Teaching human genetics in biochemistry by computer literature searching.

abstract：:X chromosome- and Y chromosome-specific DNA probes were used to study different aspects of the genesis of sex-chromosome monosomy. Using X-linked RFLPs, we studied the parental origin of the single X chromosome in 35 spontaneously aborted and five live-born 45,X conceptions. We determined the origin in 35 cases; 28 ha...

journal_title：American journal of human genetics

authors： Hassold T,Benham F,Leppert M

更新日期：1988-04-01 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

authors： Edelmann L,Dong J,Desnick RJ,Kornreich R

更新日期：2002-04-01 00:00:00

abstract：:In studying the relationship between genetic abnormalities of red blood cells and malaria endemicity in the Vanuatu archipelago in the southwestern Pacific, we have found that of 1,442 males tested, 98 (6.8%) were G6PD deficient. The prevalence of GdPD deficiency varied widely (0%-39%), both from one island to another...

journal_title：American journal of human genetics

authors： Ganczakowski M,Town M,Bowden DK,Vulliamy TJ,Kaneko A,Clegg JB,Weatherall DJ,Luzzatto L

更新日期：1995-01-01 00:00:00

abstract：:The effects of reproductive compensation on an X-linked recessive lethal are examined. Complete compensation without regard to the sex of the offspring increases the incidence of female carriers by a factor of 1.5, and of affected males by 1.33. However, if families reproduce until they have a healthy male offspring, ...

journal_title：American journal of human genetics

authors： Templeton AR,Yokoyama S

更新日期：1980-07-01 00:00:00

abstract：:The transmission/disequilibrium test (TDT) originally was introduced to test for linkage between a genetic marker and a disease-susceptibility locus, in the presence of association. Recently, the TDT has been used to test for association in the presence of linkage. The motivation for this is that linkage analysis typi...

journal_title：American journal of human genetics

authors： Martin ER,Kaplan NL,Weir BS

更新日期：1997-08-01 00:00:00

abstract：:To quantify the effect of the apolipoprotein (apo) E polymorphism on the magnitude of postprandial lipemia, we have defined its role in determining the response to a single high-fat meal in a large sample of (N = 474) individuals taking part in the biethnic Atherosclerosis Risk in Communities Study. The profile of pos...

journal_title：American journal of human genetics

authors： Boerwinkle E,Brown S,Sharrett AR,Heiss G,Patsch W

更新日期：1994-02-01 00:00:00

abstract：:Using the technique of in vitro human-hamster fertilization, sperm of four men heterozygous for 4 reciprocal translocations--t(4;17),t(5;13),t(6;7), and t(9;18)--was studied. Frequencies of numerical abnormalities unrelated to the translocations range from 8.3% to 13.3%, and the incidence of imbalances ranges from 23....

journal_title：American journal of human genetics

authors： Pellestor F,Sèle B,Jalbert H,Jalbert P

更新日期：1989-04-01 00:00:00

abstract：:The mutations in one-third of Duchenne and Becker muscular dystrophy patients remain unknown, as they do not involve gross rearrangements of the dystrophin gene. We now report a defect in the splicing of precursor mRNA (pre-mRNA), resulting from a maternally inherited mutation of the dystrophin gene in a patient with ...

journal_title：American journal of human genetics

authors： Hagiwara Y,Nishio H,Kitoh Y,Takeshima Y,Narita N,Wada H,Yokoyama M,Nakamura H,Matsuo M

更新日期：1994-01-01 00:00:00

abstract：:To investigate the molecular basis of phenylketonuria in Italy we applied the chemical cleavage method (CCM) on amplified DNA encompassing exons 7 and 8 of the phenylalanine hydroxylase gene. These exons are in a region likely to be involved in enzyme function. Using this approach, we could simultaneously screen for n...

journal_title：American journal of human genetics

authors： Dianzani I,Forrest SM,Camaschella C,Saglio G,Ponzone A,Cotton RG

更新日期：1991-03-01 00:00:00

abstract：:Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to e...

journal_title：American journal of human genetics

authors： Mavaddat N,Michailidou K,Dennis J,Lush M,Fachal L,Lee A,Tyrer JP,Chen TH,Wang Q,Bolla MK,Yang X,Adank MA,Ahearn T,Aittomäki K,Allen J,Andrulis IL,Anton-Culver H,Antonenkova NN,Arndt V,Aronson KJ,Auer PL,Auvinen

更新日期：2019-01-03 00:00:00

abstract：:Argininosuccinate lyase (AS lyase) deficiency is an inborn error of the urea cycle with extensive clinical and genetic heterogeneity. We investigated the biochemical basis of the enzyme defect and the genetic heterogeneity in this disorder using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and ...

journal_title：American journal of human genetics

authors： Simard L,O'Brien WE,McInnes RR

更新日期：1986-07-01 00:00:00

abstract：:Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atr...

journal_title：American journal of human genetics

authors： Khateeb S,Flusser H,Ofir R,Shelef I,Narkis G,Vardi G,Shorer Z,Levy R,Galil A,Elbedour K,Birk OS

更新日期：2006-11-01 00:00:00

abstract：:Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different diseases. Bromodomain and PHD finger-containing protein 1 (BRPF1) is a multivalent chromatin regulator possessing three histone-binding domains, one non-specific DNA-...

journal_title：American journal of human genetics

authors： Yan K,Rousseau J,Littlejohn RO,Kiss C,Lehman A,Rosenfeld JA,Stumpel CTR,Stegmann APA,Robak L,Scaglia F,Nguyen TTM,Fu H,Ajeawung NF,Camurri MV,Li L,Gardham A,Panis B,Almannai M,Sacoto MJG,Baskin B,Ruivenkamp C,Xi

更新日期：2017-01-05 00:00:00

abstract：:Gilles de la Tourette syndrome is a neuropsychiatric disorder characterized by waxing and waning multiple motor and phonic tics with a complex mode of inheritance. Previous attempts, which used large multigenerational families to localize susceptibility loci, have been unsuccessful. In this report, the results of the ...

journal_title：American journal of human genetics

authors：

更新日期：1999-11-01 00:00:00

abstract：:Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low...

journal_title：American journal of human genetics

authors： Ellis NA,Lennon DJ,Proytcheva M,Alhadeff B,Henderson EE,German J

更新日期：1995-11-01 00:00:00

abstract：:Integration of detailed phenotype information with genetic data is well established to facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However, how to accurately and efficiently extr...

journal_title：American journal of human genetics

authors： Son JH,Xie G,Yuan C,Ena L,Li Z,Goldstein A,Huang L,Wang L,Shen F,Liu H,Mehl K,Groopman EE,Marasa M,Kiryluk K,Gharavi AG,Chung WK,Hripcsak G,Friedman C,Weng C,Wang K

更新日期：2018-07-05 00:00:00

abstract：:Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants also requires large-scale meta-analysis. The fact that association tests with rare variants are perf...

journal_title：American journal of human genetics

authors： Hu YJ,Berndt SI,Gustafsson S,Ganna A,Genetic Investigation of ANthropometric Traits (GIANT) Consortium.,Hirschhorn J,North KE,Ingelsson E,Lin DY

更新日期：2013-08-08 00:00:00

abstract：:We have studied a nuclear family containing a single child with severe beta-thalassemia intermedia, a Greek-Cypriot mother with hematological findings of beta-thalassemia trait, and a Polish father who is hematologically normal. Since both the child and her father were heterozygous for a DNA polymorphism within the be...

journal_title：American journal of human genetics

authors： Kazazian HH Jr,Orkin SH,Boehm CD,Goff SC,Wong C,Dowling CE,Newburger PE,Knowlton RG,Brown V,Donis-Keller H

更新日期：1986-06-01 00:00:00

abstract：:Thyroid-stimulating hormone (TSH) controls thyroid growth and hormone secretion through binding to its G protein-coupled receptor (TSHR) and production of cyclic AMP (cAMP). Serum TSH is a sensitive indicator of thyroid function, and overt abnormalities in thyroid function lead to common endocrine disorders affecting ...

journal_title：American journal of human genetics

authors： Arnaud-Lopez L,Usala G,Ceresini G,Mitchell BD,Pilia MG,Piras MG,Sestu N,Maschio A,Busonero F,Albai G,Dei M,Lai S,Mulas A,Crisponi L,Tanaka T,Bandinelli S,Guralnik JM,Loi A,Balaci L,Sole G,Prinzis A,Mariotti S,

更新日期：2008-06-01 00:00:00

abstract：:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal role in EDS types I and II, which show phenotypic overlap and may sometimes be allelic. Type V collagen can exist as a h...

journal_title：American journal of human genetics

authors： Burrows NP,Nicholls AC,Richards AJ,Luccarini C,Harrison JB,Yates JR,Pope FM

更新日期：1998-08-01 00:00:00

abstract：:Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is precisely controlled to guarantee efficient compaction of the genome and proper chromosomal segregation during cell division and to accomplish DNA replication, transcription, and repair. Due to the important structural and regulatory rol...

journal_title：American journal of human genetics

authors： Flex E,Martinelli S,Van Dijck A,Ciolfi A,Cecchetti S,Coluzzi E,Pannone L,Andreoli C,Radio FC,Pizzi S,Carpentieri G,Bruselles A,Catanzaro G,Pedace L,Miele E,Carcarino E,Ge X,Chijiwa C,Lewis MES,Meuwissen M,Kenis S

更新日期：2019-09-05 00:00:00

abstract：:The cloning of the CFTR gene has made it technically possible to avert the unwanted birth of a child with cystic fibrosis (CF). Several large trials offering prenatal CF carrier screening suggest that such screening is practical and that identified carriers generally use the information obtained. Therefore, a critical...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Kaplan RM

更新日期：1998-10-01 00:00:00

abstract：:X inactivation involves initiation, propagation, and maintenance of genetic inactivation. Studies of replication timing in X;autosome translocations have suggested that X inactivation may spread into adjacent autosomal DNA. To examine the inactivation of autosomal material at the molecular level, we assessed the trans...

journal_title：American journal of human genetics

authors： White WM,Willard HF,Van Dyke DL,Wolff DJ

更新日期：1998-07-01 00:00:00

abstract：:The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the path...

journal_title：American journal of human genetics

authors： Sobel E,Lange K

更新日期：1996-06-01 00:00:00

abstract：:This article provides evidence that selection has been a significant force during the evolution of the human mitochondrial genome. Both gene-by-gene and whole-genome approaches were used here to assess selection in the 560 mitochondrial DNA (mtDNA) coding-region sequences that were used previously for reduced-median-n...

journal_title：American journal of human genetics

authors： Elson JL,Turnbull DM,Howell N

更新日期：2004-02-01 00:00:00

abstract：:The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, ...

journal_title：American journal of human genetics

authors： Monrós E,Moltó MD,Martínez F,Cañizares J,Blanca J,Vílchez JJ,Prieto F,de Frutos R,Palau F

更新日期：1997-07-01 00:00:00

abstract：:ATM, the gene that is mutated in ataxia-telangiectasia, is associated with cerebellar degeneration, abnormal proliferation of small blood vessels, and cancer. These clinically important manifestations have stimulated interest in defining the sequence variation in the ATM gene. Therefore, we undertook a comprehensive s...

journal_title：American journal of human genetics

authors： Thorstenson YR,Shen P,Tusher VG,Wayne TL,Davis RW,Chu G,Oefner PJ

更新日期：2001-08-01 00:00:00

abstract：:A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced au...

journal_title：American journal of human genetics

authors： Funderburk SJ,Sparkes RS,Klisak I,Law ML

更新日期：1984-07-01 00:00:00

abstract：:Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is a hereditary disorder characterized by the incomplete vascularization of the peripheral retina. The primary biochemical defect in adFEVR is unknown. The adFEVR locus has tentatively been assigned to 11q by linkage studies. We report the results of an ...

journal_title：American journal of human genetics

authors： Li Y,Müller B,Fuhrmann C,van Nouhuys CE,Laqua H,Humphries P,Schwinger E,Gal A

更新日期：1992-10-01 00:00:00

abstract：:Beta-Glucosidase activity measured by synthetic substrate at pH 4.6 was low in the cultured amniotic cells from two pregnant women at risk for juvenile and adult type Gaucher disease. The diagnosis was confirmed by showing a low activity of beta-glucosidase in the skin fibroblasts with a synthetic substrate or in the ...

journal_title：American journal of human genetics

authors： Kitagawa T,Owada M,Sakiyama T,Aoki K,Kamoshita S,Amenomori Y,Kobayashi T

更新日期：1978-05-01 00:00:00