Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Autor: Sarmiento Doncel S; Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia.; Life Sciences and Health Research Group, Graduates School, CES University, Medellin 050021, Colombia.; Doctoral School, Catholic University of Valencia San Vicente Mártir (UCV), 46002 Valencia, Spain., Peláez RG; Life Sciences and Health Research Group, Graduates School, CES University, Medellin 050021, Colombia., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France., Corrales-Medina FF; Division of Pediatric Hematology-Oncology, Department of Pediatrics, University of Miami-Miller School of Medicine, Miami, FL 33136, USA.; University of Miami-Hemophilia Treatment Center, Miami, FL 33136, USA., Díaz Mosquera GA; Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia., Bonanad S; Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain., Cortes JM; Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia., Cazalla M; Instituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain., Gallego N; Instituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France., Querol-Giner F; Physiotherapy in Motion Multispeciality Research Group (PTinMOTION), Department of Physiotherapy, University of Valencia, 46010 Valencia, Spain., Tenorio J; Instituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France.; BITGENETIC LAB, Qube Technology Park, Tres Cantos, 28460 Madrid, Spain., López Guerrero JA; Doctoral School, Catholic University of Valencia San Vicente Mártir (UCV), 46002 Valencia, Spain.; Department of Pathology, Medical School, Catholic University of Valencia, San Vicente Martir, 46010 Valencia, Spain.; Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, 46009 Valencia, Spain.

Publikováno v: Life (Basel, Switzerland) [Life (Basel)] 2024 Aug 21; Vol. 14 (8). Date of Electronic Publication: 2024 Aug 21.

Moderate haemophilia A: Recommendations from a Spanish panel of experts.

Autor: Álvarez Román MT; University Hospital La Paz, Madrid, Spain., Bonanad S; Hospital Universitari i Politècnic La Fe, València, Spain., Calvo Villas JM; University Hospital Miguel Servet, Zaragoza, Spain., López MF; A Coruña University Hospital Complex, A Coruña, Spain., Marco P; General University Hospital of Alicante, Alicante, Spain., Núñez R; University Hospital Virgen del Rocío, Sevilla, Spain., Benítez O; Vall d'Hebrón University Hospital, Barcelona, Spain., López-Jaime FJ; Regional University Hospital of Málaga, Málaga, Spain.

Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2024 Oct 20. Date of Electronic Publication: 2024 Oct 20.