Works matching AU Chapla, Aaron

Results: 24

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.64023

By:

Selina, Agnes;
Kandagaddala, Madhavi;
Thomas, Nihal;
Paul, Thomas;
Chapla, Aaron;
Danda, Sumita;
Madhuri, Vrisha

Publication type:

Article

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

Cathepsin K Mutation—A Subtle Clinical Presentation.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 8, p. 1, doi. 10.1210/jendso/bvac102

By:

Nandipati, Venkata Sandeep;
Chapla, Aaron;
Jebasingh, Felix K;
Charlu, Arun Paul;
Jepegnanam, Thilak Samuel;
Cherian, Kripa Elizabeth;
Paul, Thomas V;
Thomas, Nihal

Publication type:

Article

Heterogeneity in the aetiology of diabetes mellitus in young adults: A prospective study from north India.

Published in:

Indian Journal of Medical Research, 2019, v. 149, n. 4, p. 479, doi. 10.4103/ijmr.IJMR_1004_17

By:

Sahoo, Saroj Kumar;
Zaidi, Ghazala;
Vipin, Valam Puthussery;
Chapla, Aaron;
Thomas, Nihal;
Liping Yu;
Asthana, Pranjul;
Bhatia, Eesh

Publication type:

Article

Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.

Published in:

Clinical Case Reports, 2016, v. 4, n. 1, p. 87, doi. 10.1002/ccr3.462

By:

George, Renu;
Santhanam, Sridhar;
Samuel, Rekha;
Chapla, Aaron;
Hilmarsen, Hilde Tveitan;
Braathen, Geir Julius;
Reinholt, Finn P.;
Jahnsen, Frode;
Khnykin, Denis

Publication type:

Article

Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Published in:

Clinical Endocrinology, 2015, v. 82, n. 4, p. 533, doi. 10.1111/cen.12541

By:

Chapla, Aaron;
Mruthyunjaya, Mahesh Doddabelavangala;
Asha, Hesarghatta Shyamasunder;
Varghese, Denny;
Varshney, Manika;
Vasan, Senthil K.;
Venkatesan, Padmanaban;
Nair, Veena;
Mathai, Sarah;
Paul, Thomas Vizhalil;
Thomas, Nihal

Publication type:

Article

Congenital Adrenal Hyperplasia--A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.

Published in:

Indian Journal of Endocrinology & Metabolism, 2024, v. 28, n. 2, p. 117, doi. 10.4103/ijem.ijem_303_23

By:

Ravichandran, Lavanya;
Asha, Hesarghatta S.;
Mathai, Sarah;
Thomas, Nihal;
Chapla, Aaron

Publication type:

Article

Genetic heterogeneity and challenges in the management of permanent neonatal diabetes mellitus: A single-centre study from South India.

Published in:

Indian Journal of Endocrinology & Metabolism, 2022, v. 26, n. 1, p. 79, doi. 10.4103/ijem.ijem_429_21

By:

Korula, Sophy;
Ravichandran, Lavanya;
Paul, Praveen;
Johnson, Jabasteen;
Chapla, Aaron;
Santhanam, Sridhar;
Simon, Anna;
Mathai, Sarah

Publication type:

Article

Molecular diagnosis of maturity onset diabetes of the young in India.

Published in:

Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. 3, p. 430, doi. 10.4103/2230-8210.111636

By:

Nair, Veena V.;
Chapla, Aaron;
Arulappan, Nishanth;
Thomas, Nihal

Publication type:

Article

Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0168656

By:

Doddabelavangala Mruthyunjaya, Mahesh;
Chapla, Aaron;
Hesarghatta Shyamasunder, Asha;
Varghese, Deny;
Varshney, Manika;
Paul, Johan;
Inbakumari, Mercy;
Christina, Flory;
Varghese, Ron Thomas;
Kuruvilla, Kurien Anil;
V. Paul, Thomas;
Jose, Ruby;
Regi, Annie;
Lionel, Jessie;
Jeyaseelan, L.;
Mathew, Jiji;
Thomas, Nihal

Publication type:

Article

Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.

Published in:

2025

By:

John, Rebecca;
Chapla, Aaron;
Chacko, Geeta;
Yoganathan, Sangeetha;
Thomas, Maya Mary;
Thomas, Nihal

Publication type:

Case Study

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 12, p. 1505, doi. 10.1515/jpem-2021-0403

By:

Dodamani, Manjunath Havalappa;
Sehemby, Manjeetkaur;
Memon, Saba Samad;
Sarathi, Vijaya;
Lila, Anurag R.;
Chapla, Aaron;
Bhandare, Vishwambhar Vishnu;
Patil, Virendra A.;
Shah, Nalini S.;
Thomas, Nihal;
Kunwar, Ambarish;
Bandgar, Tushar R.

Publication type:

Article

Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 1, p. 87, doi. 10.1515/jpem-2017-0238

By:

Korula, Sophy;
Chapla, Aaron;
Priyambada, Leena;
Mathai, Sarah;
Simon, Anna

Publication type:

Article

WFS1 Gene–associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. 1328, doi. 10.1210/clinem/dgac002

By:

Chapla, Aaron;
Johnson, Jabasteen;
Korula, Sophy;
Mohan, Nisha;
Ahmed, Anish;
Varghese, Deny;
Rangasamy, Parthiban;
Ravichandran, Lavanya;
Jebasingh, Felix;
Agrawal, Krishna Kumar;
Somasundaram, Noel;
Shyamasunder, Asha Hesarghatta;
Mathai, Sarah;
Simon, Anna;
Jha, Sujeet;
Chowdry, Subhankar;
Venkatesan, Radha;
Raghupathy, Palany;
Thomas, Nihal

Publication type:

Article

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-79516-7

By:

Rajan, Remya;
Chapla, Aaron;
Johnson, Jabasteen;
Varghese, Deny;
Asha, H. S.;
Jebasingh, Felix;
Kapoor, Nitin;
Paul, Thomas V.;
Thomas, Nihal

Publication type:

Article

An Atypical Form of Diabetes Among Individuals With Low BMI.

Published in:

Diabetes Care, 2022, v. 45, n. 6, p. 1428, doi. 10.2337/dc21-1957

By:

Lontchi-Yimagou, Eric;
Dasgupta, Riddhi;
Anoop, Shajith;
Kehlenbrink, Sylvia;
Koppaka, Sudha;
Goyal, Akankasha;
Venkatesan, Padmanaban;
Livingstone, Roshan;
Ye, Kenny;
Chapla, Aaron;
Carey, Michelle;
Jose, Arun;
Rebekah, Grace;
Wickramanayake, Anneka;
Joseph, Mini;
Mathias, Priyanka;
Manavalan, Anjali;
Kurian, Mathews Edatharayil;
Inbakumari, Mercy;
Christina, Flory

Publication type:

Article

High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia.

Published in:

Endocrine (1355008X), 2024, v. 85, n. 1, p. 363, doi. 10.1007/s12020-024-03747-x

By:

Ravichandran, Lavanya;
Paul, Shriti;
A, Rekha;
HS, Asha;
Mathai, Sarah;
Simon, Anna;
Danda, Sumita;
Thomas, Nihal;
Chapla, Aaron

Publication type:

Article

Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome.

Published in:

Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/4218514

By:

Senthilraja, Manickavasagam;
Chapla, Aaron;
Jebasingh, Felix K.;
Naik, Dukhabhandhu;
Paul, Thomas V.;
Thomas, Nihal

Publication type:

Article

Genetic predisposition and high exposure to colistin in the early treatment period as independent risk factors for colistin‐induced nephrotoxicity.

Published in:

CTS: Clinical & Translational Science, 2024, v. 17, n. 3, p. 1, doi. 10.1111/cts.13764

By:

Mathew, Sumith K.;
Chapla, Aaron;
Venkatesan, Padmanaban;
Eriyat, Vishnu;
Aruldhas, Blessed Winston;
Prabha, Ratna;
Neely, Michael N.;
Rao, Shoma V.;
Kandasamy, Subramani;
Mathew, Binu Susan

Publication type:

Article

Association of genetic variants with response to iron supplements in pregnancy.

Published in:

Genes & Nutrition, 2015, v. 10, n. 4, p. 1, doi. 10.1007/s12263-015-0474-2

By:

Athiyarath, Rekha;
Shaktivel, Kalaiselvi;
Abraham, Vinod;
Singh, Daisy;
Bondu, Joseph Dian;
Chapla, Aaron;
George, Biju;
Srivastava, Alok;
Edison, Eunice Sindhuvi

Publication type:

Article

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

Published in:

Pediatric Dermatology, 2022, v. 39, n. 3, p. 420, doi. 10.1111/pde.14944

By:

Chiramel, Minu Jose;
Mathew, Lydia;
Athirayath, Rekha;
Chapla, Aaron;
Sathishkumar, Dharshini;
Mani, Thenmozhi;
Danda, Sumita;
George, Renu

Publication type:

Article

Monogenic diabetes-diagnostic conundrums.

Published in:

International Journal of Diabetes in Developing Countries, 2016, v. 36, n. 1, p. 1, doi. 10.1007/s13410-016-0476-7

By:

Chapla, Aaron;
Jebasingh, Felix;
Thomas, Nihal

Publication type:

Article

Comprehensive Overview of Congenital Adrenal Hyperplasia and its Genetic Diagnosis Among Children and Adolescents.

Published in:

Journal of Pediatric Endocrinology & Diabetes, 2022, v. 2, n. 3, p. 1, doi. 10.25259/JPED_4_2023

By:

Korula, Sophy;
Chapla, Aaron;
Ravichandran, Lavanya;
George, Arun

Publication type:

Article

Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.

Published in:

Indian Dermatology Online Journal, 2025, v. 16, n. 2, p. 263, doi. 10.4103/idoj.idoj_317_24

By:

Somasundaram, Arun;
Chiramel, Minu Jose;
Chapla, Aaron;
Sathishkumar, Dharshini;
Athiyarath, Rekha;
Mathew, Lydia;
Danda, Sumita

Publication type:

Article