Search Results - "HEGDE, R. M"

Highly conservative phlebotomy in adult intensive Care : A prospective randomized controlled trial by HARBER, C. R, SOSNOWSKI, K. J, HEGDE, R. M

“…Anaemia in critically ill patients is common and phlebotomy associated blood loss may contribute towards this anaemia. The aims of this study were twofold…”
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen by Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M, Christiansen, Helena E, Hegde, Madhuri R, Bank, Ruud A, Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M, Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D, Steiner, Robert D, Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V Reid, Davis, Elaine C, Kim, Lammy S, Weis, Mary Ann, Eyre, David, Byers, Peter H

“…Although biallelic mutations in non-collagen genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has…”
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Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification by Hegde, Madhuri R, Chong, Belinda, Fawkner, Matthew, Lambiris, Nikolas, Peters, Hartmut, Kenneson, Aileen, Warren, Stephen T, Love, Donald R, McGaughran, Julie

“…Repeats in this class are meiotically unstable and can expand to a full mutation. 4 The premutation class encompasses the "grey area" of 45-55 CGG repeats for…”
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Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease by Chin, Ephrem, Bean, L, Coffee, B, Hegde, M R

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The effect of different bypass flow rates and low-dose dopamine on gut mucosal perfusion and outcome in cardiac surgical patients by SCHNEIDER, M, VALENTINE, S, HEGDE, R. M, PEACOCK, J, MARCH, S, DOBB, G. J

“…The aim of this double-blind, randomized, placebo-controlled trial was to investigate the effects of different cardiopulmonary bypass flow rates and low-dose…”
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 by Richards, C. Sue, Bale, Sherri, Bellissimo, Daniel B., Das, Soma, Grody, Wayne W., Hegde, Madhuri R., Lyon, Elaine, Ward, Brian E.

“…ACMG previously developed recommendations for standards for interpretation of sequence variations. We now present the updated revised recommendations. Here, we…”
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Exploring concordance and discordance for return of incidental findings from clinical sequencing by Green, Robert C., Berg, Jonathan S., Berry, Gerard T., Biesecker, Leslie G., Dimmock, David P., Evans, James P., Grody, Wayne W., Hegde, Madhuri R., Kalia, Sarah, Korf, Bruce R., Krantz, Ian, McGuire, Amy L., Miller, David T., Murray, Michael F., Nussbaum, Robert L., Plon, Sharon E., Rehm, Heidi L., Jacob, Howard J.

“…Purpose: The aim of this study was to explore specific conditions and types of genetic variants that specialists in genetics recommend should be returned as…”
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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation by Jones, Melanie A, Bhide, Shruti, Chin, Ephrem, Ng, Bobby G, Rhodenizer, Devin, Zhang, Victor W, Sun, Jessica J, Tanner, Alice, Freeze, Hudson H, Hegde, Madhuri R

“…Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked…”
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Group Delay Based Methods for Speaker Segregation and its Application in Multimedia Information Retrieval by Nathwani, K., Pandit, P., Hegde, R. M.

“…A novel method of single channel speaker segregation using the group delay cross correlation function is proposed in this paper. The group delay function,…”
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Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards by Williams, LC, Hedge, MR, Herrera, G, Stapleton, PM, Love, DR

“…Huntington disease (HD) belongs to the group of neurodegenerative disorders characterized by unstable expanded trinucleotide repeats. In the case of HD, the…”
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Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy by Hegde, M R, Chong, B, Stevenson, C, Laing, N G, Khadilkar, S, Love, D R

“…Distal upper limb spinal muscular atrophy (SMA) is an uncommon segmental variant of SMA. The condition is usually sporadic, affects males more often than…”
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Joint adaptive beamforming and echo cancellation using a non reference anchor array framework by Nathwani, K., Hegde, R. M.

“…In this paper, a method to combine adaptive beamforming microphone arrays with acoustic echo cancellation is proposed. A non reference array framework is used…”
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High-flow nasal oxygen availability for sedation decreases the use of general anesthesia during endoscopic retrograde cholangiopancreatography and endoscopic ultrasound by Schumann, Roman, Natov, Nikola S, Rocuts-Martinez, Klifford A, Finkelman, Matthew D, Phan, Tom V, Hegde, Sanjay R, Knapp, Robert M

“…AIM To examine whether high-flow nasal oxygen(HFNO) availability influences the use of general anesthesia(GA) in patients undergoing endoscopic retrograde…”
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MUSIC-group delay based methods for robust DOA estimation using shrinkage estimators by Kumar, L., Mandala, R., Hegde, R. M.

“…TheMUSIC-group delay spectrum has been hitherto used for high resolution direction of arrival estimation using a limited number of sensors. In this work we…”
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On the Design and Prototype Implementation of a Multimodal Situation Aware System by Hegde, R.M., Kurniawan, J., Rao, B.D.

“…In this paper we describe the design concepts and prototype implementation of a situation aware ubiquitous computing system using multiple modalities such as…”
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Migrant Workers in Udupi Taluk by M. P. Subramanian, M. R. Hegde

“…The increasing labour migration to Udupi taluk needs to be understood and a long-term strategy evolved to deal with problems it poses…”
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A Homozygous Mutation in MSH6 Causes Turcot Syndrome by HEGDE, Madhuri R, CHONG, Belinda, BLAZO, Maria E, CHIN, Lip Hon E, WARD, Patricia A, CHINTAGUMPALA, Murali M, KIM, John Y, PLAN, Sharon E, RICHARDS, C. Sue

“…Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary nonpolyposis colorectal cancer (MIM114500). Turcot syndrome (MIM276300) has…”
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Compound heterozygosity at the FMR1 gene by Hegde, M R, Fawkner, M, Chong, B, McGaughran, J, Gilbert, D, Love, D R

“…Individuals affected with Fragile X syndrome are usually characterized at the DNA level by the presence of at least 200 CGG repeats in the 5' untranslated…”
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Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability by Williams, L C, Hegde, M R, Nagappan, R, Faull, R L, Giles, J, Winship, I, Snow, K, Love, D R

“…PCR amplification of the CAG repeat in exon 1 of the IT15 gene is routinely undertaken to confirm a clinical diagnosis of Huntington disease (HD) and to…”
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Double-balloon enteroscopy in the elderly: safety, findings, and diagnostic and therapeutic success by Hegde, Sanjay R., MD, Iffrig, Kevan, BS, Li, Tianyu, MS, Downey, Sharon, BSN, Heller, Stephen J., MD, Tokar, Jeffrey L., MD, Haluszka, Oleh, MD

“…Background Double-balloon enteroscopy (DBE) is an important tool in the evaluation and management of small-bowel disease. Limited data are available on the…”
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