Lista de obras - Nirmala D Sirisena - Dominio Público Uruguay

22q11.2 deletion syndrome in diverse populations.

artículo científico publicado en 2017

A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene

artículo científico publicado en 2017

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.

artículo científico publicado en 2014

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.

artículo científico publicado en 2018

Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

artículo científico publicado en 2015

Authors reply re: HLA-B27 allele frequency in Sri Lankan patients with spondyloarthritides

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Carriage rate of hepatitis-B surface antigen (HBsAg) in an urban community in Jos, Plateau State, Nigeria.

artículo científico publicado en 2002

Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.

artículo científico publicado en 2013

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Correspondence

artículo científico publicado en 2016

Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

artículo científico publicado en 2014

Down syndrome in diverse populations.

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Focusing attention on ancestral diversity within genomics research: a potential means for promoting equity in the provision of genomics based healthcare services in developing countries

artículo científico publicado en 2017

Frontometaphyseal dysplasia 1 in a patient from Sri Lanka

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

artículo científico publicado en 2017

Genetic determinants of sporadic breast cancer in Sri Lankan women

artículo científico publicado en 2018

Genetics and genomic medicine in Sri Lanka.

artículo científico publicado en 2019

Genotype data for single nucleotide polymorphism markers in sporadic breast cancer related genes in a Sri Lankan case-control cohort of postmenopausal women

scientific article published on 19 July 2019

HLA-B27 allele frequency in Sri Lankan patients with spondyloarthritides.

artículo científico publicado en 2016

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

scientific article published on 28 October 2019

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

artículo científico publicado en 2016

Noonan syndrome in diverse populations.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report

artículo científico publicado en 2017

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

artículo científico publicado en 2018

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea

scientific article published on 21 December 2012

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

scientific article published on 04 September 2018

Renal disease in the acquired immunodeficiency syndrome in north central Nigeria.

artículo científico publicado en 2003

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

scientific article published on 08 October 2019

Susceptible and Prognostic Genetic Factors Associated with Diabetic Peripheral Neuropathy: A Comprehensive Literature Review.

artículo científico publicado en 2018

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

artículo científico publicado en 2019

The Prevalence of the Prothrombin (F2) 20210G>A Mutation in a Cohort of Sri Lankan Patients with Thromboembolic Disorders

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Williams–Beuren syndrome in diverse populations

artículo científico publicado en 2018

Lista de obras de Nirmala D Sirisena

22q11.2 deletion syndrome in diverse populations.

A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene

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.

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.

Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

Authors reply re: HLA-B27 allele frequency in Sri Lankan patients with spondyloarthritides

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

Carriage rate of hepatitis-B surface antigen (HBsAg) in an urban community in Jos, Plateau State, Nigeria.

Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.

Cornelia de Lange syndrome in diverse populations

Correspondence

Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

Down syndrome in diverse populations.

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

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

Focusing attention on ancestral diversity within genomics research: a potential means for promoting equity in the provision of genomics based healthcare services in developing countries

Frontometaphyseal dysplasia 1 in a patient from Sri Lanka

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

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

Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Genetic determinants of sporadic breast cancer in Sri Lankan women

Genetics and genomic medicine in Sri Lanka.

Genotype data for single nucleotide polymorphism markers in sporadic breast cancer related genes in a Sri Lankan case-control cohort of postmenopausal women

HLA-B27 allele frequency in Sri Lankan patients with spondyloarthritides.

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

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

Noonan syndrome in diverse populations.

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

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

Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea

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

Renal disease in the acquired immunodeficiency syndrome in north central Nigeria.

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

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

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

Susceptible and Prognostic Genetic Factors Associated with Diabetic Peripheral Neuropathy: A Comprehensive Literature Review.

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans

The Prevalence of the Prothrombin (F2) 20210G>A Mutation in a Cohort of Sri Lankan Patients with Thromboembolic Disorders

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

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

Williams–Beuren syndrome in diverse populations