Christina A Gurnett : rechercher sur Z-Library

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Articles (68)
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1

Prevalence and impact of underlying diagnosis and comorbidities on Chiari 1 malformation

Sadler, Brooke, Kuensting, Timothy, Strahle, Jennifer, Park, Tae Sung, Smyth, Matthew, Limbrick, David D., Dobbs, Matthew B., Haller, Gabe, Gurnett, Christina A.

Journal:

Pediatric Neurology

Année:

2020

Langue:

english

Fichier:

PDF, 745 KB

english, 2020

2

Skeletal Muscle Contractile Gene (TNNT3, MYH3, TPM2) Mutations Not Found in Vertical Talus or Clubfoot

Christina A. Gurnett, Farhang Alaee, David Desruisseau, Stephanie Boehm, Matthew B. Dobbs

Journal:

Clinical Orthopaedics and Related Research®

Année:

2009

Langue:

english

Fichier:

PDF, 283 KB

english, 2009

3

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot

Katelyn S. Weymouth, Susan H. Blanton, Michael J. Bamshad, Anita E. Beck, Christine Alvarez, Steve Richards, Christina A. Gurnett, Matthew B. Dobbs, Douglas Barnes, Laura E. Mitchell, Jacqueline T. He

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 134 KB

english, 2011

4

Skeletal Muscle Abnormalities and Genetic Factors Related to Vertical Talus

Laura J. Merrill, Christina A. Gurnett, Anne M. Connolly, Alan Pestronk, Matthew B. Dobbs

Journal:

Clinical Orthopaedics and Related Research®

Année:

2011

Langue:

english

Fichier:

PDF, 345 KB

english, 2011

5

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

Singh, Nanda A., Pappas, Chris, Dahle, E. Jill, Claes, Lieve R. F., Pruess, Timothy H., De Jonghe, Peter, Thompson, Joel, Dixon, Missy, Gurnett, Christina, Peiffer, Andy, White, H. Steve, Filloux, Fra

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 2.62 MB

english, 2009

6

New Ideas in Epilepsy Genetics

Gurnett, Christina A., Hedera, Peter

Journal:

Archives of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 126 KB

english, 2007

7

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development

Alvarado, David M, Buchan, Jillian G, Frick, Steven L, Herzenberg, John E, Dobbs, Matthew B, Gurnett, Christina A

Journal:

European Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2013

8

Letter to the Editor

Dobbs, Matthew B., Gurnett, Christina A.

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 62 KB

english, 2011

9

Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11–q22.3

Christina A. Gurnett, Matthew B. Dobbs, Eric J. Nordsieck, Cassie Keppel, Charles A. Goldfarb, Jose A. Morcuende, Anne M. Bowcock

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 126 KB

english, 2006

10

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

Christina A. Gurnett, Anne M. Bowcock, Frederick R. Dietz, Jose A. Morcuende, Jeffrey C. Murray, Matthew B. Dobbs

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 263 KB

english, 2007

11

Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot

Audrey R. Ester, Katelyn S. Weymouth, Amber Burt, Carol A. Wise, Allison Scott, Christina A. Gurnett, Matthew B. Dobbs, Susan H. Blanton, Jacqueline T. Hecht

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 132 KB

english, 2009

12

Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36

Matthew B. Dobbs, Frederick R. Dietz, Christina A. Gurnett, Jose A. Morcuende, Curtis M. Steyers, Jeffrey C. Murray

Journal:

Journal of Orthopaedic Research

Année:

2000

Langue:

english

Fichier:

PDF, 508 KB

english, 2000

13

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy

Shaochun Ma, Marcia A. Blair, Bassel Abou-Khalil, Andre H. Lagrange, Christina A. Gurnett, Peter Hedera

Journal:

Epilepsy Research

Année:

2006

Langue:

english

Fichier:

PDF, 172 KB

english, 2006

14

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

Matthew B. Dobbs, Christina A. Gurnett, Jason Robarge, J. Eric Gordon, Jose A. Morcuende, Anne M. Bowcock

Journal:

Journal of Orthopaedic Research

Année:

2005

Langue:

english

Fichier:

PDF, 515 KB

english, 2005

15

Analysis of Cerebrospinal Fluid Glial Fibrillary Acidic Protein after Seizures in Children

Christina A. Gurnett, Michael Landt, Michael Wong

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 84 KB

english, 2003

16

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype

Tracy L McGregor, Christina A Gurnett, Matthew B Dobbs, Carol A Wise, Jose A Morcuende, Thomas M Morgan, Ramkumar Menon, Louis J Muglia

Journal:

BMC Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 445 KB

english, 2011

17

Pilocytic astrocytoma in a child with Noonan syndrome

Laura G. Schuettpelz, Sharon McDonald, Kristina Whitesell, David M. Desruisseau, Dorothy K. Grange, Christina A. Gurnett, David B. Wilson

Journal:

Pediatric Blood & Cancer

Année:

2009

Langue:

english

Fichier:

PDF, 129 KB

english, 2009

18

Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3

Christina A. Gurnett, Matthew B. Dobbs, Catherine R. Keppel, Elisa R. Pincus, Laura A. Jansen, Anne M. Bowcock

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 71 KB

english, 2007

19

Case Report

Matthew B. Dobbs, Stephanie Boehm, Dorothy K. Grange, Christina A. Gurnett

Journal:

Clinical Orthopaedics and Related Research®

Année:

2008

Langue:

english

Fichier:

PDF, 307 KB

english, 2008

20

Magnetic Resonance Angiography in Clubfoot and Vertical Talus:A Feasibility Study

Lisa Kruse, Christina A. Gurnett, David Hootnick, Matthew B. Dobbs

Journal:

Clinical Orthopaedics and Related Research®

Année:

2009

Langue:

english

Fichier:

PDF, 205 KB

english, 2009

21

Update on Clubfoot: Etiology and Treatment

Matthew B. Dobbs, Christina A. Gurnett

Journal:

Clinical Orthopaedics and Related Research®

Année:

2009

Langue:

english

Fichier:

PDF, 165 KB

english, 2009

22

Vascular Abnormalities Correlate with Decreased Soft Tissue Volumes in Idiopathic Clubfoot

Laura J. Merrill, Christina A. Gurnett, Marilyn Siegel, Sushil Sonavane, Matthew B. Dobbs

Journal:

Clinical Orthopaedics and Related Research®

Année:

2011

Langue:

english

Fichier:

PDF, 272 KB

english, 2011

23

Impact of congenital talipes equinovarus etiology on treatment outcomes

Christina A Gurnett, Stephanie Boehm, Anne Connolly, Tyler Reimschisel, Matthew B Dobbs

Journal:

Developmental Medicine & Child Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 163 KB

english, 2008

24

Direct binding of G-protein βλ complex to voltage-dependent calcium channels

Waard, Michel De, Liu, Hongyan, Walker, Denise, Scott, Victoria E. S., Gurnett, Christina A., Campbell, Kevin P.

Journal:

Année:

1997

Fichier:

PDF, 1.07 MB

1997

25

HOXD10 M319K mutation in a family with isolated congenital vertical talus

Matthew B. Dobbs, Christina A. Gurnett, Brandon Pierce, G. Ulrich Exner, Jason Robarge, Jose A. Morcuende, William G. Cole, Peter A. Templeton, Bruce Foster, Anne M. Bowcock

Journal:

Journal of Orthopaedic Research

Année:

2006

Langue:

english

Fichier:

PDF, 166 KB

english, 2006

26

Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle

Anupama Vydyanath, Christina A. Gurnett, Steve Marston, Pradeep K. Luther

Journal:

Journal of Muscle Research and Cell Motility

Année:

2012

Langue:

english

Fichier:

PDF, 2.24 MB

english, 2012

27

Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation

Christina A. Gurnett, Farhang Alaee, Lisa M. Kruse, David M. Desruisseau, Jacqueline T. Hecht, Carol A. Wise, Anne M. Bowcock, Matthew B. Dobbs

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 531 KB

english, 2008

28

Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

David M. Alvarado, Hyuliya Aferol, Kevin McCall, Jason B. Huang, Matthew Techy, Jillian Buchan, Janet Cady, Patrick R. Gonzales, Matthew B. Dobbs, Christina A. Gurnett

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 539 KB

english, 2010

29

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

Hirotaka Tao, J. Robert Manak, Levi Sowers, Xue Mei, Hiroshi Kiyonari, Takaya Abe, Nader S. Dahdaleh, Tian Yang, Shu Wu, Shan Chen, Mark H. Fox, Christina Gurnett, Thomas Montine, Thomas Bird, Lisa G.

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1014 KB

english, 2011

30

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

Matthew B. Dobbs, Christina A. Gurnett, Jason Robarge, J. Eric Gordon, Jose A. Morcuende, Anne M. Bowcock

Journal:

Journal of Orthopaedic Research

Année:

2005

Langue:

english

Fichier:

PDF, 283 KB

english, 2005

31

Successful use of a biphasic waveform automated external defibrillator in a high-risk child

Christina A Gurnett, Dianne L Atkins

Journal:

The American Journal of Cardiology

Année:

2000

Langue:

english

Fichier:

PDF, 395 KB

english, 2000

32

Norepinephrine release from guinea pig cardiac sympathetic nerves is insensitive to ryanodine under physiological conditions

Christina A. Gurnett, Carol A. Whiteis, Benet J. Pardini, Phillip G. Schmid Jr.

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 509 KB

english, 1993

33

Dual Function of the Voltage-Dependent Ca2+ Channel α2δ Subunit in Current Stimulation and Subunit Interaction

Christina A Gurnett, Michel De Waard, Kevin P Campbell

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 258 KB

english, 1996

34

Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature

Kasasbeh, Aimen S., Gurnett, Christina A., Smyth, Matthew D.

Journal:

Child's Nervous System

Année:

2014

Langue:

english

Fichier:

PDF, 498 KB

english, 2014

35

Novel SCN3A variants associated with focal epilepsy in children

Vanoye, Carlos G., Gurnett, Christina A., Holland, Katherine D., George, Alfred L., Kearney, Jennifer A.

Journal:

Neurobiology of Disease

Année:

2014

Langue:

english

Fichier:

PDF, 920 KB

english, 2014

36

Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?

Buchan, Jillian G., Alvarado, David M., Haller, Gabe, Aferol, Hyuliya, Miller, Nancy H., Dobbs, Matthew B., Gurnett, Christina A.

Journal:

Clinical Orthopaedics and Related Research®

Année:

2014

Langue:

english

Fichier:

PDF, 735 KB

english, 2014

37

Genetics of clubfoot

Dobbs, Matthew B., Gurnett, Christina A.

Journal:

Journal of Pediatric Orthopaedics B

Année:

2012

Langue:

english

Fichier:

PDF, 95 KB

english, 2012

38

De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wh

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2015

39

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Mefford, Heather C., Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A., Schreibe

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 709 KB

english, 2010

40

Polygenic Threshold Model with Sex Dimorphism in Adolescent Idiopathic Scoliosis: The Carter Effect

Kruse, Lisa M., Buchan, Jillian G., Gurnett, Christina A., Dobbs, Matthew B.

Journal:

The Journal of Bone and Joint Surgery (American)

Année:

2012

Langue:

english

Fichier:

PDF, 6.08 MB

english, 2012

41

De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies

Hansen, Jeanne, Snow, Chelsi, Tuttle, Emily, Ghoneim, Dalia H., Yang, Chun-Song, Spencer, Adam, Gunter, Sonya A., Smyser, Christopher D., Gurnett, Christina A., Shinawi, Marwan, Dobyns, William B., Wh

Journal:

The American Journal of Human Genetics

Année:

2015

Fichier:

PDF, 453 KB

2015

42

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Paciorkowski, Alex R, Thio, Liu Lin, Rosenfeld, Jill A, Gajecka, Marzena, Gurnett, Christina A, Kulkarni, Shashikant, Chung, Wendy K, Marsh, Eric D, Gentile, Mattia, Reggin, James D, Wheless, James W,

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 445 KB

english, 2011

43

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility

Benjamin S. Jorge, Courtney M. Campbell, Alison R. Miller, Elizabeth D. Rutter, Christina A. Gurnett, Carlos G. Vanoye, Alfred L. George, Jr., Jennifer A. Kearney and Kevin P. Campbell

Journal:

Proceedings of the National Academy of Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2011

44

Disruption of Sodium Bicarbonate Transporter SLC4A10 in a Patient With Complex Partial Epilepsy and Mental Retardation

Gurnett, Christina A., Veile, Rose, Zempel, John, Blackburn, Lynn, Lovett, Michael, Bowcock, Anne

Journal:

Archives of Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 183 KB

english, 2008

45

Absence of HOXD10 Mutations in Idiopathic Clubfoot and Sporadic Vertical Talus

Gurnett, Christina A, Keppel, Cassie, Bick, Jennifer, Bowcock, Anne M, Dobbs, Matthew B

Journal:

Clinical Orthopaedics and Related Research®

Année:

2007

Langue:

english

Fichier:

PDF, 212 KB

english, 2007

46

Genetic Linkage Localizes an Adolescent Idiopathic Scoliosis and Pectus Excavatum Gene to Chromosome 18 q

Gurnett, Christina A., Alaee, Farhang, Bowcock, Anne, Kruse, Lisa, Lenke, Lawrence G., Bridwell, Keith H., Kuklo, Timothy, Luhmann, Scott J., Dobbs, Matthew B.

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 2.31 MB

english, 2009

47

Flexor Digitorum Accessorius Longus Muscle Is Associated With Familial Idiopathic Clubfoot

Dobbs, Matthew B, Walton, Tim, Gordon, J Eric, Schoenecker, Perry L, Gurnett, Christina A

Journal:

Journal of Pediatric Orthopaedics

Année:

2005

Langue:

english

Fichier:

PDF, 139 KB

english, 2005

48

Evaluation of GPR50, hMel-1B, and ROR-α Melatonin-related Receptors and the Etiology of Adolescent Idiopathic Scoliosis

Shyy, William, Wang, Kai, Gurnett, Christina A., Dobbs, Matthew B., Miller, Nancy H., Wise, Carol, Sheffield, Val C., Morcuende, Jose A.

Journal:

Journal of Pediatric Orthopaedics

Année:

2010

Langue:

english

Fichier:

PDF, 112 KB

english, 2010

49

Kinesin family member 6 (kif6) is necessary for spine development in zebrafish

Buchan, Jillian G., Gray, Ryan S., Gansner, John M., Alvarado, David M., Burgert, Lydia, Gitlin, Jonathan D., Gurnett, Christina A., Goldsmith, Matthew I.

Journal:

Developmental Dynamics

Année:

2014

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2014

50

Massively parallel single-nucleotide mutagenesis using reversibly terminated inosine

Haller, Gabe, Alvarado, David, McCall, Kevin, Mitra, Robi D, Dobbs, Matthew B, Gurnett, Christina A

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 421 KB

english, 2016