Works matching DE "GENETIC disorders"

Results: 5000

Spinal anesthesia in a patient with epidermolysis bullosa.

Published in:

Medicine Science, 2025, v. 14, n. 2, p. 575, doi. 10.5455/medscience.2024.12.161

By:

Altas, Aytac;
Perdeci, Onur

Publication type:

Article

Genomics and Your Health - U.S. Centers for Disease Control and Prevention.

Published in:

Journal of Consumer Health on the Internet, 2025, v. 29, n. 2, p. 257, doi. 10.1080/15398285.2025.2494947

By:

Bihn, Clara

Publication type:

Article

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00314-2

By:

Wakabayashi, Hiroko;
Matsumoto, Ayumi;
Komori, Sakiko;
Goto, Masahide;
Tajima, Toshihiro;
Sasaki, Aiko;
Matsumura, Takayoshi;
Yamagata, Takanori

Publication type:

Article

De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00316-0

By:

Moriura, Yuri;
Nishio, Yosuke;
Ichimura, Shintaro;
Noda, Haruka;
Tanahashi, Yoshihiro;
Yamamoto, Hikaru;
Nakazawa, Yuka;
Oso, Taichi;
Sato, Yoshiaki;
Takenouchi, Toshiki;
Saitoh, Shinji;
Muramatsu, Yukako;
Ogi, Tomoo

Publication type:

Article

Personalized Microbiome Modulation to Improve Clinical Outcomes in Pediatric Inflammatory Bowel Disease: A Multi-Omics and Interventional Approach.

Published in:

Microorganisms, 2025, v. 13, n. 5, p. 1047, doi. 10.3390/microorganisms13051047

By:

Goldiș, Adrian;
Dragomir, Radu;
Mercioni, Marina Adriana;
Goldiș, Christian;
Sirca, Diana;
Enătescu, Ileana;
Olariu, Laura;
Belei, Oana

Publication type:

Article

Non-Invasive Prenatal Screening for Down Syndrome: A Review of Mass-Spectrometry-Based Approaches.

Published in:

Life (2075-1729), 2025, v. 15, n. 5, p. 695, doi. 10.3390/life15050695

By:

Jurca, Răzvan Lucian;
Pralea, Ioana-Ecaterina;
Iacobescu, Maria;
Rus, Iulia;
Iuga, Cristina-Adela;
Stamatian, Florin

Publication type:

Article

Aptamer–ODN Chimeras: Enabling Cell-Specific ODN Targeting Therapy.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 697, doi. 10.3390/cells14100697

By:

Xia, Bei;
Zhu, Qubo

Publication type:

Article

Current Challenges With Highly Active Antiretroviral Therapy and New Hope and Horizon With CRISPR‐CAS9 Technology for HIV Treatment.

Published in:

Chemical Biology & Drug Design, 2025, v. 105, n. 5, p. 1, doi. 10.1111/cbdd.70121

By:

Zubair, Akmal;
Sujan, Arooba;
Ali, Muhammad;
Hussain, Syeda Maryam

Publication type:

Article

Management of Seckel Syndrome with Cerebral Aneurysms: Favorable Outcomes.

Published in:

Journal of Pediatric Neurosciences, 2024, v. 19, n. 3, p. 123, doi. 10.4103/jpn.jpn_143_23

By:

Chand, Prem;
Jan, Aliyan;
Khan, Durray Shahwar A.

Publication type:

Article

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1524, doi. 10.1210/clinem/dgae524

By:

Männistö, Jonna M E;
Hopkins, Jasmin J;
Hewat, Thomas I;
Nasser, Fatima;
Burrage, Joseph;
Dastamani, Antonia;
Mirante, Alice;
Murphy, Nuala;
Rzasa, Jessica;
Kerkhof, Jennifer;
Relator, Raissa;
Johnson, Matthew B;
Laver, Thomas W;
Weymouth, Luke;
Houghton, Jayne A L;
Wakeling, Matthew N;
Sadikovic, Bekim;
Dempster, Emma L;
Flanagan, Sarah E

Publication type:

Article

Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 7, p. 1344, doi. 10.1515/cclm-2024-1230

By:

Damiano, Roberta;
Della Bona, Maria;
Procopio, Elena;
Guerrini, Renzo;
Bettiol, Alessandra;
la Marca, Giancarlo

Publication type:

Article

Ears of the Lynx Sign in Lipoyl Transferase-2 (LIPT2) Deficiency.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 634, doi. 10.4103/neurol-india.Neurol-India-D-24-00717

By:

Sharma, Yashu;
Gunasekaran, Pradeep Kumar;
Saini, Arushi Gahlot;
Bhatia, Vikas

Publication type:

Article

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 513, doi. 10.4103/neurol-india.Neurol-India-D-24-00552

By:

Kumar, Hari Shankar;
Shah, Nidhi;
Shah, Parth;
Kotecha, Udhaya;
Mistri, Mehul;
Jarullah, Bushra

Publication type:

Article

Orbital mass in newborn: neuroblastoma.

Published in:

Pediatric Radiology, 2025, v. 55, n. 6, p. 1331, doi. 10.1007/s00247-025-06215-4

By:

Keceli, Merter;
Öztürk, Özge;
Ertuna, E. Yagiz

Publication type:

Article

Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement.

Published in:

Journal of Audiology & Otology, 2025, v. 29, n. 2, p. 151, doi. 10.7874/jao.2024.00143

By:

Miolo, Gianmaria;
Margiotta, Francesco;
Murgia, Alessandra;
Puppa, Lara Della;
Corona, Giuseppe

Publication type:

Article

Рецидив синдрому Сіппла.

Published in:

International Journal of Endocrinology / Mìžnarodnij Endokrinologìčnij Žurnal, 2025, v. 21, n. 3, p. 336, doi. 10.22141/2224-0721.21.3.2025.1547

By:

О. В., Сафонова;
Ю. О., Маркевич;
А. М., Урбанович;
М.-Ю. Ю., Маркевич;
А. C., Сафонов

Publication type:

Article

Real-world evidence of the effectiveness and utilization of subcutaneous C1INH long-term prophylaxis in patients with HAE in Spain and Germany.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1576235

By:

Maurer, Marcus;
Cimbollek, Stefan;
Kelly, Maebh;
Rodney, Kyle;
Elliott, John;
LoboGuerrero, Eduardo;
Magerl, Markus

Publication type:

Article

Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8‐Month‐Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 599, doi. 10.1111/pde.15827

By:

Tolson, Hannah C.;
Alzahrani, Fatmah;
Singh, Raj;
Lorsbach, Robert;
Grebe, Theresa A.;
Prakash, Supraja;
Picarsic, Jennifer;
Dupuy, Elizabeth;
Price, Harper

Publication type:

Article

SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 584, doi. 10.1111/pde.15811

By:

Balan, Batuhan Kerem;
Ersoy‐Evans, Sibel;
Isıyel, Emel;
Alehan, Dursun

Publication type:

Article

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

Published in:

Genes, 2025, v. 16, n. 5, p. 522, doi. 10.3390/genes16050522

By:

Steiner, Carlos Eduardo;
Puzzi, Maria Beatriz;
Marques-de-Faria, Antonia Paula;
de Oliveira Sobrinho, Ruy Pires;
Gil-da-Silva-Lopes, Vera Lúcia;
Moreno, Carolina Araújo

Publication type:

Article

Dyggve–Melchior–Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Published in:

Genes, 2025, v. 16, n. 5, p. 490, doi. 10.3390/genes16050490

By:

Reyes-Silva, Carlos;
Gallardo-Vizuete, Joseline;
Guzmán-Acán, Judith;
Jaramillo-Koupermann, Gabriela;
Cabrera-Andrade, Alejandro

Publication type:

Article

Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.

Published in:

Genes, 2025, v. 16, n. 5, p. 472, doi. 10.3390/genes16050472

By:

Cristalli, Carlotta Pia;
Calabrese, Sara;
Caramanna, Luca;
Pietra, Andrea;
Vitetta, Giulia;
De Nicolo, Bianca;
Bonora, Elena;
Severi, Giulia;
Menabò, Soara;
Ferrari, Simona;
Ciurli, Francesca;
Aiello, Valeria;
Capelli, Irene;
Pasini, Andrea;
Alberici, Irene;
Pillon, Roberto;
La Scola, Claudio;
Rossi, Cesare;
Montanari, Francesca;
Graziano, Claudio

Publication type:

Article

A Novel Camel Milk-Derived Peptide LLPK Improves Glucose-Lipid Metabolism in db / db Mice via PPAR Signaling Pathway.

Published in:

Nutrients, 2025, v. 17, n. 10, p. 1693, doi. 10.3390/nu17101693

By:

Han, Binsong;
Ye, Yuhui;
Zhang, Cunzheng;
Zhang, Lina;
Zhou, Peng

Publication type:

Article

ASSOCIATION BETWEEN INHERITED THROMBOPHILIA AND ISCHEMIC BRAIN DISEASE IN VOJVODINA.

Published in:

Medical Review / Medicinski Pregled, 2024, v. 77, n. 5/6, p. 160, doi. 10.2298/MPNS2406160I

By:

IVKOVIĆ, Tamara;
BARJAKTAROVIĆ, Iva;
MALETIN, Miljen;
NIKOLIĆ, Stanislava;
SUBAŠIĆ, Marko

Publication type:

Article

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 1, p. 154, doi. 10.1093/jbmr/zjae185

By:

Jarayseh, Tamara;
Debaenst, Sophie;
De Saffel, Hanna;
Rosseel, Toon;
Milazzo, Mauro;
Bek, Jan Willem;
Hudson, David M;
Van Nieuwerburgh, Filip;
Gansemans, Yannick;
Josipovic, Iván;
Boone, Matthieu N;
Witten, P Eckhard;
Willaert, Andy;
Coucke, Paul J

Publication type:

Article

Modeling of skeletal development and diseases using human pluripotent stem cells.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 1, p. 5, doi. 10.1093/jbmr/zjae178

By:

Hojo, Hironori;
Tani, Shoichiro;
Ohba, Shinsuke

Publication type:

Article

Hemoglobin Disorders Associated with Neurological Impairment: First Report of ATR-X Syndrome and Recessive Congenital Methemoglobinemia Type II in Tunisia.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4803, doi. 10.3390/ijms26104803

By:

Ouragini, Houyem;
Bouatrous, Emna;
Kasdallah, Manel;
Nouira, Sonia;
Dallali, Hamza;
Rekaya, Samia;
Chaouachi, Dorra;
Ouederni, Monia;
Menif, Samia

Publication type:

Article

Acute Kidney Injury and Chronic Kidney Disease Associated with a Genetic Defect: A Report of Two Cases.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4681, doi. 10.3390/ijms26104681

By:

Zdravkova, Irina;
Tilkiyan, Eduard;
Ivanov, Hristo;
Lambrev, Atanas;
Dzhongarova, Violeta;
Kraleva, Gergana;
Kirilov, Boris

Publication type:

Article

Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy.

Published in:

BMC Neurology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12883-025-04253-x

By:

Naderian, Ramtin;
Vafaeian, Farzane;
Hoseini, Seyyed Mohamad;
Sanami, Samira

Publication type:

Article

Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03792-3

By:

Rasmussen, Ditte K.;
Sun, Young Joo;
Franco, Joel A.;
Kumar, Aarushi;
Vu, Jennifer T.;
Bassuk, Alexander G.;
Mahajan, Vinit B.

Publication type:

Article

Ocular cues to a larger picture!

Published in:

Indian Journal of Ophthalmology, 2025, v. 73, n. 6, p. 790, doi. 10.4103/IJO.IJO_2077_24

By:

Gangwani, Aruja;
Ganesh, Meghna;
Kumar, Vinod

Publication type:

Article

Pachydermoperiostosis (Touraine-Solente-Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy.

Published in:

Journal of the Dow University of Health Sciences, 2025, v. 19, n. 1, p. 58, doi. 10.36570/jduhs.2025.1.2209

By:

Islam, Asif;
Randhawa, Kinza Shahid;
Khurshid, Fatima;
Khalood, Memoona

Publication type:

Article

Itinerarios terapéuticos de la población con Ataxia espinocerebelosa tipo 7 en Veracruz (México): una aproximación antropológica a las enfermedades de baja prevalencia.

Published in:

Revista del Museo de Antropología, 2025, v. 18, n. 1, p. 269, doi. 10.31048/dsx50d55

By:

Moctezuma Balderas, Andrea Cristina;
Muñoz Martínez, Rubén

Publication type:

Article

Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA‐4): Clinical and Functional Features From A Chinese Family.

Published in:

Pigment Cell & Melanoma Research, 2025, v. 38, n. 3, p. 1, doi. 10.1111/pcmr.70013

By:

Zhang, Yingzi;
Liu, Teng;
Yang, Qingsong;
Hu, Xuyun;
Li, Wei;
Wei, Aihua

Publication type:

Article

Oral contraceptive pills and inherited thrombophilia in a young woman with deep venous thrombosis.

Published in:

2009

By:

Mahfouz, R. A. R.;
Otrock, Z. K.;
Ghasham, M. A.;
Sabbagh, A. S.;
Taher, A. T.;
Bazarbachi, A.

Publication type:

Case Study

Alkaptonuria in a 5-year-old boy in Iraq.

Published in:

2008

By:

Al-Mefraji, S. H.

Publication type:

Case Study

O SIGNIFICADO DE UMA ORGANIZAÇÃO DE APOIO AOS PORTADORES E FAMILIARES DE FIBROSE CÍSTICA NA PERSPECTIVA DAS FAMÍLIAS.

Published in:: Texto & Contexto Enfermagem, 2011, v. 20, n. 1, p. 127, doi. 10.1590/S0104-07072011000100015
Publication type:: Article

Genetic Testing in Gastrointestinal Cancers: A Case-Based Approach.

Published in:

Oncology (08909091), 2012, v. 26, n. 5, p. 433

By:

SCHRADER, KASMINTAN;
OFFIT, KENNETH;
STADLER, ZSOFIA K.

Publication type:

Article

Interpretation of Genome-Wide Association Study Results.

Published in:

Oncology (08909091), 2010, v. 24, n. 7, p. 643

By:

Dezheng Huo;
Olopade, Olufunmilayo

Publication type:

Article

Management of a Patient With Borderline Resectable Pancreatic Cancer.

Published in:

2008

By:

Shah, Anand P.;
Strauss, Jonathan B.;
Leslie, William T.;
Shah, Amar;
Mahon, Brett;
Abrams, Ross A.

Publication type:

Case Study

Caring for Patients at Risk for Hereditary Colorectal Cancer.

Published in:

Oncology (08909091), 2007, v. 21, p. 29

By:

Greco, Karen

Publication type:

Article

The Greco Article Reviewed.

Published in:

Oncology (08909091), 2007, v. 21, p. 39

By:

Viale, Pamela Hallquist

Publication type:

Article

ASH Highlights in Neutropenia.

Published in:: 2006
Publication type:: Abstract

Non-BRCA Hereditary Breast Cancer Linked to New Cancers.

Published in:: Oncology (08909091), 2006, v. 20, n. 3, p. 308
Publication type:: Article

The Jeter/Kohlmann/Gruber Article Reviewed.

Published in:

Oncology (08909091), 2006, v. 20, n. 3, p. 286

By:

Burt, Randall W.

Publication type:

Article

The Jeter/Kohlmann/Gruber Article Reviewed.

Published in:

Oncology (08909091), 2006, v. 20, n. 3, p. 285

By:

Offit, Kenneth

Publication type:

Article

Alpha-1 Finds a Voice.

Published in:

RT: The Journal for Respiratory Care Practitioners, 2009, v. 22, n. 11, p. 20

By:

Thompson, Greg

Publication type:

Article

Incorporation of Biomedical Knowledge in Sickle Cell Disease (SCD) Representations of a Guadeloupe Schooled Population (FWI): Marie-Galante Profile.

Published in:

Caribbean Quarterly, 2009, v. 55, n. 3, p. 53

By:

JÉRÔME, PRUNEAU;
SYLVAN, FEREZ;
FRÉDÉRIC, MAILLARD;
JACQUES, DUMONT;
SÉBASTIEN, RUFFIÉ;
OLIVIER, HUE

Publication type:

Article

Cystic Fibrosis, Trikafta and Christian Hope: As an academic, most of my time is spent writing and speaking on biomedical issues from the standpoint of an individual whose outlook is informed by his background as a biomedical scientist, a biomedical ethicist, and a Christian

Published in:

Stimulus: The New Zealand Journal of Christian Thought & Practice, 2021, v. 28, n. 1, p. 23

By:

Jones, Gareth

Publication type:

Article

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 93, doi. 10.1007/s10048-006-0034-4

By:

Mannan, Ashraf U.;
Boehm, Johann;
Sauter, Simone M.;
Rauber, Anne;
Byrne, Paula C.;
Neesen, Juergen;
Engel, Wolfgang

Publication type:

Article