解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is a common, highly heritable neurobehavioral disorder of childhood onset, characterized by hyperactivity, impulsivity, and/or inattention. As part of an ongoing study of the genetic etiology of ADHD, we have performed a genomewide linkage scan in 204 nuclea...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/375139
更新日期:2003-05-01 00:00:00
abstract::There is an inverse relationship between serum bilirubin concentrations and risk of coronary artery disease. The strength of the association is similar to that of smoking, systolic blood pressure, and HDL cholesterol. We carried out a genomewide scan in a Framingham Heart Study. Our study sample consisted of 330 famil...
journal_title:American journal of human genetics
pub_type: 杂志文章,多中心研究
doi:10.1086/373964
更新日期:2003-04-01 00:00:00
abstract::We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 codi...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/373965
更新日期:2003-04-01 00:00:00
abstract::We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. This alteration, located at base pair 6 of the intron 20 donor splice site, is present on >99.5% of FD chromosomes and results in ti...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/368263
更新日期:2003-03-01 00:00:00
abstract::Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of prostate cancer. To confirm these findings, we analyzed genome scan data from 161 pedigrees affected with prostate cancer. Using the Gleason score as a quantitative measure of tumor aggressivenes...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/368230
更新日期:2003-03-01 00:00:00
abstract::Helicobacter pylori is considered the most prevalent infectious agent among humans, and it causes gastric inflammation, gastroduodenal ulcers, and a risk of gastric cancer. We performed a genomewide linkage analysis among Senegalese siblings phenotyped for H. pylori-reactive serum immunoglobulin G. A multipoint LOD sc...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/367714
更新日期:2003-02-01 00:00:00
abstract::Timely molecular diagnosis of RB1 mutations enables earlier treatment, lower risk, and better health outcomes for patients with retinoblastoma; empowers families to make informed family-planning decisions; and costs less than conventional surveillance. However, complexity has hindered clinical implementation of molecu...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/345651
更新日期:2003-02-01 00:00:00
abstract::Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions and signaling molecules. These channels consist of connexin family proteins that allow for diversity of channel composition and conductance properties. The human ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/346090
更新日期:2003-02-01 00:00:00
abstract::Low bone mineral density (BMD) is a major risk factor for osteoporotic fracture. Studies of BMD in families and twins have shown that this trait is under strong genetic control. To identify regions of the genome that contain quantitative trait loci (QTL) for BMD, we performed independent genomewide screens, using two ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/345819
更新日期:2003-01-01 00:00:00
abstract::Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut. The seemingly unrelated multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Yet, germline mutat...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/345466
更新日期:2003-01-01 00:00:00
abstract::Bulimia nervosa (BN) is strongly familial, and additive genetic effects appear to contribute substantially to the observed familiality. In turn, behavioral components of BN, such as self-induced vomiting, are reliably measured and heritable. To identify regions of the genome harboring genetic variants conferring susce...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/345801
更新日期:2003-01-01 00:00:00
abstract::Knowledge of the number of causative loci is necessary to estimate the power of mapping studies of complex diseases. In the present article, we reexamine a theory developed by Risch and its implications for estimating the number L of causative loci affecting a complex inherited disease. We first show that methods base...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/344779
更新日期:2002-12-01 00:00:00
abstract::Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE). The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmis...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/344531
更新日期:2002-12-01 00:00:00
abstract::We performed a genomewide linkage analysis of six separate measurements of body mass index (BMI) taken over a span of 28 years, from 1971 to 1998, in the Framingham Heart Study. Variance-components linkage analysis was performed on 330 families, using 401 polymorphic markers. The number of individuals with data at eac...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/343822
更新日期:2002-11-01 00:00:00
abstract::Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed behavioral disorder in childhood and likely represents an extreme of normal behavior. ADHD significantly impacts learning in school-age children and leads to impaired functioning throughout the life span. There is strong evidence for a gene...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/342732
更新日期:2002-10-01 00:00:00
abstract::Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous RYR1 mutations have been recentl...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/342719
更新日期:2002-10-01 00:00:00
abstract::Patients with a strong family history of breast cancer are often counseled to receive genetic screening for BRCA1 and BRCA2 mutations, the strongest known predictors of breast cancer. A major limitation of genetic testing is the number of inconclusive results due to unclassified BRCA1 and BRCA2 sequence variants. Many...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/342192
更新日期:2002-09-01 00:00:00
abstract::Adolescent idiopathic scoliosis (AIS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/341607
更新日期:2002-08-01 00:00:00
abstract::The Ta (transcribed, subset a) subfamily of L1 LINEs (long interspersed elements) is characterized by a 3-bp ACA sequence in the 3' untranslated region and contains approximately 520 members in the human genome. Here, we have extracted 468 Ta L1Hs (L1 human specific) elements from the draft human genomic sequence and ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/341718
更新日期:2002-08-01 00:00:00
abstract::In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed w...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/341327
更新日期:2002-07-01 00:00:00
abstract::Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that is characterized, in male patients, by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological hand aspects exhibited by patients are essential clues for the diag...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/340607
更新日期:2002-06-01 00:00:00
abstract::X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively. However, mutations in the respective genes, RP2 a...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/340848
更新日期:2002-06-01 00:00:00
abstract::At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activate cryptic splice-d...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/340604
更新日期:2002-06-01 00:00:00
abstract::Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339986
更新日期:2002-05-01 00:00:00
abstract::Obesity is an increasingly serious health problem in the world. Body mass index (BMI), percentage fat mass, and body fat mass are important indices of obesity. For a sample of pedigrees that contains >10,000 relative pairs (including 1,249 sib pairs) that are useful for linkage analyses, we performed a whole-genome li...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339934
更新日期:2002-05-01 00:00:00
abstract::The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital malformations. Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/...
journal_title:American journal of human genetics
pub_type: 杂志文章,评审
doi:10.1086/340363
更新日期:2002-05-01 00:00:00
abstract::Sensorineural deafness and retinitis pigmentosa (RP) are the hallmarks of Usher syndrome (USH) but are also prominent features in peroxisomal biogenesis defects (PBDs); both are autosomal recessively inherited. The firstborn son of unrelated parents, who both had sensorineural deafness and RP diagnosed as USH, present...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339766
更新日期:2002-04-01 00:00:00
abstract::A genome scan of the hoarding phenotype (a component of obsessive-compulsive disorder) was conducted on 77 sib pairs collected by the Tourette Syndrome Association International Consortium for Genetics (TSAICG). All sib pairs were concordant for a diagnosis of Gilles de la Tourette syndrome (GTS). However, the analyse...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339520
更新日期:2002-04-01 00:00:00
abstract::Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder. Approximately 80% of patients with MLIV are of Ashkenazi Jewish (AJ) descent, and two mutations, IVS3-2A-->G and 511del6434, account for >95% of the mutant alleles in this populati...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339519
更新日期:2002-04-01 00:00:00
abstract::We present methods for linkage and association mapping of quantitative traits for a founder population with a large, known genealogy. We detect linkage to quantitative-trait loci (QTLs) through a multipoint homozygosity-mapping method. We propose two association methods, one of which is single point and uses a general...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339705
更新日期:2002-04-01 00:00:00
abstract::We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. The A140V mutation was found in all affected males and all carrier females i...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339553
更新日期:2002-04-01 00:00:00
abstract::Hereditary gingival fibromatosis (HGF) is a rare, autosomal dominant form of gingival overgrowth. Affected individuals have a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. Genetic loci for autosomal dominant forms of HGF have been localized to chromosome 2p21-p22 (HGF1...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339689
更新日期:2002-04-01 00:00:00
abstract::Although intensive efforts have been undertaken to elucidate the genetic background of immunoglobulin A nephropathy (IgAN), genetic factors associated with the pathogenesis of this disease are still not well understood. We designed a case-control association study that was based on linkage disequilibrium among single-...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/339077
更新日期:2002-03-01 00:00:00
abstract::Microsatellites are a major type of molecular markers in genetics studies. Their mutational dynamics are not clear. We investigated the patterns and characteristics of 97 mutation events unambiguously identified, from 53 multigenerational pedigrees with 630 subjects, at 362 autosomal dinucleotide microsatellite loci. ...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338997
更新日期:2002-03-01 00:00:00
abstract::The common 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism causes decreased activity of this enzyme and can be associated with mild-to-moderate hyperhomocysteinemia in homozygotes, particularly when there is folic acid deficiency, as well as with vascular dementia, arterial thrombosis, venous throm...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338932
更新日期:2002-03-01 00:00:00
abstract::Some genes that affect development and behavior in mammals are known to be imprinted; and > or = 1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recent...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338931
更新日期:2002-03-01 00:00:00
abstract::Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively. The first reported patient with a genetic cyto...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338625
更新日期:2002-02-01 00:00:00
abstract::Paget disease of bone (PDB) is characterized by increased osteoclast activity and localized abnormal bone remodeling. PDB has a significant genetic component, with evidence of linkage to chromosomes 6p21.3 (PDB1) and 18q21-22 (PDB2) in some pedigrees. There is evidence of genetic heterogeneity, with other pedigrees sh...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338658
更新日期:2002-02-01 00:00:00
abstract::Suppose that many polymorphic sites have been identified and genotyped in a region showing strong linkage with a trait. A key question of interest is which site (or combination of sites) in the region influences susceptibility to the trait. We have developed a novel statistical approach to this problem, in the context...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338660
更新日期:2002-02-01 00:00:00
abstract::Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodact...
journal_title:American journal of human genetics
pub_type: 杂志文章
doi:10.1086/338921
更新日期:2002-02-01 00:00:00