Results 101 to 110 of about 1,145,402 (246)

The Effect of Xmn -1 Polymorphism and Coinheritance of Alpha Mutations on Age at First Blood Transfusion in Iranian Patients with Homozygote IVS 1-5 Mutation

International Journal of Hematology-Oncology and Stem Cell Research, 2022
Background: Thalassemia syndromes are the most prevalent hereditary hemoglobinopathies in the world. Iran is located on the thalassemia belt.  In this study, the effect of Xmn -1 polymorphism and coinheritance of alpha mutations on age at first ...
Mozhgan Hashemieh, Zahraalsadat Saadatmandi, Azita Azarkeivan, Hossein Najmabadi   +3 more
doaj  

A rare case of alpha-thalassaemia intermedia in a Malay patient double heterozygous for α+ –thalassaemia and a mutation in α1 globin gene CD59 (GGC → GAC) [PDF]

, 2009
A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the α1-globin gene CD59 (GGC → GAC) and a deletion α+ (-α3.7) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype
A. S., Nor Azian, Ahmad, Rahimah, George, Elizabeth, Tan, Mary Anne Jin Ai, Zakaria, Zubaidah   +4 more
core  

Quantitative analysis of the dystrophin gene by real-time PCR [PDF]

, 2012
Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to optimize a quantitative real-time PCR method based on SYBR® Green I chemistry for routine ...
Anđelkovic Ana, Brankovic S., Bunjevacki Vera, Cvjeticanin Suzana, Damnjanovic Tatjana, Jekic Biljana, Kastratovic-Kotlica Biljana, Lukovic Ljiljana, Maksimovic Nela, Milic-Rasic Vedrana, Novakovic Ivana, Perovic Dijana, Rakocevic-Stojanovic Vidosava   +12 more
core   +2 more sources

Hepato‐Renal Protective Potential of Dimethyl Fumarate in Alloxan‐Induced Diabetic Mice Model by Modulating of Sirt1, Nrf2 and Inflammatory Genes Expressions

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 2, March 2026.
Hepato‐renal protective potential of DMF in alloxan‐induced diabetic mice model. ABSTRACT Aim Despite advances in diabetes treatments, the effects of this disease have not yet been adequately reversed or prevented in patients. Therefore, development of more effective medication‐assisted treatments in this field is needed.
Parisa Saberi‐Hasanabadi, Fatemeh Shaki, Mohammad Karami, Abouzar Bagheri, Mohammad Ranaee, Ramin Ataee   +5 more
wiley   +1 more source

Biochemical and Hematological Study with the Appreciation of some Immunological Parameters in Thalassemia Patients at Kerbala Province

Journal of Pure and Applied Microbiology, 2018
Thalassemia is a genetic disorder occurs as a result of the imbalance in the construction of haemoglobin chains cause haemolytic anaemia. This study was aimed to evaluate the serum level of immunological parameters (Transforming growth factor beta1 ...
Rusul Malik Al-Dedah, Wafaa S. Al-wazni, Mohammed Talat abbas, Hussein H. Al-Ghanimi, Fatema Abduallah   +4 more
doaj   +1 more source

Prenatal screening and counseling for genetic disorders [PDF]

, 2013
Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal
CASTALDO, GIUSEPPE, MARTINELLI, PASQUALE, MARUOTTI, GIUSEPPE MARIA, SARNO, LAURA, SIMIOLI, STEFANIA   +4 more
core   +1 more source

Cell and Gene Therapy in Equine Ocular Disease

Veterinary Ophthalmology, Volume 29, Issue 2, March 2026.
ABSTRACT Equine ocular disease is common and often challenging to treat using traditional methods. This has led to the development of new therapies. Like human medicine, veterinary medicine is adopting cellular and gene therapy as innovative approaches. Equine ocular disease is a particularly promising area for these techniques.
Kimberly A. S. Young, Lauren V. Schnabel, Brian C. Gilger   +2 more
wiley   +1 more source

Alpha-thalassemia due to novel deletions and complex rearrangements in the subtelomeric region of chromosome 16p [PDF]

, 2017
2º Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge, INSA, 8 maio 2017Introduction: Inherited deletions removing the α-globin genes and/or their upstream regulatory elements (MCSs) give rise to alpha-thalassemia, one of the ...
Batalha Reis, Ana, Coelho, Andreia, F. Lacerda, João, Faustino, Paula, Ferrão, José, Gomes, Susana, Gonçalves, João, Gonçalves, Lúcia, Kjollerstrom, Paula, Lavinha, João, Loureiro, Pedro, Maia, Raquel, Miranda, Armandina, Monteiro, Estela, Pina, Francisca, Seuanes, Filomena, Silva, Marisa, Sonesson, Annika, Valtonen-André, Camila   +18 more
core   +1 more source

The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease [PDF]

, 2006
Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems ...
Beltrão, A.c.s., Figueiredo, Maria Stella, Gil, I.c.p., Lourenco, Dayse Maria, Moreira Neto, F., Morelli, V.m., Noguti, Maria Aparecida Eiko   +6 more
core   +3 more sources

Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf, Jeanette El Hajj, Jana Doghman, Fatima Hussein, Simone Khalifeh   +4 more
wiley   +1 more source