List of works - Renu Saxena

The tricho-rhino-phalangeal syndromes I and II

scientific article published on 01 May 1992

Karyotyping of at risk fetuses by cordocentesis in advanced gestation

scientific article published on 01 November 1996

Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer.

scientific article published on 21 March 2017

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

scientific article published on October 2011

Prevalence of CYP2C8 polymorphisms in a North Indian population.

scientific article published on 8 July 2013

Utility of molecular studies in incontinentia pigmenti patients

scientific article

Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

article

Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1

scientific article published on 01 April 2010

Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.

scientific article

Cytogenetic effects of psychotropic drug haloperidol on human lymphocytes

scientific article published on 01 January 1984

Genotoxicity evaluation of the tricyclic antidepressants amitriptyline and imipramine using human lymphocyte cultures

scientific article published on 01 January 1988

Persistence of both cords nine months post double cord blood transplantation for juvenile myelomonocytic leukaemia.

scientific article published on 11 May 2013

Detection of beta-thalassaemia mutation insertion ATCT at codon 47/48 by ARMS technique for screening & prenatal diagnosis

scientific article published on 01 June 1997

Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome

scientific article published on 01 April 2010

Does Formaldehyde Increase Cell Free DNA in Maternal Plasma Specimens?

scientific article published on 24 August 2016

Hemoglobinopathies in India--clinical and laboratory aspects.

scientific article published on June 2012

Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy

scientific article published on 01 April 2010

A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family.

scientific article published in January 2007

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

scientific article published on 10 August 2012

Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1

scientific article published on 01 April 2010

A beta-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACT CCT GAG-> ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing

scientific article published on 01 January 2000

Novel human pathological mutations. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1

scientific article published on 01 April 2010

Congenital myotonic dystrophy

scientific article published on 01 May 2001

Novel human pathological mutations. Gene symbol: PAX3. Disease: Waardenburg syndrome

scientific article published on 01 April 2010

List of works by Renu Saxena

The tricho-rhino-phalangeal syndromes I and II

Karyotyping of at risk fetuses by cordocentesis in advanced gestation

Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer.

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Prevalence of CYP2C8 polymorphisms in a North Indian population.

Utility of molecular studies in incontinentia pigmenti patients

Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1

Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.

Cytogenetic effects of psychotropic drug haloperidol on human lymphocytes

Genotoxicity evaluation of the tricyclic antidepressants amitriptyline and imipramine using human lymphocyte cultures

Persistence of both cords nine months post double cord blood transplantation for juvenile myelomonocytic leukaemia.

Detection of beta-thalassaemia mutation insertion ATCT at codon 47/48 by ARMS technique for screening & prenatal diagnosis

Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome

Does Formaldehyde Increase Cell Free DNA in Maternal Plasma Specimens?

Hemoglobinopathies in India--clinical and laboratory aspects.

Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy

A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family.

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1

A beta-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACT CCT GAG-> ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing

Novel human pathological mutations. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1

Congenital myotonic dystrophy

Novel human pathological mutations. Gene symbol: PAX3. Disease: Waardenburg syndrome