Gambello, Michael J. : rechercher sur Z-Library

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Articles (59)
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1

Current strategies for the treatment of inborn errors of metabolism

Gambello, Michael J., Li, Hong

Journal:

Journal of Genetics and Genomics

Année:

2018

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2018

2

Exercise intolerance associated with a novel 8300t>C mutation in mitochondrial transfer RNAlys

Michael J. Gambello, Ren-Kui Bai, Tian-Jian Chen, Mazen Dimachkie, Lee-Jun C. Wong

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 311 KB

english, 2006

3

Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes

Albizua, Igor, Chopra, Pankaj, Sherman, Stephanie L, Gambello, Michael J, Warren, Stephen T

Journal:

Human Molecular Genetics

Année:

2019

Fichier:

PDF, 605 KB

2019

4

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

Murphy, Melissa M., Burrell, T. Lindsey, Cubells, Joseph F., Epstein, Michael T., Espana, Roberto, Gambello, Michael J., Goines, Katrina, Klaiman, Cheryl, Koh, Sookyong, Russo, Rossana Sanchez, Saulni

Journal:

Année:

2020

Fichier:

PDF, 603 KB

2020

5

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T. Noblin, Carlos A. Bacino, Michael J. Gambello

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 203 KB

english, 2005

6

Mortality in achondroplasia study: A 42-year follow-up

Julia Wynn, Terri M. King, Michael J. Gambello, D. Kim Waller, Jacqueline T. Hecht

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 140 KB

english, 2007

7

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

David P. Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, Gregory M. Rice, Jon A. Wolff, William E. O'

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 68 KB

english, 2008

8

Survival of Texas infants born with trisomies 21, 18, and 13

Catherine Vendola, Mark Canfield, Stephen P. Daiger, Michael Gambello, S. Shahrukh Hashmi, Terri King, Sarah J. Noblin, D. Kim Waller, Jacqueline T. Hecht

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 102 KB

english, 2010

9

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

David P. Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, William E. O'Brien, Ping Fang

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 40 KB

english, 2010

10

Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996–2002

Tasneem Husain, Peter H. Langlois, Lowell E. Sever, Michael J. Gambello

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2008

Langue:

english

Fichier:

PDF, 81 KB

english, 2008

11

Generation of a conditional disruption of the Tsc2 gene

Omar Hernandez, Sharon Way, James McKenna III, Michael J. Gambello

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2007

12

Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration

R. Michelle Reith, Sharon Way, James McKenna III, Katherine Haines, Michael J. Gambello

Journal:

Neurobiology of Disease

Année:

2011

Langue:

english

Fichier:

PDF, 2.46 MB

english, 2011

13

Murine modelling of classical lissencephaly

Michael J. Gambello, Shinji Hirotsune, Anthony Wynshaw-Boris

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 321 KB

english, 1999

14

10.1038/1221

Wynshaw-Boris, Anthony, Hirotsune, Shinji, Fleck, Mark W., Gambello, Michael J., Bix, Gregory J., Chen, Amy, Clark, Gary D., Ledbetter, David H., McBain, Chris J.

Journal:

Nature Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 629 KB

english, 1998

15

10.1038/35041000

Tsai, Li-Huei, Smith, Deanna S., Niethammer, Martin, Ayala, Ramses, Zhou, Ying, Gambello, Michael J., Wynshaw-Boris, Anthony

Journal:

Nature Cell Biology

Année:

2000

Langue:

english

Fichier:

PDF, 6.02 MB

english, 2000

16

14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome

Toyo-oka, Kazuhito, Shionoya, Aki, Gambello, Michael J, Cardoso, Carlos, Leventer, Richard, Ward, Heather L, Ayala, Ramses, Tsai, Li-Huei, Dobyns, William, Ledbetter, David

Journal:

Nature Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 4.61 MB

english, 2003

17

Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex

Itzamarie Chévere-Torres, Hanoch Kaphzan, Aditi Bhattacharya, Areum Kang, Jordan M. Maki, Michael J. Gambello, Jack L. Arbiser, Emanuela Santini, Eric Klann

Journal:

Neurobiology of Disease

Année:

2012

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2012

18

The Apical Complex Couples Cell Fate and Cell Survival to Cerebral Cortical Development

Seonhee Kim, Maria K. Lehtinen, Alessandro Sessa, Mauro W. Zappaterra, Seo-Hee Cho, Dilenny Gonzalez, Brigid Boggan, Christina A. Austin, Jan Wijnholds, Michael J. Gambello, Jarema Malicki, Anthony S.

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 3.73 MB

english, 2010

19

A LIS1/NUDEL/Cytoplasmic Dynein Heavy Chain Complex in the Developing and Adult Nervous System

Shinji Sasaki, Aki Shionoya, Michiyo Ishida, Michael J. Gambello, Jessica Yingling, Anthony Wynshaw-Boris, Shinji Hirotsune

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 1.96 MB

english, 2000

20

Stress and Well-Being Among Parents of Children with Potocki-Lupski Syndrome

Carter, Rebecca D., Raia, Marianna, Ewing-Cobbs, Linda, Gambello, Michael, Hashmi, S. Shahrukh, Peterson, Susan K., Robbins-Furman, Patricia, Potocki, Lorraine

Journal:

Journal of Genetic Counseling

Année:

2013

Langue:

english

Fichier:

PDF, 253 KB

english, 2013

21

AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome

Lindhurst, Marjorie J, Wang, Ji-an, Bloomhardt, Hadley M, Witkowski, Alison M, Singh, Larry N, Bick, David P, Gambello, Michael J, Powell, Cynthia M, Lee, Chyi-Chia Richard, Darling, Thomas N, Bieseck

Journal:

The Journal of Investigative Dermatology

Année:

2014

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2014

22

Dilemma of predicting type I or III disease in the presence of a novel GBA mutation in combination with a RecNciI mutation in a young patient with Gaucher disease

Propst, Jennifer, Gambello, Michael J.

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 49 KB

english, 2014

23

Evaluation of glycosphingolipid clearance in patients with Fabry disease treated with agalsidase alfa who switched to agalsidase beta (the INFORM study)

Barranger, John A., Gambello, Michael J., Goker-Alpan, Ozlem, Maegawa, Gustavo H.B., Nedd, Khan J., Gruskin, Daniel J., Blankstein, Larry, Weinreb, Neal J.

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 48 KB

english, 2014

24

Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex

Reith, R. Michelle, McKenna, James, Wu, Henry, Hashmi, S. Shahrukh, Cho, Seo-Hee, Dash, Pramod K., Gambello, Michael J.

Journal:

Neurobiology of Disease

Année:

2013

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2013

25

Lis1 and Doublecortin Function with Dynein to Mediate Coupling of the Nucleus to the Centrosome in Neuronal Migration

Teruyuki Tanaka, Finley F. Serneo, Christine Higgins, Michael J. Gambello, Anthony Wynshaw-Boris and Joseph G. Gleeson

Journal:

The Journal of Cell Biology

Année:

2004

Langue:

english

Fichier:

PDF, 4.12 MB

english, 2004

26

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina

Journal:

Genetics in Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 597 KB

english, 2014

27

Genetic Activation of mTORC1 Signaling Worsens Neurocognitive Outcome after Traumatic Brain Injury

Rozas, Natalia S., Redell, John B., Hill, Julia L., McKenna, James, Moore, Anthony N., Gambello, Michael J., Dash, Pramod K.

Journal:

Journal of Neurotrauma

Année:

2015

Langue:

english

Fichier:

PDF, 983 KB

english, 2015

28

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations

Barnes, Aileen M., Duncan, Geraldine, Weis, MaryAnn, Paton, William, Cabral, Wayne A., Mertz, Edward L., Makareeva, Elena, Gambello, Michael J., Lacbawan, Felicitas L., Leikin, Sergey, Fertala, Andrze

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.51 MB

english, 2013

29

Comparative analysis of Tsc1 and Tsc2 single and double radial glial cell mutants

Mietzsch, Ulrike, McKenna, James, Reith, R. Michelle, Way, Sharon W., Gambello, Michael J.

Journal:

The Journal of Comparative Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2013

30

Clinicopathologic characteristics of breast cancer in BRCA-carriers and non-carriers in women 35 years of age or less

Bayraktar, Soley, Amendola, Laura, Gutierrez-Barrera, Angelica M., Hashmi, Syed S., Amos, Chris, Gambello, Michael, Ready, Kaylene J., Arun, Banu

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 443 KB

english, 2014

31

Prolonging the survival of Tsc2 conditional knockout mice by glutamine supplementation

Rozas, Natalia S., Redell, John B., McKenna, James, Moore, Anthony N., Gambello, Michael J., Dash, Pramod K.

Journal:

Biochemical and Biophysical Research Communications

Année:

2015

Langue:

english

Fichier:

PDF, 873 KB

english, 2015

32

Intrahippocampal glutamine administration inhibits mTORC1 signaling and impairs long-term memory

Rozas, Natalia S., Redell, John B., Pita-Almenar, Juan D., Mckenna, James, Moore, Anthony N., Gambello, Michael J., Dash, Pramod K.

Journal:

Learning & Memory

Année:

2015

Langue:

english

Fichier:

PDF, 945 KB

english, 2015

33

Fetal trisomy 21 and the risk of preeclampsia

Defant, Jennifer, Gambello, Michael J., Monga, Manju, Langlois, Peter H., Noblin, Sarah J., Vidaeff, Alex C.

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Année:

2010

Langue:

english

Fichier:

PDF, 173 KB

english, 2010

34

Genetics in the Twenty-First Century

Gambello, Michael J., Sutton, V. Reid

Journal:

Clinics in Perinatology

Année:

2015

Langue:

english

Fichier:

PDF, 151 KB

english, 2015

35

Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update

Gambello, Michael J., Sutton, V. Reid

Journal:

Clinics in Perinatology

Année:

2015

Fichier:

PDF, 23 KB

2015

36

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

Stenger, Elizabeth O., Kazi, Zoheb, Lisi, Emily, Gambello, Michael J., Kishnani, Priya

Journal:

Molecular Genetics and Metabolism Reports

Année:

2015

Langue:

english

Fichier:

PDF, 549 KB

english, 2015

37

Trabeculae bone structure analysis in individuals affected by type 1 Gaucher disease using micro magnetic resonance imaging

Long, Valynne, Sharma, Gulshan B., Robertson, Douglas D., Xing, Minzhi, Harmouche, Elie, Podgorsky, Yegor, Laney, Dawn A., Gambello, Michael J., Lisi, Emily, Chamieh, Jad, Terk, Michael

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 47 KB

english, 2015

38

Myristoylation confers noncanonical AMPK functions in autophagy selectivity and mitochondrial surveillance

Liang, Jiyong, Xu, Zhi-Xiang, Ding, Zhiyong, Lu, Yiling, Yu, Qinghua, Werle, Kaitlin D., Zhou, Ge, Park, Yun-Yong, Peng, Guang, Gambello, Michael J., Mills, Gordon B.

Journal:

Nature Communications

Année:

2015

Langue:

english

Fichier:

PDF, 3.19 MB

english, 2015

39

Self-reported reproductive health in women with tuberous sclerosis complex

Gabitzsch, Emily K., Hashmi, Syed S., Koenig, Mary Kay, Raia, Marianna H., Whittemore, Vicky H., Northrup, Hope, Nader, Shahla, Gambello, Michael J.

Journal:

Genetics in Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 314 KB

english, 2013

40

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex

Moon, Uk Yeol, Park, Jun Young, Park, Raehee, Cho, Jennifer Y., Hughes, Lucinda J., McKenna, James, Goetzl, Laura, Cho, Seo-Hee, Crino, Peter B., Gambello, Michael J., Kim, Seonhee

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 8.94 MB

english, 2015

41

Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe disease

Kishnani, Priya S., Day, John W., Gambello, Michael, Gibson, James B., Hillman, Richard, Kronn, David, Leslie, Nancy, Pena, Loren, Stockton, David W., Tanpaiboon, Pranoot, Wang, Raymond, Haack, Kristi

Journal:

Molecular Genetics and Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 52 KB

english, 2016

42

The complex behavioral phenotype of 15q13.3 microdeletion syndrome

Ziats, Mark N., Goin-Kochel, Robin P., Berry, Leandra N., Ali, May, Ge, Jun, Guffey, Danielle, Rosenfeld, Jill A., Bader, Patricia, Gambello, Michael J., Wolf, Varina, Penney, Lynette S., Miller, Ryan

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 989 KB

english, 2016

43

52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective study

Hahn, Sihoun, Pena, Loren, Day, John W., Gambello, Michael, Gibson, James B., Hillman, Richard, Kronn, David, Stockton, David, Leslie, Nancy, Tanpaiboon, Pranoot, Wang, Raymond, Haack, Kristina An, Sp

Journal:

Molecular Genetics and Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 54 KB

english, 2016

44

Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease

Sharma, Gulshan B., Robertson, Douglas D., Laney, Dawn A., Gambello, Michael J., Terk, Michael

Journal:

Journal of Biomechanics

Année:

2016

Langue:

english

Fichier:

PDF, 1.71 MB

english, 2016

45

Hereditary Multiple Exostosis and Pain

Darilek, Sandra, Wicklund, Catherine, Novy, Diane, Scott, Allison, Gambello, Michael, Johnston, Dennis, Hecht, Jacqueline

Journal:

Journal of Pediatric Orthopaedics

Année:

2005

Langue:

english

Fichier:

PDF, 164 KB

english, 2005

46

MPV17 -related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

El-Hattab, Ayman W., Wang, Julia, Dai, Hongzheng, Almannai, Mohammed, Staufner, Christian, Alfadhel, Majid, Gambello, Michael J., Prasun, Pankaj, Raza, Saleem, Lyons, Hernando J., Afqi, Manal, Saleh,

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2017

47

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Hahn, Si Houn, Kronn, David, Leslie, Nancy D, Pena, Loren D M, Tanpaiboon, Pranoot, Gambello, Michael J, Gibson, James B, Hillman, Richard, Stockton, David W, Day, John W, Wang, Raymond Y, An Haack, K

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 334 KB

english, 2018

48

Metabolomic studies identify changes in transmethylation and polyamine metabolism in a brain-specific mouse model of tuberous sclerosis complex

McKenna III, James, Kapfhamer, David, Kinchen, Jason M, Wasek, Brandi, Dunworth, Matthew, Murray-Stewart, Tracy, Bottiglieri, Teodoro, Casero, Robert A, Gambello, Michael J

Journal:

Human Molecular Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 2.52 MB

english, 2018

49

mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the Down-Regulation of Autophagy

Taneike, Manabu, Nishida, Kazuhiko, Omiya, Shigemiki, Zarrinpashneh, Elham, Misaka, Tomofumi, Kitazume-Taneike, Rika, Austin, Ruth, Takaoka, Minoru, Yamaguchi, Osamu, Gambello, Michael J., Shah, Ajay

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.46 MB

english, 2016

50

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B 12 Metabolism: Case Reports and Literature Review

Mullikin, Dolores, Pillai, Nishitha, Sanchez, Rossana, O'Donnell- Luria, Anne H., Kritzer, Amy, Tal, Leyat, Almannai, Mohammed, Berry, Gerard T., Gambello, Michael J., Li, Hong, Graham, Brett, Srivath

Journal:

The Journal of Pediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 828 KB

english, 2018