Consanguinity and Inbreeding in Health and Disease in North African Populations
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 20, 2019 (2019)
期刊
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 20, 2019
卷 20, 期 -, 页码 155-179出版社
ANNUAL REVIEWS
关键词
作者
我是这篇论文的作者
推荐
Genetic Diversity of Creole Sheep Managed by Indigenous Communities of the Central Region of Veracruz, Mexico
Ruth Guadalupe Castillo-Rodriguez, Obdulia Lourdes Segura-Leon, Martha Hernandez-Rodriguez, Ricardo Serna-Lagunes, Josafhat Salinas-Ruiz, Juan Salazar-Ortiz
ANIMALS (2022)
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability
Hammad Yousaf, Shagufta Rehmat, Muhammad Jameel, Rabab Ibrahim, Sohana Nadeem Hashmi, Ehtisham Ul Haq Makhdoom, Justyna Iwaszkiewicz, Saadia Maryam Saadi, Muhammad Tariq, Shahid M. Baig, Mathias Toft, Ambrin Fatima, Zafar Iqbal
CLINICAL GENETICS (2023)
An Amish founder population reveals rare-population genetic determinants of the human lipidome
May E. Montasser, Stella Aslibekyan, Vinodh Srinivasasainagendra, Hemant K. Tiwari, Amit Patki, Minoo Bagheri, Tobias Kind, Dinesh Kumar Barupal, Sili Fan, James Perry, Kathleen A. Ryan, Alan R. Shuldiner, Donna K. Arnett, Amber L. Beitelshees, Marguerite Ryan Irvin, Jeffrey R. O'Connell
COMMUNICATIONS BIOLOGY (2022)
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova
FRONTIERS IN MEDICINE (2023)
Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy
Ren-Juan Shen, Jun-Gang Wang, Yang Li, Zi-Bing Jin
ORPHANET JOURNAL OF RARE DISEASES (2021)
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanidir, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan-Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner
MOLECULAR GENETICS & GENOMIC MEDICINE (2022)
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries
Abdullah Al Mutery, Mona Mahfood, Jihen Chouchen, Abdelaziz Tlili
HUMAN GENETICS (2022)
Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula
Dalal A. Al-Mutairi, Basel H. Alsabah, Bashar A. Alkhaledi, Petra Pennekamp, Heymut Omran
FRONTIERS IN GENETICS (2022)
Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats
Ansar El Andari, Mira Khazouh, Issam Mansour
MOLECULAR GENETICS & GENOMIC MEDICINE (2023)
Differences in Age at Onset of Symptoms, and Effects of Genetic Variants, in Patients With Early vs Late-Onset Idiopathic Chronic Pancreatitis in a North American Cohort
Michele D. Lewis, Jyothsna Talluri, C. Mel Wilcox, Judah N. Abberbock, Gong Tang, Darwin L. Conwell, Peter A. Banks, Gregory A. Cote, Stuart Sherman, Samer Alkaade, Timothy B. Gardner, Michelle A. Anderson, Bimaljit S. Sandhu, Thiruvengadam Muniraj, Chris E. Forsmark, Nalini Guda, Andres Gelrud, Joseph Romagnuolo, Randall Brand, Jessica LaRusch, Stephen T. Amann, Adam Slivka, David C. Whitcomb, Dhiraj Yadav
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2021)
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century
Shamam Waldman, Daniel Backenroth, Eadaoin Harney, Stefan Flohr, Nadia C. Neff, Gina M. Buckley, Hila Fridman, Ali Akbari, Nadin Rohland, Swapan Mallick, Inigo Olalde, Leo Cooper, Ariel Lomes, Joshua Lipson, Jorge Cano Nistal, Jin Yu, Nir Barzilai, Inga Peter, Gil Atzmon, Harry Ostrer, Todd Lencz, Yosef E. Maruvka, Maike Lammerhirt, Alexander Beider, Leonard Rutgers, Virginie Renson, Keith M. Prufer, Stephan Schiffels, Harald Ringbauer, Karin Sczech, Shai Carmi, David Reich
CELL (2022)
Genetics of Inborn Errors of Immunity in highly consanguineous Middle Eastern and North African populations
Hamoud Al-Mousa, Mohamed-Ridha Barbouche
SEMINARS IN IMMUNOLOGY (2023)
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population
Xianze Luo, Qing Liu, Jinqiu Jiang, Wenjing Tang, Yuan Ding, Lina Zhou, Jie Yu, Xuemei Tang, Yunfei An, Xiaodong Zhao
FRONTIERS IN IMMUNOLOGY (2021)
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity
Leila Youssefian, Amir Hossein Saeidian, Fahimeh Palizban, Atefeh Bagherieh, Fahimeh Abdollahimajd, Soheila Sotoudeh, Nikoo Mozafari, Rahele A. Farahani, Hamidreza Mahmoudi, Sadegh Babashah, Masoud Zabihi, Sirous Zeinali, Paolo Fortina, Julio C. Salas-Alanis, Andrew P. South, Hassan Vahidnezhad, Jouni Uitto
CLINICAL CHEMISTRY (2021)
Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs
Dalal A. Al-Mutairi, Basel H. Alsabah, Petra Pennekamp, Heymut Omran
JOURNAL OF CLINICAL MEDICINE (2023)
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder
Khaoula Rochdi, Mathieu Cerino, Nathalie Da Silva, Valerie Delague, Aymane Bouzidi, Halima Nahili, Ghizlane Zouiri, Yamna Kriouile, Svetlana Gorokhova, Marc Bartoli, Rachid Saile, Abdelhamid Barakat, Martin Krahn
CLINICA CHIMICA ACTA (2022)
Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis
Hamza Dallali, Meriem Hechmi, Imane Morjane, Sahar Elouej, Haifa Jmel, Yosra Ben Halima, Abdelmajid Abid, Afef Bahlous, Abdelhamid Barakat, Henda Jamoussi, Sonia Abdelhak, Rym Kefi
DIABETOLOGY & METABOLIC SYNDROME (2022)
A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
Al Mehdi Krami, Aymane Bouzidi, Majida Charif, Ghita Amalou, Hicham Charoute, Hassan Rouba, Rachida Roky, Guy Lenaers, Abdelhamid Barakat, Halima Nahili
EUROPEAN JOURNAL OF MEDICAL GENETICS (2022)
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco
Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat
MOLECULAR BIOLOGY REPORTS (2022)
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment
Meriem Hechmi, Majida Charif, Ichraf Kraoua, Meriem Fassatoui, Hamza Dallali, Valerie Desquiret-Dumas, Celine Bris, David Goudenege, Cyrine Drissi, Said Galai, Slah Ouerhani, Vincent Procaccio, Patrizia Amati-Bonneau, Sonia Abdelhak, Ilhem Ben Youssef-Turki, Guy Lenaers, Rym Kefi
BIOSCIENCE REPORTS (2022)
Association between epidemiological and clinico-pathological features of breast cancer with prognosis, family history, Ki-67 proliferation index and survival in Tunisian breast cancer patients
Najah Mighri, Nesrine Mejri, Maroua Boujemaa, Yosra Berrazega, Haifa Rachdi, Houda El Benna, Soumaya Labidi, Farouk Benna, Samir Boubaker, Hamouda Boussen, Sonia Abdelhak, Yosr Hamdi
PLOS ONE (2022)
Computational study of the potential impact of AURKC missense SNPs on AURKC-INCENP interaction and their correlation to macrozoospermia
Salaheddine Redouane, Hicham Charoute, Houda Harmak, Abderrahim Malki, Abdelhamid Barakat, Hassan Rouba
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS (2023)
Genetic Association of LEP Gene Polymorphisms with Obesity in Moroccan Individuals: Case-Control Study and Updated Meta-analysis
Hind Bouafi, Al Mehdi Krami, Imane Morjane, Kenza Slaoui, Houda Harmak, Hicham Charoute, Rachid Saile, Abdelhamid Barakat
BIOCHEMICAL GENETICS (2023)
In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility
Houda Harmak, Salaheddine Redouane, Hicham Charoute, Ouafaa Aniq Filali, Abdelhamid Barakat, Hassan Rouba
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS (2023)
A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
C. Ait El Cadi, L. Dafrallah, G. Amalou, M. Charif, H. Charoute, A. Araqi-Houssaini, H. Lakhiari, G. Lenaers, A. Barakat
REVUE NEUROLOGIQUE (2023)
First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation
Najlaa Khalat, Olfa Messaoud, Mariem Ben Rekaya, Mariem Chargui, Mohamed Zghal, Bashir Zendah, Najat Saqer, Mourad Mokni, Sonia Abdelhak, Othman A. Mohamed
MOLECULAR GENETICS & GENOMIC MEDICINE (2023)
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
Imane AitRaise, Ghita Amalou, Amina Bakhchane, Amale Bousfiha, Houria Abdelghaffar, Charif Majida, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
BIOCHEMICAL GENETICS (2023)
Novel pathogenic WHRN variant causing hearing loss in a moroccan family
Imane Aitraise, Ghita Amalou, Salaheddine Redouane, Hicham Charoute, Khalid Snoussi, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Abdelhamid Barakat
MOLECULAR BIOLOGY REPORTS (2023)
Prevalence and risk factors of diabetes mellitus and hypertension in North East Tunisia calling for efficient and effective actions
Nadia Kheriji, Thouraya Dakhlaoui, Wafa Kamoun Rebai, Sonia Maatoug, Mohamed Taher Thabet, Thouraya Mellah, Mehdi Mrad, Hajer Trabelsi, Manel Soltani, Maria Kabbage, Hichem Ben Hassine, Afef Hadj Salah Bahlous, Faten Mahjoub, Henda Jamoussi, Abdelmajid Abid, Sonia Abdelhak, Rym Kefi
SCIENTIFIC REPORTS (2023)
Syndromic Hearing Loss in Moroccan families is associated to homozygous missense variants in COL4A3 and MASP1
Ghita Amalou, Imane Aitraise, Aymane Bouzidi, Soukaina Essadssi, Majida Charif, Mostafa Kandil, Sophie Boucher, Guy Lenaers, Abdelhamid Barakat
HUMAN GENE (2022)