List of works - Renu Saxena

A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-

scientific article published in November 2001

Regional distribution of beta-thalassemia mutations in India.

scientific article

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

scientific article

Past, present & future scenario of thalassaemic care & control in India

scientific article published on October 2011

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family

scientific article

Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians

scientific article published on January 1, 2013

Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations.

scientific article published in January 2007

Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital.

scientific article

A novel mutation of the leptin gene in an Indian patient

scientific article published on 5 December 2013

Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population.

scientific article published in October 2003

Prenatal diagnosis of beta-thalassaemia: experience in a developing country

scientific article published on 01 January 1998

Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies

scientific article published on 04 March 2011

Fanconi-Bickel syndrome - mutation in SLC2A2 gene

scientific article published on 10 June 2014

A clinical and cytogenetic study of Turner syndrome

scientific article published on 01 April 1995

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

scientific article published on 03 December 2012

Citrin deficiency: A treatable cause of acute psychosis in adults

scientific article published on 01 March 2015

Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1)

scientific article published on 01 August 2005

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations

scientific article published on 02 February 2012

Kearns Sayre Syndrome--case report with review of literature

scientific article published on 10 January 2012

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

scientific article

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing

scientific article

CYP2C9, VKORC1, CYP4F2, ABCB1 and F5 variants: influence on quality of long-term anticoagulation.

scientific article

RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.

scientific article published on 30 August 2016

Gene changes in Duchenne muscular dystrophy: comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques.

scientific article

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

scientific article published on 3 September 2015

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes

scientific article published on 26 May 2016

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

scientific article published on 18 January 2015

Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy

scientific article

Molecular studies of achondroplasia.

scientific article published on April 2009

Prenatal diagnosis of phenylketonuria.

scientific article published in November 2005

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1

scientific article published on 04 April 2016

β-Thalassemia mutations in subjects with borderline HbA₂ values: a pilot study in North India

scientific article published on 06 September 2011

Implication of novel CYP2C9*57 (p.Asn204His) variant in coumarin hypersensitivity.

scientific article published on 11 April 2013

Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I

scientific article published on 01 March 2008

Case report of HbC/beta(0)-thalassemia from India

scientific article published on 01 October 2007

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

scientific article published in January 2016

Ethylmalonic Encephalopathy in an Indian Boy.

scientific article published in October 2016

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations

scientific article published on 14 October 2016

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

scientific article

Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature

scientific article published on March 15, 2012

Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants

scientific article published on 22 January 2011

Higher incidence of C677T polymorphism of the MTHFR gene in North Indian patients with vascular disease.

scientific article published on 28 February 2012

Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY.

scientific article published on 29 June 2015

Lack of any association of the CTLA-4 +49 G/A polymorphism with breast cancer risk in a North Indian population

scientific article

Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected

scientific article published on 15 February 2018

Two cases of pediatric essential thrombocythemia managed effectively with hydroxyurea

scientific article published on 07 October 2012

Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.

scientific article

Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.

scientific article published on 24 February 2014

Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.

scientific article published on December 2011

Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers.

scientific article published on September 2012

List of works by Renu Saxena

A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-

Regional distribution of beta-thalassemia mutations in India.

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Past, present & future scenario of thalassaemic care & control in India

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family

Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians

Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations.

Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital.

A novel mutation of the leptin gene in an Indian patient

Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population.

Prenatal diagnosis of beta-thalassaemia: experience in a developing country

Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies

Fanconi-Bickel syndrome - mutation in SLC2A2 gene

A clinical and cytogenetic study of Turner syndrome

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Citrin deficiency: A treatable cause of acute psychosis in adults

Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1)

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations

Kearns Sayre Syndrome--case report with review of literature

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing

CYP2C9, VKORC1, CYP4F2, ABCB1 and F5 variants: influence on quality of long-term anticoagulation.

RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.

Gene changes in Duchenne muscular dystrophy: comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques.

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy

Molecular studies of achondroplasia.

Prenatal diagnosis of phenylketonuria.

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1

β-Thalassemia mutations in subjects with borderline HbA₂ values: a pilot study in North India

Implication of novel CYP2C9*57 (p.Asn204His) variant in coumarin hypersensitivity.

Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I

Case report of HbC/beta(0)-thalassemia from India

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Ethylmalonic Encephalopathy in an Indian Boy.

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature

Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants

Higher incidence of C677T polymorphism of the MTHFR gene in North Indian patients with vascular disease.

Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY.

Lack of any association of the CTLA-4 +49 G/A polymorphism with breast cancer risk in a North Indian population

Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected

Two cases of pediatric essential thrombocythemia managed effectively with hydroxyurea

Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.

Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.

Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.

Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers.