Familial相关论文
Intelligence Quotient in children with familial Generalized Tonic-Clonic Seizures and in their sibli
Background:It is well known that recurrent epileptic seizures will affect cognitive function in children,but it is uncle......
...
...
Progressive familial intrahepatic cholestasis—farnesoid X receptor deficiency due to NR1H4 mutation:
BACKGROUND Functioning farnesoid X receptor(FXR;encoded by NR1H4)is key to normal bile acid homeostasis.Biallelic mutati......
BACKGROUND Familial hemophagocytic lymphohistiocytosis(FHL)is a primary immunodeficiency disease caused by gene defects.......
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate:A case report and rev
BACKGROUND Familial hemophagocytic lymphohistiocytosis type 2(FHL2)is a rare genetic disorder presenting with fever,hepa......
Dysfunction of autophagy as the pathological mechanism of motor neuron disease based on a patient-sp
Autophagy is the main catabolic pathway in cells for the degradation of impaired proteins and organelles. Accumulating e......
Coexistence of Crohn’s disease(CD) and familial Mediterranean fever(FMF) is a rare condition and knowledge about this c......
AIM:To investigate differences of clinical characteristics and disease courses between familial and sporadic inflammator......
Genotyping is conclusive for the diagnosis of progressive familial intrahepatic cholestasis type 3(PFIC3). Here we repor......
Irritable bowel syndrome(IBS) is the most common functional gastrointestinal disorder characterized by presence of abdom......
In the Western world, nonalcoholic fatty liver disease(NAFLD) is considered as one of the most significant liver disease......
Dear Editor.Meniere's disease(MD,MIM 156000),a chronic clinical illness affecting the inner ear,presents as episodes......
Destruction of the lung parenchyma may result in the formation of cysts,cavities and bullae.Definition of the type of de......
The processes of lung fibrogenesis and fibrotic healing are common to a number of conditions with different etiologies. ......
De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneu
The familiar amyloid polyneuropathy(FAP) is a rare autosomal-dominant systemic amyloidosis. Amyloid deposition occurs mo......
作者调查了8个家庭15例甲状腺功能正常病人,发现一种最近才认识的综合征——“家族性白蛋白异常性高甲状腺素血症”(familial dys......
Eight hundred and ten pedigree members of 110 patients with Graves’ disease were studied. In 700 first-egree relatives......
血栓性血小板减少性紫癜(TTP)在儿童病例中甚为少见,但如未能及时诊断及施予治疗,其后果则极为严重。其最常见之5种病症为:血小板......
1 INTRODUCTIONThe term “hyperparathyroidism”refers tometabolic derangement owing to increased productionof the parath......
AIM:To determine the frequencies of diagnoses confirmed by liver biopsy in infants with cholestasis in an Iranian pediat......
目的 探讨聚合酶链反应 -单链构象多态性分析 (polymerase chain reaction- single strainconformation polymorphism,PCR- SSCP)......
.15·7 .1 Protein,earbohydrate and lipid metabolism.ratio of PI/(Pl+Tl)were signifieantly higher in rype ID入4patients a......
Gullo’s syndrome is a newly identified condition characterized by a chronic elevation of pancreatic amylase and/or lipa......
AIM: To characterize clinical, laboratorial, and histological profile of pediatric autoimmune gastritis in the setting o......
Various pathological conditions can cause fatty liver in children. Nonalcoholic steatohepatitis(NASH) in children has be......
Mesenteric fibromatosis is a rare benign nonmetastatic neoplasm that appears as a sporadic lesion or occurs in patients ......
Liver transplantation and the management of progressive familial intrahepatic cholestasis in childre
Progressive familial intrahepatic cholestasis(PFIC) is a constellation of inherited disorders that result in the impairm......
2004460 Study of plasma acylation-stimulating protein in diabetic and coronary heart disease patients. LU Huiling (卢慧......
Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during tr
AIM: To investigate the relationship between mutations of rearranged during transfection (RET) proto-oncogene and Chines......
AIM To investigate the relation of two different mutations to the outcome of partial external biliary diversion(PEBD)in ......
The clinical findings frequently presented in trisomy 4q syndrome including mental retardation, developmental delay and ......
Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex di
Background Mutations in the hepatocyte nuclear factor-1A gene cause the type 3 form of maturity-onset diabetes of the yo......
Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chin
Background Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels ofplasma ......
Like Iliad, Odyssey, Old Testament, Mahabharata,Ramayana, Collection of Ten Thousand Leaves and other classics, The Book......
Atarrirahly ftihbmriilala twioitnh (deAbFili)ta tiisn gth ceo mmpolsit-c caotimonmso onf cstarrodkiea·c Multiple-wavele......
Purpose:To investigate the clinical and hereditary features of a Chinese Han pedigree with familial vitreous amyloidosis......
A novel mitochondrial tRNA gene mutation in a chinese family with dilated cardiomyopathy and sensori
Objective: To determine whether a mutation of mitochondrial DNA induces familial dilated cardiomyopathy in Chinese famil......
Dysbetalipoproteinemia is a rare familial dyslipidemia characterized by approximately equally elevated serum cholesterol......
Ectopic mineralization- inappropriate biomineralization in soft tissues- is a frequent finding in physiological aging pr......
Cardiac magnetic resonance imaging(CMRI) has emerged as a useful tertiary imaging tool in the investigation of patients ......
INTRODUCTIONGenetic instability is a conunon property of manyhuman cancers,including those of HNPCC.A novel form of gen......
Atherosclerotic coronary artery disease(CAD) comprises a broad spectrum of clinical entities that include asymptomatic s......
Analysis of cardiac troponin C gene TNNC1 c. G175C mutation in a Chinese pedigree with familial hype
Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing......
In this mini-review several commonly used animal models of atherosclerosis have been discussed.Among them,emphasis has b......
家族性腺瘤性息肉 (familial ademomatous polyposis,FAP) ,原名家族性多发性息肉 ,是一种少见的常染色体显性遗传性疾病 ,现报告......
家族性少年肾单位肾病(familial juvenilenephronophthisis)为肾脏髓质囊性病之一型。为常染色体隐性遗传,临床罕见。现将我院遇......
AIM:To explore the mode of inheritance of hepatocellularcarcinoma (HCC) in a moderately high-incidence area ofEast Chin......
