[Dermatoglyphics of homo- and heterozygotes for Wilson's disease (hepatolenticular degeneration) (author's transl)].

abstract：:The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to ...

journal_title：Human genetics

authors： Dittrich B,Robinson WP,Knoblauch H,Buiting K,Schmidt K,Gillessen-Kaesbach G,Horsthemke B

更新日期：1992-11-01 00:00:00

abstract：:We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese po...

journal_title：Human genetics

authors： Kondo I,Yamamoto T,Yamakawa K,Shibasaki M,Hamaguchi H

更新日期：1985-01-01 00:00:00

abstract：:Short tandem repeats are abundantly present within the genome. They are commonly used as polymorphic markers but their potential functional role is poorly documented. Several of these microsatellites have been described within the beta-globin locus and some could be involved in controlling gene expression. Our purpose...

journal_title：Human genetics

authors： Lapoumeroulie C,Castiglia L,Ruberto C,Fichera M,Amata S,Labie D,Ragusa A

更新日期：1999-04-01 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：:A continuous increase in the incidence of Down syndrome in Sweden was noted during 1979-1981. This increase mainly occurred among children of younger mothers and was more pronounced for the males than for the females. There was no evidence of a significant seasonal variation, increased frequency of prematurely born ch...

journal_title：Human genetics

authors： Iselius L,Lindsten J

更新日期：1986-02-01 00:00:00

abstract：:A cloned cDNA probe encoding human factor IX was used for detecting homologous sequences in rodent human X chromosome hybrids and in human metaphase chromosome preparations. The results of these studies indicate that human factor IX is localized to the Xq27 leads to Xqter region. ...

journal_title：Human genetics

authors： Chance PF,Dyer KA,Kurachi K,Yoshitake S,Ropers HH,Wieacker P,Gartler SM

更新日期：1983-01-01 00:00:00

abstract：:Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...

journal_title：Human genetics

authors： Suzuki K,Henke J,Iwata M,Henke L,Tsuji H,Fukunaga T,Ishimoto G,Szekelyi M,Ito S

更新日期：1996-10-01 00:00:00

abstract：:Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus. ...

journal_title：Human genetics

authors： Simoni G,Montali E,Rossella F,Dalprà L,Lo Curto F

更新日期：1979-01-25 00:00:00

abstract：:A locus, LP, that determines quantitative variation of Lp(a) lipoprotein phenotypes is linked to the plasminogen (PLG) locus (peak lod score = 12.73). This linkage relationship assigns a locus with alleles that have an affect on risk for coronary artery disease to the long arm of chromosome 6. ...

journal_title：Human genetics

authors： Weitkamp LR,Guttormsen SA,Schultz JS

更新日期：1988-05-01 00:00:00

abstract：:This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...

journal_title：Human genetics

authors： Gencik A,Gencikova A,Ferák V

更新日期：1982-01-01 00:00:00

abstract：:The red (RCP) and green (GCP) color pigment genes are located in Xq28, a chromosomal region implicated in many genetic disorders. The restriction fragment length polymorphism (RFLP) we describe here will be useful for linkage analysis in these disorders. ...

journal_title：Human genetics

authors： Vits L,Willems PJ

更新日期：1992-11-01 00:00:00

abstract：:A cytogenetic follow-up has been made of nine mixoploid children found among 11 148 consecutive newborn children. The frequency of the cell line with normal chromosomes increased in all but two, and the increase was statistically significant, being from 20% to 39% in four cases, and from 1% to 17% in three, while in o...

journal_title：Human genetics

authors： Nielsen J,Krag-Olsen B

更新日期：1980-01-01 00:00:00

abstract：:The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients we...

journal_title：Human genetics

authors： Schneppenheim R,Krey S,Bergmann F,Bock D,Budde U,Lange M,Linde R,Mittler U,Meili E,Mertes G

更新日期：1994-12-01 00:00:00

abstract：:A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. Th...

journal_title：Human genetics

authors： Stark M,Assum G,Krone W

更新日期：1991-10-01 00:00:00

abstract：:Proteins were extracted from liver, brain, and skin of 6-day-old mice with trisomy (Ts) 19 and fractionated into solubilized cell proteins and structure-bound cell proteins. The proteins were separated by two-dimensional electrophoresis, and protein patterns were compared in the combinations Ts/normal and normal/norma...

journal_title：Human genetics

authors： Zeindl-Eberhart E,Grohé G,Klose J

更新日期：1987-12-01 00:00:00

abstract：:In a pilot study, the possible influence of the inherited electroencephalogram (EEG) pattern on aspects of psychologic maturation was investigated. The twin sample consisted of 208 pairs, 110 monozygotic (MZ) and 98 dizygotic (DZ), mostly children and adolescents. The study showed a greater similarity between MZ compa...

journal_title：Human genetics

authors： Vogel F,Schalt E,Krüger J,Klarich G

更新日期：1982-01-01 00:00:00

abstract：:This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated ...

journal_title：Human genetics

authors： Chen Y,Zhang J,Zhang L,Shen Y,Xu Q

更新日期：2012-07-01 00:00:00

abstract：:Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat expansion mutations. Expansion mutations may also cause a number of other disorders, including several additional forms of spinocerebellar ataxia, bipolar affective disorder, schizophrenia, and autism. To obtain candiate genes for th...

journal_title：Human genetics

authors： Margolis RL,Abraham MR,Gatchell SB,Li SH,Kidwai AS,Breschel TS,Stine OC,Callahan C,McInnis MG,Ross CA

更新日期：1997-07-01 00:00:00

abstract：:Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic fo...

journal_title：Human genetics

authors： Vandewalle J,Bauters M,Van Esch H,Belet S,Verbeeck J,Fieremans N,Holvoet M,Vento J,Spreiz A,Kotzot D,Haberlandt E,Rosenfeld J,Andrieux J,Delobel B,Dehouck MB,Devriendt K,Fryns JP,Marynen P,Goldstein A,Froyen G

更新日期：2013-10-01 00:00:00

abstract：:The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorben...

journal_title：Human genetics

authors： Kobayashi K,Ichiki H,Saheki T,Tatsuno M,Uchiyama C,Nukada O,Yoda T

更新日期：1987-05-01 00:00:00

abstract：:Using in situ chromosomal hybridization we have mapped the gene for the T-cell receptor alpha-chain in three different non-malignant T-cell clones occurring in ataxia telangiectasia. The constant region was translocated in each of the three clones. The variable region remained in its original position in two cases and...

journal_title：Human genetics

authors： Stern MH,Zhang FR,Griscelli C,Thomas G,Aurias A

更新日期：1988-01-01 00:00:00

abstract：:The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...

journal_title：Human genetics

authors： Ananthakrishnan R,D'Souza S

更新日期：1978-01-19 00:00:00

abstract：:A modified technique has been developed for the visualization of the chromosomes in human sperm. The cytogenetic analysis of 129 G-banded human sperm metaphases of 6 normal donors showed an incidence of structural and numerical chromosome abnormalities of 7.8%. Two out of 129 spermatozoa were aneuploid (1.6%). The fre...

journal_title：Human genetics

authors： Jenderny J,Röhrborn G

更新日期：1987-08-01 00:00:00

abstract：:Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey. ...

journal_title：Human genetics

authors： Bien SA,Su YR,Conti DV,Harrison TA,Qu C,Guo X,Lu Y,Albanes D,Auer PL,Banbury BL,Berndt SI,Bézieau S,Brenner H,Buchanan DD,Caan BJ,Campbell PT,Carlson CS,Chan AT,Chang-Claude J,Chen S,Connolly CM,Easton DF,Fesk

更新日期：2019-07-01 00:00:00

abstract：:Gene frequency data of ten protein and enzyme loci in seven populations of India were collected from the literature. The gene differentiation among seven populations relative to total population was only 0.6%, indicating that the genic variation between populations was small compared to that within them. Using 29 comm...

journal_title：Human genetics

authors： Roychoudhury AK

更新日期：1977-12-29 00:00:00

abstract：:The imprinted domain on human chromosome 15 consists of two oppositely imprinted gene clusters, which are under the control of an imprinting center (IC). The paternally expressed SNURF-SNRPN gene hosts several snoRNA genes and overlaps the UBE3A gene, which is encoded on the opposite strand, expressed - at least in br...

journal_title：Human genetics

authors： Runte M,Kroisel PM,Gillessen-Kaesbach G,Varon R,Horn D,Cohen MY,Wagstaff J,Horsthemke B,Buiting K

更新日期：2004-05-01 00:00:00

abstract：:Multiple linkage regions have been reported in schizophrenia, and some appear to harbor susceptibility genes that are differentially expressed in postmortem brain tissue derived from unrelated individuals. We combined traditional genome-wide linkage analysis in a multiplex family with lymphocytic genome-wide expressio...

journal_title：Human genetics

authors： Vawter MP,Atz ME,Rollins BL,Cooper-Casey KM,Shao L,Byerley WF

更新日期：2006-06-01 00:00:00

abstract：:The ERM proteins, ezrin, radixin, and moesin, act as linkers between the plasma membrane and actin cytoskeleton. They are involved in a variety of cellular functions, such as cell adhesion, migration, and the organization of cell surface structures, and are highly homologous, both in protein sequence and in functional...

journal_title：Human genetics

authors： Majander-Nordenswan P,Sainio M,Turunen O,Jääskeläinen J,Carpén O,Kere J,Vaheri A

更新日期：1998-12-01 00:00:00

abstract：:Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Duarte/galactosemia c...

journal_title：Human genetics

authors： Lin HC,Kirby LT,Ng WG,Reichardt JK

更新日期：1994-02-01 00:00:00

abstract：:A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal ...

journal_title：Human genetics

authors： Musumeci S,Schilirò G,Pizzarelli G,Tentori L,Marinucci M,Fontanarosa PP,Russo G

更新日期：1979-11-01 00:00:00