List of works - Inusha Panigrahi

A case of short stature with anterior vertebral beaking ⬇️

scientific article published on January 1, 2011

A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?

article

A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces

scientific article

A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options

scientific article published in 2022

Ascariasis-associated worm encephalopathy in a young child.

scientific article published on April 2009

COFS type 3 in an Indian family with antenatally detected arthrogryposis

scientific article published on 21 November 2020

CRELD1 gene variants and atrioventricular septal defects in Down syndrome.

scientific article

Child with Mongolian spots and dysostosis multiplex.

scientific article

Chronic lymphocytic leukemia in India--a clinico-hematological profile

scientific article

Congenital scoliosis, supernumerary nipples and spina bifida occulta

scientific article published on 01 July 2008

Craniosynostosis genetics: The mystery unfolds

scientific article published on May 2011

Cutaneous Rosai-Dorfman disease: presenting as massive bilateral eyelid swelling

scientific article published on 01 September 2009

Cytochemical, immunophenotypic and ultrastructural characterization of acute leukemias: a prospective study of fifty cases: haematological malignancy

scientific article published in June 2006

Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis

scientific article published on 01 August 2010

Distal arthrogryposis syndrome.

scientific article published on May 2008

Do alpha deletions influence hydroxyurea response in thalassemia intermedia?

scientific article published in February 2005

Effect of wheat grass therapy on transfusion requirement in beta-thalassemia major

scientific article

Efficacy of deferasirox in North Indian β-thalassemia major patients: a preliminary report

scientific article published in January 2012

Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major

scientific article published on 28 January 2010

Fibular hemimelia with polysyndactyly: a case report

scientific article published on 01 April 2010

Fulminant candida infection in an infant with Acrodermatitis Enteropathica

scientific article published on 27 May 2009

Genetic Heterogeneity of Beta Globin Mutations among Asian-Indians and Importance in Genetic Counselling and Diagnosis.

scientific article published on 2 January 2013

Genetic determinants of phenotype in beta-thalassemia.

scientific article published on August 2008

Hb Q India: is it always benign?

scientific article published on 01 March 2005

Hemifacial microsomia with pulmonary hypoplasia

scientific article published on 16 May 2010

Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib

scientific article published on 18 July 2019

High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling

scientific article published in July 2004

Hunter syndrome with persistent thrombocytopenia

scientific article published on 20 April 2019

Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome.

scientific article published on January 2012

Indian child with novel variant in OFD1 gene

scientific article published on 17 July 2020

Jaundice and alpha gene triplication in beta-thalassemia: association or causation?

scientific article published on 01 April 2006

Knowledge and attitudes towards haemophilia: the family side and role of haemophilia societies

scientific article published in January 2003

Lissencephaly presenting with congenital hypothyroidism

scientific article published on 01 January 2013

Long-term response to deferiprone therapy in Asian Indians.

scientific article

Macrocephaly-capillary malformation syndrome: three new cases

scientific article published on 24 October 2011

Maternal serum second trimester screening for chromosomal disorders and neural tube defects in a government hospital of North India

scientific article published on 11 October 2012

Methylmalonic Acidemia with Novel MUT Gene Mutations

scientific article published on 12 October 2017

Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies.

scientific article published on 7 February 2012

Neurofibromatosis type 1 with intracranial hemorrhage and horseshoe kidney.

scientific article published in October 2008

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

scientific article published on 21 April 2019

Non-invasive prenatal diagnosis: improved detection rates

scientific article published on 01 February 2011

Novel mutation in a family with WNT1-related osteoporosis.

scientific article published on 23 February 2018

Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

scientific article published on 23 September 2018

Overlapping phenotypes in OFD type II and OFD type VI: report of two cases.

scientific article published on July 2013

Pediatric disorders of sex development.

scientific article published in September 2009

Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series

scientific article published on 01 July 2019

Prenatal diagnosis of Sheldon Hall syndrome

scientific article published on 01 September 2009

Primordial dwarfism: overview of clinical and genetic aspects.

scientific article

Response to zolendronic acid in children with type III osteogenesis imperfecta

scientific article published on 4 February 2010

Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

scientific article

SMN2-deletion in childhood-onset spinal muscular atrophy

scientific article published on 01 July 2001

STR markers for detecting heterogeneity in Indian population.

scientific article published on 17 May 2011

Seizure as the presenting manifestation in Griscelli syndrome type 2.

scientific article

Severe liver dysfunction in an infant with cystic fibrosis masquerading as metabolic liver disease.

scientific article

Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experience

scientific article published on 29 June 2011

Sotos syndrome in two children from India

scientific article published on 17 July 2020

Spontaneous hematomyelia in a child with hemophilia A: a case report

scientific article

Thalassemia intermedia with iron deficiency

scientific article published on 01 December 2009

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

scientific article published on 09 May 2016

The effect of prophylactic antipyretic administration on post-vaccination adverse reactions and antibody response in children: a systematic review

scientific article

The expanding spectrum of thalassemia intermedia.

scientific article published on December 2009

The first case report of a patient with coexisting hemophilia B and Down syndrome

scientific article published on 27 March 2017

Urinary malondialdehyde levels in newborns following delivery room resuscitation

scientific article

Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing

scientific article published on 6 March 2018

Wolf-Hirschhorn syndrome: A case series from India

scientific article published on 10 September 2020

Xmn1-G γ polymorphism and clinical predictors of severity of disease in β-thalassemia intermedia

scientific article published on 13 July 2011

Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling.

scientific article published on January 2014

Zoledronate for Osteogenesis imperfecta: evaluation of safety profile in children

scientific article published on 01 August 2016

List of works by Inusha Panigrahi

A case of short stature with anterior vertebral beaking ⬇️

A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans?

A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces

A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options

Ascariasis-associated worm encephalopathy in a young child.

COFS type 3 in an Indian family with antenatally detected arthrogryposis

CRELD1 gene variants and atrioventricular septal defects in Down syndrome.

Child with Mongolian spots and dysostosis multiplex.

Chronic lymphocytic leukemia in India--a clinico-hematological profile

Congenital scoliosis, supernumerary nipples and spina bifida occulta

Craniosynostosis genetics: The mystery unfolds

Cutaneous Rosai-Dorfman disease: presenting as massive bilateral eyelid swelling

Cytochemical, immunophenotypic and ultrastructural characterization of acute leukemias: a prospective study of fifty cases: haematological malignancy

Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis

Distal arthrogryposis syndrome.

Do alpha deletions influence hydroxyurea response in thalassemia intermedia?

Effect of wheat grass therapy on transfusion requirement in beta-thalassemia major

Efficacy of deferasirox in North Indian β-thalassemia major patients: a preliminary report

Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major

Fibular hemimelia with polysyndactyly: a case report

Fulminant candida infection in an infant with Acrodermatitis Enteropathica

Genetic Heterogeneity of Beta Globin Mutations among Asian-Indians and Importance in Genetic Counselling and Diagnosis.

Genetic determinants of phenotype in beta-thalassemia.

Hb Q India: is it always benign?

Hemifacial microsomia with pulmonary hypoplasia

Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib

High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling

Hunter syndrome with persistent thrombocytopenia

Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome.

Indian child with novel variant in OFD1 gene

Jaundice and alpha gene triplication in beta-thalassemia: association or causation?

Knowledge and attitudes towards haemophilia: the family side and role of haemophilia societies

Lissencephaly presenting with congenital hypothyroidism

Long-term response to deferiprone therapy in Asian Indians.

Macrocephaly-capillary malformation syndrome: three new cases

Maternal serum second trimester screening for chromosomal disorders and neural tube defects in a government hospital of North India

Methylmalonic Acidemia with Novel MUT Gene Mutations

Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies.

Neurofibromatosis type 1 with intracranial hemorrhage and horseshoe kidney.

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

Non-invasive prenatal diagnosis: improved detection rates

Novel mutation in a family with WNT1-related osteoporosis.

Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

Overlapping phenotypes in OFD type II and OFD type VI: report of two cases.

Pediatric disorders of sex development.

Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series

Prenatal diagnosis of Sheldon Hall syndrome

Primordial dwarfism: overview of clinical and genetic aspects.

Response to zolendronic acid in children with type III osteogenesis imperfecta

Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

SMN2-deletion in childhood-onset spinal muscular atrophy

STR markers for detecting heterogeneity in Indian population.

Seizure as the presenting manifestation in Griscelli syndrome type 2.

Severe liver dysfunction in an infant with cystic fibrosis masquerading as metabolic liver disease.

Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experience

Sotos syndrome in two children from India

Spontaneous hematomyelia in a child with hemophilia A: a case report

Thalassemia intermedia with iron deficiency

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

The effect of prophylactic antipyretic administration on post-vaccination adverse reactions and antibody response in children: a systematic review

The expanding spectrum of thalassemia intermedia.

The first case report of a patient with coexisting hemophilia B and Down syndrome

Urinary malondialdehyde levels in newborns following delivery room resuscitation

Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing

Wolf-Hirschhorn syndrome: A case series from India

Xmn1-G γ polymorphism and clinical predictors of severity of disease in β-thalassemia intermedia

Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling.

Zoledronate for Osteogenesis imperfecta: evaluation of safety profile in children