Hand Radiographs in Skeletal Dysplasia: A Pictorial Review

Authors: Dheeksha D. S., Stuti Chandola, Aayush Jain, Neerja Gupta, Madhulika Kabra, Manisha Jana

Source: Indian Journal of Radiology and Imaging, Vol 34, Iss 02, Pp 291-308 (2024)

Subject Terms: skeletal dysplasia, hand radiographs, progressive pseudorheumatoid arthropathy, mucopolysaccharidosis, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: https://doaj.org/toc/0971-3026; https://doaj.org/toc/1998-3808

Access URL: https://doaj.org/article/ef65753fb439466d8186d2a120891724

Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution Experience

Authors: Amit Gupta, Neerja Gupta, Madhulika Kabra, Tejinder Kaur, Pavan Gabra, Maroof A. Khan, Manisha Jana

Source: Indian Journal of Radiology and Imaging, Vol 33, Iss 02, Pp 144-149 (2023)

Subject Terms: skeletal dysplasia, structured reporting, skeletal survey, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: https://doaj.org/toc/0971-3026; https://doaj.org/toc/1998-3808

Access URL: https://doaj.org/article/bb6167df5a784d6e88ee10532d0cbb03

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

Authors: Aradhana Dwivedi, Amita Moirangthem, Himani Pandey, Pankaj Sharma, Priyanka Srivastava, Prabhaker Yadav, Deepti Saxena, Shubha Phadke, Preeti Dabadghao, Neerja Gupta, Madhulika Kabra, Rekha Goyal, Rituparna Biswas, Swayamsidha Mangaraj, Debarati Bhar, Subhankar Chowdhury, Amit Agarwal, Kausik Mandal

Source: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-9 (2022)

Subject Terms: Von Hippel–Lindau syndrome, Molecular sequencing data, Copy number variation, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/6cc8ac5c5b1840e7afb83b3bbc0f9f2f

Genomic surveillance of SARS-CoV-2 upsurge in India due to Omicron sub-lineages BA.2.74, BA.2.75 and BA.2.76

Authors: Urvashi B. Singh, Sushanta Deb, Lata Rani, Deepika Bhardwaj, Ritu Gupta, Madhulika Kabra, Kiran Bala, Lata Kumari, Sowjanya Perumalla, Jyoti Shukla, Jamshed Nayer, Praveen Aggarwal, Vineet Ahuja, Rama Chaudhry, Subrata Sinha, Randeep Guleria

Source: The Lancet Regional Health - Southeast Asia, Vol 11, Iss , Pp 100148- (2023)

Subject Terms: Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772368223000082; https://doaj.org/toc/2772-3682

Access URL: https://doaj.org/article/5e7666218b9c4be88cdc5d033757cde0

IndiCleft – A web-based standardized research tool and resource for cleft anomalies

Authors: O P Kharbanda, Ashoo Grover, Savita Dawar, Karoon Aggarwal, S C Sharma, Maneesh Singhal, Shashank Chauhan, Harpreet Singh, Madhulika Kabra, Neeraja Gupta, Vinod Scaria, MriduPobon Rajkhowa, ArtiGarg, Nitika Monga, Ravinder Singh, R S Dhaliwal

Source: Journal of Cleft Lip Palate and Craniofacial Anomalies, Vol 9, Iss 2, Pp 163-169 (2022)

Subject Terms: cleft lip and palate, indicleft, web-based tool, Dentistry, RK1-715, Surgery, RD1-811

File Description: electronic resource

Relation: http://www.jclpca.org/article.asp?issn=2348-2125;year=2022;volume=9;issue=2;spage=163;epage=169;aulast=Kharbanda; https://doaj.org/toc/2348-2125; https://doaj.org/toc/2348-3644

Access URL: https://doaj.org/article/b42e21c8e83e466e98b80719c8489102

P185: Phenotypic and genotypic spectrum of arthrogryposis multiplex congenita using next generation sequencing: Experience from a tertiary care center in India

Authors: Mounika Endrakanti, Jyoti Sharma, Mehar Chand Sharma, Abdul S. Ethayathulla, Punit Kaur, Shah Alam Khan, Madhulika Kabra

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100214- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002145; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/79469ef0c3e54818bf2eaf9190acd15f

Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination

Authors: Avnish K. Chauhan, P. Sarat Chandra, Nishant Goyal, Madhumita R. Chowdhury, Jyotirmoy Banerjee, Manjari Tripathi, Madhulika Kabra

Source: Neurospine, Vol 17, Iss 4, Pp 843-856 (2020)

Subject Terms: craniovertebral junction anomalies, atlantoaxial dislocation, basilar invagination, fibrillin1 gene, marfan syndrome, joint morphology, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.e-neurospine.org/upload/pdf/ns-2040434-217.pdf; https://doaj.org/toc/2586-6583; https://doaj.org/toc/2586-6591

Access URL: https://doaj.org/article/5d4a073a573c42d3bd752d6dc39bb846

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

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

Source: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)

Subject Terms: chronic renal failure, Fabry disease, GLA mutation, hypertrophic cardiomyopathy, late onset, stroke, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/1fc4e82c88a64b728007b9797e36a37d

Spine radiograph in dysplasias: A pictorial essay

Authors: Pavan Gabra, Manisha Jana, Priyanka Naranje, Neerja Gupta, Madhulika Kabra, Arun K Gupta, Richa Yadav

Source: Indian Journal of Radiology and Imaging, Vol 30, Iss 04, Pp 436-447 (2020)

Subject Terms: achondroplasia, mucopolysaccharidosis, radiograph, skeletal dysplasia, spine, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: https://doaj.org/toc/0971-3026; https://doaj.org/toc/1998-3808

Access URL: https://doaj.org/article/9f7ec985f7cf4fbbb07e54c824882e23

Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide

Authors: Philip E. Stuart, Lam C. Tsoi, Rajan P. Nair, Manju Ghosh, Madhulika Kabra, Pakeeza A. Shaiq, Ghazala K. Raja, Raheel Qamar, B.K. Thelma, Matthew T. Patrick, Anita Parihar, Sonam Singh, Sujay Khandpur, Uma Kumar, Michael Wittig, Frauke Degenhardt, Trilokraj Tejasvi, John J. Voorhees, Stephan Weidinger, Andre Franke, Goncalo R. Abecasis, Vinod K. Sharma, James T. Elder

Source: HGG Advances, Vol 3, Iss 1, Pp 100069- (2022)

Subject Terms: genome-wide association study, major histocompatibility complex, human leukocyte antigens, imputation, psoriasis, skin diseases, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000506; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/5428a1ebeaa24b259fb5e47d9912fd38

Natural history of non-lethal Raine syndrome during childhood

Authors: Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

Subject Terms: Raine syndrome, Children, Rickets, Osteosclerosis, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01373-0; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/31e8b21d16564a75b2b20ef07336fb0c

Decoding of novel missense TSC2 gene variants using in-silico methods

Authors: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury

Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

Subject Terms: Tuberous sclerosis complex (TSC), Multiplex ligation dependent probe amplification (MLPA), Central nervous system (CNS), GAP (GTPase-activating protein), HGMD (human gene mutation database), Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0891-y; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/5ebd69bf72a54b7ba23669d521fdf941

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

Authors: Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth

Source: BMC Neurology, Vol 18, Iss 1, Pp 1-11 (2018)

Subject Terms: PPT1, TPP1, Batten disease, Neuronal ceroid lipofuscinoses (NCL), Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-018-1206-1; https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/39d0aef7f282426a9dfba22c88c24b55

Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Authors: Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, Gomathy Sethuraman

Source: Acta Dermato-Venereologica, Vol 98, Iss 9, Pp 873-879 (2018)

Subject Terms: dystrophicEB, collagenVII, wholeexomesequencing, Dermatology, RL1-803

File Description: electronic resource

Relation: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2929; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

Access URL: https://doaj.org/article/5d32a915b0de4edd84b8d756cdba9255

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Authors: Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra

Source: BMC Pediatrics, Vol 18, Iss 1, Pp 1-7 (2018)

Subject Terms: Congenital hypomyelinating leukodystrophy, 4H syndrome, POLR3A gene, Hypodontia, Hypogonadotropic hypogonadism, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-018-1108-9; https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/62dcd8c9f5f74f359d90b9b13bb88b11

Pelvic radiograph in skeletal dysplasias: An approach

Authors: Manisha Jana, Nikhil Nair, Arun K Gupta, Madhulika Kabra, Neerja Gupta

Source: Indian Journal of Radiology and Imaging, Vol 27, Iss 02, Pp 187-199 (2017)

Subject Terms: achondroplasia, pelvic radiograph, skeletal dysplasia, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: https://doaj.org/toc/0971-3026; https://doaj.org/toc/1998-3808

Access URL: https://doaj.org/article/4abe5163cdcd4401a5f98fd2aa795ad1

Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

Authors: Anushree Mishra, Saranya Devi, Rohit Saxena, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury

Source: Indian Journal of Ophthalmology, Vol 65, Iss 11, Pp 1156-1160 (2017)

Subject Terms: Homoplasmy, Leber's hereditary optic neuropathy, mitochondrial DNA, optic atrophy, primary mutation, Ophthalmology, RE1-994

File Description: electronic resource

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2017;volume=65;issue=11;spage=1156;epage=1160;aulast=Mishra; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

Access URL: https://doaj.org/article/d718c11fff6c41a4b5ffbabbe5bfe69b

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

Authors: Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra

Source: Annals of Indian Academy of Neurology, Vol 19, Iss 3, Pp 332-338 (2016)

Subject Terms: Clinico-radiological, cystic, genetic counselling, demyelination, hypomyelination, leukodystrophy, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=3;spage=332;epage=338;aulast=Gulati; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

Access URL: https://doaj.org/article/08eab9b7d4e54ddf8f533b987c0ce286

Does Diet Offset the Effect of Veiling on Bone Mineral Density of premenopausal Indian women

Authors: Seema Kapoor, Sangeeta Gupta, Marwaha, Mani Kalavani, Madhulika Kabra, Sanjeev Pandey, Sunil Kumar Polipalli

Source: MAMC Journal of Medical Sciences, Vol 1, Iss 1, Pp 12-15 (2015)

Subject Terms: Veiling, BMD, Premenopausal, Medicine

File Description: electronic resource

Relation: http://www.mamcjms.in/article.asp?issn=2394-7438;year=2015;volume=1;issue=1;spage=12;epage=15;aulast=Kapoor; https://doaj.org/toc/2394-7438

Access URL: https://doaj.org/article/8a7eaa4a137d49f18fddebc9d0ebf21f

Evaluation of Semen Oxidative Stress and Sperm DNA Damage in Cases of Unexplained Foetal Congenital Anomalies- A Pilot Study

Authors: Japleen Kaur, Dipika Deka, Rima Dada, Perumal Vanamail, Vatsla Dadhwal, Neena Malhotra, Madhulika Kabra

Source: Journal of Clinical and Diagnostic Research, Vol 11, Iss 11, Pp QC01-QC04 (2017)

Subject Terms: antioxidants, congenital malformation, dna fragmentation, reactive oxygen species, spermatozoa, Medicine

File Description: electronic resource

Relation: https://jcdr.net/articles/PDF/10830/24714-CE(RA1)_F(GG)_PF1(PT_AA_AP)_PFA(MJ_SS).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

Access URL: https://doaj.org/article/72b0026ccc5f42f480d22c5c01697a51