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1

A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring–Opitz syndrome

Arunachal, Gautham, Danda, Sumita, Omprakash, Sabita, Kumar, Sathish

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 296 KB

english, 2016

2

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

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

Journal:

Journal of Genetics

Year:

2020

File:

PDF, 539 KB

2020

3

Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus

Niranjan Thomas, Sumita Danda, Manish Kumar, Atanu Kumar Jana, Giangiorgio Crisponi, Alessandra Meloni, Laura Crisponi

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 96 KB

english, 2008

4

Gallstones in a patient with homocystinuria

Eddy Tjandrajana, Sunil Agarwal, Sumita Danda

Journal:

Indian Journal of Gastroenterology

Year:

2009

Language:

english

File:

PDF, 530 KB

english, 2009

5

Fanconi- Bickel Syndrome: Mutation in An Indian Patient

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

Journal:

Indian Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 108 KB

english, 2012

6

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Anas M. Alazami, Amr Al-Saif, Abdulaziz Al-Semari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Colak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kai

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.16 MB

english, 2008

7

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

Ashwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, Tatjana Bierhals, Madhusudan R. Nandineni, Sumita Danda, Debashish Danda, Hitesh Shah, Sandeep Vijayan, Kalpana Gowrishankar, Shubha R Phadk

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 702 KB

english, 2012

8

NOVEL GLOMULIN MUTATIONS, WHICH ALTER VASCULAR SMOOTH MUSCLE CELL DIFFERENTIATION AND RESULT IN GLOMUVENOUS MALFORMATIONS, REVEAL STRONG FOUNDER EFFECT FOR TWO OF THE MUTATIONS

Pascal Brouillard, Michella Ghassibé, Anthony Pennington, Laurence M Boon, Anne Dompmartin, Karen Temple, Maria Cordisco, Denise Adams, Frédéric Piette, John Harper, Christine Labrèze, Sumita Danda, O

Journal:

Cardiovascular Pathology

Year:

2004

Language:

english

File:

PDF, 19 KB

english, 2004

9

Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence in situ hybridization by chromosome microdissection

Jörg Weimer, Subramaniyam Shivakumar, Sumita Danda, Nihal Thomas, Laia Pagerolls Ralui, Walter Jonat, Norbert Arnold

Journal:

Fertility and Sterility

Year:

2007

Language:

english

File:

PDF, 452 KB

english, 2007

10

P6 Comparison of TNF-α polymorphism in systemic lupus erthyematosus, Sjogrens and lepromatous patients with lepra reactions in Indian population—a preliminary study

R Subramanian, Sneha Otto, Sumita Danda, R Subramanian, P Sandhya, Ashish Badika, Ajit Surin, Ruchika Goel, John Mathew, Debashish Danda

Journal:

Indian Journal of Rheumatology

Year:

2010

Language:

english

File:

PDF, 54 KB

english, 2010

11

P46 TNF-α polymorphism in Takayasu's Arteritis—a preliminary study from tertiary centre in South India

Ripal Shah, Shraddha Lonarkar, Sumita Danda, P Sandhya, Ripal Shah, Ruchika Goel, R Subramanian, PP Anoof, Avinash, S Buche, John Mathew, Debashish Danda

Journal:

Indian Journal of Rheumatology

Year:

2010

Language:

english

File:

PDF, 59 KB

english, 2010

12

P52 A pilot study to identify C30S and C55S mutations in the TNFRSF1A gene and M680I mutation in the MEFV gene in patients with suspected periodic fever syndrome

R Subramanian, A Badika, Aparna, I Aisha, D Sumita, K Sathish, J Mathew, D Danda

Journal:

Indian Journal of Rheumatology

Year:

2010

Language:

english

File:

PDF, 71 KB

english, 2010

13

P53 A descriptive analysis of 16 cases of progressive psuedorheumatoid arthritis of childhood and radiological comparison with juvenile idiopathic arthritis

Alka V Ekbote, Debashish Danda, K Sathish, Sridhar Gibikote, Sumita Danda

Journal:

Indian Journal of Rheumatology

Year:

2011

Language:

english

File:

PDF, 84 KB

english, 2011

14

An Indian Boy with Additional Features in Pallister-Killian Syndrome

Krati Shah, Renu George, Evangelynn Singh Balla, Samuel P. Oommen, Caroline S. Padankatti, Vivi M Srivastava, Sumita Danda

Journal:

Indian Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 141 KB

english, 2012

15

Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population

Uttarilli, Anusha, Jain, S Jamal, Dalal, Ashwin B, Ranganath, Prajnya, Phadke, Shubha R, Kumar, Girisha, Sankar, Null, Patil, SJ, Kabra, Madhulika, Danda, Sumita

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 64 KB

english, 2014

16

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: Review of literature in comparison with Juvenile Idiopathic Arthritis

Ekbote, Alka V., Danda, Debashish, Kumar, Sathish, Danda, Sumita, Madhuri, Vrisha, Gibikote, Sridhar

Journal:

Seminars in Arthritis and Rheumatism

Year:

2013

Language:

english

File:

PDF, 632 KB

english, 2013

17

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

Augustine, Ann Mary, Jana, Atanu Kumar, Kuruvilla, Kurien Anil, Danda, Sumita, Lepcha, Anjali, Ebenezer, Jareen, Paul, Roshna Rose, Tyagi, Amit, Balraj, Achamma

Journal:

Indian Pediatrics

Year:

2014

Language:

english

File:

PDF, 1.29 MB

english, 2014

18

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Bidchol, Abdul Mueed, Dalal, Ashwin, Shah, Hitesh, S, Suryanarayana, Nampoothiri, Sheela, Kabra, Madhulika, Gupta, Neerja, Danda, Sumita, Gowrishankar, Kalpana, Phadke, Shubha R., Kapoor, Seema, Kamat

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 362 KB

english, 2014

19

An Indian Boy with Nephropathic Cystinosis: A Case Report and Molecular Analysis of CTNS Mutation

Tang, Sha, Danda, Sumita, Zoleikhaeian, Mehrdad, Simon, Mariella, Huang, Taosheng

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 3.50 MB

english, 2009

20

Cytokine gene polymorphisms in Asian Indian patients with Takayasu’s Arteritis (TA) – a single center study

Danda, Debashish, Hindhumathi, M., Ruchika, Goel, Jayakanthan, K., Jeyaseelan, L., Jeyaseelan, Visali, Joseph, George, Danda, Sumita

Journal:

Indian Journal of Rheumatology

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

21

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

Danda, Sumita, van Rahden, Vanessa A., John, Deepa, Paul, Padma, Raju, Renu, Koshy, Santosh, Kutsche, Kerstin

Journal:

Molecular Syndromology

Year:

2014

Language:

english

File:

PDF, 621 KB

english, 2014

22

Prenatal diagnosis in India is not limited to sex selection

Dalal, Ashwin B., Ranganath, Prajnya, Phadke, Shubha R., Kabra, Madhulika, Danda, Sumita, Puri, Ratna Dua, V.H., Sankar, Gupta, Neerja, Patil, S.J., Mandal, Kausik, Tamhankar, Parag, Aggarwal, Shagun,

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 311 KB

english, 2015

23

Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation

Koshy, Beena, Mandal, Kausik, Srivastava, Vivi M., Loius, Preeti T., Danda, Sumita

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 156 KB

english, 2011

24

Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort

Kumaran, Dhanya, Balagopal, Krishnan, Tharmaraj, Reginald, Aaron, Sanjith, George, Kuryan, Muliyil, Jayaprakash, Sivadasan, Ajith, Danda, Sumita, Alexander, Mathew, Hasan, Gaiti

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.17 MB

english, 2014

25

Recurrent and novel GLB1 mutations in India

Bidchol, Abdul Mueed, Dalal, Ashwin, Trivedi, Rakesh, Shukla, Anju, Nampoothiri, Sheela, Sankar, V.H., Danda, Sumita, Gupta, Neerja, Kabra, Madhulika, Hebbar, Shrikiran A., Bhat, Ramesh Y., Matta, Div

Journal:

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

26

Prevalence of histone family e 1 (hfe) mutant alleles in a tamilian cohort from Vellore, South India

danda, Sumita, kuruvilla, KA, Kurian, G, Eapen, CE, Santhosh, S, Chandy, GM

Journal:

Indian Journal of Medical Sciences

Year:

2010

Language:

english

File:

PDF, 178 KB

english, 2010

27

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

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

Journal:

Journal of Clinical Research in Pediatric Endocrinology

Year:

2014

Language:

english

File:

PDF, 137 KB

english, 2014

28

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

Mammen, Suraj, Raju, Renu, Chacko, AriG, Danda, Sumita, Keshava, ShyamkumarN

Journal:

Neurology India

Year:

2012

Language:

english

File:

PDF, 602 KB

english, 2012

29

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Keng, Wee Teik, King, Mary D., McCann, E

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 2.85 MB

english, 2015

30

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

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, Car

Journal:

The Journal of Investigative Dermatology

Year:

2012

Language:

english

File:

PDF, 4.14 MB

english, 2012

31

“Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN)

Yoganathan, Sangeetha, Sudhakar, Sniya Valsa, Thomas, Maya, Dutta, Atanu Kumar, Danda, Sumita

Journal:

Brain and Development

Year:

2015

Language:

english

File:

PDF, 690 KB

english, 2015

32

Restrictive Dermopathy

Dutta, Atanu Kumar, Danda, Sumita

Journal:

Pediatrics & Neonatology

Year:

2015

Language:

english

File:

PDF, 336 KB

english, 2015

33

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

Dutta, Atanu Kumar, Danda, Sumita, Muthusamy, Karthik, Alexander, Mathew, Sudhakar, Sniya Valsa, Hansdak, Samuel, Bandyopadhyay, Rini, Bakhya Shree, G.B., Rekha, L.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 511 KB

english, 2015

34

Genetic analysis of consanguineous families presenting with congenital ocular defects

Ullah, Ehsan, Nadeem Saqib, Muhammad Arif, Sajid, Sundus, Shah, Neelam, Zubair, Muhammad, Khan, Muzammil Ahmad, Ahmed, Iftikhar, Ali, Ghazanfar, Dutta, Atanu Kumar, Danda, Sumita, Lao, Richard, Ling-F

Journal:

Experimental Eye Research

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

35

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification

Yoganathan, Sangeetha, Arunachal, Gautham, Sudhakar, Sniya, Rajaraman, Venkateswaran, Thomas, Maya, Danda, Sumita

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 280 KB

english, 2016

36

Novel and recurrent mutations in WISP3 and an atypical phenotype

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

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 626 KB

english, 2015

37

Three siblings with Woodhouse–Sakati syndrome in an Indian family

Koshy, George, Danda, Sumita, Thomas, Nihal, Mathews, Vikram, Viswanathan, Vijay

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 220 KB

english, 2008

38

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 2.19 MB

english, 2016

39

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

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,

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

40

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

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

Journal:

International Journal of Rheumatic Diseases

Year:

2017

Language:

english

File:

PDF, 323 KB

english, 2017

41

Interleukin-17F and Interleukin-6 gene polymorphisms in Asian Indian patients with Takayasu arteritis

Danda, Debashish, Goel, Ruchika, Danda, Sumita, Mohan, Hindhumathi, Joseph, George, Kabeerdoss, Jayakanthan, Nath, Swapan K

Journal:

Human Immunology

Year:

2017

Language:

english

File:

PDF, 706 KB

english, 2017

42

De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities

Dutta, Atanu K., Ekbote, Alka V., Thomas, Niranjan, Omprakash, Sabitha, Danda, Sumita

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 87 KB

english, 2016

43

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

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

Journal:

Rheumatology International

Year:

2017

Language:

english

File:

PDF, 775 KB

english, 2017

44

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

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

Journal:

International Journal of Rheumatic Diseases

Year:

2017

Language:

english

File:

PDF, 235 KB

english, 2017

45

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 312 KB

english, 2017

46

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Mistry, Pramod K., Balwani, Manisha, Baris, Hagit N., Turkia, Hadhami Ben, Burrow, T. Andrew, Charrow, Joel, Cox, Gerald F., Danda, Sumita, Dragosky, Marta, Drelichman, Guillermo, El-Beshlawy, Amal, F

Journal:

Blood Cells, Molecules, and Diseases

Year:

2018

Language:

english

File:

PDF, 242 KB

english, 2018

47

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

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

Journal:

Genetics Research International

Year:

2016

Language:

english

File:

PDF, 2.05 MB

english, 2016

48

Congenital Myasthenic Syndrome

Selvam, Pavalan, Arunachal, Gautham, Danda, Sumita, Chapla, Aaron, Sivadasan, Ajith, Alexander, Mathew, Thomas, Maya Mary, Thomas, Nihal J.

Journal:

Journal of Clinical Neuromuscular Disease

Year:

2018

Language:

english

File:

PDF, 494 KB

english, 2018

49

High expression of S100 calgranulins genes in peripheral blood mononuclear cells in patients with Takayasu arteritis

Jayakanthan, Kabeerdoss, Meera, Thomas, Ruchika, Goel, Hindumathi, Mohan, Sumita, Danda, Jeyaseelan, L., Debashish, Danda

Journal:

Year:

2019

Language:

english

File:

PDF, 1.78 MB

english, 2019

50

Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

Mistry, Pramod K., Balwani, Manisha, Baris, Hagit N., Turkia, Hadhami Ben, Burrow, T. Andrew, Charrow, Joel, Cox, Gerald F., Danda, Sumita, Dragosky, Marta, Drelichman, Guillermo, El-Beshlawy, Amal, F

Journal:

Blood Cells, Molecules, and Diseases

Year:

2019

Language:

english

File:

PDF, 441 KB

english, 2019

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