TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Autor: Faouzi Maazoul, Wided Kelmemi, S. Echebbi, Ridha Mrad, Nadia Ben Ali, Lilia Kraoua, Marwa Daghsni, Mohamed Kacem Ben Fradj, Saida Lahbib, Sonia Abdelhak, Mariem Kchaou, Marwa Sayeb

Publikováno v: Cytogenetic and Genome Research. 154:1-5

Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f78e7553d0bb18a5346c9a6decc82edc
https://doi.org/10.1159/000486945

Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity

Autor: Habiba Chaabouni-Bouhamed, Wided Kelmemi, Marieke Teeuw, Maher Kharrat, Leo P. ten Kate, Marianne A. Jonker

Publikováno v: Human Heredity, 80(2), 69-78. S. Karger AG
Jonker, M A, Teeuw, M E, Kelmemi, W, Kharrat, M, Chaabouni-Bouhamed, H & ten Kate, L P 2015, ' Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity ', Human Heredity, vol. 80, no. 2, pp. 69-78 . https://doi.org/10.1159/000438862

Objective Estimating the total allele frequency of all pathogenic alleles of an autosomal recessive disease is not possible if only mutational data of a sample of affected individuals are available. However, if the affected individuals come from a po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a56d48efa78185b1936f082203b6d83
https://doi.org/10.1159/000438862

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

Autor: Peter Heutink, Fowzan S. Alkuraya, Eamonn Sheridan, Lidewij Henneman, Martina C. Cornel, Piet J. Kostense, A. van Haeringen, Patrizia Rizzu, Wided Kelmemi, Jan-Maarten Cobben, Amira Masri, M. Hashem, Hülya Kayserili, Zoltán Bochdanovits, Charlotte J. Dommering, Sander Ouburg, Marieke Teeuw, Marianne A. Jonker, L. P. ten Kate, H. Bouhamed-Chaabouni

Publikováno v: Kelmemi, W, Teeuw, M E, Bochdanovits, Z, Ouburg, S, Jonker, M A, Alkuraya, F, Hashem, M, Kayserili, H, van Haeringen, A, Sheridan, E, Masri, A, Cobben, J M, Rizzu, P, Kostense, P J, Dommering, C J, Henneman, L, Bouhamed-Chaabouni, H, Heutink, P, ten Kate, L P & Cornel, M C 2015, ' Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome ', BMC Medical Genetics, vol. 16, 50 . https://doi.org/10.1186/s12881-015-0191-0
BMC Medical Genetics, 16:50. BioMed Central
BMC medical genetics 16(1), 50 (2015). doi:10.1186/s12881-015-0191-0
BMC medical genetics, 16(1). BioMed Central
BMC Medical Genetics
BMC Medical Genetics, 16

Offspring of consanguineous couples are at increased risk of congenital disorders. The risk increases as parents are more closely related. Individuals that have the same degree of relatedness according to their pedigree, show variable genomic kinship

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be1eec32d5a333f92bac57d08e74873
https://research.vu.nl/en/publications/a11d44ba-b8ef-426c-bbb5-d951bf8d5b1a