E.M. Berry-Kravis: search on Z-Library

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1

Fragile X syndrome

Hagerman, Randi J., Berry-Kravis, Elizabeth, Hazlett, Heather Cody, Bailey, Donald B., Moine, Herve, Kooy, R. Frank, Tassone, Flora, Gantois, Ilse, Sonenberg, Nahum, Mandel, Jean Louis, Hagerman, Paul

Journal:

Nature Reviews Disease Primers

Year:

2017

Language:

english

File:

PDF, 7.44 MB

english, 2017

2

Bruising and the ketogenic diet: Evidence for diet-induced changes in platelet function

Elizabeth Berry-Kravis, Gayle Booth, Audrey Taylor, Leonard A. Valentino

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 127 KB

english, 2001

3

Autism and Fragile X Syndrome

Yu, Timothy, Berry-Kravis, Elizabeth

Journal:

Seminars in Neurology

Year:

2014

Language:

english

File:

PDF, 160 KB

english, 2014

4

Autonomic regulation in fragile X syndrome

Keri J. Heilman, Emily R. Harden, Danielle M. Zageris, Elizabeth Berry-Kravis, Stephen W. Porges

Journal:

Developmental Psychobiology

Year:

2011

Language:

english

File:

PDF, 193 KB

english, 2011

5

Psychopharmacology in fragile X syndrome—Present and future

Elizabeth Berry-Kravis, Kristina Potanos

Journal:

Development Diabilities Research Reviews

Year:

2004

Language:

english

File:

PDF, 215 KB

english, 2004

6

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots

Jiang, Xuntian, Sidhu, Rohini, Orsini, Joseph J., Farhat, Nicole Y., Porter, Forbes D., Berry-Kravis, Elizabeth, Schaffer, Jean E., Ory, Daniel S.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 373 KB

english, 2018

7

Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment

Hoffmann, Anne, Wang, Angel, Berger, Natalie, Cordeiro, Lisa, Shaffer, Rebecca, Tartaglia, Nicole, Erickson, Craig, Berry-Kravis, Elizabeth

Journal:

Year:

2020

File:

PDF, 843 KB

2020

8

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Lili Zhou, Brion S. Maher, Jean M. Silvestri, Mark E. Curran, Mary L. Marazita

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

9

Update on Kleefstra Syndrome

Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.

Journal:

Molecular Syndromology

Year:

2012

Language:

english

File:

PDF, 497 KB

english, 2012

10

Changes in Growth and Seizure Reduction in Children on the Ketogenic Diet as a Treatment for Intractable Epilepsy

Sarah J. Peterson, Christy C. Tangney, Erika M. Pimentel-Zablah, Betsy Hjelmgren, Gayle Booth, Elizabeth Berry-Kravis

Journal:

Journal of the American Dietetic Association

Year:

2005

Language:

english

File:

PDF, 227 KB

english, 2005

11

Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome

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

Journal:

Year:

2014

Language:

english

File:

PDF, 711 KB

english, 2014

12

Comparison of PHOX2B Testing Methods in the Diagnosis of Congenital Central Hypoventilation Syndrome and Mosaic Carriers

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

Journal:

Diagnostic Molecular Pathology

Year:

2010

Language:

english

File:

PDF, 1.40 MB

english, 2010

13

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Barclay, Sarah F., Rand, Casey M., Borch, Lauren A., Nguyen, Lisa, Gray, Paul A., Gibson, William T., Wilson, Richard J. A., Gordon, Paul M. K., Aung, Zaw, Berry-Kravis, Elizabeth M., Ize-Ludlow, Dieg

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 503 KB

english, 2015

14

Long-Term Treatment of Niemann-Pick Type C1 Disease with Intrathecal 2-Hydroxypropyl-β-Cyclodextrin

Berry-Kravis, Elizabeth, Chin, Jamie, Hoffmann, Anne, Winston, Amy, Stoner, Robin, LaGorio, Lisa, Friedmann, Katherine, Hernandez, Mariana, Ory, Daniel S., Porter, Forbes D., O'Keefe, Joan A.

Journal:

Pediatric Neurology

Year:

2018

Language:

english

File:

PDF, 1.48 MB

english, 2018

15

Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome

O’Keefe, Joan A., Robertson, Erin E., Ouyang, Bichun, Carns, Danielle, McAsey, Andrew, Liu, Yuanqing, Swanson, Maija, Bernard, Bryan, Berry-Kravis, Elizabeth, Hall, Deborah A.

Journal:

Year:

2018

Language:

english

File:

PDF, 350 KB

english, 2018

16

Toilet Training in Fragile X Syndrome

Berry-Kravis, Elizabeth, Kidd, Sharon A., Lachiewicz, Ave M., Choo, Tse Hwei, Tartaglia, Nicole, Talapatra, Devadrita, Aguirre-Kolb, Christina, Andrews, Howard, Riley, Karen

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2019

File:

PDF, 373 KB

2019

17

DIFFUSION TENSOR IMAGING ABNORMALITIES IN THE UNCINATE FASCICULUS AND INFERIOR LONGITUDINAL FASCICULUS IN PHELAN-MCDERMID SYNDROME

Bassell, Julia, Srivastava, Siddharth, Prohl, Anna K., Scherrer, Benoit, Kapur, Kush, Filip-Dhima, Rajna, Berry-Kravis, Elizabeth, Soorya, Latha, Thurm, Audrey, Powell, Craig M., Bernstein, Jonathan A

Journal:

Pediatric Neurology

Year:

2020

Language:

english

File:

PDF, 799 KB

english, 2020

18

Correction to: 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, Leonard, Berry-Kravis, Elizabeth, Sterling, Audra, Sherman, Stephanie, Edgin, Jamie O., McDuffie, Andrea, Hoffmann, Anne, Hamilton, Debra, Nelson, Michael, Aschkenasy, Jeannie, Thurman, Ange

Journal:

Journal of Neurodevelopmental Disorders

Year:

2020

File:

PDF, 191 KB

2020

19

Intracerebroventricular cerliponase alfa for CLN2 disease: Clinical practice considerations from US clinics

Wang, Raymond Y., de los Reyes, Emily, Lehwald, Lenora, Augustine, Erika, Berry-Kravis, Elizabeth, Butler, Karen, Cormier, Natalie, Demarest, Scott, Lu, Sam, Madden, Jacqueline, Olaya, Joffre, See, Su

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 322 KB

2020

20

Pivotal Study of ZYN002 Cannabidiol (CBD) Transdermal Gel in Children and Adolescents With Fragile X Syndrome: Role of Methylation Status as a Correlate to Disease Severity and Prognostic Biomarker

Berry-Kravis, Elizabeth, Erickson, Craig A., Hagerman, Randi, Tartaglia, Nicole, Cohen, Jonathan, Sebree, Terri, Gutterman, Donna, Tich, Nancy, Dobbins, Thomas, Palumbo, Joseph M.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2020

File:

PDF, 238 KB

2020

21

The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS

OâKeefe, Joan A., Guan, Joseph, Robertson, Erin, Biskis, Alexandras, Joyce, Jessica, Ouyang, Bichun, Liu, Yuanqing, Carnes, Danielle, Purcell, Nicollette, Berry-Kravis, Elizabeth, Hall, Deborah A.

Journal:

Year:

2020

File:

PDF, 470 KB

2020

22

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

23

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia

Dobyns, William B., Berry-Kravis, Elizabeth, Havernick, Nancy J., Holden, Kenton R., Viskochil, David

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 385 KB

english, 1999

24

Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells

Elizabeth Berry-Kravis, Rita Ciurlionis

Journal:

Journal of Neuroscience Research

Year:

1998

Language:

english

File:

PDF, 118 KB

english, 1998

25

Prenatal testing for late infantile neuronal ceroid lipofuscinosis

Elizabeth Berry-Kravis, David E. Sleat, Istvan Sohar, Peter Meyer, Robert Donnelly, Peter Lobel

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 3.23 MB

english, 2000

26

Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome

Elizabeth Berry-Kravis, Paul Sklena

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 711 KB

english, 1993

27

Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence

Valerie Lindgren, Barbara Rosinsky, Janet Chin, Elizabeth Berry-Kravis

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 602 KB

english, 1994

28

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

29

Sudden infant death syndrome: Association with a promoter polymorphism of the serotonin transporter gene

Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Brion S. Maher, Jean M. Silvestri, Mark E. Curran, Mary L. Marazita

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 87 KB

english, 2003

30

Association of the serotonin transporter gene with sudden infant death syndrome: A haplotype analysis

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

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

31

3′ UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: Haplotype analysis

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

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 89 KB

english, 2006

32

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

33

Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene

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

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

34

Neuropathic features in fragile X premutation carriers

Elizabeth Berry-Kravis, Christopher G. Goetz, Maureen A. Leehey, Randi J. Hagerman, Lin Zhang, Lexin Li, Danh Nguyen, Deborah A. Hall, Nicole Tartaglia, Jennifer Cogswell, Flora Tassone, Paul J. Hager

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 125 KB

english, 2007

35

Sudden Infant Death Syndrome: Review of implicated genetic factors

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

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 259 KB

english, 2007

36

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

37

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

David Hessl, Flora Tassone, Danuta Z. Loesch, Elizabeth Berry-Kravis, Maureen A. Leehey, Louise W. Gane, Ingrid Barbato, Cathlin Rice, Emma Gould, Deborah A. Hall, James Grigsby, Jacob A. Wegelin, Sus

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2005

Language:

english

File:

PDF, 108 KB

english, 2005

38

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)

Flora Tassone, John Adams, Elizabeth M. Berry-Kravis, Susannah S. Cohen, Alfredo Brusco, Maureen A. Leehey, Lexin Li, Randi J. Hagerman, Paul J. Hagerman

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2007

Language:

english

File:

PDF, 74 KB

english, 2007

39

Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome

Ning Weng, Ivan Jeanne Weiler, Allison Sumis, Elizabeth Berry-Kravis, William T. Greenough

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

40

Prepulse inhibition in fragile X syndrome: Feasibility, reliability, and implications for treatment

David Hessl, Elizabeth Berry-Kravis, Lisa Cordeiro, Jennifer Yuhas, Edward M. Ornitz, Aaron Campbell, Elizabeth Chruscinski, Crystal Hervey, James M. Long, Randi J. Hagerman

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 175 KB

english, 2009

41

Tremor and ataxia in fragile X premutation carriers: Blinded videotape study

Elizabeth Berry-Kravis, Foster Lewin, Joanne Wuu, Maureen Leehey, Randi Hagerman, Paul Hagerman, Christopher G. Goetz

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 112 KB

english, 2003

42

Fragile X–associated tremor/ataxia syndrome in sisters related to X-inactivation

Elizabeth Berry-Kravis, Kristina Potanos, Dahlia Weinberg, Lili Zhou, Christopher G. Goetz

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

43

Cyclic AMP metabolism in fragile X syndrome

Dr Elizabeth Berry-Kravis, Peter R. Huttenlocher

Journal:

Annals of Neurology

Year:

1992

Language:

english

File:

PDF, 513 KB

english, 1992

44

X-linked pachygyria and agenesis of the corpus callosum: Evidence for an X chromosome lissencephaly locus

Dr. Elizabeth Berry-Kravis, Jeanette Israel

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 595 KB

english, 1994

45

Symptomatic treatment in the fragile X–associated tremor/ataxia syndrome

Deborah A. Hall, Elizabeth Berry-Kravis, Randi J. Hagerman, Paul J. Hagerman, Cathlin D. Rice, Maureen A. Leehey

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 63 KB

english, 2006

46

Progression of tremor and ataxia in male carriers of the FMR1 premutation

Maureen A. Leehey, Elizabeth Berry-Kravis, Sung-Joon Min, Deborah A. Hall, Cathlin D. Rice, Lin Zhang, Jim Grigsby, Claudia M. Greco, Ann Reynolds, Rebecca Lara, Jennifer Cogswell, Sebastien Jacquemon

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 80 KB

english, 2007

47

Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

Elizabeth Berry-Kravis, Liane Abrams, Sarah M. Coffey, Deborah A. Hall, Claudia Greco, Louise W. Gane, Jim Grigsby, James A. Bourgeois, Brenda Finucane, Sebastien Jacquemont, James A. Brunberg, Lin Zh

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 307 KB

english, 2007

48

Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations

Jennifer G. Goldman, Darcy Marr, Lili Zhou, Bichun Ouyang, Sue E. Leurgans, Elizabeth Berry-Kravis, Christopher G. Goetz

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 486 KB

english, 2011

49

FMR1 gray-zone alleles: Association with Parkinson's disease in women?

Deborah A. Hall, Elizabeth Berry-Kravis, Wenting Zhang, Flora Tassone, Elaine Spector, Gary Zerbe, Paul J. Hagerman, Bichun Ouyang, Maureen A. Leehey

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 116 KB

english, 2011

50

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death

Jerome O. Gronli, Barbara A. Santucci, Sue E. Leurgans, Elizabeth M. Berry-Kravis, Debra E. Weese-Mayer

Journal:

Pediatric Pulmonology

Year:

2008

Language:

english

File:

PDF, 163 KB

english, 2008