Works matching AU Danda, Sumita

Results: 90

Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India—An LMIC Setting—Over Half a Decade.

Published in:

Prenatal Diagnosis, 2025, v. 45, n. 7, p. 929, doi. 10.1002/pd.6815

By:

James, Lois Sara;
Luke, Noel Deep;
Sindhuvi, Eunice;
Illangovan, Hemalatha;
Aaron, Rekha;
Raja Navaneethan, Preethi;
Gowri, Mahasampath;
Danda, Sumita;
Beck, Manisha Madhai

Publication type:

Article

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

Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature.

Published in:

Clinical Kidney Journal, 2014, v. 7, n. 2, p. 134, doi. 10.1093/ckj/sft162

By:

Korula, Sophy;
Ekbote, Alka;
Kumar, Naresh;
Danda, Sumita;
Agarwal, Indira;
Chaturvedi, Swasti

Publication type:

Article

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1219324

By:

Muthusamy, Karthik;
Sivadasan, Ajith;
Dixon, Luke;
Sudhakar, Sniya;
Thomas, Maya;
Danda, Sumita;
Wszolek, Zbigniew K.;
Wierenga, Klaas;
Dhamija, Radhika;
Gavrilova, Ralitza

Publication type:

Article

C‐reactive protein gene polymorphisms (rs1205) in Asian Indian patients with Takayasu arteritis: Associations and phenotype correlations.

Published in:

International Journal of Rheumatic Diseases, 2018, v. 21, n. 3, p. 732, doi. 10.1111/1756-185X.13180

By:

Nair, Aswin M.;
Goel, Ruchika;
Hindhumati, Mohan;
Shah, Krati;
Chandana, Puneet;
Jayaseelan, Visalakshi;
Jayakanthan, Kabeerdoss;
Joseph, George;
Danda, Sumita;
Danda, Debashish

Publication type:

Article

Soluble‐HLA‐E: A follow up biomarker in Takayasu arteritis, independent of HLA‐E genotype.

Published in:

International Journal of Rheumatic Diseases, 2018, v. 21, n. 2, p. 532, doi. 10.1111/1756-185X.13027

By:

Goel, Ruchika;
Kabeerdoss, Jayakanthan;
Mohan, Hindhumathi;
Danda, Sumita;
Jayaseelan, Visali;
Kumar, T. Sathish;
Jude, John;
Bacon, Paul;
Joseph, George;
Danda, Debashish

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

A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome.

Published in:

Indian Journal of Medical Research, 2019, v. 149, n. 1, p. 47, doi. 10.4103/ijmr.IJMR_1977_16

By:

Danda, Sumita;
Thomas, Blessy;
Paramasivam, G;
Thomas, Raji;
Mathew, John;
Danda, Debashish

Publication type:

Article

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

Published in:

Indian Journal of Medical Research, 2015, v. 142, n. 4, p. 414, doi. 10.4103/0971-5916.169201

By:

Uttarilli, Anusha;
Ranganath, Prajnya;
Nurul Jain, S. Jamal Md;
C., Krishna Prasad;
Sinha, Anupam;
Verma, Ishwar C.;
Phadke, Shubha R.;
Puri, Ratna D.;
Danda, Sumita;
Muranjan, Mamta N.;
Jevalikar, Ganesh;
Nagarajaram, H. A.;
Dalal, Ashwin B.

Publication type:

Article

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients.

Published in:

Indian Journal of Medical Research, 2014, v. 139, n. 1, p. 66

By:

Boggula, Vijay R.;
Shukla, Anju;
Danda, Sumita;
Hariharan, Sankar V.;
Nampoothiri, Sheela;
Kumar, Rashmi;
Phadke, Shubha R.

Publication type:

Article

Tumour necrosis factor (TNF)-α-308 gene polymorphism in Indian patients with Takayasu's arteritis - A pilot study.

Published in:

Indian Journal of Medical Research, 2013, v. 137, n. 4, p. 749

By:

Sandhya, P.;
Danda, Sumita;
Danda, Debashish;
Lonarkar, Shraddha;
Luke, Shana S.;
Sinha, Shanta;
Joseph, George

Publication type:

Article

Serum amyloid A as a marker of disease activity and treatment response in Takayasu arteritis.

Published in:

Rheumatology International, 2017, v. 37, n. 10, p. 1643, doi. 10.1007/s00296-017-3786-2

By:

Nair, Aswin;
Goel, Ruchika;
Hindhumati, M.;
Jayakanthan, K.;
Visalakshi, J.;
Joseph, George;
Danda, Sumita;
Danda, Debashish

Publication type:

Article

Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.

Published in:

Genetics Research International, 2016, p. 1, doi. 10.1155/2016/9872594

By:

Arunachal, Gautham;
Pachat, Divya;
Doss, C. George Priya;
Danda, Sumita;
Pai, Rekha;
Ebenazer, Andrew

Publication type:

Article

The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account.

Published in:

Journal of Clinical & Diagnostic Research, 2019, v. 13, n. 1, p. 1, doi. 10.7860/JCDR/2019/36950.12438

By:

KAMATH, VANDANA;
SRIVASTAVA, VIVI M.;
YUVARANI, S.;
CHACKO, MARY PURNA;
BHATTACHARYA, SAURABH KUMAR;
OOMMEN, SAMUEL PHILLIP;
DANDA, SUMITA;
KORULA, GEORGE

Publication type:

Article

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.

Published in:

2015

By:

Mistry, Pramod K;
Lukina, Elena;
Ben Turkia, Hadhami;
Amato, Dominick;
Baris, Hagit;
Dasouki, Majed;
Ghosn, Marwan;
Mehta, Atul;
Packman, Seymour;
Pastores, Gregory;
Petakov, Milan;
Assouline, Sarit;
Balwani, Manisha;
Danda, Sumita;
Hadjiev, Evgueniy;
Ortega, Andres;
Shankar, Suma;
Solano, Maria Helena;
Ross, Leorah;
Angell, Jennifer

Publication type:

journal article

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1.

Published in:

JAMA: Journal of the American Medical Association, 2015, v. 313, n. 7, p. 695, doi. 10.1001/jama.2015.459

By:

Mistry, Pramod K.;
Lukina, Elena;
Turkia, Hadhami Ben;
Amato, Dominick;
Baris, Hagit;
Dasouki, Majed;
Ghosn, Marwan;
Mehta, Atul;
Packman, Seymour;
Pastores, Gregory;
Petakov, Milan;
Assouline, Sarit;
Balwani, Manisha;
Danda, Sumita;
Hadjiev, Evgueniy;
Ortega, Andres;
Shankar, Suma;
Solano, Maria Helena;
Ross, Leorah;
Angell, Jennifer

Publication type:

Article

Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy.

Published in:

Iranian Journal of Child Neurology, 2018, v. 12, n. 2, p. 107

By:

YOGANATHAN, Sangeetha;
VALSA SUDHAKAR, Sniya;
THOMAS, Maya;
KUMAR DUTTA, Atanu;
DANDA, Sumita;
CHANDRAN, Mahalakshmi

Publication type:

Article

Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.

Published in:

Clinical Genetics, 2024, v. 105, n. 4, p. 453, doi. 10.1111/cge.14465

By:

Kamdar, Payal;
Geetha, Thenral S.;
Palocaren, Thomas;
Kandagaddala, Madhavi;
Chinniah, Praveen Kumar;
Murugan, Sakthivel;
Vedam, Ramprasad;
Danda, Sumita

Publication type:

Article

First reported cases with Xia‐Gibbs syndrome from India harboring novel variants in AHDC1.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2501, doi. 10.1002/ajmg.a.62844

By:

Danda, Sumita;
Datar, Chaitanya;
Kher, Archana;
Deshpande, Tanmay;
Thomas, Maya Mary;
Oommen, Samuel P.

Publication type:

Article

Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 788, doi. 10.1002/ajmg.a.62579

By:

Chaudhary, Ajay Kumar;
Gholse, Aishwarya;
Nagarajaram, Hampapathalu Adimurthy;
Dalal, Ashwin Bhikaji;
Gupta, Neerja;
Dutta, Atanu Kumar;
Danda, Sumita;
Gupta, Rekha;
Sankar, Hariharan V.;
Bhavani, Gandham SriLakshmi;
Girisha, Katta M.;
Phadke, Shubha Rao;
Ranganath, Prajnya;
Bashyam, Murali Dharan

Publication type:

Article

Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1606, doi. 10.1002/ajmg.a.62118

By:

Das, Sweta;
Godbole, Koumudi;
Abraham, Suneetha Susan Cleave;
Ganesan, Paramasivam;
Kamdar, Payal;
Danda, Sumita

Publication type:

Article

Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 596, doi. 10.1002/ajmg.a.61961

By:

Joy, Praisy;
Yoganathan, Sangeetha;
Korula, Sophy;
Abraham, Suneetha Susan C;
Barney, Anitha M;
Walter, Vrisha Madhuri;
Gibikote, Sridhar;
Danda, Sumita

Publication type:

Article

Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3132, doi. 10.1002/ajmg.a.38491

By:

Pekkinen, Minna;
Grigelioniene, Giedre;
Akin, Leyla;
Shah, Krati;
Karaer, Kadri;
Kurtoğlu, Selim;
Ekbote, Alka;
Aycan, Zehra;
Sağsak, Elif;
Danda, Sumita;
Åström, Eva;
Mäkitie, Outi

Publication type:

Article

Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 829, doi. 10.1002/ajmg.a.38040

By:

Ranganath, Prajnya;
Matta, Divya;
Bhavani, Gandham SriLakshmi;
Wangnekar, Savita;
Jain, Jamal Mohammed Nurul;
Verma, Ishwar C.;
Kabra, Madhulika;
Puri, Ratna D.;
Danda, Sumita;
Gupta, Neerja;
Girisha, Katta M.;
Sankar, Vaikom H.;
Patil, Siddaramappa J.;
Devi, Akella Radha Rama;
Bhat, Meenakshi;
Gowrishankar, Kalpana;
Mandal, Kausik;
Aggarwal, Shagun;
Tamhankar, Parag Mohan;
Tilak, Preetha

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2719, doi. 10.1002/ajmg.a.37817

By:

Ranganath, Prajnya;
Matta, Divya;
Bhavani, Gandham SriLakshmi;
Wangnekar, Savita;
Jain, Jamal Mohammed Nurul;
Verma, Ishwar C.;
Kabra, Madhulika;
Puri, Ratna Dua;
Danda, Sumita;
Gupta, Neerja;
Girisha, Katta M.;
Sankar, Vaikom H.;
Patil, Siddaramappa J.;
Ramadevi, Akella Radha;
Bhat, Meenakshi;
Gowrishankar, Kalpana;
Mandal, Kausik;
Aggarwal, Shagun;
Tamhankar, Parag Mohan;
Tilak, Preetha

Publication type:

Article

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2481, doi. 10.1002/ajmg.a.37164

By:

Bhavani, Gandham SriLakshmi;
Shah, Hitesh;
Dalal, Ashwin B.;
Shukla, Anju;
Danda, Sumita;
Aggarwal, Shagun;
Phadke, Shubha R.;
Gupta, Neerja;
Kabra, Madhulika;
Gowrishankar, Kalpana;
Gupta, Anju;
Bhat, Meenakshi;
Puri, Ratna D.;
Bijarnia‐Mahay, Sunita;
Nampoothiri, Sheela;
Mohanasundaram, Kavitha M.;
Rajeswari, S.;
Kulkarni, Akhil M.;
Kulkarni, Muralidhar L.;
Ranganath, Prajnya

Publication type:

Article

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2793, doi. 10.1002/ajmg.a.36735

By:

Bidchol, Abdul Mueed;
Dalal, Ashwin;
Shah, Hitesh;
S, Suryanarayana;
Nampoothiri, Sheela;
Kabra, Madhulika;
Gupta, Neerja;
Danda, Sumita;
Gowrishankar, Kalpana;
Phadke, Shubha R.;
Kapoor, Seema;
Kamate, Mahesh;
Verma, I.C.;
Puri, Ratna Dua;
Sankar, V.H.;
Devi, A. Radha Rama;
Patil, S.J.;
Ranganath, Prajnya;
Jain, S. Jamal Md Nurul;
Agarwal, Meenal

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2820, doi. 10.1002/ajmg.a.35620

By:

Dalal, Ashwin;
Bhavani G, Sri Lakshmi;
Togarrati, Padma Priya;
Bierhals, Tatjana;
Nandineni, Madhusudan R.;
Danda, Sumita;
Danda, Debashish;
Shah, Hitesh;
Vijayan, Sandeep;
Gowrishankar, Kalpana;
Phadke, Shubha R;
Bidchol, Abdul Mueed;
Rao, Anand Prahalad;
Nampoothiri, Sheela;
Kutsche, Kerstin;
Girisha, K.M.

Publication type:

Article

Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.

Published in:

Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-020-01244-4

By:

Kamdar, Payal;
Thomas, Maya;
Yoganathan, Sangeetha;
Muthusamy, Karthik;
Koshy, Beena;
Oommen, Samuel Philip;
Aaron, Rekha;
Barney, Anitha;
Abraham, Suneetha Susan C.;
Danda, Sumita

Publication type:

Article

Association of C4 Null Alleles and Persistently Low C4 in Asian Indian Patients With Systemic Lupus Erythematosus.

Published in:

International Journal of Immunogenetics, 2025, v. 52, n. 1, p. 33, doi. 10.1111/iji.12704

By:

Jeevanagi, Sachin R.;
Mehta, Pankti;
Aaron, Rekha;
Danda, Debashish;
Danda, Sumita;
Kabeerdoss, Jayakanthan

Publication type:

Article

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.

Published in:

2012

By:

Shah, Krati;
Mathew, Vivek;
Gallus, Gian Nicola;
Dotti, Maria Teresa;
Federico, Antonio;
Danda, Sumita

Publication type:

Letter

Endovascular management of carotid-cavernous fistula in Ehlers-Danlos syndrome Type IV.

Published in:

2012

By:

Mammen, Suraj;
Keshava, Shyamkumar N.;
Danda, Sumita;
Raju, Renu;
Chacko, Ari G.

Publication type:

Letter

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

Van der Woude Syndrome: IRF6 Mutations.

Published in:

2019

By:

Sunny, Ansa P.;
Arunachal, Gautham;
Danda, Sumita

Publication type:

Case Study

An Indian Boy with Additional Features in Pallister-Killian Syndrome.

Published in:

Indian Journal of Pediatrics, 2012, v. 79, n. 9, p. 1238, doi. 10.1007/s12098-011-0585-8

By:

Shah, Krati;
George, Renu;
Balla, Evangelynn;
Oommen, Samuel;
Padankatti, Caroline;
Srivastava, Vivi;
Danda, Sumita

Publication type:

Article

Fanconi- Bickel Syndrome: Mutation in An Indian Patient.

Published in:

Indian Journal of Pediatrics, 2012, v. 79, n. 6, p. 810, doi. 10.1007/s12098-011-0568-9

By:

Ekbote, Alka;
Mandal, Kausik;
Agarwal, Indira;
Sinha, Rajiv;
Danda, Sumita

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 82, doi. 10.1002/jmd2.12156

By:

Nampoothiri, Sheela;
Yesodharan, Dhanya;
Bhattacherjee, Amrita;
Ahamed, Hisham;
Puri, Ratna Dua;
Gupta, Neerja;
Kabra, Madhulika;
Ranganath, Prajnya;
Bhat, Meenakshi;
Phadke, Shubha;
Radha Rama Devi, Akella;
Jagadeesh, Sujatha;
Danda, Sumita;
Sylaja, Padmavathy Narayana;
Mandal, Kausik;
Bijarnia‐Mahay, Sunita;
Makkar, Ravinder;
Verma, Ishwar Chander;
Dalal, Ashwin;
Ramaswami, Uma

Publication type:

Article

Are genetic polymorphisms of glutathione S-Transferase P1 gene associated with urothelial carcinoma of the urinary bladder?

Published in:

Clinical Cancer Investigation Journal, 2019, v. 8, n. 6, p. 222, doi. 10.4103/ccij.ccij_84_19

By:

Rampal, Vikas;
Samuel, Benedict;
Danda, Sumita;
Kumar, Santosh;
Devasia, Antony;
Kekre, Nitin

Publication type:

Article

Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature.

Published in:

2014

By:

Ekbote, Alka V.;
Danda, Sumita;
Zankl, Andreas;
Mandal, Kausik;
Maguire, Tina;
Ungerer, Kobus

Publication type:

Case Study

Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.

Published in:

2017

By:

Ralser, Damian J.;
Basmanav, F. Buket Ü.;
Tafazzoli, Aylar;
Wititsuwannakul, Jade;
Delker, Sarah;
Danda, Sumita;
Thiele, Holger;
Wolf, Sabrina;
Busch, Michélle;
Pulimood, Susanne A.;
Altmüller, Janine;
Nürnberg, Peter;
Lacombe, Didier;
Hillen, Uwe;
Wenzel, Jörg;
Frank, Jorge;
Odermatt, Benjamin;
Betz, Regina C.

Publication type:

journal article

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India.

Published in:

Epilepsia Open, 2023, v. 8, n. 4, p. 1383, doi. 10.1002/epi4.12811

By:

Nagarajan, Balamurugan;
Gowda, Vykuntaraju K.;
Yoganathan, Sangeetha;
Sharawat, Indar Kumar;
Srivastava, Kavita;
Vora, Nitish;
Badheka, Rahul;
Danda, Sumita;
Kalane, Umesh;
Kaur, Anupriya;
Madaan, Priyanka;
Mehta, Sanjiv;
Negi, Sandeep;
Panda, Prateek Kumar;
Rajadhyaksha, Surekha;
Saini, Arushi Gahlot;
Saini, Lokesh;
Shah, Siddharth;
Srinivasan, Varunvenkat M.;
Suthar, Renu

Publication type:

Article

Cri du chat syndrome: A series of five cases.

Published in:

Indian Journal of Pathology & Microbiology, 2012, v. 55, n. 4, p. 501, doi. 10.4103/0377-4929.107791

By:

Dangare, Harsha M.;
Oommen, Samuel P.;
Sheth, Amisha N.;
Koshy, Beena;
Roshan, Reeba;
Thomas, Maya M.;
Danda, Sumita;
Srivastava, Vivi M.

Publication type:

Article

Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura.

Published in:

Journal of Investigative Dermatology, 2015, v. 135, n. 2, p. 615, doi. 10.1038/jid.2014.406

By:

Basmanav, F Buket;
Fritz, Günter;
Lestringant, Gilles G;
Pachat, Divya;
Hoffjan, Sabine;
Fischer, Johannes;
Wehner, Maria;
Wolf, Sabrina;
Thiele, Holger;
Altmüller, Janine;
Pulimood, Susanne A;
Rütten, Arno;
Kruse, Roland;
Hanneken, Sandra;
Frank, Jorge;
Danda, Sumita;
Bygum, Anette;
Betz, Regina C

Publication type:

Article

Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing.

Published in:

Journal of Investigative Dermatology, 2012, v. 132, n. 10, p. 2473, doi. 10.1038/jid.2012.146

By:

Busch, Jutta;
Frank, Valeska;
Bachmann, Nadine;
Otsuka, Atoshi;
Oji, Vinzenz;
Metze, Dieter;
Shah, Krati;
Danda, Sumita;
Watzer, Bernhard;
Traupe, Heiko;
Bolz, Hanno J;
Kabashima, Kenji;
Bergmann, Carsten

Publication type:

Article

Neonatal hearing screening - Experience from a tertiary care hospital in Southern India.

Published in:

Indian Pediatrics, 2014, v. 51, n. 3, p. 179, doi. 10.1007/s13312-014-0380-5

By:

Augustine, Ann;
Jana, Atanu;
Kuruvilla, Kurien;
Danda, Sumita;
Lepcha, Anjali;
Ebenezer, Jareen;
Paul, Roshna;
Tyagi, Amit;
Balraj, Achamma

Publication type:

Article

A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.

Published in:

2012

By:

Ekbote, Alka V.;
Danda, Sumita

Publication type:

journal article

Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.

Published in:

2022

By:

A., Rekha;
Chandran, Shanu;
Ghatak, Arpita Roy;
Thomas, Niranjan;
Danda, Sumita

Publication type:

journal article

An Inherited Cause of Stroke Mimic in a Toddler.

Published in:

2022

By:

Yoganathan, Sangeetha;
Kumar, Madhan;
Sushma, Lenka;
Danda, Sumita;
Thomas, Maya

Publication type:

Letter

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0759-1

By:

Sheth, Jayesh;
Bhavsar, Riddhi;
Mistri, Mehul;
Pancholi, Dhairya;
Bavdekar, Ashish;
Dalal, Ashwin;
Ranganath, Prajnya;
Girisha, Katta M;
Shukla, Anju;
Phadke, Shubha;
Puri, Ratna;
Panigrahi, Inusha;
Kaur, Anupriya;
Muranjan, Mamta;
Goyal, Manisha;
Ramadevi, Radha;
Shah, Raju;
Nampoothiri, Sheela;
Danda, Sumita;
Datar, Chaitanya

Publication type:

Article