A genome-wide study of Hardy-Weinberg equilibrium with next generation sequence data.

abstract：:The X-linked cyclin-dependent kinase-like 5 (CDKL5) gene is an important molecular determinant of early-onset intractable seizures with infantile spasms and Rett syndrome-like phenotype. The gene encodes a kinase that may influence components of molecular pathways associated with MeCP2. In humans there are two previou...

journal_title：Human genetics

authors： Williamson SL,Giudici L,Kilstrup-Nielsen C,Gold W,Pelka GJ,Tam PP,Grimm A,Prodi D,Landsberger N,Christodoulou J

更新日期：2012-02-01 00:00:00

abstract：:After an association between genetic variants and a phenotype has been established, further study goals comprise the classification of patients according to disease risk or the estimation of disease probability. To accomplish this, different statistical methods are required, and specifically machine-learning approache...

journal_title：Human genetics

authors： Kruppa J,Ziegler A,König IR

更新日期：2012-10-01 00:00:00

abstract：:We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) a...

journal_title：Human genetics

authors： Rowe PS,Goulding J,Read A,Lehrach H,Francis F,Hanauer A,Oudet C,Biancalana V,Kooh SW,Davies KE

更新日期：1994-03-01 00:00:00

abstract：:Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the...

journal_title：Human genetics

authors： Chekuri A,Guru AA,Biswas P,Branham K,Borooah S,Soto-Hermida A,Hicks M,Khan NW,Matsui H,Alapati A,Raghavendra PB,Roosing S,Sarangapani S,Mathavan S,Telenti A,Heckenlively JR,Riazuddin SA,Frazer KA,Sieving PA,Ayyagari

更新日期：2018-07-01 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：:GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variet...

journal_title：Human genetics

authors： Carmona-Mora P,Widagdo J,Tomasetig F,Canales CP,Cha Y,Lee W,Alshawaf A,Dottori M,Whan RM,Hardeman EC,Palmer SJ

更新日期：2015-10-01 00:00:00

abstract：:The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a sig...

journal_title：Human genetics

authors： Forbes SA,Richardson M,Brennan L,Arnason A,Bjornsson A,Campbell L,Moore G,Stanier P

更新日期：1995-03-01 00:00:00

abstract：:Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxyl...

journal_title：Human genetics

authors： Bartholomé K,Olek K,Trefz F

更新日期：1984-01-01 00:00:00

abstract：:DNA haplotypes and frameworks (numbers in parenthesis) linked to the beta-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal beta-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB...

journal_title：Human genetics

authors： Hundrieser J,Sanguansermsri T,Papp T,Laig M,Flatz G

更新日期：1988-09-01 00:00:00

abstract：:X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...

journal_title：Human genetics

authors： Takechi T,Tohyama J,Kurashige T,Maruta K,Uyemura K,Ohi T,Matsukura S,Sakuragawa N

更新日期：1996-03-01 00:00:00

abstract：:The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(p...

journal_title：Human genetics

authors： Patracchini P,Calzolari E,Aiello V,Palazzi P,Banin P,Marchetti G,Bernardi F

更新日期：1989-10-01 00:00:00

abstract：:The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short t...

journal_title：Human genetics

authors： Kayser M

更新日期：2017-05-01 00:00:00

abstract：:The size and position of the heterochromatic regions of chromosome 9 were examined in a group of women with histories of recurrent miscarriage and a control group of fertile women. Measurements were made on whole chromosomes (variability between chromosomes was taken to reflect differences in heterochromatin), and cor...

journal_title：Human genetics

authors： Ford JH,Callen DF,Jahnke AB,Roberts CG

更新日期：1982-01-01 00:00:00

abstract：:A case of hereditary nonspherocytic hemolytic anemia associated with partial erythrocyte PFK deficiency without muscular symptoms is reported: erythrocyte enzyme activity in the propositus was 60% of normal. Kinetic studies of erythrocyte PFK revealed increased sensitivity to ATP inhibition and decreased sensitivity t...

journal_title：Human genetics

authors： Etiemble J,Kahn A,Boivin P,Bernard JF,Goudemand M

更新日期：1976-01-28 00:00:00

abstract：:The frequency of alleles for intragenic (intron 17 and intron 25) and extragenic (DXS15 and DXS52) F8C RFLPs was investigated in the Algerian population. Altogether 287 X chromosomes (97 males and 95 females) were studied. The allele frequencies found with the two intragenic F8C RFLPs were not substantially different ...

journal_title：Human genetics

authors： Nafa K,Meriane F,Reghis A,Benabadji M,Demenais F,Guilloud-Bataille M,Sultan Y,Kaplan JC,Delpech M

更新日期：1990-04-01 00:00:00

abstract：:Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic...

journal_title：Human genetics

authors： Eising E,Huisman SMH,Mahfouz A,Vijfhuizen LS,Anttila V,Winsvold BS,Kurth T,Ikram MA,Freilinger T,Kaprio J,Boomsma DI,van Duijn CM,Järvelin MR,Zwart JA,Quaye L,Strachan DP,Kubisch C,Dichgans M,Davey Smith G,Stefansso

更新日期：2016-04-01 00:00:00

abstract：:Genetic factors strongly influence risk of common human diseases and treatment outcomes but the causative variants remain largely unknown; this gap has been called the 'missing heritability'. We propose several hypotheses that in combination have the potential to narrow the gap. First, given a multi-stage path from we...

journal_title：Human genetics

authors： Sadee W,Hartmann K,Seweryn M,Pietrzak M,Handelman SK,Rempala GA

更新日期：2014-10-01 00:00:00

abstract：:The cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4; CD 152) is a negative regulator of T-lymphocyte activation. Particular genotypes of the locus encoding the CTLA-4 glycoprotein have been associated with susceptibility to various autoimmune diseases. To determine their role in susceptibility to systemic lupus er...

journal_title：Human genetics

authors： Hudson LL,Rocca K,Song YW,Pandey JP

更新日期：2002-10-01 00:00:00

abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterized by enlarged kidneys and congenital hepatic fibrosis. Given the poor prognosis for the majority of children with the severe perinatal ARPKD phenotype, there is a regular request for prenatal testing. ARPKD ...

journal_title：Human genetics

authors： Losekoot M,Haarloo C,Ruivenkamp C,White SJ,Breuning MH,Peters DJ

更新日期：2005-11-01 00:00:00

abstract：:A well defined polymorphism of vitamin D-binding/group-specific component (GC) residues in exon 11. To characterize the molecular basis of GC*1A2 and GC*1A3, common in some Asian populations, we analyzed all coding exons amplified by the polymerase chain reaction. GC*1F was divided into GC*1FC and GC*1FT by a C-T tran...

journal_title：Human genetics

authors： Yuasa I,Kofler A,Braun A,Umetsu K,Bichlmaier R,Kammerer S,Cleve H

更新日期：1995-05-01 00:00:00

abstract：:A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...

journal_title：Human genetics

authors： Krasnopolskaya XD,Shatskaya TL

更新日期：1987-03-01 00:00:00

abstract：:The secondary constriction in human chromosome 1 consists of a proximal segment stained by the GC-specific fluorochrome mithramycin and a distal segment stained by such fluorochromes as DAPI or DIPI, which show enhanced fluorescence intensities in AT-rich regions of the chromosomes. A study involving 21 individuals re...

journal_title：Human genetics

authors： Sigmund J,Schwarz S

更新日期：1979-01-19 00:00:00

abstract：:We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just p...

journal_title：Human genetics

authors： Ellison JW,Tekin M,Sikes KS,Yankowitz J,Shapiro L,Rappold GA,Neely KE

更新日期：2002-04-01 00:00:00

abstract：:Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in...

journal_title：Human genetics

authors： Salas-Huetos A,Tüttelmann F,Wyrwoll MJ,Kliesch S,Lopes AM,Goncalves J,Boyden SE,Wöste M,Hotaling JM,GEMINI Consortium.,Nagirnaja L,Conrad DF,Carrell DT,Aston KI

更新日期：2020-11-19 00:00:00

abstract：:The DNA ancestry testing industry is more than a decade old, yet details about it remain a mystery: there remain no reliable, empirical data on the number, motivations, and attitudes of customers to date, the number of products available and their characteristics, or the industry customs and standard practices that ha...

journal_title：Human genetics

authors： Wagner JK,Weiss KM

更新日期：2012-01-01 00:00:00

abstract：:Split hand/foot malformation (SHFM) with long bone deficiency (SHFLD) is a distinct entity in the spectrum of ectrodactylous limb malformations characterised by associated tibial a/hypoplasia. Pedigrees with multiple individuals affected by SHFLD often include non-penetrant intermediate relatives, making genetic mappi...

journal_title：Human genetics

authors： Babbs C,Heller R,Everman DB,Crocker M,Twigg SR,Schwartz CE,Giele H,Wilkie AO

更新日期：2007-09-01 00:00:00

abstract：:The data of the chromosome abnormalities in 15 colorectal tumors are presented. Rearrangements of the short arm of chromosome 17, leading to deletions of this arm or its part were noted in 12 tumors; in 2 other cases, one of the homologs of pair 17 was lost. The losses of at least one homolog of other chromosomal pair...

journal_title：Human genetics

authors： Konstantinova LN,Fleischman EW,Knisch VI,Perevozchikov AG,Kopnin BP

更新日期：1991-03-01 00:00:00

abstract：:We have identified a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 gene (TYRP). TYRP is one of several genes involved in melanin pigment production. ...

journal_title：Human genetics

authors： Wildenberg SC,King RA,Oetting WS

更新日期：1995-02-01 00:00:00

abstract：:Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an ami...

journal_title：Human genetics

authors： Lench NJ,Telford EA,High AS,Markham AF,Wicking C,Wainwright BJ

更新日期：1997-10-01 00:00:00

abstract：:We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de novo (dn) apparently balanced chromosomal abnormalities (BCA) in prenatal diagnosis (PND). Retrospective or concomitant with conventional PND and liGS, molecular ...

journal_title：Human genetics

authors： David D,Freixo JP,Fino J,Carvalho I,Marques M,Cardoso M,Piña-Aguilar RE,Morton CC

更新日期：2020-04-01 00:00:00