Magoulas, Pilar L.: search on Z-Library

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1

Chromosome 15q24 microdeletion syndrome

Pilar L Magoulas, Ayman W El-Hattab

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 301 KB

english, 2012

2

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review

Pilar L. Magoulas, Ayman W. El-Hattab, Angshumoy Roy, Deeksha S. Bali, Milton J. Finegold, William J. Craigen

Journal:

Human Pathology

Year:

2012

Language:

english

File:

PDF, 1.92 MB

english, 2012

3

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

Pilar L Magoulas, Ayman W El-Hattab

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 180 KB

english, 2012

4

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 389 KB

english, 2014

5

Clinical and molecular characterization of de novo loss of function variants in HNRNPU

Leduc, Magalie S., Chao, Hsiao-Tuan, Qu, Chunjing, Walkiewicz, Magdalena, Xiao, Rui, Magoulas, Pilar, Pan, Shujuan, Beuten, Joke, He, Weimin, Bernstein, Jonathan A., Schaaf, Christian P., Scaglia, Fer

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 689 KB

english, 2017

6

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Arjunan, Aishwarya, Bellerose, Holly, Torres, Raul, BenâShachar, Rotem, Hoffman, Jodi D., Angle, Brad, Slotnick, Robert Nathan, Simpson, Brittany N., Lewis, Andrea M., Magoulas, Pilar L., Bontempo,

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 5.42 MB

2020

7

Reanalysis of Clinical Exome Sequencing Data

Liu, Pengfei, Meng, Linyan, Normand, Elizabeth A., Xia, Fan, Song, Xiaofei, Ghazi, Andrew, Rosenfeld, Jill, Magoulas, Pilar L., Braxton, Alicia, Ward, Patricia, Dai, Hongzheng, Yuan, Bo, Bi, Weimin, X

Journal:

New England Journal of Medicine

Year:

2019

Language:

english

File:

PDF, 148 KB

english, 2019

8

Genetic counselors on the frontline of precision health

Bamshad, Michael J., Magoulas, Pilar L., Dent, Karin M.

Journal:

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

Year:

2018

Language:

english

File:

PDF, 387 KB

english, 2018

9

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

Rossetti, Linda Z., Glinton, Kevin, Yuan, Bo, Liu, Pengfei, Pillai, Nishitha, Mizerik, Elizabeth, Magoulas, Pilar, Rosenfeld, Jill A., Karaviti, Lefkothea, Sutton, Vernon R., Lalani, Seema R., Scott,

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.32 MB

english, 2019

10

Digital necrosis in an infant with severe spinal muscular atrophy

Carrasco, Diana, Magoulas, Pilar, Scull, Jennifer C., Jarrell, Jill A., Lalani, Seema R., Wangler, Michael F.

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 198 KB

2019

11

Evaluation of candidate reference genes for QPCR during ontogenesis and of immune-relevant tissues of European seabass (Dicentrarchus labrax)

Karin Mitter, Georgios Kotoulas, Antonios Magoulas, Victor Mulero, Pilar Sepulcre, Antonio Figueras, Beatrice Novoa, Elena Sarropoulou

Journal:

Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology

Year:

2009

Language:

english

File:

PDF, 647 KB

english, 2009

12

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)

Luis A. Umaña, Pilar Magoulas, Weimin Bi, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 864 KB

english, 2011

13

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beat

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.97 MB

english, 2017

14

Profiling of infection specific mRNA transcripts of the European seabassDicentrarchus labrax

Elena Sarropoulou, Pilar Sepulcre, Laura Poisa-Beiro, Victoriano Mulero, José Meseguer, Antonio Figueras, Beatriz Novoa, Vasso Terzoglou, Richard Reinhardt, Antonios Magoulas, Georgios Kotoulas

Journal:

Year:

2009

Language:

english

File:

PDF, 711 KB

english, 2009

15

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN

Magoulas, Pilar L., Shchelochkov, Oleg A., Bainbridge, Matthew N., Ben-Shachar, Shay, Yatsenko, Svetlana, Potocki, Lorraine, Lewis, Richard Alan, Searby, Charles, Marcogliese, Andrea N., Elghetany, M.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

16

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

Darilek, Sandra, Ward, Patricia, Pursley, Amber, Plunkett, Katie, Furman, Patti, Magoulas, Pilar, Patel, Ankita, Cheung, Sau Wai, Eng, Christine M

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 190 KB

english, 2008

17

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Lin, Angela E, Basson, Craig T, Goldmuntz, Elizabeth, Magoulas, Pilar L, McDermott, Deborah A, McDonald-McGinn, Donna M, McPherson, Elspeth, Morris, Colleen A, Noonan, Jacqueline, Nowak, Catherine, Pi

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 1.10 MB

english, 2008

18

Use of Exome Sequencing for Infants in Intensive Care Units

Meng, Linyan, Pammi, Mohan, Saronwala, Anirudh, Magoulas, Pilar, Ghazi, Andrew Ray, Vetrini, Francesco, Zhang, Jing, He, Weimin, Dharmadhikari, Avinash V., Qu, Chunjing, Ward, Patricia, Braxton, Alici

Journal:

JAMA Pediatrics

Year:

2017

Language:

english

File:

PDF, 289 KB

english, 2017

19

Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome

Magoulas, Pilar L., Liu, Pengfei, Gelowani, Violet, Soler-Alfonso, Claudia, Kivuva, Emma C., Lupski, James R., Potocki, Lorraine

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 3.49 MB

english, 2014

20

Craniofacial Manifestations in Severe Nemaline Myopathy

Xue, Yunfeng, Magoulas, Pilar L., Wirthlin, John O., Buchanan, Edward P.

Journal:

Journal of Craniofacial Surgery

Year:

2017

Language:

english

File:

PDF, 192 KB

english, 2017

21

Corrigendum to “Evaluation of candidate reference genes for QPCR during ontogenesis and of immune-relevant tissues of European seabass (Dicentrarchus labrax)” [Comp. Biochem. Physiol. 153B (2009) 340–347]

Karin Mitter, Georgios Kotoulas, Antonios Magoulas, Victor Mulero, Pilar Sepulcre, Antonio Figueras, Beatrice Novoa, Elena Sarropoulou

Journal:

Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

22

Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations

Pappan, Kirk L., Kennedy, Adam D., Magoulas, Pilar, Hanchard, Neil A., Sun, Qin, Elsea, Sarah H.

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 626 KB

english, 2017

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