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Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism.

International journal of pediatric otorhinolaryngology

Iwanicka-Pronicka K, Trubicka J, Szymanska E, Ciara E, Rokicki D, Pollak A, Pronicki M.
PMID: 34775139
Int J Pediatr Otorhinolaryngol. 2021 Dec;151:110970. doi: 10.1016/j.ijporl.2021.110970. Epub 2021 Nov 10.

OBJECTIVE: Glycogen storage disease (GSD) type I is an inborn error of carbohydrates metabolism characterized by inability to convert glucose-6-phosphate to glucose. It presents with serious liver and metabolic complications, as well as in type Ib with severe infections...

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Iwanicka-Pronicka K, Trubicka J, Szymanska E, et al. Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism. Int J Pediatr Otorhinolaryngol. 2021;151:110970doi: 10.1016/j.ijporl.2021.110970.
Iwanicka-Pronicka, K., Trubicka, J., Szymanska, E., Ciara, E., Rokicki, D., Pollak, A., & Pronicki, M. (2021). Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism. International journal of pediatric otorhinolaryngology, 151110970. https://doi.org/10.1016/j.ijporl.2021.110970
Iwanicka-Pronicka, Katarzyna, et al. "Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism." International journal of pediatric otorhinolaryngology vol. 151 (2021): 110970. doi: https://doi.org/10.1016/j.ijporl.2021.110970
Iwanicka-Pronicka K, Trubicka J, Szymanska E, Ciara E, Rokicki D, Pollak A, Pronicki M. Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism. Int J Pediatr Otorhinolaryngol. 2021 Dec;151:110970. doi: 10.1016/j.ijporl.2021.110970. Epub 2021 Nov 10. PMID: 34775139.
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No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.

JIMD reports

Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, Łuczak S, Iwanicka-Pronicka K, Siegmund S, Yang H, Wen Q, Hoang QV, Silverman RH, Kowalski P, Szczypińska O, Czornak K, Zimowski J, Płoski R, Pilch J, Ciara E, Zaremba J, Krajewska-Walasek M, Schon EA, Pronicka E.
PMID: 26427993
JIMD Rep. 2016;27:63-8. doi: 10.1007/8904_2015_468. Epub 2015 Oct 02.

SCO2 mutations cause recessively inherited cytochrome c oxidase deficiency. Recently Tran-Viet et al. proposed that heterozygosity for pathogenic SCO2 variants, including the common E140K variant, causes high-grade myopia. To investigate the association of SCO2 mutations with myopia, ophthalmic examinations...

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Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, et al. No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction. JIMD Rep. 2015;27:63-8doi: 10.1007/8904_2015_468.
Piekutowska-Abramczuk, D., Kocyła-Karczmarewicz, B., Małkowska, M., Łuczak, S., Iwanicka-Pronicka, K., Siegmund, S., Yang, H., Wen, Q., Hoang, Q. V., Silverman, R. H., Kowalski, P., Szczypińska, O., Czornak, K., Zimowski, J., Płoski, R., Pilch, J., Ciara, E., Zaremba, J., Krajewska-Walasek, M., Schon, E. A., & Pronicka, E. (2016). No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction. JIMD reports, 2763-8. https://doi.org/10.1007/8904_2015_468
Piekutowska-Abramczuk, Dorota, et al. "No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction." JIMD reports vol. 27 (2016): 63-8. doi: https://doi.org/10.1007/8904_2015_468
Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, Łuczak S, Iwanicka-Pronicka K, Siegmund S, Yang H, Wen Q, Hoang QV, Silverman RH, Kowalski P, Szczypińska O, Czornak K, Zimowski J, Płoski R, Pilch J, Ciara E, Zaremba J, Krajewska-Walasek M, Schon EA, Pronicka E. No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction. JIMD Rep. 2016;27:63-8. doi: 10.1007/8904_2015_468. Epub 2015 Oct 02. PMID: 26427993; PMCID: PMC4864719.
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Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the .

SpringerPlus

Iwanicka-Pronicka K, Socha M, Jędrzejowska M, Krajewska-Walasek M, Jamsheer A.
PMID: 27722056
Springerplus. 2016 Sep 21;5(1):1638. doi: 10.1186/s40064-016-3275-1. eCollection 2016.

Holt-Oram syndrome (HOS) features radial ray hypoplasia, heart defect and cardiac conduction impairment. Ulnar-mammary syndrome (UMS) characterizes congenital defects of the ulnar side of the upper limbs, underdevelopment of apocrine glands including hypoplasia and the dysfunction of mammary glands,...

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Iwanicka-Pronicka K, Socha M, Jędrzejowska M, et al. Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the . Springerplus. 2016;5(1):1638doi: 10.1186/s40064-016-3275-1.
Iwanicka-Pronicka, K., Socha, M., Jędrzejowska, M., Krajewska-Walasek, M., & Jamsheer, A. (2016). Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the . SpringerPlus, 5(1), 1638. https://doi.org/10.1186/s40064-016-3275-1
Iwanicka-Pronicka, Katarzyna, et al. "Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the ." SpringerPlus vol. 5,1 (2016): 1638. doi: https://doi.org/10.1186/s40064-016-3275-1
Iwanicka-Pronicka K, Socha M, Jędrzejowska M, Krajewska-Walasek M, Jamsheer A. Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the . Springerplus. 2016 Sep 21;5(1):1638. doi: 10.1186/s40064-016-3275-1. eCollection 2016. PMID: 27722056; PMCID: PMC5031565.
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Brain Tissue Low-Level Mosaicism for .

Diagnostics (Basel, Switzerland)

Szczałuba K, Rydzanicz M, Walczak A, Kosińska J, Koppolu A, Biernacka A, Iwanicka-Pronicka K, Grajkowska W, Jurkiewicz E, Kowalczyk P, Płoski R.
PMID: 34359351
Diagnostics (Basel). 2021 Jul 15;11(7). doi: 10.3390/diagnostics11071269.

De novo somatic variants in genes encoding components of the PI3K-AKT3-mTOR pathway, including

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Szczałuba K, Rydzanicz M, Walczak A, et al. Brain Tissue Low-Level Mosaicism for . Diagnostics (Basel). 2021;11(7)doi: 10.3390/diagnostics11071269.
Szczałuba, K., Rydzanicz, M., Walczak, A., Kosińska, J., Koppolu, A., Biernacka, A., Iwanicka-Pronicka, K., Grajkowska, W., Jurkiewicz, E., Kowalczyk, P., & Płoski, R. (2021). Brain Tissue Low-Level Mosaicism for . Diagnostics (Basel, Switzerland), 11(7), . https://doi.org/10.3390/diagnostics11071269
Szczałuba, Krzysztof, et al. "Brain Tissue Low-Level Mosaicism for ." Diagnostics (Basel, Switzerland) vol. 11,7 (2021). doi: https://doi.org/10.3390/diagnostics11071269
Szczałuba K, Rydzanicz M, Walczak A, Kosińska J, Koppolu A, Biernacka A, Iwanicka-Pronicka K, Grajkowska W, Jurkiewicz E, Kowalczyk P, Płoski R. Brain Tissue Low-Level Mosaicism for . Diagnostics (Basel). 2021 Jul 15;11(7). doi: 10.3390/diagnostics11071269. PMID: 34359351; PMCID: PMC8303645.
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analysing...

Cite
Scala M, Wortmann SB, Kaya N, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;doi: 10.1002/humu.24326.
Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T. B., Prokisch, H., Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. �. �., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R., & Houlden, H. (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, . https://doi.org/10.1002/humu.24326
Scala, Marcello, et al. "Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency." Human mutation vol. (2022). doi: https://doi.org/10.1002/humu.24326
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06. PMID: 34989426.
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing...

Cite
Scala M, Wortmann SB, Kaya N, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;doi: 10.1002/humu.24326.
Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T. B., Prokisch, H., Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. �. �., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R., & Houlden, H. (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, . https://doi.org/10.1002/humu.24326
Scala, Marcello, et al. "Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency." Human mutation vol. (2022). doi: https://doi.org/10.1002/humu.24326
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06. PMID: 34989426.
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