Results 51 to 60 of about 760 (168)

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia [PDF]

, 2005
Congenital afibrinogenemia is a rare bleeding disorder characterized by the absence in circulation of fibrinogen, a hexamer composed of two sets of three polypeptides (Aalpha, Bbeta and gamma). Each polypeptide is encoded by a distinct gene, FGA, FGB and
Corinne Di Sanza, Paolo Meda, Di Sanza, Corinne, Philippe de Moerloose, Marguerite Neerman-Arbez, Neerman Arbez, Marguerite, Vu, Dung, Meda, Paolo, Holger Scheib, Caille, Dorothee, Dorothée Caille, De Moerloose, Philippe, Dung Vu, Scheib, Holger   +13 more
core   +1 more source

Integrating Next‐Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real‐World Data From Spanish Patients

Haemophilia, Volume 31, Issue 4, Page 734-742, July 2025.
ABSTRACT Introduction Inherited coagulation factor deficiencies (ICFD) result from plasma protein deficiencies, impacting blood coagulation cascade and leading to haemorrhagic diathesis. Advancements in next‐generation sequencing (NGS) technology have enabled high‐throughput methods for molecular ICFD diagnosis.
Nina Borràs, Natàlia Comes, Lorena Ramírez, Rafael Parra, Carmen Altisent, Álvaro Lorenzo‐Vizcaya, Cristina Marzo‐Alonso, Maria‐Fernanda López‐Fernández, Mariana Canaro, María Falcón‐Rodríguez, Ángela Cortes‐Vidal, Mario A. Rios de Paz, José Antonio Rodríguez‐García, Ana Moreto‐Quintana, Perla Bandini, Carlos Hobeich, Irene Corrales, Francisco Vidal   +17 more
wiley   +1 more source

Haemorheological profile in congenital afibrinogenemia and in congenital dysfibrinogenemia: A clinical case report [PDF]

, 2019
Although the inherited quantitative and qualitative disorders of fibrinogen are rare, in the course of time patients may develop complications including episodes of arterial and venous thrombosis. It can be useful to complete the laboratory assessment of
Siragusa S., Napolitano M., Caimi G., Lo Presti R., Hopps E., Raso S.   +5 more
core   +1 more source

A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream [PDF]

, 2009
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen and bleeding symptoms. Many causative mutations have been described to date in all three fibrinogen genes, most of them in the ...
El Khorassani, M., El Khattab, M., De Moerloose, Philippe, Robert-Ebadi, Helia, Neerman Arbez, Marguerite   +4 more
core   +1 more source

CONGENITAL AFIBRINOGENEMIA (CASE REPORT)

Eurasian Journal of Medicine, 2019
We report a 42 year –old man with congenital afibrinogenemia presenting with ecchymoses and hemoptysis. Moreover we describe the diagnostic importance of congenital afibrinogenemia.
Fuat Erdem, Abdullah Uyanık, Mehmet Gündoğdu   +2 more
doaj  

Molecular genetic analysis of congenital afibrinogenemia [PDF]

, 2018
At the Hamamatsu University School of Medicine, we encountered a patient with congenital afibrinogenemia for whom genetic analysis revealed the presence of a 1238 bp deletion in the fibrinogen alpha chain (FGA) gene, which codes for fibrinogen.
タニグチ, テルミ, 前川, 真人, MIURA, Makiko, SAWAMURA, Toru, サカモト, ヒデオ, サワムラ, トオル, マエカワ, マサト, 三浦, 真希子, ハマダ, エツコ, HAMADA, Etsuko, ミウラ, マキコ, 澤村, 暢, 濱田, 悦子, SAKAMOTO, Hideo, 谷口, 照美, TANIGUCHI, Terumi, MAEKAWA, Masato, 坂本, 秀生   +17 more
core   +2 more sources

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes [PDF]

, 2001
Congenital afibrinogenemia is an autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease in a non-consanguineous Swiss family.
Parlier, G., Eber, S., Vervel, C., de Moerloose, P., Arnuti, B., Vervel, C., Eber, S., De Moerloose, Philippe, Morris, Michael Andréw, Peter-Salonen, K., d'Oiron, R., d'Oiron, R., Borg, J. Y., Antonarakis, S. E., Peter-Salonen, K., Parlier, G., Biron, C., Honsberger, A., Ripoll, L., Staeger, P., Neerman Arbez, Marguerite, Biron, C., Honsberger, A., Staeger, P., Meili, E., Antonarakis, Stylianos, Ripoll, L., Borg, J. Y., Morris, M. A., Neerman-Arbez, M., Arnuti, B., Meili, E.   +31 more
core   +1 more source

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I

Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.
This study describes a rare autosomal recessive disorder with paternal uniparental disomy of chromosome 4 leading to the homozygosity of the α‐L‐iduronidase (IDUA) splicing variant in patients with mucopolysaccharidosis type I for the first time.
Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Haibo Li   +5 more
wiley   +1 more source

Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion [PDF]

, 2003
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease: a homozygous deletion of approximately 11 kb of the ...
De Moerloose, Philippe, Parr, J. R., Morris, Michael Andréw, Neerman Arbez, Marguerite, Vu, Dung, Bolton-Maggs, P. H.   +5 more
core   +1 more source

Glanzmann′s thrombasthenia: A case report and review

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Glanzmann′s thrombasthenia (GT) is a rare autosomal recessive disorder and characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein (GP) Ilb and Illa. Usually, the disease leads to mild hemorrhage but sometimes bleeding
Ajit D Dinkar, Sujata K Satoskar, Amit Gothwal   +2 more
doaj   +1 more source