Puffenberger, E. G. : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (88)
Les plus populaires
Liste
- Liste
- Tableau

1

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Dietz, Harry C., Cutting, Carry R., Pyeritz, Reed E., Maslen, Cheryl L., Sakai, Lynn Y, Corson, Glen M, Puffenberger, Erik G., Hamosh, Ada, Nanthakumar, Elizabeth J., Curristin, Sheila M.

Journal:

Année:

1991

Fichier:

PDF, 453 KB

1991

2

Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria

Richard I. Kelley, Donna Robinson, Erik G. Puffenberger, Kevin A. Strauss, D. Holmes Morton

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 192 KB

english, 2002

3

Classical maple syrup urine disease and brain development: Principles of management and formula design

Kevin A. Strauss, Bridget Wardley, Donna Robinson, Christine Hendrickson, Nicholas L. Rider, Erik G. Puffenberger, Diana Shelmer, Ann B. Moser, D. Holmes Morton

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 871 KB

english, 2010

4

Index of Suspicion in The Nursery * Case 1: Lethargy, Stiffening, and Poor Feeding of Term Infant at 21/2 Days of Age * Case 2: A Macrosomic Term Infant with Low Blood Glucose

Duis, J. B., Martin, J., Gropman, A., Puffenberger, E., Desai, P., Najaf, T.

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 692 KB

english, 2011

5

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 513 KB

english, 2015

6

SPIE Proceedings [SPIE SPIE LASE - San Francisco, California, United States (Saturday 13 February 2016)] Free-Space Laser Communication and Atmospheric Propagation XXVIII - Development, testing and initial space qualification of 1.5-μm high-power (6W) pulse-position-modulated (PPM) fiber laser transmitter for deep-space laser communication

Hemmati, Hamid, Boroson, Don M., Gupta, Shantanu, Engin, Doruk, Pachowicz, Dave, Fouron, Jean-Luc, Lander, Juan, Dang, Xung, Litvinovich, Slava, Chuang, Ti, Puffenberger, Kent, Kimpel, Frank, Utano, R

Année:

2016

Langue:

english

Fichier:

PDF, 1.39 MB

english, 2016

7

Development, testing, and initial space qualification of 1.5- μ m, high-power (6 W), pulse-position-modulated fiber laser transmitter for deep-space laser communication

Gupta, Shantanu, Engin, Doruk, Pachowicz, Dave, Fouron, Jean-Luc, Lander, Juan, Dang, Xung, Litvinovitch, Slava, Chuang, Ti, Puffenberger, Kent, Kimpel, Frank, Utano, Rich, Wright, Malcolm

Journal:

Optical Engineering

Année:

2016

Langue:

english

Fichier:

PDF, 6.01 MB

english, 2016

8

Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: Longitudinal risk and disease management

Nicholas L. Rider, Kevin A. Strauss, Krysta Brown, Armin Finkenstedt, Erik G. Puffenberger, Christine L. Hendrickson, Donna L. Robinson, Nikolas Muenke, Chris Tselepis, Lauren Saunders, Heinz Zoller,

Journal:

American Journal of Hematology

Année:

2011

Langue:

english

Fichier:

PDF, 2.03 MB

english, 2011

9

Genome-wide SNP arrays as a diagnostic tool: Clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population

Kevin A. Strauss, Erik G. Puffenberger, David W. Craig, Corrie B. Panganiban, Anne M. Lee, Diane Hu-Lince, Dietrich A. Stephan, D. Holmes Morton

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 164 KB

english, 2005

10

Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements

Heng Wang, Leah Nye, Erik Puffenberger, Holmes Morton

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 78 KB

english, 2007

11

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

Baozhong Xin, Erik Puffenberger, John Tumbush, J.R. Bockoven, Heng Wang

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 151 KB

english, 2007

12

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

Kym M. Boycott, Chandree Beaulieu, Erik G. Puffenberger, D. Ross McLeod, Jillian S. Parboosingh, A. Micheil Innes

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 308 KB

english, 2010

13

Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

E.G. Puffenberger

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 205 KB

english, 2003

14

Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania

D. Holmes Morton, Caroline S. Morton, Kevin A. Strauss, Donna L. Robinson, Erik G. Puffenberger, Christine Hendrickson, Richard I. Kelley

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 133 KB

english, 2003

15

Type I glutaric aciduria, part 1: Natural history of 77 patients

Kevin A. Strauss, Erik G. Puffenberger, Donna L. Robinson, D. Holmes Morton

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 465 KB

english, 2003

16

Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease

Kevin A. Strauss, Donna L. Robinson, Hendrik J. Vreman, Erik G. Puffenberger, Graham Hart, D. Holmes Morton

Journal:

European Journal of Pediatrics

Année:

2006

Langue:

english

Fichier:

PDF, 370 KB

english, 2006

17

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot–Marie–Tooth disease in an Amish family

B Xin, E Puffenberger, L Nye, M Wiznitzer, H Wang

Journal:

Clinical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 252 KB

english, 2008

18

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

AM Innes, KM Boycott, EG Puffenberger, D Redl, IM MacDonald, AE Chudley, C Beaulieu, R Perrier, T Gillan, A Wade, JS Parboosingh

Journal:

Clinical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 802 KB

english, 2010

19

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

Angrist, Misha, Kauffman, Erick, Slaugenhaupt, Susan A., Cox Matise, Tara, Puffenberger, Erik G., Shaw Washington, Sarah, Lipson, Anthony, Cass, Daniel T., Reyna, Troy, Weeks, Daniel E.

Journal:

Nature Genetics

Année:

1993

Fichier:

PDF, 676 KB

1993

20

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT

Carlton, Victoria E. H., Harris, Baruch Z., Puffenberger, Erik G., Batta, A. K., Knisely, A. S., Robinson, Donna L., Strauss, Kevin A., Shneider, Benjamin L., Lim, Wendell A., Salen, Gerald

Journal:

Nature Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 167 KB

english, 2003

21

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

Carrasquillo, Minerva M., McCallion, Andrew S., Puffenberger, Erik G., Kashuk, Carl S., Nouri, Nassim, Chakravarti, Aravinda

Journal:

Nature Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 237 KB

english, 2002

22

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

Eric A. Sherman, Kevin A. Strauss, Silvia Tortorelli, Michael J. Bennett, Ina Knerr, D. Holmes Morton, Erik G. Puffenberger

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 388 KB

english, 2008

23

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. Litchfield, Matthew B. Lanktree, Gregory B. Gloor, Erik G. Puffenberger, Kevin A. Strauss, Mildred B. Martens, David A. Ramsay, C.

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 2.05 MB

english, 2009

24

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. Litchfield, Matthew B. Lanktree, Gregory B. Gloor, Erik G. Puffenberger, Kevin A. Strauss, Mildred B. Martens, David A. Ramsay, C.

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 28 KB

english, 2009

25

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

Anjali M. Rajadhyaksha, Olivier Elemento, Erik G. Puffenberger, Kathryn C. Schierberl, Jenny Z. Xiang, Maria L. Putorti, José Berciano, Chantal Poulin, Bernard Brais, Michel Michaelides, Richard G. We

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2010

26

Clinical application of DNA microarrays: Molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency

Kevin A. Strauss, Erik G. Puffenberger, Nancy Bunin, Nicholas L. Rider, Mary C. Morton, James T. Eastman III, D. Holmes Morton

Journal:

Clinical Immunology

Année:

2008

Langue:

english

Fichier:

PDF, 3.13 MB

english, 2008

27

Immunologic and clinical features of 25 Amish patients with RMRP 70 A → G cartilage hair hypoplasia

Nicholas L. Rider, D. Holmes Morton, Erik Puffenberger, Christine L. Hendrickson, Donna L. Robinson, Kevin A. Strauss

Journal:

Clinical Immunology

Année:

2009

Langue:

english

Fichier:

PDF, 872 KB

english, 2009

28

Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

K. A. Strauss, G. V. Mazariegos, R. Sindhi, R. Squires, D. N. Finegold, G. Vockley, D. L. Robinson, C. Hendrickson, M. Virji, L. Cropcho, E. G. Puffenberger, W. McGhee, L. M. Seward, D. H. Morton

Journal:

American Journal of Transplantation

Année:

2006

Langue:

english

Fichier:

PDF, 313 KB

english, 2006

29

Identification of disease causing loci using an array-based genotyping approach on pooled DNA

David W Craig, Matthew J Huentelman, Diane Hu-Lince, Victoria L Zismann, Michael C Kruer, Anne M Lee, Erik G Puffenberger, John M Pearson, Dietrich A Stephan

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 671 KB

english, 2005

30

Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates

Elizabeth A. Streeten, Daniel McBride, Eric Puffenberger, Marc E. Hoffman, Toni I. Pollin, Patrick Donnelly, Paul Sack, Holmes Morton

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 450 KB

english, 2008

31

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency

Kevin A. Strauss, D. Holmes Morton, Erik G. Puffenberger, Christine Hendrickson, Donna L. Robinson, Conrad Wagner, Sally P. Stabler, Robert H. Allen, Grazyna Chwatko, Hieronim Jakubowski, Mihai D. Nic

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 830 KB

english, 2007

32

Corrigendum to “Classical maple syrup urine disease and brain development: Principles of management and formula design” [Mol. Genet. Metab. 99 (2010) 333–345]

Kevin A. Strauss, Bridget Wardley, Donna Robinson, Christine Hendrickson, Nicholas L. Rider, Erik G. Puffenberger, Diana Shellmer, Ann B. Moser, D. Holmes Morton

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 86 KB

english, 2011

33

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

Kevin A. Strauss, Joan Brumbaugh, Alana Duffy, Bridget Wardley, Donna Robinson, Christine Hendrickson, Silvia Tortorelli, Ann B. Moser, Erik G. Puffenberger, Nicholas L. Rider, D. Holmes Morton

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2011

34

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites

Stacey Bolk, Erik G. Puffenberger, Jim Hudson, D. Holmes Morton, Aravinda Chakravarti

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 572 KB

english, 1999

35

Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho-Kere, Nili Avidan, Simone Gentles, Jeffrey R. MacDonald, Erik G. Puffenberger, Angela M. Christiano, Amalia Martinez-Mir, Julio C. Salas-Al

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 4.40 MB

english, 2005

36

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

Puffenberger, Erik G., Jinks, Robert N., Wang, Heng, Xin, Baozhong, Fiorentini, Christopher, Sherman, Eric A., Degrazio, Dominick, Shaw, Calvin, Sougnez, Carrie, Cibulskis, Kristian, Gabriel, Stacey,

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 517 KB

english, 2012

37

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

Erik G. Puffenberger, Kiminori Hosoda, Sarah S. Washington, Kazuwa Nakao, Damiane deWit, Masashi Yanagisawa, Aravinda Chakravarti

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.74 MB

english, 1994

38

Rapid Identification of a Bone Marrow Donor Within a Family Using Single Nucleotide Polymorphisms (SNPs)

RIDER, N, STRAUSS, K, PUFFENBERGER, E, MORTON, D

Journal:

Journal of Allergy and Clinical Immunology

Année:

2008

Langue:

english

Fichier:

PDF, 44 KB

english, 2008

39

Abnormal Hepatic Sinusoidal Bile Acid Transport in an Amish Kindred Is Not Linked to FIC1 and Is Improved by Ursodiol

D.Holmes Morton*, Gerald Salen‡, §, A.K. Batta‡, Sarah Shefer‡, G.Stephen Tint‡, §, Deborah Belchis‖, Benjamin Shneider¶, Erik Puffenberger*, Laura Bull#, A.S. Knisely**

Journal:

Gastroenterology

Année:

2000

Langue:

english

Fichier:

PDF, 345 KB

english, 2000

40

A Controlled Trial of Working Memory Training for Children and Adolescents with ADHD

Beck, Steven J., Hanson, Christine A., Puffenberger, Synthia S., Benninger, Kristen L., Benninger, William B.

Journal:

Journal of Clinical Child & Adolescent Psychology

Année:

2010

Langue:

english

Fichier:

PDF, 148 KB

english, 2010

41

Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

Strauss, Kevin A., Puffenberger, Erik G., Huentelman, Matthew J., Gottlieb, Steven, Dobrin, Seth E., Parod, Jennifer M., Stephan, Dietrich A., Morton, D. Holmes

Journal:

Boston Medical and Surgical Journal

Année:

2006

Langue:

english

Fichier:

PDF, 623 KB

english, 2006

42

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Bögershausen, Nina, Shahrzad, Nassim, Chong, Jessica X., von Kleist-Retzow, Jürgen-Christoph, Stanga, Daniela, Li, Yun, Bernier, Francois P., Loucks, Catrina M., Wirth, Radu, Puffenberger, Eric G., He

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.58 MB

english, 2013

43

Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities

Ferkol, Thomas W., Puffenberger, Erik G., Lie, Hauw, Helms, Cynthia, Strauss, Kevin A., Bowcock, Anne, Carson, John L., Hazucha, Milan, Morton, D. Holmes, Patel, Anand C., Leigh, Margaret W., Knowles,

Journal:

The Journal of Pediatrics

Année:

2013

Langue:

english

Fichier:

PDF, 322 KB

english, 2013

44

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

Bhattacharjee, Arindam, Sokolsky, Tanya, Wyman, Stacia K., Reese, Martin G., Puffenberger, Erik, Strauss, Kevin, Morton, Holmes, Parad, Richard B., Naylor, Edwin W.

Journal:

Genetics in Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2015

45

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

Strauss, Kevin A., Jinks, Robert N., Puffenberger, Erik G., Venkatesh, Sundararajan, Singh, Kamalendra, Cheng, Iteen, Mikita, Natalie, Thilagavathi, Jayapalraja, Lee, Jae, Sarafianos, Stefan, Benkert,

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.49 MB

english, 2015

46

A comparative study of rate evaluations of experienced and inexperienced listeners

Lass, Norman J., Puffenberger, Marcia D.

Journal:

Quarterly Journal of Speech

Année:

1971

Langue:

english

Fichier:

PDF, 332 KB

english, 1971

47

Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients

Morton, D. H., Strauss, K. A., Robinson, D. L., Puffenberger, E. G., Kelley, R. I.

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 459 KB

english, 2002

48

Genetics, Medicine, and the Plain People

Strauss, Kevin A., Puffenberger, Erik G.

Journal:

Annual Review of Genomics and Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 2.13 MB

english, 2009

49

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

G.Puffenberger, Erik, R.Kauffman, Erick, Bolk, Stacey, C.Matise, Tara, S.Washington, Sarah, Angrist, Misha, Weissenbach, Jean, L.Garver, Kenneth, Mascari, Maria, Ladda, Roger, A.SIaugenhaupt, Susan, C

Journal:

Human Molecular Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 4.09 MB

english, 1994

50

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

Xin, B., Jones, S., Puffenberger, E. G., Hinze, C., Bright, A., Tan, H., Zhou, A., Wu, G., Vargus-Adams, J., Agamanolis, D., Wang, H.

Journal:

Proceedings of the National Academy of Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 809 KB

english, 2011