N Carolyn Schanen: search on Z-Library

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1

Rett syndrome: Revised diagnostic criteria and nomenclature

Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, John Christodoulou, Angus J. Clarke, Nadia Bahi-Buisson, Helen Leonard, Mark E. S. Bailey, N. Carolyn Schanen, Michele Zappella, Alessandra Renier

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

2

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

Urraca, Nora, Cleary, Julie, Brewer, Victoria, Pivnick, Eniko K., McVicar, Kathryn, Thibert, Ronald L., Schanen, N. Carolyn, Esmer, Carmen, Lamport, Dustin, Reiter, Lawrence T.

Journal:

Autism Research

Year:

2013

Language:

english

File:

PDF, 3.27 MB

english, 2013

3

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

G.S. Tint, Gerald Salen, Ashok K. Batta, Sarah Shefer, Mira Irons, Ellen Roy Elias, Dianne N. Abuelo, Virginia P. Johnson, Marie Lambert, Richard Lutz, Carolyn Schanen, Colleen A. Morris, George Hogan

Journal:

The Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 641 KB

english, 1995

4

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

Amber Hogart, David Wu, Janine M. LaSalle, N. Carolyn Schanen

Journal:

Neurobiology of Disease

Year:

2010

Language:

english

File:

PDF, 581 KB

english, 2010

5

Frasier Syndrome Comes Full Circle: Genetic Studies Performed in an Original Patient

Nicholas J. Wang, Hae-Ri Song, N. Carolyn Schanen, Neil L. Litman, S. Douglas Frasier

Journal:

The Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 135 KB

english, 2005

6

A Single-Tube Quantitative High-Resolution Melting Curve Method for Parent-of-Origin Determination of 15q Duplications

Urraca, Nora, Davis, Lea, Cook, Edwin H., Schanen, N. Carolyn, Reiter, Lawrence T.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 1.45 MB

english, 2010

7

Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism

Wegiel, Jerzy, Schanen, N. Carolyn, Cook, Edwin H., Sigman, Marian, Brown, W. Ted, Kuchna, Izabela, Nowicki, Krzysztof, Wegiel, Jarek, Imaki, Humi, Ma, Shuang Yong, Marchi, Elaine, Wierzba-Bobrowicz,

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2012

Language:

english

File:

PDF, 1.47 MB

english, 2012

8

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation

Sara Hammer, Naghmeh Dorrani, Jaana Hartiala, Stuart Stein, N. Carolyn Schanen

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 62 KB

english, 2003

9

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

Chapleau, Christopher A., Lane, Jane, Kirwin, Susan M., Schanen, Carolyn, Vinette, Kathy M.B., Stubbolo, Danielle, MacLeod, Patrick, Percy, Alan K.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 312 KB

english, 2013

10

Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome

Carolyn Schanen, Elisa J.F. Houwink, Naghmeh Dorrani, Jane Lane, Ruth Everett, Alice Feng, Rita M. Cantor, Alan Percy

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 249 KB

english, 2004

11

Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP

Friedman, Daniel, Thaler, Alison, Thaler, Jonathan, Rai, Samhitha, Cook, Edwin, Schanen, Carolyn, Devinsky, Orrin

Journal:

Epilepsy & Behavior

Year:

2016

Language:

english

File:

PDF, 315 KB

english, 2016

12

Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome

Heidary, Gena, Hampton, Lori L., Schanen, N. Carolyn, Rivkin, Michael J., Darras, Basil T., Battey, James, Francke, Uta

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 45 KB

english, 1998

13

Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications

Wegiel, Jerzy, Flory, Michael, Schanen, N. Carolyn, Cook, Edwin H., Nowicki, Krzysztof, Kuchna, Izabela, Imaki, Humi, Ma, Shuang Yong, Wegiel, Jarek, London, Eric, Casanova, Manuel F., Wisniewski, Tho

Journal:

Acta Neuropathologica Communications

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

14

Pathophysiological Mechanisms for Actions of the Neurotrophins

Jeffery L. Twiss, Jay H. Chang, N. Carolyn Schanen

Journal:

Brain Pathology

Year:

2006

Language:

english

File:

PDF, 303 KB

english, 2006

15

The Genetic Basis of Rett Syndrome: Candidate Gene Considerations

Alan K. Percy, Carolyn Schanen, Leon S. Dure IV

Journal:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 68 KB

english, 1998

16

Rethinking the fate of males with mutations in the gene that causes Rett syndrome

Carolyn Schanen

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 54 KB

english, 2001

17

Unrelated umbilical cord stem cell transplantation for X-linked immunodeficiencies

Ulrike H.M. Ziegner, Hans D. Ochs, Carolyn Schanen, Stephen A. Feig, Kuniaki Seyama, Takeshi Futatani, Thomas Gross, Mary Wakim, Robert L. Roberts, David J. Rawlings, Sinisa Dovat, John K. Fraser, E.R

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 257 KB

english, 2001

18

A survey of seizures and current treatments in 15q duplication syndrome

Conant, Kerry D., Finucane, Brenda, Cleary, Nicole, Martin, Ashley, Muss, Candace, Delany, Mary, Murphy, Erin K., Rabe, Olivia, Luchsinger, Kadi, Spence, Sarah J., Schanen, Carolyn, Devinsky, Orrin, C

Journal:

Year:

2014

Language:

english

File:

PDF, 147 KB

english, 2014

19

Differential distribution of the MeCP2 splice variants in the postnatal mouse brain

Joanna M. Dragich, Yong-Hwan Kim, Arthur P. Arnold, N. Carolyn Schanen

Journal:

The Journal of Comparative Neurology

Year:

2007

Language:

english

File:

PDF, 6.75 MB

english, 2007

20

Nerve growth factor stimulates the tyrosine phosphorylation of MAP2 kinase in PC12 cells

Schanen-King, Carolyn, Nel, Andre, Williams, L.Katherine, Landreth, Gary

Journal:

Year:

1991

Language:

english

File:

PDF, 2.10 MB

english, 1991

21

Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11–q13

Alexander S. Parokonny, Nicholas J. Wang, Jennette Driscoll, Michael Cuccaro, Chantell Wolpert, Barbara M. Malone, N. Carolyn Schanen

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 182 KB

english, 2007

22

Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems

Shinichi Kudo, Yoshiko Nomura, Masaya Segawa, Naoyuki Fujita, Mitsuyoshi Nakao, Joanna Dragich, Carolyn Schanen, Masahide Tamura

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 344 KB

english, 2001

23

Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

Nicholas J Wang, Alexander S Parokonny, Karen N Thatcher, Jennette Driscoll, Barbara M Malone, Naghmeh Dorrani, Marian Sigman, Janine M LaSalle, N Carolyn Schanen

Journal:

Year:

2008

Language:

english

File:

PDF, 980 KB

english, 2008

24

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman, N Carolyn Schanen

Journal:

Molecular Cytogenetics

Year:

2009

Language:

english

File:

PDF, 1.24 MB

english, 2009

25

Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial

Irons, Mira, Elias, Ellen R., Abuelo, Diane, Bull, Marilyn J., Greene, Carol L., Johnson, Virginia P., Keppen, Laura, Schanen, Carolyn, Tint, G. Stephen, Salen, Gerald

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 169 KB

english, 1997

26

Isolation and characterization of microtubule-associated protein 2 (MAP2) kinase from rat brain

Schanen, N.Carolyn, Landreth, Gary

Journal:

Molecular Brain Research

Year:

1992

Language:

english

File:

PDF, 849 KB

english, 1992

27

Identification of a New Polymorphism in the 3′-Untranslated Region of the Human Serotonin Receptor 2C (5-HT2C) Gene

Hae-Ri Song, Arthur Gu, N.Carolyn Schanen

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 41 KB

english, 1999

28

Limited availability of ZBP1 restricts axonal mRNA localization and nerve regeneration capacity

Donnelly, Christopher J, Willis, Dianna E, Xu, Mei, Tep, Chhavy, Jiang, Chunsu, Yoo, Soonmoon, Schanen, N Carolyn, Kirn-Safran, Catherine B, van Minnen, Jan, English, Arthur, Yoon, Sung Ok, Bassell, G

Journal:

The EMBO Journal

Year:

2011

Language:

english

File:

PDF, 2.25 MB

english, 2011

29

The phenotypic consequences of MECP2 mutations extend beyond rett syndrome

Sara Hammer, Naghmeh Dorrani, Joanna Dragich, Shinichi Kudo, Carolyn Schanen

Journal:

Development Diabilities Research Reviews

Year:

2002

Language:

english

File:

PDF, 127 KB

english, 2002

30

PC12 cells regulate inducible cyclic AMP (cAMP) element repressor expression to differentially control cAMP response element-dependent transcription in response to nerve growth factor and cAMP

Jay H. Chang, Deepika Vuppalanchi, Erna Van Niekerk, Jane B. Trepel, N. Carolyn Schanen, Jeffery L. Twiss

Journal:

Journal of Neurochemistry

Year:

2006

Language:

english

File:

PDF, 877 KB

english, 2006

31

A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map

N. Carolyn Schanen, E. Jill Roth Dahle, Fiorentino Capozzoli, Vanja A. Holm, Huda Y. Zoghbi, Uta Francke

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 419 KB

english, 1997

32

Variable phenotypic expression of aMECP2mutation in a family

Kimberly Augenstein, Jane B. Lane, Antony Horton, Carolyn Schanen, Alan K. Percy

Journal:

Journal of Neurodevelopmental Disorders

Year:

2009

Language:

english

File:

PDF, 99 KB

english, 2009

33

A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map

Carolyn Schanen, Uta Francke

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 81 KB

english, 1998

34

Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome

Alexis A. Thompson, Kelly Woodruff, Stephen A. Feig, Long T. Nguyen, N. Carolyn Schanen

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 233 KB

english, 2001

35

High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage

Nicholas J. Wang, Dahai Liu, Alexander S. Parokonny, N. Carolyn Schanen

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.34 MB

english, 2004

36

The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism

Frackowiak, Janusz, Mazur-Kolecka, Bozena, Schanen, Carolyn N, Brown, Ted W, Wegiel, Jerzy

Journal:

Acta Neuropathologica Communications

Year:

2013

Language:

english

File:

PDF, 2.03 MB

english, 2013

37

Erratum to “Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646

Chapleau, Christopher A., Lane, Jane, Kirwin, Susan, Schanen, Carolyn, Vinette, Kathy M. B., Stubbolo, Danielle, MacLeod, Patrick, Glaze, Daniel G., Motil, Kathleen J., Neul, Jeffrey L., Skinner, Stev

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 58 KB

english, 2014

38

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

Mimi Wan, Stephen Sung Jae Lee, Xianyu Zhang, Isa Houwink-Manville, Hae-Ri Song, Ruthie E. Amir, Sarojini Budden, SakkuBai Naidu, Jose Luiz P. Pereira, Ivan F.M. Lo, Huda Y. Zoghbi, N. Carolyn Schanen

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 527 KB

english, 1999

39

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Mnatzakanian, Gevork N, Lohi, Hannes, Munteanu, Iulia, Alfred, Simon E, Yamada, Takahiro, MacLeod, Patrick J M, Jones, Julie R, Scherer, Stephen W, Schanen, N Carolyn, Friez, Michael J

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 607 KB

english, 2004

40

Abnormal Intracellular Accumulation and Extracellular Aβ Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum Disorders

Wegiel, Jerzy, Frackowiak, Janusz, Mazur-Kolecka, Bozena, Schanen, N. Carolyn, Cook, Edwin H., Sigman, Marian, Brown, W. Ted, Kuchna, Izabela, Wegiel, Jarek, Nowicki, Krzysztof, Imaki, Humi, Ma, Shuan

Journal:

Year:

2012

Language:

english

File:

PDF, 19.84 MB

english, 2012

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