Works matching Pearson marrow-pancreas syndrome

Results: 25

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Published in:

2015

By:

Sato, Takeshi;
Muroya, Koji;
Hanakawa, Junko;
Iwano, Reiko;
Asakura, Yumi;
Tanaka, Yukichi;
Murayama, Kei;
Ohtake, Akira;
Hasegawa, Tomonobu;
Adachi, Masanori

Publication type:

journal article

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1327

By:

Rötig, Agnès;
Bourgeron, Thomas;
Chretien, Dominique;
Rustin, Pierre;
Munnich, Arnold

Publication type:

Article

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 3, p. 195, doi. 10.1038/sj.ejhg.5200444

By:

van den Ouweland, J M W;
de Klerk, J B C;
van de Corput, M P;
Dirks, R W;
Raap, A K;
Scholte, H R;
Huijmans, J G M;
't Hart, L M;
Bruining, G J;
Maassen, J A

Publication type:

Article

Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report.

Published in:

Molecular Medicine Reports, 2015, v. 11, n. 5, p. 3741, doi. 10.3892/mmr.2014.3127

By:

JOONHONG PARK;
HYEJIN RYU;
WOORI JANG;
HYOJIN CHAE;
MYUNGSHIN KIM;
YONGGOO KIM;
JIYEON KIM;
JAE WOOK LEE;
NACK-GYUN CHUNG;
BIN CHO;
BYUNG KYU SUH

Publication type:

Article

Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1509

By:

Sabella‐Jiménez, Vanessa;
Otero‐Herrera, Carlos;
Silvera‐Redondo, Carlos;
Garavito‐Galofre, Pilar

Publication type:

Article

Pearson marrow‐pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation.

Published in:

Annals of Noninvasive Electrocardiology, 2020, v. 25, n. 1, p. N.PAG, doi. 10.1111/anec.12681

By:

Mats, Steffi Jennifer;
Cortez, Daniel

Publication type:

Article

Pearson marrow-pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation.

Published in:

2019

By:

Jennifer, Mats Steffi;
Cortez, Daniel;
Mats, Steffi Jennifer

Publication type:

journal article

Correspondence.

Published in:

Indian Pediatrics, 2016, v. 53, n. 3, p. 262, doi. 10.1007/s13312-016-0833-0

By:

Bu, Qingting;
Pan, Zhenyu;
Saini, Shiv;
Kulkarni, Vinay;
Roy, Manas;
Gupta, Ratan

Publication type:

Article

Redefining phenotypes associated with mitochondrial DNA single deletion.

Published in:

Journal of Neurology, 2015, v. 262, n. 5, p. 1301, doi. 10.1007/s00415-015-7710-y

By:

Mancuso, Michelangelo;
Orsucci, Daniele;
Angelini, Corrado;
Bertini, Enrico;
Carelli, Valerio;
Comi, Giacomo;
Donati, Maria;
Federico, Antonio;
Minetti, Carlo;
Moggio, Maurizio;
Mongini, Tiziana;
Santorelli, Filippo;
Servidei, Serenella;
Tonin, Paola;
Toscano, Antonio;
Bruno, Claudio;
Bello, Luca;
Caldarazzo Ienco, Elena;
Cardaioli, Elena;
Catteruccia, Michela

Publication type:

Article

Pearson's Marrow-Pancreas Syndrome in 2 Turkish Children.

Published in:

Acta Haematologica, 1992, v. 87, n. 4, p. 206, doi. 10.1159/000204769

By:

Gürgey, A.;
Rötig, A.;
Gümrük, F.;
Cemeroğlu, R.;
Sanalioğlu, F.;
Altay, C.

Publication type:

Article

Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome.

Published in:

American Journal of Hematology, 2023, v. 98, n. 12, p. E376, doi. 10.1002/ajh.27107

By:

Belgacem, Zacharia H.;
Dubois, Sonia M.;
Jacoby, Elad;
Martin, Paul L.;
Parikh, Sumit B.;
Fleming, Mark D.;
Agarwal, Suneet

Publication type:

Article

17-month-old child with Pearson syndrome and corneal haze - case report.

Published in:

2020

By:

Dziedziech, Katarzyna;
Śliwiak, Dominik;
Woś, Małgorzata

Publication type:

Case Study

Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA.

Published in:

British Journal of Haematology, 1995, v. 90, n. 2, p. 469, doi. 10.1111/j.1365-2141.1995.tb05178.x

By:

SMITH, O. P.;
HANN, I. M.;
WOODWARD, C. E.;
BROCKINGTON, M.

Publication type:

Article

A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression.

Published in:

Mitochondrial DNA. Part A, 2016, v. 27, n. 4, p. 2492, doi. 10.3109/19401736.2015.1033712

By:

Chen, Xin-Yu;
Zhao, Si-Yu;
Wang, Yan;
Wang, Dong;
Dong, Chang-Hu;
Yang, Ying;
Wang, Zhi-Hua;
Wu, Yuan-Ming

Publication type:

Article

Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature.

Published in:

Open Forum Infectious Diseases, 2016, v. 3, n. 4, p. 1, doi. 10.1093/ofid/ofw183

By:

Hiebert, Rachael M.;
Welliver, Robert C.;
Zhongxin Yu

Publication type:

Article

Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.

Published in:

2018

By:

Sur, Lucia;
Floca, Emanuela;
Samasca, Gabriel;
Lupan, Iulia;
Aldea, Cornel;
Sur, Genel

Publication type:

Case Study

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.

Published in:

European Journal of Endocrinology, 2023, v. 189, n. 5, p. 485, doi. 10.1093/ejendo/lvad137

By:

Siri, Barbara;
D’Alessandro, Annamaria;
Maiorana, Arianna;
Porzio, Ottavia;
Ravà, Lucilla;
Dionisi-Vici, Carlo;
Cappa, Marco;
Martinelli, Diego

Publication type:

Article

Pearson marrow pancreas syndrome: a molecular study and clinical management.

Published in:

Clinical Genetics, 1997, v. 51, n. 5, p. 338, doi. 10.1111/j.1399-0004.1997.tb02484.x

By:

Seneca, Sara;
Meirleir, Linda De;
Scbepper, Jean De;
Balduck, Nadine;
Jochmans, Kristin;
Liebaers, Inge;
Lissens, Willy

Publication type:

Article

Insights into Medium-chain Acyl-CoA Dehydrogenase Structure by Molecular Dynamics Simulations.

Published in:

Chemical Biology & Drug Design, 2016, v. 88, n. 2, p. 281, doi. 10.1111/cbdd.12755

By:

Bonito, Cátia A.;
Leandro, Paula;
Ventura, Fátima V.;
Guedes, Rita C.

Publication type:

Article

Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion.

Published in:

Stem Cells, 2013, v. 31, n. 7, p. 1287, doi. 10.1002/stem.1354

By:

Cherry, Anne B. C.;
Gagne, Katelyn E.;
Mcloughlin, Erin M.;
Baccei, Anna;
Gorman, Bryan;
Hartung, Odelya;
Miller, Justine D.;
Zhang, Jin;
Zon, Rebecca L.;
Ince, Tan A.;
Neufeld, Ellis J.;
Lerou, Paul H.;
Fleming, Mark D.;
Daley, George Q.;
Agarwal, Suneet

Publication type:

Article

Mitochondrial DNA mutations in renal disease: an overview.

Published in:

Pediatric Nephrology, 2021, v. 36, n. 1, p. 9, doi. 10.1007/s00467-019-04404-6

By:

Govers, Larissa P.;
Toka, Hakan R.;
Hariri, Ali;
Walsh, Stephen B.;
Bockenhauer, Detlef

Publication type:

Article

Early neurological impairment and severe anemia in a newborn with Pearson syndrome.

Published in:

2009

By:

Morel, Anne-Sophie;
Joris, Nadia;
Meuli, Reto;
Jacquemont, Sébastien;
Ballhausen, Diana;
Bonafé, Luisa;
Fattet, Sarah;
Tolsa, Jean-François;
Jacquemont, Sébastien;
Bonafé, Luisa;
Tolsa, Jean-François

Publication type:

journal article

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8

By:

Yamashita, Shintaro;
Nishino, Ichizo;
Nonaka, Ikuya;
Goto, Yu-ichi

Publication type:

Article

Measurement of the Induction of the 4977-bp Common Deletion in Human Mitochondrial DNA by Gamma Radiation Using Real-time PCR.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A666, doi. 10.1096/fasebj.21.5.a666-b

By:

Miller, Michael;
Gucwa, Jessica;
O'Donnell, Robert;
Pogozelski, Wendy

Publication type:

Article

Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome.

Published in:

Dubai Medical Journal, 2021, v. 4, n. 3, p. 276, doi. 10.1159/000516288

By:

Mir, Fatima Farid;
Madasu, Anjan;
Humad, Hani;
Rana, Asim Noor

Publication type:

Article