Works by Mohan, Sony

Results: 8

Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria – A Retrospective Cohort Study.

Published in:

Neurology India, 2024, v. 72, n. 6, p. 1174, doi. 10.4103/ni.ni_744_22

By:

Rekha, A;
Sanoop, A.V Muhammed;
Das, Sweta;
Chapla, Aaron;
Srinageshwari, Bhairavi;
Barney, Anitha;
Arunachalam, Gautham;
Mohan, Sony;
Danda, Sumita

Publication type:

Article

Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.

Published in:

Indian Journal of Medical Research, 2024, v. 160, n. 5, p. 1, doi. 10.25259/ijmr_1900_23

By:

Abraham, Suneetha Susan Cleave;
Barney, Anitha;
Mohan, Sony;
Joy, Praisy;
Ganesan, Paramasivam;
Das, Sweta;
Cherupanakkal, Cleetus;
Jose, Arun;
A., Rekha;
Zatkova, Andrea;
Danda, Sumita

Publication type:

Article

Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India.

Published in:

National Medical Journal of India, 2019, v. 32, n. 3, p. 141

By:

MOHAN, SONY;
DANDA, SUMITA;
MATHAI, SARAH;
SIMON, ANNA

Publication type:

Article

Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.

Published in:

Public Health Genomics, 2021, v. 24, n. 3/4, p. 139, doi. 10.1159/000514507

By:

Barney, Anitha M.;
Danda, Sumita;
Abraham, Aby;
Fouzia, N.A.;
Gowdra, Aruna;
Abraham, Suneetha Susan Cleave;
Sony, Mohan;
Das, Sweta;
Korula, Sophy;
Mathai, Sarah;
Simon, Anna;
Kumar, Sathish

Publication type:

Article

Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.

Published in:

Public Health Genomics, 2021, v. 24, n. 1/2, p. 139, doi. 10.1159/000514507

By:

Barney, Anitha M.;
Danda, Sumita;
Abraham, Aby;
Fouzia, N.A.;
Gowdra, Aruna;
Abraham, Suneetha Susan Cleave;
Sony, Mohan;
Das, Sweta;
Korula, Sophy;
Mathai, Sarah;
Simon, Anna;
Kumar, Sathish

Publication type:

Article

Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.

Published in:

Clinical Rheumatology, 2020, v. 39, n. 9, p. 2743, doi. 10.1007/s10067-020-05020-8

By:

Danda, Sumita;
Mohan, Sony;
Devaraj, Prabavathi;
Dutta, Atanu K.;
Nampoothiri, Sheela;
Yesodharan, Dhanya;
Phadke, Shubha R.;
Jalan, Anil B.;
Thangaraj, K.;
Verma, Ishwar Chandra;
Danda, Debashish;
Jebaraj, Isaac

Publication type:

Article

Long‐Term Follow‐Up of a Patient with a De Novo p.Arg769Cys Mutation in the ATP1A3 Gene.

Published in:

Movement Disorders Clinical Practice, 2021, v. 8, n. 8, p. 1263, doi. 10.1002/mdc3.13332

By:

Chouksey, Anjali;
Vijayaraghavan, Asish;
Mohan, Sony;
Inturi, Srija;
Prabhakar, A.T.;
Mathew, Vivek

Publication type:

Article

Restrictive Dermopathy Due to ZMPSTE24 Mutation: A Case Report with a Novel Finding of Corpus Callosum Agenesis.

Published in:

Indian Journal of Dermatology, 2024, v. 69, n. 1, p. 95, doi. 10.4103/ijd.ijd_681_23

By:

Chiramel, Minu Jose;
Sathishkumar, Dharshini;
Santhanam, Sridhar;
Ponmudi, Nithya J.;
Telugu, Ramesh Babu;
Mohan, Sony;
Athiyarath, Rekha

Publication type:

Article