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1

Pheochromocytoma and Paraganglioma

Longo, Dan L., Neumann, Hartmut P.H., Young, William F., Eng, Charis

Journal:

New England Journal of Medicine

Year:

2019

Language:

english

File:

PDF, 697 KB

english, 2019

2

Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder

Frazier, Thomas W., Youngstrom, Eric A., Speer, Leslie, Embacher, Rebecca, Law, Paul, Constantino, John, Findling, Robert L., Hardan, Antonio Y., Eng, Charis

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2012

Language:

english

File:

PDF, 1.11 MB

english, 2012

3

Development and Validation of Objective and Quantitative Eye Tracking-Based Measures of Autism Risk and Symptom Levels

Frazier, Thomas W., Klingemier, Eric W., Parikh, Sumit, Speer, Leslie, Strauss, Mark S., Eng, Charis, Hardan, Antonio Y., Youngstrom, Eric A.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2018

Language:

english

File:

PDF, 878 KB

english, 2018

4

Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center

Moline, Jessica, Mahdi, Haider, Yang, Bin, Biscotti, Charles, Roma, Andres A., Heald, Brandie, Rose, Peter G., Michener, Chad, Eng, Charis

Journal:

Gynecologic Oncology

Year:

2013

Language:

english

File:

PDF, 322 KB

english, 2013

5

Multiple endocrine neoplasia type 2: An overview

Moline, Jessica, Eng, Charis

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 317 KB

english, 2011

6

Hormone replacement therapy after menopause and risk of breast cancer inBRCA1mutation carriers: a case–control study

Kotsopoulos, Joanne, Huzarski, Tomasz, Gronwald, Jacek, Moller, Pal, Lynch, Henry T., Neuhausen, Susan L., Senter, Leigha, Demsky, Rochelle, Foulkes, William D., Eng, Charis, Karlan, Beth, Tung, Nadin

Journal:

Breast Cancer Research and Treatment

Year:

2016

Language:

english

File:

PDF, 385 KB

english, 2016

7

The Clinical Spectrum of PTEN Mutations

Yehia, Lamis, Keel, Emma, Eng, Charis

Journal:

Annual Review of Medicine

Year:

2020

Language:

english

File:

PDF, 242 KB

english, 2020

8

New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis

Hou, Yuan, Zhao, Junfei, Martin, William, Kallianpur, Asha, Chung, Mina K., Jehi, Lara, Sharifi, Nima, Erzurum, Serpil, Eng, Charis, Cheng, Feixiong

Journal:

Year:

2020

File:

PDF, 3.05 MB

2020

9

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease

Charis Eng, Lois M. Mulligan

Journal:

Year:

1997

Language:

english

File:

PDF, 225 KB

english, 1997

10

BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

Christina M. Rigelsky, Constance Jennings, Rainer Lehtonen, Omar A. Minai, Charis Eng, Micheala A. Aldred

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 140 KB

english, 2008

11

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

Mulligan, Lois M., Eng, Charis, Healey, Catherine S., Clayton, David, Kwok, John B.J., Gardner, Emily, Ponder, Margaret A., Frilling, Andrea, Jackson, Charles E., Lehnert, Hendrik

Journal:

Nature Genetics

Year:

1994

File:

PDF, 582 KB

1994

12

From developmental disorder to heritable cancer: it's all in the BMP/TGF-β family

Waite, Kristin A., Eng, Charis

Journal:

Nature Reviews Genetics

Year:

2003

Language:

english

File:

PDF, 324 KB

english, 2003

13

Resveratrol enhances the anti-tumor activity of the mTOR inhibitor rapamycin in multiple breast cancer cell lines mainly by suppressing rapamycin-induced AKT signaling

Xin He, Yu Wang, Jinhong Zhu, Mohammed Orloff, Charis Eng

Journal:

Year:

2011

Language:

english

File:

PDF, 854 KB

english, 2011

14

Targeted therapy for uveal melanoma

Pierre L. Triozzi, Charis Eng, Arun D. Singh

Journal:

Cancer Treatment Reviews

Year:

2008

Language:

english

File:

PDF, 243 KB

english, 2008

15

Biallelic Inactivation of Fumarate Hydratase (FH) Occurs in Nonsyndromic Uterine Leiomyomas but Is Rare in Other Tumors

Rainer Lehtonen, Maija Kiuru, Sakari Vanharanta, Jari Sjöberg, Leena-Maija Aaltonen, Kristiina Aittomäki, Johanna Arola, Ralf Butzow, Charis Eng, Kirsti Husgafvel-Pursiainen, Jorma Isola, Heikki Järvi

Journal:

The American Journal of Pathology

Year:

2004

Language:

english

File:

PDF, 205 KB

english, 2004

16

Germline SDHD mutation in familial phaeochromocytoma

Dewi Astuti, Fiona Douglas, Thomas WJ Lennard, Irene A Aligianis, Emma R Woodward, D Gareth R Evans, Charis Eng, Farida Latif, Eamonn R Maher

Journal:

Year:

2001

Language:

english

File:

PDF, 208 KB

english, 2001

17

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

Hobert, Judith A, Embacher, Rebecca, Mester, Jessica L, Frazier, Thomas W, Eng, Charis

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 204 KB

english, 2014

18

Timing of oral contraceptive use and the risk of breast cancer inBRCA1mutation carriers

Kotsopoulos, Joanne, Lubinski, Jan, Moller, Pal, Lynch, Henry T., Singer, Christian F., Eng, Charis, Neuhausen, Susan L., Karlan, Beth, Kim-Sing, Charmaine, Huzarski, Tomasz, Gronwald, Jacek, McCuaig,

Journal:

Breast Cancer Research and Treatment

Year:

2014

Language:

english

File:

PDF, 227 KB

english, 2014

19

A Twin Study of Heritable and Shared Environmental Contributions to Autism

Frazier, Thomas W., Thompson, Lee, Youngstrom, Eric A., Law, Paul, Hardan, Antonio Y., Eng, Charis, Morris, Nathan

Journal:

Journal of Autism and Developmental Disorders

Year:

2014

Language:

english

File:

PDF, 530 KB

english, 2014

20

Inflammatory disease of the aorta: Patterns and classification of giant cell aortitis, Takayasu arteritis, and nonsyndromic aortitis

Svensson, Lars G., Arafat, Amr, Roselli, Eric E., Idrees, Jahanzaib, Clifford, Allison, Tan, Carmela, Hoffman, Gary, Eng, Charis, Langford, Carol, Rodriguez, E. Rene, Gornik, Heather L., Blackstone, E

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2015

Language:

english

File:

PDF, 441 KB

english, 2015

21

Risk factors for endometrial cancer among women with aBRCA1orBRCA2mutation: a case control study

Segev, Yakir, Rosen, Barry, Lubinski, Jan, Gronwald, Jacek, Lynch, Henry T., Moller, Pal, Kim-Sing, Charmaine, Ghadirian, Parviz, Karlan, Beth, Eng, Charis, Gilchrist, Dawna, Neuhausen, Susan L., Eise

Journal:

Familial Cancer

Year:

2015

Language:

english

File:

PDF, 235 KB

english, 2015

22

Evidence of MEN-2 in the Original Description of Classic Pheochromocytoma

Neumann, Hartmut P.H., Vortmeyer, Alexander, Schmidt, Dieter, Werner, Martin, Erlic, Zoran, Cascon, Alberto, Bausch, Birke, Januszewicz, Andrzej, Eng, Charis

Journal:

Boston Medical and Surgical Journal

Year:

2007

Language:

english

File:

PDF, 213 KB

english, 2007

23

Germline RET Codon 918 Mutation in Apparently Isolated Intestinal Ganglioneuromatosis 1

Eng, Charis, Marsh, Debbie J., Robinson, Bruce G., Chow, C. W., Patton, Michael A., Southey, Melissa C., Venter, Deon J., Ponder, Bruce A. J., Milla, Peter J., Smith, Virpi V.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 529 KB

english, 1998

24

Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families

Frazier, Thomas W., Youngstrom, Eric A., Hardan, Antonio Y., Georgiades, Stelios, Constantino, John N., Eng, Charis

Journal:

Molecular Autism

Year:

2015

Language:

english

File:

PDF, 1.21 MB

english, 2015

25

Erratum to: Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits

He, Xin, Thacker, Stetson, Romigh, Todd, Yu, Qi, Frazier, Thomas W., Eng, Charis

Journal:

Molecular Autism

Year:

2016

Language:

english

File:

PDF, 343 KB

english, 2016

26

Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits

He, Xin, Thacker, Stetson, Romigh, Todd, Yu, Qi, Frazier, Thomas W., Eng, Charis

Journal:

Molecular Autism

Year:

2015

Language:

english

File:

PDF, 1.45 MB

english, 2015

27

Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

Lammert, Jacqueline, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Armel, Susan, Eisen, Andrea, Meschino, Wendy S., Lynch, Henry T., Snyder, Carrie, Eng, Charis, Olopade, Olufunmilayo I., Ginsburg

Journal:

Breast Cancer Research and Treatment

Year:

2018

Language:

english

File:

PDF, 791 KB

english, 2018

28

Dynamics and Structural Stability Effects of Germline PTEN Mutations Associated with Cancer versus Autism Phenotypes

Smith, Iris Nira, Thacker, Stetson, Jaini, Ritika, Eng, Charis

Journal:

Journal of Biomolecular Structure and Dynamics

Year:

2018

Language:

english

File:

PDF, 6.00 MB

english, 2018

29

Personal Mutanomes Meet Modern Oncology Drug Discovery and Precision Health

Cheng, Feixiong, Liang, Han, Butte, Atul J., Eng, Charis, Nussinov, Ruth, Gottesman, Michael M.

Journal:

Pharmacological Reviews

Year:

2019

Language:

english

File:

PDF, 1.77 MB

english, 2019

30

A Systems Pharmacology Approach Uncovers Wogonoside as an Angiogenesis Inhibitor of Triple-Negative Breast Cancer by Targeting Hedgehog Signaling

Huang, Yujie, Fang, Jiansong, Lu, Weiqiang, Wang, Zihao, Wang, Qi, Hou, Yuan, Jiang, Xingwu, Reizes, Ofer, Lathia, Justin, Nussinov, Ruth, Eng, Charis, Cheng, Feixiong

Journal:

Cell Chemical Biology

Year:

2019

Language:

english

File:

PDF, 7.16 MB

english, 2019

31

A genome-wide positioning systems network algorithm for in silico drug repurposing

Cheng, Feixiong, Lu, Weiqiang, Liu, Chuang, Fang, Jiansong, Hou, Yuan, Handy, Diane E., Wang, Ruisheng, Zhao, Yuzheng, Yang, Yi, Huang, Jin, Hill, David E., Vidal, Marc, Eng, Charis, Loscalzo, Joseph

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 4.22 MB

english, 2019

32

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Busch, Robyn M., Srivastava, Siddharth, Hogue, Olivia, Frazier, Thomas W., Klaas, Patricia, Hardan, Antonio, Martinez-Agosto, Julian A., Sahin, Mustafa, Eng, Charis

Journal:

Translational Psychiatry

Year:

2019

Language:

english

File:

PDF, 630 KB

english, 2019

33

WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition

Lee, Yu-Ru, Yehia, Lamis, Kishikawa, Takahiro, Ni, Ying, Leach, Brandie, Zhang, Jinfang, Panch, Nivedita, Liu, Jing, Wei, Wenyi, Eng, Charis, Pandolfi, Pier Paolo

Journal:

New England Journal of Medicine

Year:

2020

File:

PDF, 1.94 MB

2020

34

Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation

Kang, Shin Chung, Jaini, Ritika, Hitomi, Masahiro, Lee, Hyunpil, Sarn, Nick, Thacker, Stetson, Eng, Charis

Journal:

Molecular Autism

Year:

2020

File:

PDF, 6.76 MB

2020

35

Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice

Jaini, Ritika, Loya, Matthew G, King, Alexander T, Thacker, Stetson, Sarn, Nicholas B, Yu, Qi, Stark, George R, Eng, Charis

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 1.77 MB

2020

36

Alternative splicing landscape of the neural transcriptome in a cytoplasmic-predominant Pten expression murine model of autism-like Behavior

Thacker, Stetson, Sefyi, Marilyn, Eng, Charis

Journal:

Translational Psychiatry

Year:

2020

File:

PDF, 2.52 MB

2020

37

Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature

Bancos, Irina, Atkinson, Elizabeth, Eng, Charis, Young, William F, Neumann, Hartmut P H, Yukina, Marina, Cohen, Debbie L, Waguespack, Steven G, Pereira, Maria Adelaide Albergaria, He, Xin, Bandgar, Tu

Journal:

The Lancet Diabetes & Endocrinology

Year:

2020

File:

PDF, 1.09 MB

2020

38

GermlinePTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

Zori, Roberto T., Marsh, Debbie J., Graham, Gail E., Marliss, Errol B., Eng, Charis

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 178 KB

english, 1998

39

Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS)

Otto, Lisa R., Boriack, Richard L., Marsh, Debbie J., Kum, Jennifer B., Eng, Charis, Burlina, Alberto B., Bennett, Michael J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

40

No evidence for germline PTEN mutations in families with breast and brain tumours

Anthony Laugé, Céline Lefebvre, Pierre Laurent-Puig, Virginie Caux, Sophie Gad, Charis Eng, Michel Longy, Dominique Stoppa-Lyonnet

Journal:

International Journal of Cancer

Year:

1999

Language:

english

File:

PDF, 117 KB

english, 1999

41

Investigation of the genes for RET and its ligand complex, GDNF/GFRα-1, in small cell lung carcinoma

Lois M. Mulligan, Tineke Timmer, Stacey M. Ivanchuk, Barbara G. Campling, Leah C. Young, Pamela H. Rabbitts, Vasi Sundaresan, Robert M. W. Hofstra, Charis Eng

Journal:

Genes, Chromosomes and Cancer

Year:

1998

Language:

english

File:

PDF, 82 KB

english, 1998

42

Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development

Steven C. Clifford, Sally Walsh, Katie Hewson, Elaine K. Green, Astrid Brinke, Peter M. Green, Francesco Gianelli, Charis Eng, Eamonn R. Maher

Journal:

Genes, Chromosomes and Cancer

Year:

1999

Language:

english

File:

PDF, 134 KB

english, 1999

43

Fine-structure deletion mapping of 10q22–24 identifies regions of loss of heterozygosity and suggests that sporadic follicular thyroid adenomas and follicular thyroid carcinomas develop along distinct neoplastic pathways

Jen Jen Yeh, Debbie J. Marsh, Jan Zedenius, Trisha Dwight, Leigh Delbridge, Bruce G. Robinson, Charis Eng

Journal:

Genes, Chromosomes and Cancer

Year:

1999

Language:

english

File:

PDF, 208 KB

english, 1999

44

Meningeal carcinomatosis from transitional cell carcinoma of the bladder

Charis Eng, David Cunningham, Bradley J. Quade, Lee Schwamm, Philip W. Kantoff, Arthur T. Skarin

Journal:

Year:

1993

Language:

english

File:

PDF, 528 KB

english, 1993

45

Microsatellite instability and hMLH1/hMSH2 expression in Barrett esophagus-associated adenocarcinoma

Matthew H. Kulke, Kosha S. Thakore, George Thomas, Helen Wang, Massimo Loda, Charis Eng, Robert D. Odze

Journal:

Year:

2001

Language:

english

File:

PDF, 86 KB

english, 2001

46

Mutation analysis of NTRK2 and NTRK3, encoding 2 tyrosine kinase receptors, in sporadic human medullary thyroid carcinoma reveals novel sequence variants

Oliver Gimm, Heather Dziema, Jessica Brown, Aranzazu De La Puente, Cuong Hoang-Vu, Henning Dralle, Christoph Plass, Charis Eng

Journal:

International Journal of Cancer

Year:

2001

Language:

english

File:

PDF, 77 KB

english, 2001

47

Biallelic inactivating mutations and an occult germline mutation of PTEN in primary cervical carcinomas

Keisuke Kurose, Xiao-Ping Zhou, Tsutomu Araki, Charis Eng

Journal:

Genes, Chromosomes and Cancer

Year:

2000

Language:

english

File:

PDF, 135 KB

english, 2000

48

New syndrome: Familial proportionate short stature, intrauterine growth retardation, and recurrent locking of the fingers

Charis E. L. Eng, Charles M. Strom, F. Clarke Fraser, Marilyn Preus

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 344 KB

english, 1987

49

Constipation, polyps, or cancer? let PTEN predict your future

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

50

Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney

Cagatay Oktenli, Davut Gul, M. Salih Deveci, Mutlu Saglam, Meena Upadhyaya, Peter Thompson, Claudia Consoli, Ismail H. Kocar, Robert Pilarski, Xiao-Ping Zhou, Charis Eng

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 184 KB

english, 2004

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