Nirmala D. Sirisena: search on Z-Library

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1

Genomic Medicine in Emerging Economies || Taking Genomics From the Bench to the Bedside in Developing Countries

Sirisena, Nirmala D.

Year:

2018

Language:

english

File:

PDF, 1.39 MB

english, 2018

2

Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women

Vajira H. W. Dissanayake, Nirmala D. Sirisena, Lakshini Y. Weerasekera, Chumithri G. Gammulla, Harshalal R. Seneviratne, Rohan W. Jayasekara

Journal:

Journal of Obstetrics and Gynaecology Research

Year:

2012

Language:

english

File:

PDF, 126 KB

english, 2012

3

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea

Samarakoon, Lasitha, Sirisena, Nirmala D., Wettasinghe, Kalum T., Kariyawasam, Kariyawasam Warnakulathanthrige Jay, Jayasekara, Rohan W., Dissanayake, Vajira H. W.

Journal:

Journal of Obstetrics and Gynaecology Research

Year:

2013

Language:

english

File:

PDF, 380 KB

english, 2013

4

A Child with a Novel de novo Mutation in the Aristaless Domain of the Aristaless-Related Homeobox (ARX) Gene Presenting with Ambiguous Genitalia and Psychomotor Delay

Sirisena, Nirmala Dushyanthi, McElreavey, Kenneth, Bashamboo, Anu, de Silva, K. Shamya H., Jayasekara, Rohan W., Dissanayake, Vajira H.W.

Journal:

Sexual Development

Year:

2014

Language:

english

File:

PDF, 241 KB

english, 2014

5

Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

Thillainathan, Sharmila, Sirisena, Nirmala D., Kariyawasam, Kariyawasam W. J. C., Jayasekara, Rohan W., Dissanayake, Vajira H. W.

Journal:

World Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 565 KB

english, 2015

6

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

Sirisena, Nirmala D., Wijetunge, U. Kalpani S., de Silva, Ramya, Dissanayake, Vajira H. W.

Journal:

Case Reports in Genetics

Year:

2013

Language:

english

File:

PDF, 542 KB

english, 2013

7

Implementation of genomic medicine in Sri Lanka: Initial experience and challenges

Sirisena, Nirmala D., Neththikumara, Nilaksha, Wetthasinghe, Kalum, Dissanayake, Vajira H.W.

Journal:

Applied & Translational Genomics

Year:

2016

Language:

english

File:

PDF, 239 KB

english, 2016

8

Establishing a relationship between clinical features and one specific type of chromosome abnormality

Yang, Xiu-Juan, Sirisena, Nirmala, Dissanayake, Vajira H.W.

Journal:

World Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 531 KB

english, 2016

9

Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome

Sirisena, Nirmala D, Thalgahagoda, Shenal, Abeyagunawardena, Asiri, Neumann, Manuela, Schmudlach, Hans-Otto, Jayasekara, Rohan W, Dissanayake, Vajira HW

Journal:

Year:

2015

Language:

english

File:

PDF, 86 KB

english, 2015

10

Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1

Sirisena, Nirmala D, Tantrigoda, Nethra Hidellage, Kariyawasam, Kariyawasam Jayani C, Jayasekara, Rohan W, Dissanayake, Vajira HW

Journal:

Year:

2016

Language:

english

File:

PDF, 169 KB

english, 2016

11

Correspondence

Sirisena, Nirmala, Dissanayake, Vajira H.W.

Journal:

World Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 172 KB

english, 2016

12

Genetic determinants of sporadic breast cancer in Sri Lankan women

Sirisena, Nirmala Dushyanthi, Adeyemo, Adebowale, Kuruppu, Anchala I., Neththikumara, Nilaksha, Samaranayake, Nilakshi, Dissanayake, Vajira H. W.

Journal:

Year:

2018

Language:

english

File:

PDF, 432 KB

english, 2018

13

The pattern of KRAS mutations in metastatic colorectal cancer: a retrospective audit from Sri Lanka

Sirisena, Nirmala Dushyanthi, Deen, Kemal, Mandawala, Dayupathi Eranda Nipunika, Herath, Pumindu, Dissanayake, Vajira Harshadeva Weerabaddana

Journal:

BMC Research Notes

Year:

2017

Language:

english

File:

PDF, 972 KB

english, 2017

14

The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report

Ranawaka, Randula, Sirisena, Nirmala Dushyanthi, Dayasiri, Kavinda Chandimal, Cogal, Andrea G., Lieske, John C., Gamage, Manoji Prabashini, Dissanayake, Vajira H. W.

Journal:

BMC Research Notes

Year:

2017

Language:

english

File:

PDF, 720 KB

english, 2017

15

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

Ratnasamy, Vithiya, Navaneethakrishnan, Suganthan, Sirisena, Nirmala Dushyanthi, Grüning, Nana-Maria, Brandau, Oliver, Thirunavukarasu, Kumanan, Dagnall, Casey L., McReynolds, Lisa J., Savage, Sharon

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 890 KB

english, 2018

16

Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women

Sirisena, Nirmala Dushyanthi, Adeyemo, Adebowale, Kuruppu, Anchala Ishani, Samaranayake, Nilakshi, Dissanayake, Vajira Harshadeva Weerabaddana

Journal:

Journal of Breast Cancer

Year:

2018

Language:

english

File:

PDF, 264 KB

english, 2018

17

A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development

Wettasinghe, Kalum T., Sirisena, Nirmala D., Andraweera, Prabha H., Jayasekara, Rohan W., Dissanayake, Vajira H. W.

Journal:

Clinical Pediatric Endocrinology

Year:

2012

Language:

english

File:

PDF, 195 KB

english, 2012

18

Relative normalized luciferase activity for the recombinant vector constructs carrying the ancestral and variant alleles for XRCC2:rs3218550 and PHB:rs6917

Sirisena, Nirmala Dushyanthi, Samaranayake, Nilakshi, Dissanayake, Vajira H. W.

Journal:

BMC Research Notes

Year:

2018

Language:

english

File:

PDF, 853 KB

english, 2018

19

Genetics and genomic medicine in Sri Lanka

Sirisena, Nirmala D., Dissanayake, Vajira H. W.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 744 KB

english, 2019

20

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

Paththinige, Chamara Sampath, Sirisena, Nirmala Dushyanthi, Escande, Fabienne, Manouvrier, Sylvie, Petit, Florence, Dissanayake, Vajira Harshadeva Weerabaddana

Journal:

BMC Medical Genetics

Year:

2019

Language:

english

File:

PDF, 7.11 MB

english, 2019

21

Electrophoretic mobility shift assays implicate XRCC2:rs3218550C>T as a potential low-penetrant susceptibility allele for sporadic breast cancer

Sirisena, Nirmala D., Samaranayake, Nilakshi, Dissanayake, Vajira H. W.

Journal:

BMC Research Notes

Year:

2019

Language:

english

File:

PDF, 1.10 MB

english, 2019

22

Strategies for Genomic Medicine Education in Low- and Middle-Income Countries

Sirisena, Nirmala D., Dissanayake, Vajira H. W.

Journal:

Frontiers in Genetics

Year:

2019

Language:

english

File:

PDF, 604 KB

english, 2019

23

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature

Joseph, Anne D. D., Sirisena, Nirmala D., Kumanan, Thirunavukarasu, Sujanitha, Vathualan, Strelow, Veronika, Yamamoto, Raina, Wieczorek, Stefan, Dissanayake, Vajira H. W.

Journal:

BMC Endocrine Disorders

Year:

2019

File:

PDF, 1.31 MB

2019

24

Strategies for Genomic Medicine Education in Low- and Middle-Income Countries

Sirisena, Nirmala D., Dissanayake, Vajira H. W.

Journal:

Frontiers in Genetics

Year:

2019

File:

PDF, 604 KB

2019

25

Turner syndrome in diverse populations

Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 12.13 MB

english, 2019

26

Turner syndrome in diverse populations

Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 12.13 MB

2019

27

Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay

Sirisena, Nirmala, Biswas, Kajal, Sullivan, Teresa, Stauffer, Stacey, Cleveland, Linda, Southon, Eileen, Dissanayake, Vajira H. W., Sharan, Shyam K.

Journal:

Breast Cancer Research

Year:

2020

File:

PDF, 722 KB

2020