Roeder, Elizabeth R. : rechercher sur Z-Library

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1

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 601 KB

english, 2009

2

Longitudinal and Incremental Relation of Cybervictimization to Negative Self-Cognitions and Depressive Symptoms in Young Adolescents

Cole, David A., Zelkowitz, Rachel L., Nick, Elizabeth, Martin, Nina C., Roeder, Kathryn M., Sinclair-McBride, Keneisha, Spinelli, Tawny

Journal:

Journal of Abnormal Child Psychology

Année:

2016

Langue:

english

Fichier:

PDF, 467 KB

english, 2016

3

A Stereo Music System as Environmental Enrichment for Captive Chimpanzees

Howell, Sue, Schwandt, Melanie, Fritz, Jo, Roeder, Elizabeth, Nelson, Christine

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 103 KB

english, 2003

4

Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype

Kosaki, Kenjiro, Curry, Cynthia J., Roeder, Elizabeth, Jones, Kenneth Lyons

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 201 KB

english, 1997

5

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

Année:

1998

Langue:

english

Fichier:

PDF, 213 KB

english, 1998

6

Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?

Enns, Gregory M., Roeder, Elizabeth, Chan, Ruth T., Ali-Khan Catts, Zohra, Cox, Victoria A., Golabi, Mahin

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 208 KB

english, 1999

7

Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome

Lin, Angela E., Semina, Elena V., Daack-Hirsch, Sandra, Roeder, Elizabeth R., Curry, Cynthia J.R., Rosenbaum, Kenneth, Weaver, David D., Murray, Jeffrey C.

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 134 KB

english, 2000

8

Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: Three additional cases

Alison M. Elliott, Elizabeth R. Roeder, David R. Witt, David L. Rimoin, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 742 KB

english, 2000

9

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

C. Dawn DeLozier-Blanchet, Elizabeth Roeder, Riccardo Denis-Arrue, Jean-Louis Blouin, Jackie Low, Jamie Fisher, David Scharnhorst, Cynthia J. Curry

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 252 KB

english, 2000

10

Neonatal phenotype in Kabuki syndrome

Keith K. Vaux, Louanne Hudgins, Lynne M. Bird, Elizabeth Roeder, Cynthia J.R. Curry, Marilyn Jones, Kenneth L. Jones

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 134 KB

english, 2005

11

Homozygous myotonic dystrophy: Clinical findings in two patients and review of the literature

Christine Zühlke, Elizabeth Roeder, Sabine Purmann, Dagmar Wieczorek, Cynthia Curry, Cheri Loustalet, Yorck Hellenbroich, Hans Helmut Richardt, Gabriele Gillessen-Kaesbach

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 161 KB

english, 2007

12

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

Frank J. Probst, Elizabeth R. Roeder, Victoria B. Enciso, Zhishuo Ou, M. Lance Cooper, Patricia Eng, Jiangzhen Li, Yanghong Gu, Robert F. Stratton, A. Craig Chinault, Chad A. Shaw, V. Reid Sutton, Sau

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 257 KB

english, 2007

13

Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

Courtney Sebold, Elizabeth Roeder, Marsha Zimmerman, Bridgette Soileau, Patricia Heard, Erika Carter, Martha Schatz, W. Abraham White, Brian Perry, Kent Reinker, Louise O'Donnell, Jack Lancaster, John

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 201 KB

english, 2010

14

The effect of DDT on sensory and motor structures in the cockroach leg

Kenneth D. Roeder, Elizabeth A. Weiant

Journal:

Journal of Cellular Physiology

Année:

1948

Langue:

english

Fichier:

PDF, 688 KB

english, 1948

15

HIGH-PRECISION BIOLOGICAL EVENT EXTRACTION: EFFECTS OF SYSTEM AND OF DATA

K. Bretonnel Cohen, Karin Verspoor, Helen L. Johnson, Chris Roeder, Philip V. Ogren, William A. Baumgartner Jr, Elizabeth White, Hannah Tipney, Lawr

Journal:

Computational Intelligence

Année:

2011

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2011

16

10.1038/2484

Brown, Stephen A., Warburton, Dorothy, Brown, Lucia Y., Yu, Chih-yu, Roeder, Elizabeth R., Stengel-Rutkowski, Sabine, Hennekam, Raoul C.M., Muenke, Maximilian

Journal:

Nature Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 195 KB

english, 1998

17

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 452 KB

english, 2010

18

Candidate gene analysis of femoral neck trabecular and cortical volumetric bone mineral density in older men

Laura M Yerges, Lambertus Klei, Jane A Cauley, Kathryn Roeder, Candace M Kammerer, Kristine E Ensrud, Cara S Nestlerode, Cora Lewis, Thomas F Lang, Elizabeth Barrett-Connor, Susan P Moffett, Andrew R

Journal:

Journal of Bone and Mineral Research

Année:

2010

Langue:

english

Fichier:

PDF, 203 KB

english, 2010

19

Metastatic medulloblastoma in an adolescent with Simpson–Golabi–Behmel syndrome

Martha Thomas, Victoria Enciso, Robert Stratton, Shafqat Shah, Thomas Winder, Marwan Tayeh, Elizabeth Roeder

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 73 KB

english, 2012

20

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

Ralf Krahe, Tetsuo Ashizawa, Claudia Abbruzzese, Elizabeth Roeder, Paul Carango, Manlio Giacanelli, Vicky L. Funanage, Michael J. Siciliano

Journal:

Année:

1995

Fichier:

PDF, 1017 KB

1995

21

Risk Factors for Perinatal Arterial Stroke: A Study of 60 Mother-Child Pairs

Cynthia J. Curry, Sundeep Bhullar, Jon Holmes, C. Dawn Delozier, Elizabeth R. Roeder, H. Terry Hutchison

Journal:

Pediatric Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 120 KB

english, 2007

22

MICRO syndrome: An entity distinct from COFS syndrome

John M. Graham Jr, Raoul Hennekam, William B. Dobyns, Elizabeth Roeder, David Busch

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 390 KB

english, 2004

23

Endogenous nerve activity and behaviour in the mantis and cockroach

Kenneth D. Roeder, Lillian Tozian, Elizabeth A. Weiant

Journal:

Journal of Insect Physiology

Année:

1960

Langue:

english

Fichier:

PDF, 1.88 MB

english, 1960

24

What determines cell size?

Wallace F Marshall, Kevin D Young, Matthew Swaffer, Elizabeth Wood, Paul Nurse, Akatsuki Kimura, Joseph Frankel, John Wallingford, Virginia Walbot, Xian Qu, Adrienne HK Roeder

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2012

25

A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries

Ma, Yuanhong, Wilson, Bonnie I., Bijvoet, Saskia, Henderson, Howard E., Cramb, Elizabeth, Roederer, Ghislaine, Ven Murthy, M.R., Julien, Pierre, Bakker, Henk D., Kastelein, John J.P., Brunzell, John D

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 927 KB

english, 1992

26

Clinical experience of long-term treatment with epidural and intrathecal opioids: a nationwide survey

Ma, Yuanhong, Wilson, Bonnie I., Bijvoet, Saskia, Henderson, Howard E., Cramb, Elizabeth, Roederer, Ghislaine, Ven Murthy, M.R., Julien, Pierre, Bakker, Henk D., Kastelein, John J.P., Brunzell, John D

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 120 KB

english, 1989

27

Cloning and Expression of cDNA for Human Poly(ADP-ribose) Polymerase

Hussein M. Alkhatib, Defeng Chen, Barry Cherney, Kishor Bhatia, Vicente Notario, Chandrakant Giri, Gary Stein, Elizabeth Slattery, Robert G. Roeder and Mark E. Smulson

Journal:

Proceedings of the National Academy of Sciences

Année:

1987

Langue:

english

Fichier:

PDF, 1.38 MB

english, 1987

28

TRANSOCEANIC SCHIZOPHRENIA

Wright, Marc-Oliver, Brudner, Corrinna, Newkirk, Elizabeth Ann, Cordts, Rachel, Heneghan, Kathleen, Roeder, Jennifer, Ayyad, Brook, Smith, Becky

Journal:

Année:

1974

Langue:

english

Fichier:

PDF, 153 KB

english, 1974

29

Leveraging Technology Through Rapid Cycle Feedback to Drive Performance Improvement in a Targeted High-risk Patient Population.

Wright, Marc-Oliver, Brudner, Corrinna, Newkirk, Elizabeth Ann, Cordts, Rachel, Heneghan, Kathleen, Roeder, Jennifer, Ayyad, Brook, Smith, Becky

Journal:

American Journal of Infection Control

Année:

2014

Langue:

english

Fichier:

PDF, 46 KB

english, 2014

30

Towards a physiologically based diagnosis of anorexia nervosa and bulimia nervosa

Hatch, Kent A, Spangler, Diane L, Backus, Elizabeth M, Blagna, Jonathon T, Burns, Keven S, Guzman, Brooke S, Hubbard, Matthew J, Lindblad, Stephanie L, Roeder, Beverly L, Ryther, Natalie E, Seawright,

Journal:

Expert Review of Molecular Diagnostics

Année:

2007

Langue:

english

Fichier:

PDF, 334 KB

english, 2007

31

A patient with a unique frameshift mutation in GPC3 , causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle

Villarreal, Diana D., Villarreal, Humberto, Paez, Ana Maria, Peppas, Dennis, Lynch, Jane, Roeder, Elizabeth, Powers, George C.

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 360 KB

english, 2013

32

A patient with a unique frameshift mutation in GPC3 , causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle-Am J Med Genet Part A 161A: 3121-3125

Villarreal, Diana D., Villarreal, Humberto, Paez, Ana Maria, Peppas, Dennis, Lynch, Jane, Roeder, Elizabeth, Powers, George C.

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 50 KB

english, 2014

33

Cataract in early onset and classic Cockayne syndrome

Ferreira, Rosane C., Roeder, Elizabeth R., Bateman, J. Bronwyn

Journal:

Ophthalmic Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1997

34

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai

Journal:

BMC Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2015

35

DETECTION OF NEUTRAL PHOSPHORUS IN THE NEAR-ULTRAVIOLET SPECTRA OF LATE-TYPE STARS

Roederer, Ian U., Jacobson, Heather R., Thanathibodee, Thanawuth, Frebel, Anna, Toller, Elizabeth

Journal:

The Astrophysical Journal

Année:

2014

Langue:

english

Fichier:

PDF, 478 KB

english, 2014

36

The Release of Efferent Nerve Activity in the Roach, Periplaneta americana, by Extracts of the Corpus Cardiacum

Nancy Milburn, Elizabeth A. Weiant and Kenneth D. Roeder

Journal:

Biological Bulletin

Année:

1960

Langue:

english

Fichier:

PDF, 381 KB

english, 1960

37

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9 , identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures

Smyk, Marta, Roeder, Elizabeth, Cheung, Sau Wai, Szafranski, Przemyslaw, Stankiewicz, Paweł

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 3.68 MB

english, 2015

38

Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome

Stevens, Cathy A., Roeder, Elizabeth R.

Journal:

Clinical Dysmorphology

Année:

2006

Langue:

english

Fichier:

PDF, 77 KB

english, 2006

39

Online social support for young people: Does it recapitulate in-person social support; can it help?

Cole, David A., Nick, Elizabeth A., Zelkowitz, Rachel L., Roeder, Kathryn M., Spinelli, Tawny

Journal:

Computers in Human Behavior

Année:

2017

Langue:

english

Fichier:

PDF, 462 KB

english, 2017

40

Thrombophilic Factors in Neonatal Stroke

Curry, Cynthia J, Roeder, Elizabeth R

Journal:

Pediatric Research

Année:

1999

Fichier:

PDF, 70 KB

1999

41

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne DG, Roney,

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 2.36 MB

english, 2015

42

LINE- and Alu -containing genomic instability hotspotat 16q24.1 associated with recurrent and nonrecurrent CNV deletionscausative for ACDMPV

Szafranski, Przemyslaw, Kośmider, Ewelina, Liu, Qian, Karolak, Justyna A., Currie, Lauren, Parkash, Sandhya, Kahler, Stephen G., Roeder, Elizabeth, Littlejohn, Rebecca O., DeNapoli, Thomas S., Shardon

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.16 MB

english, 2018

43

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T

Journal:

Genome Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2019

44

Î±-Synuclein-specific T cell reactivity is associated with preclinical and early Parkinsonâs disease

Lindestam Arlehamn, Cecilia S., Dhanwani, Rekha, Pham, John, Kuan, Rebecca, Frazier, April, Rezende Dutra, Juliana, Phillips, Elizabeth, Mallal, Simon, Roederer, Mario, Marder, Karen S., Amara, Amy W.

Journal:

Nature Communications

Année:

2020

Fichier:

PDF, 1.49 MB

2020

45

Detailed Iron-peak Element Abundances in Three Very Metal-poor Stars

Cowan, John J., Sneden, Christopher, Roederer, Ian U., Lawler, James E., Hartog, Elizabeth A. Den, Sobeck, Jennifer S., Boesgaard, Ann Merchant

Journal:

The Astrophysical Journal

Année:

2020

Fichier:

PDF, 945 KB

2020