Hardy-Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases [0.03%]
ADHD病例父母群体DRD4基因III外显子的48 bpVNTR多态性的Hardy-Wienber平衡分析
Salvador Trejo,José J Toscano-Flores,Esmeralda Matute et al.
Salvador Trejo et al.
The aim of this study was to obtain the genotype and gene frequency from parents of children with attention-deficit/hyperactivity disorder (ADHD) and then assess the Hardy-Weinberg equilibrium of genotype frequency of the variable number ta...
Bülent Hacıhamdioğlu,Duygu Hacıhamdioğlu,Kenan Delil
Bülent Hacıhamdioğlu
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during no...
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis [0.03%]
X染色体连锁肾上腺脑白质营养不良的遗传特征：遗传、突变、修饰基因和诊断
Christoph Wiesinger,Florian S Eichler,Johannes Berger
Christoph Wiesinger
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence derived from different populations in order to provide an overview of t...
The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management [0.03%]
家族性腺瘤性息肉病的遗传基础及其对临床实践和风险管理的意义
Maria Liz Leoz,Sabela Carballal,Leticia Moreira et al.
Maria Liz Leoz et al.
Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studi...
Tori L Schaefer,Matthew H Davenport,Craig A Erickson
Tori L Schaefer
Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability and autism spectrum disorder. Caused by a silenced fragile X mental retardation 1 gene and the subsequent deficiency in fragile X mental retardation pr...
Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion [0.03%]
Menin框内缺失的多发性内分泌腺瘤病1型患者中发现的一种新的颗粒细胞瘤恶性表现：双侧颗粒细胞肿瘤
Michael J Hall,Julie Innocent,Christina Rybak et al.
Michael J Hall et al.
Introduction: Multiple endocrine neoplasia 1 (MEN1) is a cancer syndrome resulting from mutations of the MEN1 gene. The syndrome is characterized by neoplasia of the parathyroid and pituitary glands, and malignant tumors ...
Stéphanie Guey,Elisabeth Tournier-Lasserve,Dominique Hervé et al.
Stéphanie Guey et al.
Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in childre...
Robert J Pignolo,Girish Ramaswamy,John T Fong et al.
Robert J Pignolo et al.
Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulat...
Anja Vogt
Anja Vogt
Familial hypercholesterolemia (FH) results in very high levels of atherogenic low-density lipoprotein (LDL) cholesterol from the time of birth. Mutations of the genes encoding for the LDL receptor, apolipoprotein B and proprotein convertase...
Raelia M Lew,Leslie Burnett,Anné L Proos et al.
Raelia M Lew et al.
Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-base...