List of works - Kausik Mandal

A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

scientific article published on 4 April 2012

Acute transverse myelitis following hepatitis E virus infection.

scientific article published in April 2006

Berardinelli-Seip congenital lipodystrophy

scientific article published on 01 May 2006

Bidirectional ventricular tachycardia of unusual etiology

scientific article published on November 2015

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene

scientific article published on 01 February 2016

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

scientific article published on 21 April 2015

Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation.

scientific article published in April 2016

Congenital swan neck deformity of fingers with syndactyly

scientific article published on 01 April 2008

Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).

scientific article published on 15 March 2018

Cover Image, Volume 173A, Number 9, September 2017.

scientific article published in September 2017

Does cytokine gene polymorphism affect steroid responses in idiopathic nephrotic syndrome?

scientific article

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene

scientific article published on 01 April 2019

Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.

scientific article published on April 2017

Fabry disease: a treatable lysosomal storage disorder

scientific article published on 01 January 2009

Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation

scientific article published in July 2011

Fanconi- Bickel Syndrome: mutation in an Indian patient

scientific article published on 05 October 2011

Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.

scientific article

Homocysteine, fibrinogen and lipid profile in children of young adults with coronary artery disease.

scientific article published in February 2011

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome

scientific article published on 4 June 2017

Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum

scientific article published on 01 February 2016

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

scientific article published on 26 May 2016

Incessant left ventricular tachycardia of unusual etiology

scientific article published on May 2016

Milder form of pachydermoperiostosis: a report of four cases

scientific article published on 01 April 2009

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls

scientific article published on 9 February 2018

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies

scientific article published on 12 September 2017

Noonan syndrome in diverse populations.

scientific article

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux

scientific article published in December 2016

Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy

scientific article published on 3 June 2016

Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation

scientific article published in May 2014

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature

scientific article

Phenotypic characterization of derivative 22 syndrome: case series and review

article

Prenatal diagnosis in India is not limited to sex selection.

scientific article

Pycnodysostosis: mutation spectrum in five unrelated Indian children

scientific article published on 01 July 2016

Smith-Magenis Syndrome: Face Speaks

scientific article published on 17 December 2015

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

scientific article published on 24 June 2016

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families

scientific article published on 18 October 2016

Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population

scientific article published on 01 June 2018

Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation

scientific article published in October 2009

List of works by Kausik Mandal

A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

Acute transverse myelitis following hepatitis E virus infection.

Berardinelli-Seip congenital lipodystrophy

Bidirectional ventricular tachycardia of unusual etiology

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation.

Congenital swan neck deformity of fingers with syndactyly

Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).

Cover Image, Volume 173A, Number 9, September 2017.

Does cytokine gene polymorphism affect steroid responses in idiopathic nephrotic syndrome?

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene

Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.

Fabry disease: a treatable lysosomal storage disorder

Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation

Fanconi- Bickel Syndrome: mutation in an Indian patient

Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.

Homocysteine, fibrinogen and lipid profile in children of young adults with coronary artery disease.

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome

Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Incessant left ventricular tachycardia of unusual etiology

Milder form of pachydermoperiostosis: a report of four cases

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies

Noonan syndrome in diverse populations.

Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux

Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy

Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature

Phenotypic characterization of derivative 22 syndrome: case series and review

Prenatal diagnosis in India is not limited to sex selection.

Pycnodysostosis: mutation spectrum in five unrelated Indian children

Smith-Magenis Syndrome: Face Speaks

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families

Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population

Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation