Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level?

abstract：:Single-copy DNA sequences defining several pseudoautosomal loci on the human sex chromosomes are shown to be highly conserved in the genome of the chimpanzee. Segregation analysis of polymorphic pseudoautosomal probes in a chimpanzee pedigree revealed that the transmission of the paternal alleles was not strictly sex-...

journal_title：Human genetics

authors： Weber B,Weissenbach J,Schempp W

更新日期：1988-11-01 00:00:00

abstract：:A protocol is reported which allows the efficient induction of bromodeoxyuridine (BrdU)-induced R-type replication patterns in fibroblast cultures prepared to demonstrate the fragile site fra(X)(q27). The technique includes partial synchronization of the culture by fluorodeoxyuridine (FdU) blocking at the G1/S transit...

journal_title：Human genetics

authors： Barbi G,Steinbach P,Wiedenmann A,Vogel W

更新日期：1983-01-01 00:00:00

abstract：:The possible influence of the fragile X mutation at Xq27 on the expression of the neighbouring gene (at Xq26) for hypoxanthine phosphoribosyl transferase (HPRT) was studied by determination of the levels of HPRT-RNA and HPRT enzyme activity in fibroblast cell cultures from 7 fragile X patients. These levels were lower...

journal_title：Human genetics

authors： Steen AM,Marcus S,Sahlén S,Nielsen KB,Lambert B

更新日期：1991-08-01 00:00:00

abstract：:Despite the identification of an increasing number of genes involved in sex determination and differentiation, no cause can be attributed to most cases of 46, XY gonadal dysgenesis, approximately 20% of 46, XX males and the majority of subjects with 46, XX true hermaphroditism. Perhaps the most interesting candidate f...

journal_title：Human genetics

authors： Lim HN,Berkovitz GD,Hughes IA,Hawkins JR

更新日期：2000-12-01 00:00:00

abstract：:Preterm birth (PTB) is the leading cause of infant mortality. PTB pathophysiology overlaps with those of adult cardiovascular, immune and metabolic disorders (CIMD), with mechanisms including inflammation, immunotolerance, thrombosis, and nutrient metabolism. Whereas many genetic factors for CIMD have been identified,...

journal_title：Human genetics

authors： Falah N,McElroy J,Snegovskikh V,Lockwood CJ,Norwitz E,Murray JC,Kuczynski E,Menon R,Teramo K,Muglia LJ,Morgan T

更新日期：2013-01-01 00:00:00

abstract：:There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial se...

journal_title：Human genetics

authors： Soares PA,Trejaut JA,Rito T,Cavadas B,Hill C,Eng KK,Mormina M,Brandão A,Fraser RM,Wang TY,Loo JH,Snell C,Ko TM,Amorim A,Pala M,Macaulay V,Bulbeck D,Wilson JF,Gusmão L,Pereira L,Oppenheimer S,Lin M,Richards MB

更新日期：2016-03-01 00:00:00

abstract：:Multiple sclerosis (MS) is a common complex neurodegenerative disease of the central nervous system. It develops with autoimmune inflammation and demyelination. Genome-wide association studies (GWASs) serve as a powerful tool for investigating the genetic architecture of MS and are generally used to identify the genet...

journal_title：Human genetics

authors： Bashinskaya VV,Kulakova OG,Boyko AN,Favorov AV,Favorova OO

更新日期：2015-11-01 00:00:00

abstract：:High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide linkage scan mapped t...

journal_title：Human genetics

authors： Xiao X,Sun W,Ouyang J,Li S,Jia X,Tan Z,Hejtmancik JF,Zhang Q

更新日期：2019-10-01 00:00:00

abstract：:By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and ...

journal_title：Human genetics

authors： Danieli GA,Mostacciuolo ML,Bonfante A,Angelini C

更新日期：1977-02-11 00:00:00

abstract：:An infant exposed to high levels of lead in utero was found to have increased numbers of cells with chromosome breaks in blood samples obtained at 6 weeks and 3 months of life. Later samples did not show significant abnormality. Physical and neurological examinations of the patient up to 18 months of age gave results ...

journal_title：Human genetics

authors： Qazi QH,Madahar C,Yuceoglu AM

更新日期：1980-02-01 00:00:00

abstract：:Herlitz disease (H-JEB), the lethal form of junctional epidermolysis bullosa, is a rare genodermatosis presenting from birth with widespread erosions and blistering of skin and mucosae because of tissue cleavage within the epidermal basement membrane. Mutations in any of the three genes encoding the alpha3, beta3 and ...

journal_title：Human genetics

authors： Mühle C,Jiang QJ,Charlesworth A,Bruckner-Tuderman L,Meneguzzi G,Schneider H

更新日期：2005-01-01 00:00:00

abstract：:A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined ...

journal_title：Human genetics

authors： Arnold H,Löhr GW,Hasslinger K,Ludwig R

更新日期：1981-01-01 00:00:00

abstract：:We report a male child with autism found to have maternal uniparental disomy (UPD) of chromosome 1. The child met diagnostic criteria for the three symptom domains of autism: language impairment, deficient social communication and excessively rigid and repetitive behaviours. He also had a variety of features often ass...

journal_title：Human genetics

authors： Wassink TH,Losh M,Frantz RS,Vieland VJ,Goedken R,Piven J,Sheffield VC

更新日期：2005-07-01 00:00:00

abstract：:Our purpose is to assess whether genotypes of the vitamin D receptor (VDR) and estrogen receptor (ER) and their interaction influence changes in bone mass in postmenopausal Caucasian women with and without hormone replacement therapy (HRT). A population of 108 US Mid-West women who participated in a study of low-dose ...

journal_title：Human genetics

authors： Deng HW,Li J,Li JL,Johnson M,Gong G,Davis KM,Recker RR

更新日期：1998-11-01 00:00:00

abstract：:During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5' end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDNA fragment encompas...

journal_title：Human genetics

authors： Lelli N,Garuti R,Pedrazzi P,Ghisellini M,Simone ML,Tiozzo R,Cattin L,Valenti M,Rolleri M,Bertolini S

更新日期：1994-05-01 00:00:00

abstract：:Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C----T or G----A transitions, which thus occur within coding regions at a frequency 42-f...

journal_title：Human genetics

authors： Cooper DN,Youssoufian H

更新日期：1988-02-01 00:00:00

abstract：:Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal domina...

journal_title：Human genetics

authors： Yang Y,Guo J,Liu Z,Tang S,Li N,Yang M,Pang Q,Fan F,Bu J,Yuan ST,Xiao X,Chen Y,Zhao K

更新日期：2006-08-01 00:00:00

abstract：:A previous analysis of mtDNA variation in the Caucasus found that Indo-European-speaking Armenians and Turkic-speaking Azerbaijanians were more closely related genetically to other Caucasus populations (who speak Caucasian languages) than to other Indo-European or Turkic groups, respectively. Armenian and Azerbaijania...

journal_title：Human genetics

authors： Nasidze I,Sarkisian T,Kerimov A,Stoneking M

更新日期：2003-03-01 00:00:00

abstract：:Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the con...

journal_title：Human genetics

authors： Kalousek DK,Dill FJ,Pantzar T,McGillivray BC,Yong SL,Wilson RD

更新日期：1987-10-01 00:00:00

abstract：:The neurofibromatosis type 1 (NF1) gene located at 17q 11.2 contains 60 exons and spans 350 kb of genomic DNA. Mutation analysis has been hampered by the large size of the gene, the high rate of new mutations, a lack of mutational clustering and the presence of numerous homologous loci. Mutation detection methods base...

journal_title：Human genetics

authors： Osborn MJ,Upadhyaya M

更新日期：1999-10-01 00:00:00

abstract：:A significantly higher frequency of baseline sister chromatid exchange (SCE) was found in the cultured lymphocytes of 13 Blackfoot disease patients (BFP) in comparison with that of healthy persons (HP). Twelve of these BFP consumed well water containing a high concentration of arsenic for 15 years or longer and had sw...

journal_title：Human genetics

authors： Wen WN,Lieu TL,Chang HJ,Wuu SW,Yau ML,Jan KY

更新日期：1981-01-01 00:00:00

abstract：:Uterine fibroids (UFs) affect 77 % of women by menopause and account for $9.4 billion in yearly healthcare costs. We recently replicated findings from the first UF genome-wide association study (GWAS), conducted in the Japanese. Here we tested these GWAS-discovered SNPs for association with UF characteristics to furth...

journal_title：Human genetics

authors： Edwards TL,Hartmann KE,Velez Edwards DR

更新日期：2013-12-01 00:00:00

abstract：:We describe a novel mutation in the delta globin gene of a compound heterozygote for delta o thalassemia and a deletion type G gamma + (A gamma delta beta) zero thalassemia. The delta was amplified using the polymerase chain reaction (PCR), and the amplified material was used in a direct sequencing experiment. The nuc...

journal_title：Human genetics

authors： Losekoot M,Fodde R,Giordano PC,Bernini LF

更新日期：1989-08-01 00:00:00

abstract：:Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13. The esterase D activity was proportional to the number of copies of the q14 region of chromosome 13 present. These findings confirm published data localizing the estera...

journal_title：Human genetics

authors： Dryja TP,Bruns GA,Gallie B,Petersen R,Green W,Rapaport JM,Albert DM,Gerald PS

更新日期：1983-01-01 00:00:00

abstract：:The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplot...

journal_title：Human genetics

authors： Frisch A,Colombo R,Michaelovsky E,Karpati M,Goldman B,Peleg L

更新日期：2004-03-01 00:00:00

abstract：:The frequency and distribution of aphidicolin (APC)-induced common fragile sites (cfs) were analyzed in human embryonic cells of different origins. Embryonic lung fibroblasts (MRC-5), amniocytes (AMINO) and embryonic retina cells (HERO790) are as sensitive to the APC-induced clastogenic effect as peripheral lymphocyte...

journal_title：Human genetics

authors： Caporossi D,Vernole P,Nicoletti B,Tedeschi B

更新日期：1995-09-01 00:00:00

abstract：:Complement component 3 (C3) is the central molecule of the complement system. It displays a number of polymorphic variants with, as yet, unclear functional consequences. We have investigated a number of rare C3 variants by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis and could ...

journal_title：Human genetics

authors： Höhler T,Botto M,Rittner C,Schneider PM,Meyer zum Büschenfelde KH

更新日期：1995-11-01 00:00:00

abstract：:Lactose tolerance tests with conventional blood glucose determination and with breath hydrogen analysis after storage of breath samples in aluminium aerosol cans were simultaneously performed in 60 healthy adult subjects. Both tests were equally reliable in the diagnosis of the lactase phenotype in healthy persons. In...

journal_title：Human genetics

authors： Howell JN,Schockenhoff T,Flatz G

更新日期：1981-05-01 00:00:00

abstract：:Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to ide...

journal_title：Human genetics

authors： Massingham LJ,Johnson KL,Scholl TM,Slonim DK,Wick HC,Bianchi DW

更新日期：2014-09-01 00:00:00

abstract：:African Americans have increased susceptibility to non-diabetic (non-DM) forms of end-stage renal disease (ESRD) and extensive evidence supports a genetic contribution. A genome-wide association study (GWAS) using pooled DNA was performed in 1,000 African Americans to detect associated genes. DNA from 500 non-DM ESRD ...

journal_title：Human genetics

authors： Bostrom MA,Lu L,Chou J,Hicks PJ,Xu J,Langefeld CD,Bowden DW,Freedman BI

更新日期：2010-08-01 00:00:00