Lily Ngotran, Antoniya Boyd, David Hessl, Louise W. Gane, Flora Tassone, Nicole Tartaglia, Maureen A. Leehey, Randi J

Journal:

Journal of Neurodevelopmental Disorders

Year:

2010

Language:

english

File:

PDF, 138 KB

english, 2010

61

Fragile X: Leading the Way for Targeted Treatments in Autism

Lulu W. Wang, Elizabeth Berry-Kravis, Randi J. Hagerman

Journal:

Neurotherapeutics

Year:

2010

Language:

english

File:

PDF, 204 KB

english, 2010

62

Epilepsy in fragile X syndrome

Elizabeth Berry-Kravis

Journal:

Developmental Medicine & Child Neurology

Year:

2002

Language:

english

File:

PDF, 54 KB

english, 2002

63

Characterization of an Adenylate Cyclase-Linked Serotonin (5-HT1) Receptor in a Neuroblastoma × Brain Explant Hybrid Cell Line (NCB-20)

Elizabeth Berry-Kravis, Glyn Dawson

Journal:

Journal of Neurochemistry

Year:

1983

Language:

english

File:

PDF, 874 KB

english, 1983

64

Specific Receptor-Mediated Inhibition of Cyclic AMP Synthesis by Dopamine in a Neuroblastoma × Brain Hybrid Cell Line NCB-20

Elizabeth Berry-Kravis, Stephen B. Freedman, Glyn Dawson

Journal:

Journal of Neurochemistry

Year:

1984

Language:

english

File:

PDF, 825 KB

english, 1984

65

Evidence for [D-Ala2,D-Leu5]Enkephalin-Induced Supersensitivity to 5-Hydroxytryptamine in a Neurotumor × Brain Hybrid Cell Line (NCB-20)

Elizabeth Berry-Kravis, Glyn Dawson

Journal:

Journal of Neurochemistry

Year:

1985

Language:

english

File:

PDF, 801 KB

english, 1985

66

Possible Role of Gangliosides in Regulating an Adenylate Cyclase-Linked 5-Hydroxytryptamine (5-HT1) Receptor

Elizabeth Berry-Kravis, Glyn Dawson

Journal:

Journal of Neurochemistry

Year:

1985

Language:

english

File:

PDF, 1.00 MB

english, 1985

67

Neuromodulator-Mediated Phosphorylation of Specific Proteins in a Neurotumor Hybrid Cell Line (NCB-20)

Elizabeth Berry-Kravis, Barbara I. Kazmierczak, Vivianna Derechin, Glyn Dawson

Journal:

Journal of Neurochemistry

Year:

1988

Language:

english

File:

PDF, 1.04 MB

english, 1988

68

Carnitine Levels and the Ketogenic Diet

Elizabeth Berry-Kravis, Gayle Booth, Ana Carolina Sanchez, Jean Woodbury-Kolb

Journal:

Year:

2001

Language:

english

File:

PDF, 372 KB

english, 2001

69

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)

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

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 112 KB

english, 2012

70

Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment

Stephanie M. Sansone, Keith F. Widaman, Scott S. Hall, Allan L. Reiss, Amy Lightbody, Walter E. Kaufmann, Elizabeth Berry-Kravis, Ave Lachiewicz, Elaine C. Brown, David Hessl

Journal:

Journal of Autism and Developmental Disorders

Year:

2012

Language:

english

File:

PDF, 366 KB

english, 2012

71

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

72

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

73

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

74

HTR2A variation and sudden infant death syndrome: a case–control analysis

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

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 106 KB

english, 2009

75

Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP)

Kevin J Cummings, Cherise Klotz, Wei-Qiao Liu, Debra E Weese-Mayer, Mary L Marazita, Margaret E Cooper, Elizabeth M Berry-Kravis, Rose Tobias, Cameron Goldie, N Torben Bech-Hansen, Richard JA Wilson

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 223 KB

english, 2009

76

Open-label add-on treatment trial of minocycline in fragile X syndrome

Carlo Paribello, Leeping Tao, Anthony Folino, Elizabeth Berry-Kravis, Michael Tranfaglia, Iryna M Ethell, Douglas W Ethell

Journal:

Year:

2010

Language:

english

File:

PDF, 250 KB

english, 2010

77

Differential regulation of multiple neuroreceptors in a somatic cell hybrid by inhibitors of glycoprotein processing

Ronald W. McLawhon, Elizabeth Berry-Kravis, Glyn Dawson

Journal:

Biochemical and Biophysical Research Communications

Year:

1986

Language:

english

File:

PDF, 463 KB

english, 1986

78

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome

Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Mary L. Marazita

Journal:

Respiratory Physiology & Neurobiology

Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

79

Understanding fragile X syndrome

Elizabeth Berry-Kravis, Aaron W. Grossman, Linda S. Crnic, William T. Greenough

Journal:

Current Paediatrics

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

80

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

81

Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder

Edwin H. Cook Jr., Ramesh C. Arora, George M. Anderson, Elizabeth M. Berry-Kravis, Shu-ya Yan, H.C. Yeoh, Paul J. Sklena, David A. Charak, Bennett L. Leventhal

Journal:

Year:

1993

Language:

english

File:

PDF, 703 KB

english, 1993

82

Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS)

Andrew Knox, Andrea Schneider, Floridette Abucayan, Crystal Hervey, Christina Tran, David Hessl, Elizabeth Berry-Kravis

Journal:

Journal of Neurodevelopmental Disorders

Year:

2012

Language:

english

File:

PDF, 182 KB

english, 2012

83

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

Nolin, Sarah L., Sah, Sachin, Glicksman, Anne, Sherman, Stephanie L., Allen, Emily, Berry-Kravis, Elizabeth, Tassone, Flora, Yrigollen, Carolyn, Cronister, Amy, Jodah, Marcia, Ersalesi, Nicole, Dobkin

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 219 KB

english, 2013

84

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

85

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

Mirzaa, Ghayda M., Paciorkowski, Alex R., Marsh, Eric D., Berry-Kravis, Elizabeth M., Medne, Livija, Grix, Art, Wirrell, Elaine C., Powell, Berkley R., Nickels, Katherine C., Burton, Barbara, Paras, A

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 742 KB

english, 2013

86

The challenges of clinical trials in fragile X syndrome

Jacquemont, Sébastien, Berry-Kravis, Elizabeth, Hagerman, Randi, Raison, Florian, Gasparini, Fabrizio, Apostol, George, Ufer, Mike, Portes, Vincent, Gomez-Mancilla, Baltazar

Journal:

Psychopharmacology

Year:

2014

Language:

english

File:

PDF, 403 KB

english, 2014

87

Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation

Goldman, Jennifer G., Eichenseer, Sheila R., Berry-Kravis, Elizabeth, Zimnowodzki, Simon, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J.

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 265 KB

english, 2013

88

Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Visootsak, Jeannie, Hipp, Heather, Clark, Heather, Berry-Kravis, Elizabeth, Anderson, Tovi, Laney, Dawn

Journal:

The Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 152 KB

english, 2014

89

Mechanism-Based Treatments in Neurodevelopmental Disorders: Fragile X Syndrome

Berry-Kravis, Elizabeth

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 664 KB

english, 2014

90

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

91

Correction

O’Keefe, Joan A., Orías, Alejandro A. Espinoza, Khan, Hassan, Hall, Deborah A., Berry-Kravis, Elizabeth, Wimmer, Markus A.

Journal:

Journal of Endodontics

Year:

1983

Language:

english

File:

PDF, 125 KB

english, 1983

92

TESTS OF DOMESTIC OPEN FIRE-GRATES.

Bennett, David A., Schneider, Julie A., Wilson, Robert S., Bienias, Julia L., Berry-Kravis, Elizabeth, Arnold, Steven E.

Journal:

Year:

1902

Language:

english

File:

PDF, 1.93 MB

english, 1902

93

P2-271 Amyloid mediates the association of apolipoprotein E ε4 allele to cognitive function in older persons

Bennett, David A., Schneider, Julie A., Wilson, Robert S., Bienias, Julia L., Berry-Kravis, Elizabeth, Arnold, Steven E.

Journal:

Neurobiology of Aging

Year:

2004

Language:

english

File:

PDF, 151 KB

english, 2004

94

Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome

Tomoum, Hoda, Elsayed, Solaf M., Berry-Kravis, Elizabeth

Journal:

Egyptian Journal of Medical Human Genetics

Year:

2013

Language:

english

File:

PDF, 388 KB

english, 2013

95

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

96

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

97

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

98

Feasibility, Reproducibility, and Clinical Validity of the Pediatric Anxiety Rating Scale—Revised for Fragile X Syndrome

Russo-Ponsaran, Nicole M., Yesensky, Jessica, Hessl, David, Berry-Kravis, Elizabeth

Journal:

American Journal on Intellectual and Developmental Disabilities

Year:

2014

Language:

english

File:

PDF, 172 KB

english, 2014

99

Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome

Barrett, Karlene T, Rodikova, Ekaterina, Weese-Mayer, Debra E, Rand, Casey M, Marazita, Mary L, Cooper, Margaret E, Berry-Kravis, Elizabeth M, Bech-Hansen, N Torben, Wilson, Richard JA

Journal:

Acta Paediatrica

Year:

2013

Language:

english

File:

PDF, 148 KB

english, 2013

100

Effect of CX516, an AMPA-Modulating Compound, on Cognition and Behavior in Fragile X Syndrome: AControlled Trial

Berry-Kravis, Elizabeth, Krause, Sue Ellen, Block, Sandra S., Guter, Steve, Wuu, Joanne, Leurgans, Sue, Decle, Penelope, Potanos, Kristina, Cook, Edwin, Salt, Jeff, Maino, Dominick, Weinberg, Dahlia,

Journal:

Journal of Child and Adolescent Psychopharmacology

Year:

2006

Language:

english

File:

PDF, 263 KB

english, 2006