Results 1 to 10 of about 528,283 (301)

Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population [PDF]

Frontiers in Immunology, 2021
DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary immunodeficiency disease caused by mutations in LIG4. Patients suffer from a broad spectrum of clinical problems, including microcephaly, growth retardation, developmental ...
Xianze Luo, Xianze Luo, Xianze Luo, Xianze Luo, Qing Liu, Qing Liu, Qing Liu, Qing Liu, Jinqiu Jiang, Jinqiu Jiang, Jinqiu Jiang, Jinqiu Jiang, Wenjing Tang, Wenjing Tang, Wenjing Tang, Wenjing Tang, Wenjing Tang, Yuan Ding, Yuan Ding, Yuan Ding, Yuan Ding, Yuan Ding, Lina Zhou, Lina Zhou, Lina Zhou, Lina Zhou, Jie Yu, Jie Yu, Jie Yu, Jie Yu, Xuemei Tang, Xuemei Tang, Xuemei Tang, Xuemei Tang, Xuemei Tang, Yunfei An, Yunfei An, Yunfei An, Yunfei An, Yunfei An, Xiaodong Zhao, Xiaodong Zhao, Xiaodong Zhao, Xiaodong Zhao, Xiaodong Zhao   +44 more
doaj   +2 more sources

Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in MYD88 Gene: A Founder Effect? [PDF]

Life
MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe,
Roberta Romano, Francesca Cillo, Laura Grilli, Alessio Ciaccio, Lorenzo Bufalo, Elisabetta Toriello, Antonio De Rosa, Carmen Rosano, Emilia Cirillo, Giancarlo Blasio, Marika Comegna, Carmela Di Domenico, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino   +14 more
doaj   +2 more sources

Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration [PDF]

Brain Sciences, 2022
PLA2G6-associated neurodegeneration (PLAN) is a rare autosomal recessive disorder caused by PLA2G6 mutations. This study aimed to investigate the clinical characteristics and mutation spectrum of PLAN and to investigate the founder effects in Chinese ...
Hao-Ling Cheng, Yi-Jun Chen, Yan-Yan Xue, Zhi-Ying Wu, Hong-Fu Li, Ning Wang   +5 more
doaj   +2 more sources

RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily [PDF]

Medicina
Background and Objectives. Retinitis pigmentosa (RP) is the most common inherited rod–cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages.
Fabiana D’Esposito, Viviana Randazzo, Maria Igea Vega, Gabriella Esposito, Paolo Enrico Maltese, Salvatore Torregrossa, Paola Scibetta, Florinda Listì, Caterina Gagliano, Lucia Scalia, Antonino Pioppo, Antonio Marino, Marco Piergentili, Emanuele Malvone, Tiziana Fioretti, Angela Vitrano, Maria Piccione, Teresio Avitabile, Francesco Salvatore, Matteo Bertelli, Ciro Costagliola, Maria Francesca Cordeiro, Aurelio Maggio, Elena D’Alcamo   +23 more
doaj   +2 more sources

Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago [PDF]

Molecular Genetics & Genomic Medicine, 2022
Background Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF‐β/BMPs signaling pathway.
Anna Sbalchiero, Yasmin Abu Hweij, Tommaso Mazza, Elisabetta Buscarini, Claudia Scotti, Fabio Pagella, Guido Manfredi, Elina Matti, Giuseppe Spinozzi, Carla Olivieri   +9 more
doaj   +2 more sources

How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency [PDF]

International Journal of Hematology-Oncology and Stem Cell Research, 2020
Congenital factor XIII (FXIII) deficiency is an extremely rare bleeding disorder (RBD) with estimated prevalence of one per 2 million in the general population.
Hojat Shahraki, Akbar Dorgalaleh, Majid Fathi, Shadi Tabibian, Shahram Teimourian, Hasan Mollanoori, Alireza Khiabani, Farhad Zaker   +7 more
doaj   +2 more sources

Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali   +5 more
doaj   +2 more sources

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge [PDF]

Genetics and Molecular Biology, 2023
Oculocutaneous albinism (OCA) is a heterogeneous group of genetic disorders involving deficiencies in melanin biosynthesis, with consequent skin, hair, and eye hypopigmentation. The world prevalence is estimated at 1/17,000, but there is high variability
Paulyana Moura, Augusto César Cardoso-dos-Santos, Lavinia Schuler-Faccini   +2 more
doaj   +1 more source

Phenotypic expression and founder effect of PANK2 c.1583C>T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients [PDF]

Archives of Biological Sciences, 2019
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2
Svetel Marina, Hartig Monika, Cvetković Dragana, Beaubois Cyrielle, Maksić Jasmina, Novaković Ivana, Krajinović Maja, Kostić Vladimir   +7 more
doaj   +1 more source

Founder Effects in Hereditary Hemorrhagic Telangiectasia [PDF]

Journal of Clinical Medicine, 2021
A founder effect can result from the establishment of a new population by individuals from a larger population or bottleneck events. Certain alleles may be found at much higher frequencies because of genetic drift immediately after the founder event. We provide a systematic literature review of the sporadically reported founder effects in hereditary ...
Tamás Major, Réka Gindele, Gábor Balogh, Péter Bárdossy, Zsuzsanna Bereczky   +4 more
openaire   +2 more sources