Search Results - "Reading, N. Scott" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders

Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders

by Tashi, Tsewang, Scott Reading, N., Wuren, Tanna, Zhang, Xu, Moore, Lorna G., Hu, Hao, Tang, Feng, Shestakova, Anna, Lorenzo, Felipe, Burjanivova, Tatiana, Koul, Parvaiz, Guchhait, Prasenjit, Wittwer, Carl T., Julian, Colleen G., Shah, Binal, Huff, Chad D., Gordeuk, Victor R., Prchal, Josef T., Ge, RiLi
Published in Journal of molecular medicine (Berlin, Germany) (01.06.2017)

Get full text

Journal Article

Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats

Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats

by Jaffey, Jared A., Reading, N. Scott, Giger, Urs, Abdulmalik, Osheiza, Buckley, Ruben M., Johnstone, Sophie, Lyons, Leslie A.
Published in Journal of veterinary internal medicine (01.11.2019)

Get full text

Journal Article

Evolutionary selected Tibetan variants of HIF pathway and risk of lung cancer

Evolutionary selected Tibetan variants of HIF pathway and risk of lung cancer

by Lanikova, Lucie, Reading, N Scott, Hu, Hao, Tashi, Tsewang, Burjanivova, Tatiana, Shestakova, Anna, Siwakoti, Bhola, Thakur, Binay Kumar, Pun, Chin Bahadur, Sapkota, Amir, Abdelaziz, Sarah, Feng, Bing-Jian, Huff, Chad D, Hashibe, Mia, Prchal, Josef T
Published in Oncotarget (14.02.2017)

Get full text

Journal Article

Angiogenic and inflammatory markers of cardiopulmonary changes in children and adolescents with sickle cell disease

Angiogenic and inflammatory markers of cardiopulmonary changes in children and adolescents with sickle cell disease

by Niu, Xiaomei, Nouraie, Mehdi, Campbell, Andrew, Rana, Sohail, Minniti, Caterina P, Sable, Craig, Darbari, Deepika, Dham, Niti, Reading, N Scott, Prchal, Josef T, Kato, Gregory J, Gladwin, Mark T, Castro, Oswaldo L, Gordeuk, Victor R
Published in PloS one (23.11.2009)

Get full text

Journal Article

Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes

Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes

by Sirdah, Mahmoud M., Reading, N. Scott
Published in Clinical genetics (01.12.2020)

Get full text

Journal Article

A novel approach to quantitating leukemia fusion transcripts by qRT-PCR without the need for standard curves

A novel approach to quantitating leukemia fusion transcripts by qRT-PCR without the need for standard curves

by Schumacher, Jonathan A., Scott Reading, N., Szankasi, Philippe, Matynia, Anna P., Kelley, Todd W.
Published in Experimental and molecular pathology (01.08.2015)

Get full text

Journal Article

Concordance of assays designed for the quantification of JAK2V617F: a multicenter study

Concordance of assays designed for the quantification of JAK2V617F: a multicenter study

by Lippert, Eric, Girodon, Francois, Hammond, Emma, Jelinek, Jaroslav, Reading, N. Scott, Fehse, Boris, Hanlon, Katy, Hermans, Mirjam, Richard, Celine, Swierczek, Sabina, Ugo, Valerie, Carillo, Serge, Harrivel, Veronique, Marzac, Christophe, Pietra, Daniela, Sobas, Marta, Mounier, Morgane, Migeon, Marina, Ellard, Sian, Kroger, Nicolaus, Herrmann, Richard, Prchal, Josef T, Skoda, Radek C, Hermouet, Sylvie
Published in Haematologica (Roma) (01.01.2009)

Get full text

Journal Article

A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations

A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations

by Jama, Mohamed A., Reading, N. Scott, Fredrickson, Eric, Shaaban, Sherin, Ji, Yuan
Published in The Journal of molecular diagnostics : JMD (01.12.2024)

Get full text

Journal Article

A computational study of structural differences of binding of NADP+ and G6P substrates to G6PD Mediterraneanc.563T, G6PD A−c.202A/c.376G, G6PD Cairoc.404C and G6PD Gazac.536A mutations

A computational study of structural differences of binding of NADP+ and G6P substrates to G6PD Mediterraneanc.563T, G6PD A−c.202A/c.376G, G6PD Cairoc.404C and G6PD Gazac.536A mutations

by Sirdah, Mahmoud, Reading, N. Scott, Vankayalapati, Hariprasad, Prchal, Josef T.
Published in Blood cells, molecules, & diseases (01.07.2021)

Get full text

Journal Article

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia

by Jama, Mohamed, Margraf, Rebecca L., Yu, Ping, Reading, N. Scott, Bayrak-Toydemir, Pinar
Published in The Journal of molecular diagnostics : JMD (01.08.2022)

Get full text

Journal Article

Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience

Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience

by Agarwal, Archana M., McMurty, Valarie, Clayton, Adam L., Bolia, Ashini, Reading, N. Scott, Mani, Coumarane, Patel, Jay L., Rets, Anton
Published in European journal of haematology (01.06.2023)

Get full text

Journal Article

Novel, de novo, beta‐globin variant with decreased oxygen affinity (HBB:c.317T>A, “Hemoglobin St. George”) in a healthy child with low oxygen saturations and anemia

Novel, de novo, beta‐globin variant with decreased oxygen affinity (HBB:c.317T>A, “Hemoglobin St. George”) in a healthy child with low oxygen saturations and anemia

by Meznarich, Jessica A., Rets, Anton, Agarwal, Archana M., Christensen, Robert D., Reading, N. Scott, Kuypers, Frans A., Prchal, Josef T.
Published in American journal of hematology (01.12.2021)

Get full text

Journal Article

"What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras"

"What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras"

by Amaru, Ricardo, Song, Jihyun, Reading, N Scott, Gordeuk, Victor R, Prchal, Josef T
Published in Genes (03.03.2023)

Get full text

Journal Article

Novel mechanism of hereditary pyropoikilocytosis phenotype due to co‐inheritance of β globin and α spectrin mutations

Novel mechanism of hereditary pyropoikilocytosis phenotype due to co‐inheritance of β globin and α spectrin mutations

by Kim, Soo Jin, Song, Jihyun, Reading, N. Scott, Lautersztain, Julio, Kutlar, Abdullah, Agarwal, Archana M., Coetzer, Theresa L., Prchal, Josef T.
Published in American journal of hematology (01.05.2021)

Get full text

Journal Article

Expression of the Rho‐family GTPase gene RHOF in lymphocyte subsets and malignant lymphomas

Expression of the Rho‐family GTPase gene RHOF in lymphocyte subsets and malignant lymphomas

by Gouw, Launce G., Scott Reading, N., Jenson, Stephen D., Lim, Megan S., Elenitoba‐Johnson, Kojo S. J.
Published in British journal of haematology (01.05.2005)

Get full text

Journal Article

Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele

Missense mutation of the last nucleotide of exon 1 (G->C) of β globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele

by AGARWAL, Neeraj, KUTLAR, Ferdane, MOJICA-HENSHAW, Mariluz P, OU, Ching N, GAIKWAD, Amos, READING, N. Scott, BAILEY, Lakeia, KUTLAR, Abdullah, PRCHAL, Josef T
Published in Haematologica (Roma) (01.12.2007)

Get full text

Journal Article

Oral Methylene Blue Treatment in A Dog with Cytochrome B 5 Reductase Deficiency And 78, XX Testicular Disorder of Sex Development

Oral Methylene Blue Treatment in A Dog with Cytochrome B 5 Reductase Deficiency And 78, XX Testicular Disorder of Sex Development

by Jaffey, Jared A, Struthers, Jason D, Yuh, Eunice L, Hostnik, Eric T, Runyan, Robert A, Reading, N Scott
Published in Topics in companion animal medicine (01.07.2022)

Get full text

Journal Article

A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

by Bahr, Timothy M, Lozano-Chinga, Michell, Agarwal, Archana M, Meznarich, Jessica A, Yost, Christian C, Li, Peng, Reading, N Scott, Prchal, Josef T, Christensen, Robert D
Published in Neonatology (Basel, Switzerland) (01.12.2020)

Get more information

Journal Article

Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b 5 reductase deficiency in cats

Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b 5 reductase deficiency in cats

by Jaffey, Jared A, Reading, N Scott, Giger, Urs, Abdulmalik, Osheiza, Buckley, Ruben M, Johnstone, Sophie, Lyons, Leslie A
Published in Journal of veterinary internal medicine (01.11.2019)

Get full text

Journal Article

Unexplained extreme hyperbilirubinemia among neonates in a multihospital healthcare system

Unexplained extreme hyperbilirubinemia among neonates in a multihospital healthcare system

by Christensen, Robert D., Lambert, Diane K., Henry, Erick, Eggert, Larry D., Yaish, Hassan M., Reading, N. Scott, Prchal, Josef T.
Published in Blood cells, molecules, & diseases (01.02.2013)

Get full text

Journal Article