List of works - Sheela Nampoothiri

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

scientific article

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

scientific article published on 17 September 2012

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management

scientific article

Cardiac Spectrum, Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study ⬇️

scientific article published on August 10, 2013

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

scientific article

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

scientific article published on May 2012

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

scientific article

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

scientific article published on 01 January 2019

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

scientific article published on 15 August 2020

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis

scientific article

Fanconi–Bickel Syndrome ⬇️

scientific article published on February 15, 2011

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

scientific article published on 22 September 2014

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

scientific article published on 21 May 2013

Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations

scientific article published in June 2008

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives

scientific article published on 11 November 2020

Lipoprotein Lipase Deficiency

scientific article published on 30 May 2020

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

scientific article published on 30 October 2012

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

scientific article

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

scientific article published on 17 January 2019

Prenatal detection of congenital high airway obstruction syndrome with encephalocele

scientific article published on January 2016

Prenatal diagnosis of amniotic band syndrome

scientific article published on January 2016

Recurrent and novel GLB1 mutations in India

scientific article

Sirenomelia: Case Reports and Current Concepts of Pathogenesis ⬇️

scientific article published on July 20, 2012

Splice, Insertion‐Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India ⬇️

scientific article published on 01 March 2014

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)

scientific article published on August 2016

The genetic basis of DOORS syndrome: an exome-sequencing study

scientific article

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities

scientific article published on 02 April 2019

Wolman Disease: A Mimic of Infant Leukemia

scientific article published on 23 May 2017

List of works by Sheela Nampoothiri

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Cardiac Spectrum, Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study ⬇️

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis

Fanconi–Bickel Syndrome ⬇️

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations

Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives

Lipoprotein Lipase Deficiency

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

New insights into genotype-phenotype correlation for GLI3 mutations

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

Prenatal detection of congenital high airway obstruction syndrome with encephalocele

Prenatal diagnosis of amniotic band syndrome

Recurrent and novel GLB1 mutations in India

Sirenomelia: Case Reports and Current Concepts of Pathogenesis ⬇️

Splice, Insertion‐Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India ⬇️

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)

The genetic basis of DOORS syndrome: an exome-sequencing study

Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities

Wolman Disease: A Mimic of Infant Leukemia