Vengoechea, Jaime: search on Z-Library

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1

Methylation markers of malignant potential in meningiomas

Vengoechea, Jaime, Sloan, Andrew E., Chen, Yanwen, Guan, Xiaowei, Ostrom, Quinn T., Kerstetter, Amber, Capella, Devan, Cohen, Mark L., Wolinsky, Yingli, Devine, Karen, Selman, Warren, Barnett, Gene H.

Journal:

Journal of Neurosurgery

Year:

2013

Language:

english

File:

PDF, 4.16 MB

english, 2013

2

Germline mosaicism in Cornelia de Lange syndrome

Thomas P. Slavin, Noam Lazebnik, Dinah M. Clark, Jaime Vengoechea, Leslie Cohen, Maninder Kaur, Laura Konczal, Carol A. Crowe, Jane E. Corteville, Malgorzata J. Nowaczyk, Janice L. Byrne, Laird G. Jac

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 151 KB

english, 2012

3

Duplication of theALDH1A2gene in association with pentalogy of Cantrell: a case report

Steiner, Matthew B, Vengoechea, Jaime, Collins, Ronnie Thomas

Journal:

Journal of Medical Case Reports

Year:

2013

Language:

english

File:

PDF, 513 KB

english, 2013

4

Association of metabolic syndrome with glioblastoma: a retrospective cohort study and review

Rogers, Lisa R, Ostrom, Quinn T, Schroer, Julia, Vengoechea, Jaime, Li, Li, Gerson, Stanton, Nock, Charles J, Machtay, Mitchell, Selman, Warren, Lo, Simon, Sloan, Andrew E, Barnholtz-Sloan, Jill S

Journal:

Neuro-Oncology Practice

Year:

2020

File:

PDF, 596 KB

2020

5

Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia

Vengoechea, Jaime, Carpenter, Lori

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 243 KB

english, 2015

6

Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1 -related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome

Lusk, Laina, Black, Emily, Vengoechea, Jaime

Journal:

Journal of Medical Genetics

Year:

2019

File:

PDF, 262 KB

2019

7

Combined occurrence of deleterious TOR1A and ANO3 variants in isolated generalized dystonia

Miocinovic, Svjetlana, Vengoechea, Jaime, LeDoux, Mark S., Isbaine, Faical, Jinnah, H.A.

Journal:

Parkinsonism & Related Disorders

Year:

2020

File:

PDF, 505 KB

2020

8

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2

Vengoechea, Jaime, David, Marjorie P., Yaghi, Shadi R., Carpenter, Lori, Rudnicki, Stacy A.

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2013

Language:

english

File:

PDF, 93 KB

english, 2013

9

In reply to “Mast Cell Disorders in Ehlers-Danlos Syndrome”

Vengoechea, Jaime

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 106 KB

english, 2017

10

A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges

Vengoechea, Jaime, Tallo, Christine

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 602 KB

english, 2017

11

Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B

Vengoechea, Jaime, Carpenter, Lori, Zárate, Yuri A.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 169 KB

english, 2014

12

A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism

Gupta, Harsh V., Vengoechea, Jaime, Sahaya, Kinshuk, Virmani, Tuhin

Journal:

Parkinsonism & Related Disorders

Year:

2015

Language:

english

File:

PDF, 476 KB

english, 2015

13

A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant

Vengoechea, Jaime, DiMonda, Janette

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 344 KB

2020

14

MISCONDUCT IN MEDICAL STUDENTS

JAIME VENGOECHEA, SOCORRO MORENO, ALVARO RUIZ

Journal:

Developing World Bioethics

Year:

2008

Language:

english

File:

PDF, 93 KB

english, 2008

15

Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant

Zarate, Yuri A., Bosanko, Katherine A., Jarasvaraparn, Chaowapong, Vengoechea, Jaime, McDonough, Elizabeth M.

Journal:

Case Reports in Pediatrics

Year:

2014

Language:

english

File:

PDF, 1.30 MB

english, 2014

16

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency

Saettini, Francesco, Poli, Cecilia, Vengoechea, Jaime, Bonanomi, Sonia, Orellana, Julio C, Fazio, Grazia, Rodriguez, Fred H, Noguera, Loreani P, Booth, Claire A, Jarur-Chamy, Valentina, Shams, Marissa

Journal:

Year:

2020

File:

PDF, 2.23 MB

2020

17

De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity

Vengoechea, Jaime, Parikh, Aditi S, Zhang, Shulin, Tassone, Flora

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 238 KB

english, 2012

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