Results 71 to 80 of about 239,927 (172)

Fibrinogen gene mutations accounting for congenital afibrinogenemia

, 2001
This article reviews recent progress made in understanding the molecular basis of congenital afibrinogenemia, an autosomal recessive coagulation disorder characterized by the complete absence of detectable fibrinogen.
Neerman Arbez, Marguerite
core   +1 more source

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family

Hereditas
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected
Xiaoying Xie, Juan Du, Shunkang Geng, Baoqin Yi, Qingpu Li, Jiangcheng Zuo   +5 more
doaj   +1 more source

Treatment of Congenital Afibrinogenemia in a Neonate With Critical Pulmonary Stenosis. [PDF]

J Pediatr Pharmacol Ther, 2023
Parikh P, Diep K, Balasa V, Lucas TL.
europepmc   +1 more source

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia

, 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

Early Diagnosis and Management of Congenital Afibrinogenemia: A Case Report of Umbilical Stump Bleeding. [PDF]

Cureus, 2023
Salah QM, AlRashayda RR, Heresh MJ, Abulehya A, Salah Al-Deen LW.   +4 more
europepmc   +1 more source

Geographic variation and localised clustering of congenital anomalies in Great Britain [PDF]

, 2007
Background Environmental pollution as a cause of congenital anomalies is sometimes suspected because of clustering of anomalies in areas of higher exposure.
Grundy C, Wellesley, D, Loane, M, Dolk Helen, Rankin Judith, Loane Maria, Rankin, Judith, Stone David, Loane M, Wellesley, D., Stone, D, Abramsky L, Stone, David, Pattenden, S., Armstrong, B.G., Dunn, C.E., Pattenden S, Armstrong BG, Armstrong, Ben G, Dolk, H, Dolk, H., Armstrong Ben G, Grundy, C., Boyd Patricia A, Boyd, Patricia A, Armstrong, B, Rankin, J., Boyd, P, Dunn, Chris E, Dunn CE, Loane, M., Wellesley, Diana, Boyd PA, Vrijheid, M., Stone, D., Grundy Chris, Vrijheid Martine, Dolk H, Abramsky, L, Stone D, Abramsky, Lenore, Abramsky Lenore, Vrijheid M, Grundy, C, Vrijheid, Martine, Grundy, Chris, Dolk, Helen, Boyd, P.A., Pattenden Sam, Wellesley Diana, Pattenden, Sam, Wellesley D, Dunn Chris E, Abramsky, L., Dunn, C, Pattenden, S, Boyd, P., Loane, Maria, Rankin J, Rankin, J   +59 more
core   +1 more source

Endovascular Treatment for Lower-extremity Arterial Thrombosis in a Patient with Congenital Afibrinogenemia and a History of Bleeding Complications. [PDF]

Intern Med, 2022
Hiramatsu D, Ogihara Y, Matsumoto T, Sato K, Takasaki A, Kurita T, Okamoto R, Wada H, Dohi K.   +8 more
europepmc   +1 more source

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

, 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

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family

, 2011
Congenital afibrinogenemia is a rare autosomal recessive coagulation disorder characterized essentially by bleeding symptoms, but miscarriages and, paradoxically, thromboembolic events can also occur.
Emmanuel Levrat, Imad Aboukhamis, Aboukhamis, Imad, Guido Reber, Philippe de Moerloose, Marguerite Neerman-Arbez, Reber, Guido, Neerman Arbez, Marguerite, Alexandre Fort, Chamaa, Sahar, Sahar Chamaa, Fort, Alexandre, De Moerloose, Philippe, Levrat, Emmanuel, Farho, Jaafar, Jaafar Farho   +15 more
core   +1 more source