Search Results - "Ekbote, Alka"

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care by Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.

“…Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It…”
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Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review by Patil, Virendra A., Lila, Anurag Ranjan, Shah, Nalini, Arya, Sneha, Ekbote, Alka V., Sarathi, Vijaya, Shah, Ravikumar, Jadhav, Swati S., Memon, Saba Samad, Bandgar, Tushar

“…Purpose To describe phenotype-genotype data of Asian-Indian normosmic congenital hypogonadotropic hypogonadism (nCHH) from our centre and perform a systematic…”
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Expanding the phenome and variome of skeletal dysplasia by Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

“…To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized…”
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A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: Review of literature in comparison with Juvenile Idiopathic Arthritis by Ekbote, Alka V., MD, Danda, Debashish, MD, DM, FRCP, Kumar, Sathish, MD, Danda, Sumita, MD, DM, Madhuri, Vrisha, MS, MCH, Gibikote, Sridhar, MD

“…Background Progressive-psuedorheumatoid-arthropathy of childhood (PPAC) is an autosomal recessive single gene skeletal dysplasia involving joints. The gene…”
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Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy by Bhavani, Gandham SriLakshmi, Shah, Hitesh, Shukla, Anju, Gupta, Neerja, Gowrishankar, Kalpana, Rao, Anand P., Kabra, Madhulika, Agarwal, Meenal, Ranganath, Prajnya, Ekbote, Alka V., Phadke, Shubha R., Kamath, Asha, Dalal, Ashwin, Girisha, Katta Mohan

“…​Multicentric osteolysis nodulosis and arthropathy (MONA) is an infrequently described autosomal recessive skeletal dysplasia characterized by progressive…”
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Isoleucine deficiency in a neonate treated for maple syrup urine disease masquerading as acrodermatitis enteropathica by Ross, Benjamin, Kumar, Manish, Srinivasan, Hema, Ekbote, Alka V.

“…Background Special diet with restricted branched-chain-amino-acids used for treating maple syrup urine disease can lead to specific amino acid deficiencies…”
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Recurrent and novel GLB1 mutations in India by 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, Divya, Ekbote, Alka V., Puri, Ratna Dua, Phadke, Shubha R., Gowrishankar, Kalpana, Aggarwal, Shagun, Ranganath, Prajnya, Sharda, Sheetal, Kamate, Mahesh, Datar, Chaitanya A., Bhat, Kamalakshi, Kamath, Nutan, Shah, Hitesh, Krishna, Shuba, Gopinath, Puthiya Mundyat, Verma, Ishwar C., Nagarajaram, H.A., Satyamoorthy, Kapaettu, Girisha, Katta Mohan

“…GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme β-d-galactosidase. In this…”
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Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature by Ekbote, Alka V, Danda, Sumita, Zankl, Andreas, Mandal, Kausik, Maguire, Tina, Ungerer, Kobus

“…Torg and Winchester syndromes and patients reported by Al-AqeelSawairi as well as nodulosis-arthropathy-osteolysis (NAO) patients, patients with multicentric…”
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Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism by Muthusamy, Karthik, Ekbote, Alka, Thomas, Maya, Aaron, Sanjith, Mathew, Vivek, Patil, Anil, Sivadasan, Ajith, Prabhakar, A, Yoganathan, Sangeetha, Alexander, Mathew

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De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities by Dutta, Atanu K, Ekbote, Alka V, Thomas, Niranjan, Omprakash, Sabitha, Danda, Sumita

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A Case Report of Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly (FATCO) Syndrome Associated With Klinefelter Syndrome and Review of the Literature by Ekbote, Alka V., Danda, Sumita

“…Limb development is a complex regulated development phenomenon involving multiple genes. Fibular Aplasia, Tibial Campomelia and Oligosyndactyly (FATCO)…”
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MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder by Ekbote, Alka V, Kamath, Mohan S, Danda, Sumita

“…We are reporting a female patient with a MURCS association (Müllerian duct aplasia, unilateral renal agenesis, cervico-thoracic somite fusion defects), situs…”
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Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia by Singh, Swati, Danda, Sumita, Sharma, Neetu, Shah, Hitesh, Madhuri, Vrisha, Mir, Tariq Altaf, Padala, Nadia Zipporah, Medishetti, Raghavender, Ekbote, Alka, Bhavani, Gandham SriLakshmi, Sevilimedu, Aarti, Girisha, Katta M.

“…Abstract Kyphomelic dysplasia is a rare heterogenous group of skeletal dysplasia, characterized by bowing of the limbs, severely affecting femora with distinct…”
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Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians by Nair, Sandhya, Jadhav, Swati, Lila, Anurag, Jagtap, Varsha, Bukan, Amol, Pandit, Reshma, Ekbote, Alka, Dharmalingam, Mala, Kumar, Prasanna, Kalra, Pramila, Gandhi, Pramod, Walia, Rama, Sankhe, Shilpa, Raghavan, Vijaya, Shivane, Vyankatesh, Menon, Padma, Bandgar, Tushar, Shah, Nalini

“…Summary Background Congenital isolated hypogonadotropic hypogonadism (IHH) is caused due to defect in GnRH neuronal development, migration and action. Although…”
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Novel mutations in the LRP5 gene in patients with Osteoporosis‐pseudoglioma syndrome 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

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Fanconi- Bickel Syndrome: Mutation in An Indian Patient by Ekbote, Alka Venkatesh, Mandal, Kausik, Agarwal, Indira, Sinha, Rajiv, Danda, Sumita

“…Fanconi -Bickel Syndrome (FBS) is described as an autosomal recessive Glycogen Storage Disorder type XI. The underlying enzyme defect is unknown. The gene…”
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Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature by Korula, Sophy, Ekbote, Alka, Kumar, Naresh, Danda, Sumita, Agarwal, Indira, Chaturvedi, Swasti

“…ObjectiveThe objective of this study was to describe the renal manifestations in children 0–18 years of age diagnosed with tuberous sclerosis complex (TSC) at…”
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P53 A descriptive analysis of 16 cases of progressive psuedorheumatoid arthritis of childhood and radiological comparison with juvenile idiopathic arthritis by Ekbote, Alka V, Danda, Debashish, Sathish, K, Gibikote, Sridhar, Danda, Sumita

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MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder by Ekbote, Alka V, Kamath, Mohan S, Danda, Sumita

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