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1

The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature

Elaine Suk-Ying Goh, Chumei Li, Sheri Horsburgh, Yumi Kasai, Elena Kolomietz, Chantal France Morel

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 186 KB

english, 2010

2

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 601 KB

english, 2009

3

Silk microspheres for encapsulation and controlled release

Xiaoqin Wang, Esther Wenk, Akira Matsumoto, Lorenz Meinel, Chumei Li, David L. Kaplan

Journal:

Journal of Controlled Release

Year:

2007

Language:

english

File:

PDF, 1.30 MB

english, 2007

4

High performance of magnetic BiFeO3 nanoparticle-mediated photocatalytic ozonation for wastewater decontamination

Yin, Jing, Liao, Gaozu, Zhou, Jialu, Huang, Chumei, Ling, Yu, Lu, Ping, Li, Laisheng

Journal:

Separation and Purification Technology

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

5

Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing

Li, Chumei, Wang, Yongdong, Szybowska, Marta

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 337 KB

english, 2017

6

Myelin-associated glycoprotein inhibits neurite/axon growth and causes growth cone collapse

Maria Li, Annemarie Shibata, Chumei Li, Peter E. Braun, Lisa McKerracher, John Roder, Stanley B. Kater, Samuel David

Journal:

Journal of Neuroscience Research

Year:

1996

Language:

english

File:

PDF, 1.18 MB

english, 1996

7

Sodium channel distribution in axons of hypomyelinated and MAG null mutant mice

Ian Vabnick, Albee Messing, S.Y. Chiu, S. Rock Levinson, Melitta Schachner, John Roder, Chumei Li, Sanja Novakovic, Peter Shrager

Journal:

Journal of Neuroscience Research

Year:

1997

Language:

english

File:

PDF, 1.68 MB

english, 1997

8

Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases

Chumei Li, Sandra L Marles, Cheryl R. Greenberg, Bernard N. Chodirker, Jiddeke van de Kamp, Anne Slavotinek, Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 199 KB

english, 2007

9

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

10

Response to restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

11

A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21)

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 113 KB

english, 2010

12

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features

Chumei Li, Marta Szybowska

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 109 KB

english, 2010

13

WRNmutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

Katrin Friedrich, Lin Lee, Dru F. Leistritz, Gudrun Nürnberg, Bidisha Saha, Fuki M. Hisama, Daniel K. Eyman, Davor Lessel, Peter Nürnberg, Chumei Li, María J. Garcia-F-Villalta, Carolien M. Kets, Joer

Journal:

Year:

2010

Language:

english

File:

PDF, 466 KB

english, 2010

14

Myelination in the absence of myelin-associated glycoprotein

Li, Chumei, Tropak, Michael B., Gerlai, Robert, Clapoff, Susan, Abramow-Newerly, Wanda, Trapp, Bruce, Peterson, Alan, Roder, John

Journal:

Year:

1994

File:

PDF, 700 KB

1994

15

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropou

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 681 KB

english, 2014

16

Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death

Li, Chumei, Mahajan, Vikas, Wang, Jia-Chi, Paes, Bosco

Journal:

Pediatrics & Neonatology

Year:

2013

Language:

english

File:

PDF, 572 KB

english, 2013

17

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

Abdelgadir, Dalal, Nowaczyk, Malgorzata J.M., Li, Chumei

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

18

Correspondence

Chung, Brian Hon-Yin, Fernandez, Bridget, Li, Chumei, Chitayat, David

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 141 KB

english, 2012

19

A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria

Li, Chumei, Di Pierro, Elena, Brancaleoni, Valentina, Cappellini, Maria Domenica, Steensma, David P.

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2009

Language:

english

File:

PDF, 100 KB

english, 2009

20

Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome

Li, Chumei C., McDonald, Sarah D.

Journal:

Fetal Diagnosis and Therapy

Year:

2009

Language:

english

File:

PDF, 417 KB

english, 2009

21

Severe intellectual disability and autistic features associated with microduplication 2q23.1

Chung, Brian HY, Mullegama, Sureni, Marshall, Christian R, Lionel, Anath C, Weksberg, Rosanna, Dupuis, Lucie, Brick, Lauren, Li, Chumei, Scherer, Stephen W, Aradhya, Swaroop, Stavropoulos, D James, El

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 405 KB

english, 2012

22

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bik

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 738 KB

english, 2016

23

Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell???Silver syndrome?

Li, Chumei C., Chodirker, Bernard N., Dawson, Angelika J., Chudley, Albert E.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 143 KB

english, 2004

24

Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?

Gillis, Jane, Blaser, Susan, Miller, Stephen, Li, Chumei

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 296 KB

english, 2009

25

Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome – the del17q12 syndrome

Szybowska, Marta, Li, Chumei

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 90 KB

english, 2009

26

A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 147 KB

english, 2009

27

Myelin from MAG- deficient mice is a strong inhibitor of neurite outgrowth

Ng, Wai Pui, Cartel, Nicholas, Li, Chumei, Roder, John, Lozano, Andres

Journal:

Year:

1996

File:

PDF, 304 KB

1996

28

Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene

Li, Chumei, Mernagh, John, Bourgeois, Jacqueline

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 204 KB

english, 2009

29

Utility of Genomic Methylation Microarrays to Measure Spreading of X-Inactivation in Association with X;Autosome Translocations

McCready, Elizabeth, Grafodatskaya, Daria, Schenkel, Laila, Dell, Edith, Li, Chumei, Nowaczyk, Malgoratza, Pare, Guillame, Sadikovic, Bekim

Journal:

Cancer Genetics

Year:

2016

Language:

english

File:

PDF, 53 KB

english, 2016

30

Ultrasound assisted, thermally activated persulfate oxidation of coal tar DNAPLs

Peng, Libin, Wang, Li, Hu, Xingting, Wu, Peihui, Wang, Xueqing, Huang, Chumei, Wang, Xiangyang, Deng, Dayi

Journal:

Journal of Hazardous Materials

Year:

2016

Language:

english

File:

PDF, 2.05 MB

english, 2016

31

Normal IQ is possible in Smith-Lemli-Opitz syndrome

Eroglu, Yasemen, Nguyen-Driver, Mina, Steiner, Robert D., Merkens, Louise, Merkens, Mark, Roullet, Jean-Baptiste, Elias, Ellen, Sarphare, Geeta, Porter, Forbes D., Li, Chumei, Tierney, Elaine, Nowaczy

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 132 KB

english, 2017

32

Co-delivery of microRNA-21 antisense oligonucleotides and gemcitabine using nanomedicine for pancreatic cancer therapy

Li, Yaqing, Chen, Yinting, Li, Jiajia, Zhang, Zuoquan, Huang, Chumei, Lian, Guoda, Yang, Kege, Chen, Shaojie, Lin, Ying, Wang, Lingyun, Huang, Kaihong, Zeng, Linjuan

Journal:

Year:

2017

Language:

english

File:

PDF, 2.76 MB

english, 2017

33

Clinical genetics provider real-time workflow study

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 92 KB

english, 2008

34

Evaluation of serum CCL18 as a potential biomarker for ovarian cancer

Yuan, Linjing, Wan, Jianxin, Huang, Chumei, Liang, Jingjing, Liu, Min, Yue, Caifeng, Li, Laisheng

Journal:

Cancer Biomarkers

Year:

2017

Language:

english

File:

PDF, 1.87 MB

english, 2017

35

KRAS promotes tumor metastasis and chemoresistance by repressing RKIP via the MAPK-ERK pathway in pancreatic cancer

Yang, Kege, Li, Yaqing, Lian, Guoda, Lin, Haoming, Shang, Changzhen, Zeng, Linjuan, Chen, Shaojie, Li, Jiajia, Huang, Chumei, Huang, Kaihong, Chen, Yinting

Journal:

International Journal of Cancer

Year:

2018

Language:

english

File:

PDF, 1.86 MB

english, 2018

36

Natural history and genotype-phenotype correlations in 72 individuals with SATB2 -associated syndrome

Zarate, Yuri A., Smith-Hicks, Constance L., Greene, Carol, Abbott, Mary-Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katheri

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.98 MB

english, 2018

37

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie Dahl, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma L, McInerney-Leo, Aideen M, Wheeler, Patricia G, Roschger, P

Journal:

Journal of Bone and Mineral Research

Year:

2018

Language:

english

File:

PDF, 1.52 MB

english, 2018

38

Cover Image, Volume 176A, Number 4, April 2018

Zarate, Yuri A., Smith-Hicks, Constance L., Greene, Carol, Abbott, Mary-Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katheri

Journal:

American Journal of Medical Genetics Part A

Year:

2018

File:

PDF, 760 KB

2018

39

MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations

Lowther, Chelsea, Speevak, Marsha, Armour, Christine, Goh, Elaine, Graham, Gail, Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata JM, Schultz, Lee-Anne, Morra, Antonella, Nicolson, Robert, Rajguru, Ma

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 59 KB

english, 2015

40

MG-121 Complexity of phenotypes of females with unbalanced x-autosomal translocations exemplified by a case with 46, x,der (x)t (x;16)(p11.2;p13.2) karyotype

Grafodatskaya, Daria, Dell, Edith, Li, Chumei, McCready, Elizabeth

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 59 KB

english, 2015

41

Serum human epididymis secretory protein 4 as a potential biomarker of renal fibrosis in kidney transplantation recipients

Luo, Jinmei, Wang, Fen, Wan, Jianxin, Ye, Zhuangjian, Huang, Chumei, Cai, Yuesu, Liu, Min, Wu, Ben-Quan, Li, Laisheng

Journal:

Clinica Chimica Acta

Year:

2018

Language:

english

File:

PDF, 979 KB

english, 2018

42

MMP1/PAR1/SP/NK1R paracrine loop modulates early perineural invasion of pancreatic cancer cells

Huang, Chumei, Li, Yaqing, Guo, Yubo, Zhang, Zuoquan, Lian, Guoda, Chen, Yinting, Li, Jian, Su, Yonghui, Li, Jiajia, Yang, Kege, Chen, Shaojie, Su, Hong, Huang, Kaihong, Zeng, Linjuan

Journal:

Year:

2018

Language:

english

File:

PDF, 3.39 MB

english, 2018

43

A Nomogram based on Inflammatory Factors C-Reactive Protein and Fibrinogen to Predict the Prognostic Value in Patients with Resected Non-Small Cell Lung Cancer

Zeng, Qiuyao, Xue, Ning, Dai, Danian, Xing, Shan, He, Xia, Li, Shibing, Du, Yi, Huang, Chumei, Li, Linfang, Liu, Wanli

Journal:

Journal of Cancer

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

44

Myelin-Associated Glycoprotein Is a Myelin Signal that Modulates the Caliber of Myelinated Axons

Yin, Xinghua, Crawford, Thomas O., Griffin, John W., Tu, Pang-hsien, Lee, Virginia M.-Y., Li, Chumei, Roder, John, Trapp, Bruce D.

Journal:

Journal of Neuroscience

Year:

1998

Language:

english

File:

PDF, 828 KB

english, 1998

45

Secreted Frizzled-Related Protein 2 Is Associated with Disease Progression and Poor Prognosis in Breast Cancer

Huang, Chumei, Ye, Zhuangjian, Wan, Jianxin, Liang, Jianbo, Liu, Min, Xu, Xiangdong, Li, Laisheng

Journal:

Disease Markers

Year:

2019

Language:

english

File:

PDF, 1.69 MB

english, 2019

46

HPLC fingerprinting and pattern recognition of Brazilian green propolis and Chinese propolis

Zhang, Chumei, Liu, Meijuan, Liang, Zeyu, Yin, Guanglign, Li, Kunping

Journal:

IOP Conference Series: Earth and Environmental Science

Year:

2019

Language:

english

File:

PDF, 548 KB

english, 2019

47

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jaureg

Journal:

Year:

2019

File:

PDF, 1.82 MB

2019

48

Comparison of âLumipulse antiâ Treponema pallidum â and âArchitect Syphilis TPâ and further examination

Liang, Jianbo, Wan, Jianxin, Huang, Chumei, Cai, Gaorong, Li, Laisheng, Liu, Min

Journal:

Journal of Clinical Laboratory Analysis

Year:

2020

File:

PDF, 659 KB

2020

49

Anti-inflammatory effect and chemical constituents of Microcos paniculata total flavone glycosides fraction

Yuan, Min, Zhang, Chumei, He, Zhuoru, Liu, Changle, Li, Kunping

Journal:

IOP Conference Series: Earth and Environmental Science

Year:

2019

File:

PDF, 356 KB

2019

50

Experimental research on the dynamic control scheme of a heating system based on integrated meteorological parameters

Yuan, Shanshan, Xu, Wei, Chen, Yuehao, Li, Mingcai, Sun, Meiling, Hu, Chumei

Journal:

Energy Exploration & Exploitation

Year:

2019

Language:

english

File:

PDF, 869 KB

english, 2019