Lane Rutledge: search on Z-Library

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1

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping

Jack Q. Ji, David Dimmock, Lin-Ya Tang, Maria Descartes, Roberto Gomez, S. Lane Rutledge, Eric S. Schmitt, Lee-Jun Wong

Journal:

Year:

2010

Language:

english

File:

PDF, 315 KB

english, 2010

2

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria D. Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf, Andrew J. Carroll

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 552 KB

english, 2011

3

Adrenoleukodystrophy and related disorders

Alan K. Percy, S. Lane Rutledge

Journal:

Development Diabilities Research Reviews

Year:

2001

Language:

english

File:

PDF, 423 KB

english, 2001

4

Tubulointerstitial nephritis in methylmalonic acidemia

S. Lane Rutledge, Michael Geraghty, Elizabeth Mroczek, David Rosenblatt, Ed Kohout

Journal:

Pediatric Nephrology

Year:

1993

Language:

english

File:

PDF, 339 KB

english, 1993

5

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Gouw, Launce G., Kaplan, Craig D., Haines, John H., Digre, Kathleen B., Rutledge, S. Lane, Matilla, Antoni, Leppert, Mark, Zoghbi, Huda Y., Ptácek, Louis J.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 460 KB

1995

6

SPECT abnormalities in generalized dystonia

Mark S. LeDoux, S. Lane Rutledge, James M. Mountz, Jaykrishna T. Darji

Journal:

Pediatric Neurology

Year:

1995

Language:

english

File:

PDF, 526 KB

english, 1995

7

Rasmussen syndrome and long-term response to gamma globulin

Merrill S. Wise, S.Lane Rutledge, Ruben I. Kuzniecky

Journal:

Pediatric Neurology

Year:

1996

Language:

english

File:

PDF, 782 KB

english, 1996

8

Chiari I malformation and neurofibromatosis type 1

Richard Shane Tubbs, S.Lane Rutledge, Anna Kosentka, Alfred A Bartolucci, Walter Jerry Oakes

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 44 KB

english, 2004

9

Abnormal White Matter in a Neurologically Intact Child With Incontinentia Pigmenti

Shannon A. Bryant, S. Lane Rutledge

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 264 KB

english, 2007

10

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency

Michael J Bennett, Richard L Boriack, Srinivas Narayan, S.Lane Rutledge, Michael L Raff

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 311 KB

english, 2004

11

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food

Steven Yannicelli, Phyllis B Acosta, Antonio Velazquez, Hans-Georg Bock, Barbara Marriage, Thaddeus W Kurczynski, Marvin Miller, Mark Korson, Robert D Steiner, Lane Rutledge, Laurie Bernstein, Jeffrey

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 178 KB

english, 2003

12

Neonatal hemodialysis: Effective therapy for the encephalopathy of inborn errors of metabolism

S. Lane Rutledge, Peter L. Havens, Morey W. Haymond, Robert H. McLean, Jean S. Kan, Saul W. Brusilow

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 382 KB

english, 1990

13

Neurologic complications of immunizations

S. Lane Rutledge, O. Carter Snead III

Journal:

The Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 684 KB

english, 1986

14

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

Gerald Hoefler, Sigrid Hoefler, Paul A. Watkins, Winston W. Chen, Ann Moser, Virginia Baldwin, B. McGillivary, Joel Charrow, J.M. Friedman, Lane Rutledge, Takashi Hashimoto, Hugo W. Moser

Journal:

The Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 1.25 MB

english, 1988

15

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Mikhail, Fady M., Burnside, Rachel D., Rush, Brooke, Ibrahim, Jennifer, Godshalk, Robin, Rutledge, S. Lane, Robin, Nathaniel H., Descartes, Maria D., Carroll, Andrew J.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1.36 MB

english, 2014

16

Pyruvate carboxylase deficiency: Acute exacerbation after ACTH treatment of infantile spasms

Lane Rutledge, S., Carter^Snead, O., Kelly, David R., Kerr, Douglas S., Swann, John W., Spink, David L., Martin, David L.

Journal:

Pediatric Neurology

Year:

1989

Language:

english

File:

PDF, 426 KB

english, 1989

17

Directly Repeated Sequences Associated with Pathogenic Mitochondrial DNA Deletions

Donald R. Johns, S. Lane Rutledge, O. Colin Stine and Orest Hurko

Journal:

Proceedings of the National Academy of Sciences

Year:

1989

Language:

english

File:

PDF, 1.08 MB

english, 1989

18

Heteroplasmy in Chronic External Ophthalmoplegia: Clinical and Molecular Observations

Hurko, Orest, Johns, Donald R, Rutledge, S Lane, Stine, O Colin, Peterson, Patti L, Miller, Neil R, Martens, Margaret E, Drachman, Daniel B, Brown, Robert H, Lee, C P

Journal:

Pediatric Research

Year:

1990

Language:

english

File:

PDF, 6.22 MB

english, 1990

19

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.09 MB

english, 2015

20

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

Hollenbeck, Dana, Williams, Crescenda L., Drazba, Kathryn, Descartes, Maria, Korf, Bruce R., Rutledge, S. Lane, Lose, Edward J., Robin, Nathaniel H., Carroll, Andrew J., Mikhail, Fady M.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 3.08 MB

english, 2016

21

10.1071/RD04026

Fischer-Brown, A. E., Lindsey, B. R., Ireland, F. A., Northey, D. L., Monson, R. L., Clark, S. G., Wheeler, M. B., Kesler, D. J., Lane, S. J., Weigel, K. A., Rutledge, J. J.

Journal:

Reproduction Fertility and Development

Year:

2004

Language:

english

File:

PDF, 827 KB

english, 2004

22

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelk

Journal:

Frontiers in Neurology

Year:

2016

Language:

english

File:

PDF, 1.46 MB

english, 2016

23

Coordinated Approaches to Strengthen State and Local Public Health Actions to Prevent Obesity, Diabetes, and Heart Disease and Stroke

Rutledge, Gia E., Lane, Kimberly, Merlo, Caitlin, Elmi, Joanna

Journal:

Preventing Chronic Disease

Year:

2018

Language:

english

File:

PDF, 283 KB

english, 2018