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First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt:early onset and high consanguinity: 《Frontiers of Medicine》2024年第6期1115-1118,共4页Nabila Hamdi Kathrin Mueller Amr Hamza Radwa Soliman Enass Onbool Kareem Omran Omnia Ocab Axel Freischmidt Reiner Siebert Albert Ludolph Nagia Fahmy; Dear Editor,Significant progress has been made in understanding the genetics of amyotrophic lateral sclerosis(ALS),particularly in European populations.However,a substantial proportion of familial ALS(fALS)cases remai...; 关键词：amyotrophic FAMILIAL DEGENERATION

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141,DDHD2,and LHFPL5被引量：1: 《Frontiers of Medicine》2024年第1期81-97,共17页Liwei Sun Xueting Yang Amjad Khan Xue Yu Han Zhang Shirui Han Xiaerbati Habulieti Yang Sun Rongrong Wang Xue Zhang; supported by the National Natural Science Foundation of China(NSFC)(Nos.82001221 and 81788101);the National Key Research and Development Program of China(Nos.2022YFC2703900 and 2022YFC2703903);the CAMS Innovation Fund for Medical Sciences(CIFMS)(Nos.2021-I2M-1-018,2022-I2M-JB-004 and 2017-I2M-B&R-05).; Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine.Panoramic variation analysis is imperative to analyze the disease phenotypes resul...; 关键词：neurodevelopmental disorder autosomal recessive intellectual DISABILITY CONSANGUINITY spastic paraplegia hearing loss TMEM141

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome: 《World Journal of Clinical Cases》2024年第3期503-516,共14页Wiem Manoubi Marwa Mahdouani Dorra Hmida Ameni Kdissa Aida Rouissi Ilhem Turki Neji Gueddiche Najla Soyah Ali Saad Christian Bouwkamp Ype Elgersma Soumaya Mougou-Zerelli Moez Gribaa; BACKGROUND Angelman syndrome(AS)is caused by maternal chromosomal deletions,imprinting defects,paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene mutations.However the gene...; 关键词：Angelman syndrome Ubiquitin-protein ligase E3A EXOME CONSANGUINITY POLYMORPHISM

Consanguinity and Occurrence of Genetic Disorders in District Attock: 《China-USA Business Review》2023年第1期20-27,共8页Ummara Rafi Sohail Hameed Naheed Malik Mariam Awan Shahid Baig Uzma Abdullah; Consanguineous marriages are the marriages between blood relatives;nevertheless,it can also be referred as unions between second cousins or closer by the geneticists.Consanguinity increases the risk of congenital anom...; 关键词：CONSANGUINITY NDM(Neuromuscular Disorder) MR(Mental Retardation) MICROCEPHALY EPILEPSY ICHTHYOSIS

Adaptive Transition of Traditional Handicraft Villages Under the Rule of Consanguinity Community:A Case Study of Xizhuang Village in Xinjiang County,Shanxi Province被引量：1: 《China City Planning Review》2022年第4期57-66,共10页Zhang Xing He Yi; a part of the Research on the Spatial Form and Protection of Traditional Villages in Ningshao Area Based on the Theory of“Society-Space”that is supported by the National Natural Sciences Fund(No.52078228)。; As an important witness to the rural industry in the agricultural era,traditional handicraft villages have attracted renewed attention in the contemporary context of intangible cultural heritage protection.The dual ch...; 关键词：traditional handicraft villages consanguinity community social relationship spatial form evolutionary characteristics Xizhuang Village

Children with lysinuric protein intolerance: Experience from a lower middle income country被引量：1: 《World Journal of Clinical Pediatrics》2022年第4期369-374,共6页Syed Bilal Hashmi Sibtain Ahmed; BACKGROUND Lysinuric protein intolerance(LPI)is an inborn error of metabolism consequential to recessive mutations in the SLC7A7 gene.The metabolic imbalance in absorption and excretion of dibasic amino acids is consi...; 关键词：Lysinuric protein intolerance CONSANGUINITY Pakistan Retrospective study

Epidemiological, Diagnostic and Therapeutic Aspects of Cardiogenic Shock in Children at the Albert Royer Children’s Hospital in Dakar: 《Open Journal of Pediatrics》2021年第4期669-675,共7页Mohameth Mbodj Amadou Lamine Fall Aliou Thiongane Ibrahima Diagne Amadou Sow Serigne T. Ndiaye Khadim Bop Papa S. Sow Ousmane Ndiaye; Introduction: The objective of this study was to evaluate the epidemiological, diagnostic and therapeutic aspects of cardiogenic sho...; 关键词：Heart Disease CONSANGUINITY CMDH Shortening Fraction Senegal

Risk factors in patients with type 2 diabetes in Bengaluru: A retrospective study被引量：1: 《World Journal of Diabetes》2019年第4期241-248,共8页Jagadeesha Aravinda; BACKGROUND Risk factors such as hereditary, ecological, and metabolic are interrelated and contribute to the development of type 2 diabetes mellitus. Family history(FH) of diabetes mellitus, age, obesity, and physical...; 关键词：Type 2 diabetess MELLITUS Young ONSET DIABETES Family history CONSANGUINITY DIABETES risk factors OBESITY

Effects of family history and consanguinity in primary immunodeficiency diseases in children in Qatar: 《Open Journal of Immunology》2013年第2期47-53,共7页Mohammad Ehlayel Abdulbari Bener Mohammad Abu Laban; Background: The high consanguinity in Middle East increases the risk of genetic diseases, including primary immunodeficiency diseases (PID). Objectives: This study was aimed at determining the rate of positive family ...; 关键词：PEDIATRIC Primary IMMUNODEFICIENCY DISEASES Family HISTORY CONSANGUINITY

Factors potentially affecting the function of kidney grafts: 《Chinese Medical Journal》2013年第9期1738-1742,共5页LIN Jun ZHENG Xin XIE Ze-lin SUN Wen ZHANG Lei TIAN Ye GUO Yu-wen; Background Donor and recipient risk factors on graft function have been well characterized. The contribution of demographic factors, such as age, gender, and other potential factors of donor and recipient at the time ...; 关键词：kidney transplantation GENDER age CONSANGUINITY

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