Works matching Genetic disorder treatment

Results: 1009

Killing cancer by targeting genes that cancer cells have lost: Allele-specific inhibition, a novel approach to the treatment of genetic disorders.

Published in:

Cellular & Molecular Life Sciences, 2003, v. 60, n. 5, p. 834, doi. 10.1007/s00018-003-3043-6

By:

Fluiter, K.;
Housman, D.;
Ten Asbroek, A. L. M. A.;
Baas, F.

Publication type:

Article

New Insights into Unusual Genetic Disorder Pave the Way for Promising Treatments.

Published in:

PLoS Biology, 2013, v. 11, n. 8, p. 1, doi. 10.1371/journal.pbio.1001628

By:

Weaver, Janelle

Publication type:

Article

Early identification and treatment of genetic and neurodevelopmental disorders.

Published in:

2024

By:

Winarni, T. I.;
Utari, A.;
Maharani, N.;
Sumekar, T. A.;
Sihombing, N. R. B.;
Hagerman, R. J.

Publication type:

Proceeding

New Challenges with Treatment Advances in Newborn Infants with Genetic Disorders and Severe Congenital Malformations.

Published in:

Children, 2022, v. 9, n. 2, p. 236, doi. 10.3390/children9020236

By:

Schuler, Rahel;
Bedei, Ivonne;
Oehmke, Frank;
Zimmer, Klaus-Peter;
Ehrhardt, Harald

Publication type:

Article

Focal Treatment for Genetic Disorders (A Fairy Tale or a True Story?).

Published in:

International Cardiovascular Research Journal, 2014, v. 8, n. 4, p. 137

By:

Nikoo, Mohamad Hossein;
Jorat, Mohamad Vahid;
Aslani, Amir

Publication type:

Article

Integration of Artificial Intelligence and Genome Editing System for Determining the Treatment of Genetic Disorders.

Published in:

Balkan Medical Journal, 2024, v. 41, n. 6, p. 419, doi. 10.4274/balkanmedj.galenos.2024.2024-080824

By:

Erdoğan, Suat

Publication type:

Article

Gold Nanoparticle-Mediated Gene Therapy.

Published in:

Cancers, 2022, v. 14, n. 21, p. 5366, doi. 10.3390/cancers14215366

By:

Kanu, Gayathri A.;
Parambath, Javad B. M.;
Abu Odeh, Raed O.;
Mohamed, Ahmed A.

Publication type:

Article

Treatment of Cognitive Deficits in Genetic Disorders.

Published in:

JAMA Neurology, 2015, v. 72, n. 9, p. 1052, doi. 10.1001/jamaneurol.2015.0443

By:

van der Vaart, Thijs;
Overwater, Iris E.;
Oostenbrink, Rianne;
Moll, Henriëtte A.;
Elgersma, Ype

Publication type:

Article

Rare Genetic Disorders: Novel Treatment Strategies and Insights Into Human Biology.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.714764

By:

Koch, Peter J.;
Koster, Maranke I.

Publication type:

Article

Stem cell-based therapy for α<sub>1</sub>-antitrypsin defi ciency.

Published in:

Stem Cell Research & Therapy, 2012, v. 3, n. 1, p. 1, doi. 10.1186/scrt95

By:

Rashid, S. Tamir;
Lomas, David A.

Publication type:

Article

ADHD in Patients With Bipolar Disorder: Genetics, Diagnosis, and Treatment.

Published in:

Psychiatric Times, 2021, v. 38, n. 1, p. 25

By:

Osser, David N.

Publication type:

Article

HotSpots.

Published in:

Clinical Genetics, 2001, v. 60, n. 2, p. 102, doi. 10.1034/j.1399-0004.2001.6002023.x

By:

Devon, Rebecca S;
Chopra, Vikramjit;
van Raamsdonk, Jeremy M

Publication type:

Article

Cystic Fibrosis in the 21st Century.

Published in:

Current Medical Literature: Respiratory Medicine, 2010, v. 24, n. 4, p. 85

By:

Simmonds, Nicholas J.

Publication type:

Article

UK developments in treating genetic disorders: NSCAG.

Published in:

Haemophilia, 1998, v. 4, p. 20, doi. 10.1046/j.1365-2516.1998.0040s1020.x

By:

Crump, Bernard

Publication type:

Article

New insights into structure-function relationships between archeal ATP synthase (A[sub1]A[sub0]) and vacuolar type ATPase (V[sub1]V[sub0]).

Published in:

BioEssays, 2008, v. 30, n. 11/12, p. 1096, doi. 10.1002/bies.20827

By:

Gruüber, Gerhard;
Marshansky, Vladimir

Publication type:

Article

An Update of Childhood Genetic Disorders.

Published in:

2013

By:

Prows, Cynthia A.;
Hopkin, Robert J.;
Barnoy, Sivia;
Van Riper, Marcia

Publication type:

Journal Article

To Skip or Not to Skip: That Is the Question for Duchenne Muscular Dystrophy.

Published in:: Molecular Therapy, 2013, v. 21, n. 12, p. 2131, doi. 10.1038/mt.2013.252
Publication type:: Article

CRISPR-CAS9: THE LATEST FASHION IN DESIGNER BABIES.

Published in:

Ethics & Medicine: An International Journal of Bioethics, 2017, v. 33, n. 2, p. 81

By:

SAS, DARYL F.;
MARTINLAWRENZ, HANNAH

Publication type:

Article

In vivo genome editing restores haemostasis in a mouse model of haemophilia.

Published in:

Nature, 2011, v. 475, n. 7355, p. 217, doi. 10.1038/nature10177

By:

Hojun Li;
Haurigot, Virginia;
Doyon, Yannick;
Tianjian Li;
Wong, Sunnie Y.;
Bhagwat, Anand S.;
Malani, Nirav;
Anguela, Xavier M.;
Sharma, Rajiv;
Ivanciu, Lacramiora;
Murphy, Samuel L.;
Finn, Jonathan D.;
Khazi, Fayaz R.;
Shangzhen Zhou;
Paschon, David E.;
Rebar, Edward J.;
Bushman, Frederic D.;
Gregory, Philip D.;
Holmes, Michael C.;
High, Katherine A.

Publication type:

Article

Translational Medicine and Biomarkers.

Published in:

Applied Clinical Trials, 2013, v. 22, n. 9, p. 4

By:

Hilton, Holly;
Jenkins, Rand;
Lobel, Steve

Publication type:

Article

Biomarkers are Used for Multiple Purposes.

Published in:: Applied Clinical Trials, 2013, v. 22, n. 9, p. 2
Publication type:: Article

Study of Photochemical Cytosine to Uracil Transition via Ultrafast Photo-Cross-Linking Using Vinylcarbazole Derivatives in Duplex DNA.

Published in:

Molecules, 2018, v. 23, n. 4, p. 828, doi. 10.3390/molecules23040828

By:

Sethi, Siddhant;
Nakamura, Shigetaka;
Fujimoto, Kenzo

Publication type:

Article

Lentiviral Mediated Correction of Genetic Disorders.

Published in:

Journal of Advanced Scientific Research, 2012, v. 3, n. 4, p. 04

By:

Dugal, Suparna;
Choudhary, Aasia

Publication type:

Article

Lipoplexes versus nanoparticles: pDNA/siRNA delivery.

Published in:

Drug Delivery, 2013, v. 20, n. 2, p. 57, doi. 10.3109/10717544.2012.752419

By:

Khurana, Bharat;
Goyal, Amit K.;
Budhiraja, Abhishek;
Aora, Diasy;
Vyas, Suresh P.

Publication type:

Article

Nonsense suppression therapies in ocular genetic diseases.

Published in:

Cellular & Molecular Life Sciences, 2015, v. 72, n. 10, p. 1931, doi. 10.1007/s00018-015-1843-0

By:

Wang, Xia;
Gregory-Evans, Cheryl

Publication type:

Article

Prademagene Zamikeracel.

Published in:: American Journal of Health-System Pharmacy, 2025, v. 82, n. 15, p. e649, doi. 10.1093/ajhp/zxaf135
Publication type:: Article

4例连续肾脏替代治疗新生儿遗传代谢疾病合并高氨血症的救治与护理.

Published in:

Chinese Nursing Research, 2023, v. 37, n. 20, p. 3755, doi. 10.12102/j.issn.1009-6493.2023.20.027

By:

谢帅华

Publication type:

Article

Anesthetic considerations in myofibrillar myopathy.

Published in:

Pediatric Anesthesia, 2015, v. 25, n. 3, p. 231, doi. 10.1111/pan.12516

By:

Latham, Gregory J.;
Lopez, Grace

Publication type:

Article

Long tail balloon as a new approach for fetoscopic tracheal occlusion for a treatment of severe congenital diaphragmatic hernia.

Published in:

Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 3, p. 719, doi. 10.1111/jog.13895

By:

Tchirikov, Michael;
Springer, Carsten;
Seeger, Sven;
Behrmann, Curd;
Bergner, Michael;
Haase, Roland

Publication type:

Article

A nationwide database analysis of demographics and outcomes related to Extracorporeal Membrane Oxygenation (ECMO) in congenital diaphragmatic hernia.

Published in:

2021

By:

Snyder, Alana N.;
Cheng, Tiffany;
Burjonrappa, Sathyaprasad

Publication type:

journal article

Endoplasmic reticulum stress response is activated in pulmonary hypoplasia secondary to congenital diaphragmatic hernia, but is decreased by administration of amniotic fluid stem cells.

Published in:

2018

By:

Tzanetakis, Areti;
Antounians, Lina;
Belfiore, Alyssa;
Ma, Qi;
Stasiewicz, Mark;
Pellerito, Ornella;
Zani, Augusto

Publication type:

journal article

Response to pulmonary vasodilators in infants with congenital diaphragmatic hernia.

Published in:

2018

By:

Kumar, Vasantha H. S.;
Dadiz, Rita;
Koumoundouros, Jamie;
Guilford, Stephanie;
Lakshminrusimha, Satyan

Publication type:

journal article

Effect of Perflubron-induced lung growth on pulmonary vascular remodeling in congenital diaphragmatic hernia.

Published in:

2016

By:

Shah, Mansi;
Phillips, Michael;
Bryner, Benjamin;
Hirschl, Ronald;
Mychaliska, George;
McLean, Sean;
Phillips, Michael R;
Hirschl, Ronald B;
Mychaliska, George B;
McLean, Sean E

Publication type:

journal article

Congenital diaphragmatic hernia, management in the newborn.

Published in:

2015

By:

McHoney, Merrill

Publication type:

journal article

Retinoblastoma and mosaic 13q deletion: a case report.

Published in:

2021

By:

Gargallo, Pablo;
Oltra, Silvestre;
Balaguer, Julia;
Barranco, Honorio;
Yáñez, Yania;
Segura, Vanessa;
Juan-Ribelles, Antonio;
Calabria, Inés;
Llavador, Margarita;
Castel, Victoria;
Cañete, Adela

Publication type:

Case Study

Successful Management of Ornithine Transcarbamylase Deficiency Presenting with Reversible Metabolic Stroke in a Child.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 63, doi. 10.4274/jpr.63325

By:

Dedeoğlu, Özge;
Kasapkara, Çiğdem;
Oğuz, Kader Karlı;
Altınel, Esma;
Aksoy, Ayşe

Publication type:

Article

Unilateral Sensorineural Hearing Loss in Johnson-Blizzard Syndrome: A Rare Case Report.

Published in:

Journal of Comprehensive Pediatrics, 2025, v. 16, n. 2, p. 1, doi. 10.5812/jcp-157282

By:

Hosseini, Amirhossein;
Alibeik, Mina;
Fard, Parisa Rasouli;
Omid, Soheil;
Sayyari, Aliakbar;
Imanzadeh, Farid;
Vafaei, Deniz;
Mollaei, Maryam

Publication type:

Article

Evaluating polyethyleneimine/DNA nanoparticles-mediated damage to cellular organelles using endoplasmic reticulum stress profile.

Published in:

Artificial Cells, Nanomedicine & Biotechnology, 2018, v. 46, n. 1, p. 192, doi. 10.1080/21691401.2017.1304406

By:

Dabbaghi, Maryam;
Kazemi Oskuee, Reza;
Hashemi, Khadijeh;
Afkhami Goli, Amir

Publication type:

Article

Applications of nanoparticle systems in gene delivery and gene therapy.

Published in:

Artificial Cells, Nanomedicine & Biotechnology, 2016, v. 44, n. 2, p. 581, doi. 10.3109/21691401.2014.971805

By:

Kafshdooz, Taiebeh;
Kafshdooz, Leila;
Akbarzadeh, Abolfazl;
Hanifehpour, Younes;
Joo, Sang Woo

Publication type:

Article

Life-Saving Experimental Treatment for a Teenage Ward of the State.

Published in:

2022

By:

Sacks, Henry;
Rhodes, Rosamond

Publication type:

Case Study

Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses of ELX‐02, a Potential Treatment for Genetic Disorders Caused by Nonsense Mutations, in Healthy Volunteers.

Published in:

Clinical Pharmacology in Drug Development, 2019, v. 8, n. 8, p. 984, doi. 10.1002/cpdd.647

By:

Leubitz, Andi;
Frydman‐Marom, Anat;
Sharpe, Neal;
Duzer, John;
Campbell, Kathleen C.M.;
Vanhoutte, Frédéric

Publication type:

Article

Effect of Pradigastat, a Diacylglycerol Acyltransferase 1 Inhibitor, on the QTcF Interval in Humans.

Published in:

Clinical Pharmacology in Drug Development, 2016, v. 5, n. 6, p. 450, doi. 10.1002/cpdd.278

By:

Meyers, Charles D.;
Noe, Adele;
Salunke, Atish;
Movva, Aishwarya;
Kulmatycki, Kenneth;
Neelakantham, Srikanth;
Crissey, Anne;
Majumdar, Tapan;
Chen, Jin

Publication type:

Article

Multidisciplinary Team for Genetic Disorders - Integration with Clinicians and Health-care Professionals.

Published in:

Apollo Medicine, 2023, v. 20, n. 2, p. 144, doi. 10.4103/am.am_82_23

By:

Endrakanti, Mounika;
Gupta, Neerja

Publication type:

Article

Genetically defined autoinflammatory diseases.

Published in:

Oral Diseases, 2016, v. 22, n. 7, p. 591, doi. 10.1111/odi.12448

By:

Jesus, AA;
Goldbach‐Mansky, R

Publication type:

Article

P050 Consensus based practice guidelines for the management and treatment of Juvenile familial Mediterranean fever: the Egyptian College of Paediatric Rheumatology initiative.

Published in:

Rheumatology, 2021, v. 60, p. 1, doi. 10.1093/rheumatology/keab722.042

By:

Salah, S;
Lotfy, H;
Hassan, M;
Abdulhady, H;
Salah, H;
Gaafary, M El;
El-Latif, E Abd;
Farag, Y;
Eissa, M;
Maher, S Esam;
Radwan, A;
El-Shanawany, Amira T;
Medhat, B M;
Mikkawy, D El;
Mosa, D M;
Deriny, G El;
Mortada, M;
Osman, N S;
Fouad, N A;
Elkaraly, N E

Publication type:

Article

A systematic literature review of efficacy, effectiveness and safety of biologic therapies for treatment of familial Mediterranean fever.

Published in:

Rheumatology, 2020, v. 59, n. 10, p. 2711, doi. 10.1093/rheumatology/keaa205

By:

Kuemmerle-Deschner, Jasmin B;
Gautam, Raju;
George, Aneesh T;
Raza, Syed;
Lomax, Kathleen G;
Hur, Peter

Publication type:

Article

Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.

Published in:

2020

By:

Jamilloux, Yvan;
Magnotti, Flora

Publication type:

Letter to the Editor

Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever: reply.

Published in:

2020

By:

Stella, Alessandro;
Portincasa, Piero

Publication type:

Letter to the Editor

Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.

Published in:

Rheumatology, 2019, v. 58, p. vi31, doi. 10.1093/rheumatology/kez448

By:

Kacar, Mark;
Pathak, Shelly;
Savic, Sinisa

Publication type:

Article

Bone involvement in monogenic autoinflammatory syndromes.

Published in:

Rheumatology, 2018, v. 57, n. 4, p. 606, doi. 10.1093/rheumatology/kex306

By:

Bader-Meunier, Brigitte;
Nieuwenhove, Erika Van;
Breton, Sylvain;
Wouters, Carine

Publication type:

Article