Search Results - "Terance, Antony"

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India by Aluri, Jahnavi, Desai, Mukesh, Gupta, Maya, Dalvi, Aparna, Terance, Antony, Rosenzweig, Sergio D, Stoddard, Jennifer L, Niemela, Julie E, Tamankar, Vasundhara, Mhatre, Snehal, Bargir, Umair, Kulkarni, Manasi, Shah, Nitin, Aggarwal, Amita, Lashkari, Harsha Prasada, Krishna, Vidya, Govindaraj, Geeta, Kalra, Manas, Madkaikar, Manisha

“…Severe combined immunodeficiency (SCID) represents one of the most severe forms of primary immunodeficiency (PID) disorders characterized by impaired cellular…”
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Primary ciliary dyskinesia due to DRC1/CCDC164 gene mutation by Benjamin, Antony, Ganesh, Ram, Chinnappa, Jagdish, Kinimi, Ilin, Lucas, Jane

“…[1] The common manifestations in children include neonatal respiratory distress, early-onset chronic wet cough, and recurrent respiratory infections, leading…”
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High-speed video microscopy in a teenage boy with chronic wet cough by Benjamin, Antony Terance, Ganesh, Ram

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High-speed video microscopy in a teenage boy with chronic wet cough by Benjamin, Antony, Ganesh, Ram

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype by Toubiana, Julie, Okada, Satoshi, Hiller, Julia, Oleastro, Matias, Lagos Gomez, Macarena, Aldave Becerra, Juan Carlos, Ouachée-Chardin, Marie, Fouyssac, Fanny, Girisha, Katta Mohan, Etzioni, Amos, Van Montfrans, Joris, Camcioglu, Yildiz, Kerns, Leigh Ann, Belohradsky, Bernd, Blanche, Stéphane, Bousfiha, Aziz, Rodriguez-Gallego, Carlos, Meyts, Isabelle, Kisand, Kai, Reichenbach, Janine, Renner, Ellen D., Rosenzweig, Sergio, Grimbacher, Bodo, van de Veerdonk, Frank L., Traidl-Hoffmann, Claudia, Picard, Capucine, Marodi, Laszlo, Morio, Tomohiro, Kobayashi, Masao, Lilic, Desa, Milner, Joshua D., Holland, Steven, Casanova, Jean-Laurent, Puel, Anne

“…Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF)…”
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Early dimercaptosuccinic acid renal scan in children with first febrile urinary tract infection by Umamageswari, K., Terance, B. Antony, Anirudhan, N.

“…Objectives To determine use of early Tc-99m dimercaptosuccinic acid scintigraphy in screening for vesicoureteral reflux following first febrile urinary tract…”
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Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families by Varkki, Sneha, Benjamin, Antony Terance, Athiyarath, Rekha, Danda, Sumita, Sowmya, Ravikumar, Connett, Gary

“…•Homozygous loss of function GUCY2C mutations are an important cause of non-cystic fibrosis meconium ileus.•Exome sequencing for GUCY2C gene variants should be…”
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Rare Presentation of Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease in Four Children by Venkatachalam, Vinothini, Palaniappan, Ayyammal, Ramalingam, Ramakrishanan Tirupur Chinnappan, Gopalakrishnan, Srimathi, Benjamin, Antony Terance, Maheswaran, Anupama

“…Abstract Background: Myelin oligodendrocyte glycoprotein antibody associated disease (MOG-AD) is an inflammatory disorder of the central nervous system,…”
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A study on aetiology and outcomes of viral lower respiratory tract infections in hospitalized children from South India by Abinaya, Srinivasan, Gaspar, Balan Louis, Benjamin, Antony Terance

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A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951) in Primary Ciliary Dyskinesia by Benjamin, Antony Terance, Ganesh, Ram, Gaspar, Balan Louis, Lucas, Jane, Jackson, Claire, Legendre, Marie, Mani, Rahma, Escudier, Estelle

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A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951) in Primary Ciliary Dyskinesia by Benjamin, Antony Terance, Ganesh, Ram, Gaspar, Balan Louis, Lucas, Jane, Jackson, Claire, Legendre, Marie, Mani, Rahma, Escudier, Estelle

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