Works matching DE "GENETIC disorder treatment"

Results: 562

Are we ACE-ing the early treatment of Alport syndrome?

Published in:

2025

By:

Williamson, Samantha J.;
Liebau, Max;
Lennon, R.Rachel

Publication type:

Letter

Genetic Susceptibility Model of Parkinson's Disease Resulting from Exposure of DJ-1 Deficient Mice to MPTP: Evaluation of Neuroprotection by Ubisol-Q10.

Published in:

Journal of Parkinson's Disease, 2014, v. 4, n. 3, p. 523, doi. 10.3233/JPD-140368

By:

Muthukumaran, Krithika;
Smith, Jessica;
Jasra, Harshil;
Sikorska, Marianna;
Sandhu, Jagdeep K.;
Cohen, Jerome;
Lopatin, Daniel;
Pandey, Siyaram

Publication type:

Article

EXEQUIBILIDADE DA ATENÇÃO INTEGRAL EM GENÉTICA CLÍNICA NO SISTEMA ÚNICO DE SAÚDE: AMPLIANDO O DEBATE.

Published in:

Texto & Contexto Enfermagem, 2014, v. 23, n. 4, p. 1130, doi. 10.1590/0104-07072014002120012

By:

Lopes-Júnior, Luís Carlos;
Flória-Santos, Milena;
Ferraz, Victor Evangelista de Faria;
Villa, Tereza Cristina Scatena;
Palha, Pedro Fredemir;
Bomfim, Emiliana de Omena;
Abrahão, Camila Aparecida;
da Silva, Sara

Publication type:

Article

Pharmaxis Releases Positive Results of Phase 3 Cystic Fibrosis Trial.

Published in:: RT: The Journal for Respiratory Care Practitioners, 2009, v. 22, n. 6, p. 34
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

Current concepts in genetics of nonsyndromic clefts.

Published in:

Indian Journal of Plastic Surgery, 2009, v. 42, n. 1, p. 68, doi. 10.4103/0970-0358.53004

By:

Murthy, Jyotsna;
Bhaskar, L. V. K. S.

Publication type:

Article

Morgagni’s Hernia: Analysis of 21 Patients with Our Clinical Experience in Diagnosis and Treatment.

Published in:

Indian Journal of Surgery, 2018, v. 80, n. 3, p. 239, doi. 10.1007/s12262-016-1580-0

By:

Arikan, Soykan;
Dogan, Mehmet Baki;
Kocakusak, Ahmet;
Ersoz, Feyzullah;
Sari, Serkan;
Duzkoylu, Yigit;
Nayci, Ali Emre;
Ozoran, Emre;
Tozan, Emine;
Dubus, Turkan

Publication type:

Article

Current Concepts in the Management of Congenital Diaphragmatic Hernia in Infants.

Published in:

Indian Journal of Surgery, 2015, v. 77, n. 4, p. 313, doi. 10.1007/s12262-015-1286-8

By:

Kumar, Vasanth

Publication type:

Article

Factoring Them In: Shining the Spotlight on Women and Girls with Congenital Bleeding Disorders.

Published in:

Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 608, doi. 10.1089/jwh.2019.8255

By:

Carpenter, Shannon L.

Publication type:

Article

A Cross-Sectional Study of Women and Girls with Congenital Bleeding Disorders: The American Thrombosis and Hemostasis Network Cohort.

Published in:

Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 670, doi. 10.1089/jwh.2019.7930

By:

Haley, Kristina M.;
Sidonio Jr., Robert F.;
Abraham, Shirley;
Dunlei Cheng;
Recht, Michael;
Kulkarni, Roshni

Publication type:

Article

Guideline on Dental Management of Heritable Dental Developmental Anomalies.

Published in:: 2016
Publication type:: journal article

Direct Observation of Dynamic Mechanical Regulation of DNA Condensation by Environmental Stimuli.

Published in:

Angewandte Chemie, 2014, v. 126, n. 40, p. 10807, doi. 10.1002/ange.201403499

By:

Lee, Amy;
Karcz, Adam;
Akman, Ryan;
Zheng, Tai;
Kwon, Sara;
Chou, Szu ‐ Ting;
Sucayan, Sarah;
Tricoli, Lucas J.;
Hustedt, Jason M.;
Leng, Qixin;
Kahn, Jason D.;
Mixson, A. James;
Seog, Joonil

Publication type:

Article

‘COV’COP’ allows to detect CNVs responsible for inherited diseases among amplicons sequencing data.

Published in:

Bioinformatics, 2017, v. 33, n. 10, p. 1586, doi. 10.1093/bioinformatics/btx017

By:

Derouault, P.;
Parfait, B.;
Moulinas, R.;
Barrot, C.-C.;
Sturtz, F.;
Merillou, S.;
Lia, A.-S.

Publication type:

Article

Precise CAG repeat contraction in a Huntington's Disease mouse model is enabled by gene editing with SpCas9-NG.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02304-w

By:

Oura, Seiya;
Noda, Taichi;
Morimura, Naoko;
Hitoshi, Seiji;
Nishimasu, Hiroshi;
Nagai, Yoshitaka;
Nureki, Osamu;
Ikawa, Masahito

Publication type:

Article

The hare and the tortoise: an embryonic haematopoietic race.

Published in:

Nature Reviews Immunology, 2002, v. 2, n. 8, p. 593, doi. 10.1038/nri857

By:

Godin, Isabelle;
Cumano, Ana

Publication type:

Article

Clinical Variant Reclassification in Hereditary Disease Genetic Testing.

Published in:

JAMA Network Open, 2024, v. 7, n. 11, p. e2444526, doi. 10.1001/jamanetworkopen.2024.44526

By:

Kobayashi, Yuya;
Chen, Elaine;
Facio, Flavia M.;
Metz, Hillery;
Poll, Sarah R.;
Swartzlander, Dan;
Johnson, Britt;
Aradhya, Swaroop

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

Subthalamic nucleus deep brain stimulation in the treatment of pantothenate kinase - associated neurodegeneration: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2022, v. 22, n. 3, p. 211, doi. 10.3969/j.issn.1672-6731.2022.03.015

By:

LÜ Hong;
WANG Jun;
YU Hong-mei;
YAN Xue-jing;
LIU Ji-yuan;
HE Zhi-yi

Publication type:

Article

Focus on the treatment of hereditary muscular diseases.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 5, p. 295, doi. 10.3969/j.issn.1672-6731.2019.05.001

By:

ZHANG Cheng

Publication type:

Article

Successful treatment of acquired C1 inhibitor deficiency with icatibant.

Published in:

2010

By:

Bright, P.;
Dempster, J.;
Longhurst, H.

Publication type:

Letter

High-frequency oscillatory ventilation versus conventional ventilation in the respiratory management of term neonates with a congenital diaphragmatic hernia: a retrospective cohort study.

Published in:

European Journal of Pediatrics, 2022, v. 181, n. 11, p. 3899, doi. 10.1007/s00431-022-04590-w

By:

Semama, Camille;
Vu, Sandrine;
Kyheng, Maeva;
Le Duc, Kevin;
Plaisant, Frank;
Storme, Laurent;
Claris, Olivier;
Mur, Sébastien;
Butin, Marine

Publication type:

Article

Ventricular function in congenital diaphragmatic hernia: a systematic review and meta-analysis.

Published in:

European Journal of Pediatrics, 2022, v. 181, n. 3, p. 1071, doi. 10.1007/s00431-021-04303-9

By:

Prasad, Rameshwar;
Saha, Bijan;
Kumar, Amit

Publication type:

Article

Human genetics in health care.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S170, doi. 10.1007/PL00014397

By:

van Ommen, Gert-Jan B.

Publication type:

Article

Therapeutic Options in Hereditary Optic Neuropathies.

Published in:

Drugs, 2021, v. 81, n. 1, p. 57, doi. 10.1007/s40265-020-01428-3

By:

Amore, Giulia;
Romagnoli, Martina;
Carbonelli, Michele;
Barboni, Piero;
Carelli, Valerio;
La Morgia, Chiara

Publication type:

Article

Gene Therapy for Primary Immunodeficiencies: Current Status and Future Prospects.

Published in:

2014

By:

Qasim, Waseem;
Gennery, Andrew

Publication type:

Journal Article

Unrelated CD3/CD19-Depleted Peripheral Stem Cell Transplantation for Hurler Syndrome.

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 8, p. 723, doi. 10.3109/08880018.2014.939794

By:

Schwinger, Wolfgang;
Sovinz, Petra;
Benesch, Martin;
Lackner, Herwig;
Seidel, Markus;
Strenger, Volker;
Sperl, Daniela;
Raicht, Andrea;
Brunner-Krainz, Michaela;
Paschke, Eduard;
Plecko, Barbara;
Urban, Christian

Publication type:

Article

Chemotherapy Increases Amenability of Surgical Resection in Congenital Glioblastoma.

Published in:

Pediatric Hematology & Oncology, 2012, v. 29, n. 6, p. 538, doi. 10.3109/08880018.2012.706867

By:

Kotecha, Rishi S.;
Burley, Katy;
Junckerstorff, Reimar C.;
Lee, Sharon;
Phillips, Marianne B.;
Cole, Catherine H.;
Gottardo, Nicholas G.

Publication type:

Article

Diagnostic and Therapeutic Strategies for Fluoropyrimidine Treatment of Patients Carrying Multiple DPYD Variants.

Published in:

Genes, 2018, v. 9, n. 12, p. 585, doi. 10.3390/genes9120585

By:

Lunenburg, Carin A. T. C.;
Henricks, Linda M.;
van Kuilenburg, André B. P.;
Mathijssen, Ron H. J.;
Schellens, Jan H. M.;
Gelderblom, Hans;
Guchelaar, Henk-Jan;
Swen, Jesse J.

Publication type:

Article

Revolution in Gene Medicine Therapy and Genome Surgery.

Published in:

Genes, 2018, v. 9, n. 12, p. 575, doi. 10.3390/genes9120575

By:

Jiang, David J.;
Xu, Christine L.;
Tsang, Stephen H.

Publication type:

Article

Viral Vector-Mediated Antisense Therapy for Genetic Diseases.

Published in:

Genes, 2017, v. 8, n. 2, p. 51, doi. 10.3390/genes8020051

By:

Imbert, Marine;
Dias-Florencio, Gabriella;
Goyenvalle, Aurélie

Publication type:

Article

Hirschsprung Disease Diagnosis: Calretinin Marker Role in Determining the Presence or Absence of Ganglion Cells.

Published in:

Iranian Journal of Pathology, 2016, v. 11, n. 4, p. 409

By:

Rakhshani, Nasser;
Araste, Mohammadreza;
Imanzade, Farid;
Panahi, Mahshid;
Tameshkel, Fahimeh Safarnezhad;
Sohrabi, Masoud Reza;
Karbalaie Niya, Mohammad Hadi;
Zamani, Farhad

Publication type:

Article

Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 37, doi. 10.2147/TACG.S51064

By:

Pignolo, Robert J.;
Ramaswamy, Girish;
Fong, John T.;
Shore, Eileen M.;
Kaplan, Frederick S.

Publication type:

Article

Splicing modulation therapy in the treatment of genetic diseases.

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 245, doi. 10.2147/TACG.S71506

By:

Arechavala-Gomeza, Virginia;
Khoo, Bernard;
Aartsma-Rus, Annemieke

Publication type:

Article

Is Octreotide Treatment Useful in Patients with Congenital Chylothorax?

Published in:

Neonatology (16617800), 2012, v. 101, n. 3, p. 225, doi. 10.1159/000330413

By:

Horvers, Maud;
Mooij, Christiaan F.;
Antonius, Timothy A.J.

Publication type:

Article

Congenital Pulmonary Lymphangiectasia in a Newborn: A Response to Autologous Blood Therapy.

Published in:

Neonatology (16617800), 2007, v. 91, n. 4, p. 256, doi. 10.1159/000098172

By:

Mustafa Akcakus;
Esad Koklu;
Mehmet Bilgin;
Selim Kurtoglu;
Levent Altunay;
Mehmet Canpolat;
Nurten Budak

Publication type:

Article

Mitochondrial Membrane Protein-Associated Neurodegeneration Presenting as Psychotic Depression: A Case Report.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2024, v. 61, p. 24

By:

Uyar, Aslihan;
Gonul, Ali Saffet

Publication type:

Article

Congenital dislocation of knee: results of the treatment in 29 cases between 1970 and 2010 years at Shafa Yahyaian Hospital in Tehran.

Published in:

Tehran University Medical Journal, 2012, v. 70, n. 5, p. 314

By:

Rahbar, Mohammad;
Jabalameli, Mahmud;
Aqajani, Nadia;
Shafipour, Reza

Publication type:

Article

Changing hopes and concerns about gene therapy in Japan.

Published in:

Journal of Commercial Biotechnology, 2007, v. 13, n. 3, p. 209, doi. 10.1057/palgrave.jcb.3050055

By:

Macer, Darryl;
Okada, Yoshihiro;
Nakagawa, Makoto;
Chen Ng, MaryAnn;
Inaba, Masakazu

Publication type:

Article

Reproductive genome editing interventions are therapeutic, sometimes.

Published in:

Bioethics, 2021, v. 35, n. 6, p. 557, doi. 10.1111/bioe.12846

By:

Palacios‐González, César

Publication type:

Article

Impacto del estoma enteral en el niño y la familia.

Published in:

Avances en Enfermería, 2010, v. 28, p. 99

By:

Guerrero, Sandra;
Angelo, Margareth

Publication type:

Article

Preventing posterior sagittal anoplasty 'cripples' in areas with limited medical resources: A few modifi cations to surgical approach in anorectal malformations.

Published in:

African Journal of Paediatric Surgery, 2012, v. 9, n. 3, p. 223, doi. 10.4103/0189-6725.104724

By:

Olivieri, Claudio;
Belay, Kibreab;
Coletta, Riccardo;
Retrosi, Giuseppe;
Molle, Philippe;
Calisti, Alessandro

Publication type:

Article

Prune belly syndrome with pouch colon and absent dermatome.

Published in:

2010

By:

Baba, Aejaz A.;
Hussain, Syed A.;
Shera, Altaf H.;
Patnaik, Rekha

Publication type:

Case Study

Hepatic pulmonary fusion: A rare case.

Published in:

2010

By:

Taide, Devendra V.;
Bendre, Pradyna S.;
Kirtane, Jyotsna M.;
Mukunda, R.

Publication type:

Case Study

Congenital lobar emphysema: Is surgery routinely necessary?

Published in:

2010

By:

Ceran, Sami;
Altuntas, Bayram;
Sunam, Guven Sadi;
Bulut, Ismet

Publication type:

Case Study

Highly Effective Cystic Fibrosis Clinical Research Teams: Critical Success Factors.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 714, doi. 10.1007/s11606-014-2896-8

By:

Retsch-Bogart, George;
Dalfsen, Jill;
Marshall, Bruce;
George, Cynthia;
Pilewski, Joseph;
Nelson, Eugene;
Goss, Christopher;
Ramsey, Bonnie

Publication type:

Article

The Rare Diseases Clinical Research Network's Organization and Approach to Observational Research and Health Outcomes Research.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 739, doi. 10.1007/s11606-014-2894-x

By:

Krischer, Jeffrey;
Gopal-Srivastava, Rashmi;
Groft, Stephen.;
Eckstein, David

Publication type:

Article

A Systematic Review of Approaches for Engaging Patients for Research on Rare Diseases.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 788, doi. 10.1007/s11606-014-2895-9

By:

Forsythe, Laura;
Szydlowski, Victoria;
Murad, Mohammad;
Ip, Stanley;
Wang, Zhen;
Elraiyah, Tarig;
Fleurence, Rachael;
Hickam, David

Publication type:

Article

Relationship between impulse oscillometry and spirometric indices in cystic fibrosis children.

Published in:

Acta Paediatrica, 2009, v. 98, n. 6, p. 1019, doi. 10.1111/j.1651-2227.2009.01246.x

By:

Moreau, Ludovic;
Crenesse, Dominique;
Berthier, Frederic;
Albertini, Marc

Publication type:

Article

Predictive Value of Positive Margins in Diagnostic Biopsies of Dysplastic Nevi.

Published in:

Dermatology Research & Practice, 2020, p. 1, doi. 10.1155/2020/6716145

By:

Dickman, Jeffrey S.;
Haddad, Reem M.;
Racette, Andrew

Publication type:

Article

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.

Published in:

Nature Medicine, 2012, v. 18, n. 1, p. 71, doi. 10.1038/nm.2548

By:

Schneider, Anette;
Thiel, Christian;
Rindermann, Jan;
DeRossi, Charles;
Popovici, Diana;
Hoffmann, Georg F;
Gröne, Hermann-Josef;
Körner, Christian

Publication type:

Article