Search Results - "Kini Usha"

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics by Bayat, Allan, Knaus, Alexej, Juul, Annika Wollenberg, Dukic, Dejan, Gardella, Elena, Charzewska, Agnieszka, Clement, Emma, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Horn, Denise, Horton, Rachel, Hurst, Jane A., Josifova, Dragana, Larsen, Line H. G., Lascelles, Karine, Obersztyn, Ewa, Pagnamenta, Alistair, Pal, Deb K., Pendziwiat, Manuela, Ryten, Mina, Taylor, Jenny, Vogt, Julie, Weber, Yvonne, Krawitz, Peter M., Helbig, Ingo, Kini, Usha, Møller, Rikke S.

“…Purpose To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype–phenotype correlation, and to investigate…”
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Long-term outcomes in children with Hirschsprung’s disease and transition zone bowel pull-through: impact of surgical techniques and role for conservative approach by Shankar, Gowri, Deepak, J. G., Jadhav, Vinay, Venkatesh, K., Kini, Usha, Ramesh, S.

“…Purpose Presence of transition zone (TZ) in the pulled colon can impact the outcome of surgery in children with Hirschsprung’s disease. There is a wide…”
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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders by Pagnamenta, Alistair T, Murakami, Yoshiko, Taylor, John M, Anzilotti, Consuelo, Howard, Malcolm F, Miller, Venessa, Johnson, Diana S, Tadros, Shereen, Mansour, Sahar, Temple, I Karen, Firth, Rachel, Rosser, Elisabeth, Harrison, Rachel E, Kerr, Bronwen, Popitsch, Niko, Kinoshita, Taroh, Taylor, Jenny C, Kini, Usha

“…Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of…”
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The clinical presentation caused by truncating CHD8 variants by Douzgou, Sofia, Liang, Hui Wen, Metcalfe, Kay, Somarathi, Suresh, Tischkowitz, Marc, Mohamed, Wafik, Kini, Usha, McKee, Shane, Yates, Laura, Bertoli, Marta, Lynch, Sally Ann, Holder, Susan, Banka, Siddharth

“…Variants in the chromodomain helicase DNA‐binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASDs) and…”
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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes by Ragge, Nicola, Isidor, Bertrand, Bitoun, Pierre, Odent, Sylvie, Giurgea, Irina, Cogné, Benjamin, Deb, Wallid, Vincent, Marie, Le Gall, Jessica, Morton, Jenny, Lim, Derek, Le Meur, Guylène, Zazo Seco, Celia, Zafeiropoulou, Dimitra, Bax, Dorine, Zwijnenburg, Petra, Arteche, Anara, Swafiri, Saoud Tahsin, Cleaver, Ruth, McEntagart, Meriel, Kini, Usha, Newman, William, Ayuso, Carmen, Corton, Marta, Herenger, Yvan, Jeanne, Médéric, Calvas, Patrick, Chassaing, Nicolas

“…Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects…”
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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome by Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen

“…Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic…”
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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature by Au, P Y Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K, Graham, Gail E, Galarreta, Carolina, Jones, Marilyn C, Kini, Usha, Stewart, Helen, Parboosingh, Jillian S, Kline, Antonie D, Innes, A Micheil

“…Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been…”
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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients by Ostrowski, Philip J., Zachariou, Anna, Loveday, Chey, Beleza‐Meireles, Ana, Bertoli, Marta, Dean, John, Douglas, Andrew G. L., Ellis, Ian, Foster, Alison, Graham, John M., Hague, Jennifer, Hilhorst‐Hofstee, Yvonne, Hoffer, Mariette, Johnson, Diana, Josifova, Dragana, Kant, Sarina G., Kini, Usha, Lachlan, Katherine, Lam, Wayne, Lees, Melissa, Lynch, Sally, Maitz, Silvia, McKee, Shane, Metcalfe, Kay, Nathanson, Katherine, Ockeloen, Charlotte W., Parker, Michael J., Pierson, Tyler M., Rahikkala, Elisa, Sanchez‐Lara, Pedro A., Spano, Alice, Van Maldergem, Lionel, Cole, Trevor, Douzgou, Sofia, Tatton‐Brown, Katrina

“…CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth…”
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene by CONTI, Valerio, CARABALONA, Aurelie, WATRIN, Françoise, LISE, Stefano, PAGNAMENTA, Alistair T, TAYLOR, Jenny C, KINI, Usha, CLAYTON-SMITH, Jill, NOVARA, Francesca, ZUFFARDI, Orsetta, DOBYNS, William B, SCHEFFER, Ingrid E, PALLESI-POCACHARD, Emilie, ROBERTSON, Stephen P, BERKOVIC, Samuel F, REPRESA, Alfonso, KEAYS, David A, CARDOSO, Carlos, GUERRINI, Renzo, PARRINI, Elena, LEVENTER, Richard J, BUHLER, Emmanuelle, MCGILLIVRAY, George, MICHEL, François J, STRIANO, Pasquale, MEI, Davide

“…Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles…”
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Modified improvised pre-embedding method for core needle biopsies: A clinicopathologic study by Sunny, Nikita, Thomas, Anupa, Manjunath, Suraj, Kini, Usha

“…An optimal core needle biopsy (CNB) is expected to balance between tissue diagnosis, the accuracy of negative sampling, and concordance with reports from…”
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PIGG variant pathogenicity assessment reveals characteristic features within 19 families by Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S., Baranano, Kristin, Ismail, Fatima Y., Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet, Maki, Yuta, Sachdev, Rani, Macintosh, Rebecca, Palmer, Elizabeth E., Mancini, Grazia M.S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias, Wortmann, Saskia B., Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh, Campeau, Philippe M., Murakami, Yoshiko

“…Phosphatidylinositol Glycan Anchor Biosynthesis, class G (PIGG) is an ethanolamine phosphate transferase catalyzing the modification of…”
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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes by Yap, Zheng Yie, Park, Yo Han, Wortmann, Saskia B, Gunning, Adam C, Ezer, Shlomit, Lee, Sukyeong, Duraine, Lita, Wilichowski, Ekkehard, Wilson, Kate, Mayr, Johannes A, Wagner, Matias, Li, Hong, Kini, Usha, Black, Emily Davis, Monaghan, Kristin G, Lupski, James R, Ellard, Sian, Westphal, Dominik S, Harel, Tamar, Yoon, Wan Hee

“…ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including…”
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Ulnar mammary syndrome and TBX3: Expanding the phenotype by Linden, Helen, Williams, Rosy, King, Janet, Blair, Edward, Kini, Usha

“…We present a patient with features of Ulnar Mammary syndrome (UMS) consisting of bilateral ulnar defects, inverted nipples, short stature with associated…”
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Role of anti-phospholipase A2 Receptor antibodies in patients with membranous nephropathy: A prospective study on Indian cohort by Karimkhan, Afreen, Kini, Usha, Shenoy, Pradeep, Satish, Renuka, Puttegowda, Divya

“…Context: A search for a cause for membranous nephropathy (MN) is crucial to determine its treatment and management. Primary MN was a diagnosis of exclusion…”
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FNA unravelling the mystery behind the cheek mass to pivot to a diagnosis of a primary extracranial-extraspinal-meningioma with intracranial component by Murali, Megha, Nanaiah, Ashitha, Arpitha, C, Srinivas, V, Kini, Usha

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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? by Alkindy, Adila, Chuzhanova, Nadia, Kini, Usha, Cooper, David N, Upadhyaya, Meena

“…Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a…”
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Estimation of plasma and RBC acetylcholinesterase in children: An evaluation tool for Hirschsprung's disease? by Kuvelkar, Neha, DSouza, Serena, Vidhyashree, K, Shankar, Gowri, Bukel, Maria, Noronha, Santosh, Kini, Usha

“…Background: Increased acetylcholinesterase (AChE) activity on frozen sections of rectal mucosal biopsies accurately diagnoses Hirschsprung disease (HD). But…”
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Guidelines for various laboratory sections in view of COVID-19: Recommendations from the Indian Association of Pathologists and Microbiologists by Misra, Vatsala, Agrawal, Ranjan, Kumar, Harendra, Kar, Asaranti, Kini, Usha, Poojary, Aruna, Chakrabarti, Indranil, Rai, Sharada, Singhal, Anika, Shankar, S, Iyengar, Jayaram

“…Declared as a pandemic by WHO on March 11, 2020, COVID-19 has brought about a dramatic change in the working of different laboratories across the country…”
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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies by Pagnamenta, Alistair T, Lise, Stefano, Harrison, Victoria, Stewart, Helen, Jayawant, Sandeep, Quaghebeur, Gerardine, Deng, Alexander T, Murphy, Valerie Elizabeth, Sadighi Akha, Elham, Rimmer, Andy, Mathieson, Iain, Knight, Samantha J L, Kini, Usha, Taylor, Jenny C, Keays, David A

“…The development of next generation sequencing (NGS) has radically transformed the scientific landscape, making it possible to sequence the exome of any given…”
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Standardizing initial dilution titers of antinuclear antibodies for the screening of systemic lupus erythematosus by Rao, Joseph, Shobha, Vineeta, Thomas, Tinku, Kini, Usha

“…Background: Systemic Lupus Erythematosus (SLE), a systemic autoimmune disease, is diagnosed by correlating clinical features with a positive Antinuclear…”
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