abstract：:CAG/CTG repeat expansions cause at least 12 different neurological disorders, and additional disorders of this type probably exist. Using the repeat expansion detection (RED) assay, we identified an expanded CAG/CTG repeat in a 50-year-old woman with an autosomal dominant syndrome with prominent progressive sensory ne...

journal_title：Human genetics

authors： Holmes SE,Wentzell JS,Seixas AI,Callahan C,Silveira I,Ross CA,Margolis RL

更新日期：2006-09-01 00:00:00

abstract：:The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA methylation. Dysregulation of these genes causes a range of disorders affecting pre- and post-natal growth and neurological function. We investigated a cohort o...

journal_title：Human genetics

authors： Mackay DJ,Boonen SE,Clayton-Smith J,Goodship J,Hahnemann JM,Kant SG,Njølstad PR,Robin NH,Robinson DO,Siebert R,Shield JP,White HE,Temple IK

更新日期：2006-09-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a rare oligogenic disorder exhibiting both clinical and genetic heterogeneity. Although the BBS phenotype is variable both between and within families, the syndrome is characterized by the hallmarks of developmental and learning difficulties, post-axial polydactylia, obesity, hypogenital...

journal_title：Human genetics

authors： Eichers ER,Abd-El-Barr MM,Paylor R,Lewis RA,Bi W,Lin X,Meehan TP,Stockton DW,Wu SM,Lindsay E,Justice MJ,Beales PL,Katsanis N,Lupski JR

更新日期：2006-09-01 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：:Human height is a complex trait regulated by multiple genetic and environmental factors. CYP19 (cytochrome P450 19) encodes aromatase, which catalyses the rate-limiting step in the conversion of androgens to estrogens. Deleterious mutations in CYP19 can result in estrogen deficiency that will influence adult height to...

journal_title：Human genetics

authors： Yang TL,Xiong DH,Guo Y,Recker RR,Deng HW

更新日期：2006-08-01 00:00:00

abstract：:Lower plasma levels of high-density lipoprotein cholesterol (HDL-C) are associated with the metabolic syndrome (insulin resistance, obesity, hypertension) and higher cardiovascular risk. Recent association studies have suggested rare alleles responsible for very low HDL-C levels. However, for individual cardiovascular...

journal_title：Human genetics

authors： Harrap SB,Wong ZY,Scurrah KJ,Lamantia A

更新日期：2006-06-01 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：:Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gonadotropins (FSH>40 U/L) occurring before the age of 40 years. Recent studies have elucidated the role of oocyte derived growth factors (BMP15 and GDF9) in maintenance of folliculogenesis, granulosa cell (GC) proliferatio...

journal_title：Human genetics

authors： Dixit H,Rao LK,Padmalatha VV,Kanakavalli M,Deenadayal M,Gupta N,Chakrabarty B,Singh L

更新日期：2006-05-01 00:00:00

abstract：:Most genetic studies recruit high risk families and the discoveries are based on non-random selected groups. We must consider the consequences of this ascertainment process in order to apply the results of genetic research to the general population. In previous reports, we developed a latent variable model to assess t...

journal_title：Human genetics

authors： Feng R,Zhang H

更新日期：2006-05-01 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respective...

journal_title：Human genetics

authors： Mackay DJ,Hahnemann JM,Boonen SE,Poerksen S,Bunyan DJ,White HE,Durston VJ,Thomas NS,Robinson DO,Shield JP,Clayton-Smith J,Temple IK

更新日期：2006-03-01 00:00:00

abstract：:Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the highly conserved splicing region are often found in hereditary nonpolyposis colorectal cancer (HNPCC) families. In order to use the variants for predictive test...

journal_title：Human genetics

authors： Pagenstecher C,Wehner M,Friedl W,Rahner N,Aretz S,Friedrichs N,Sengteller M,Henn W,Buettner R,Propping P,Mangold E

更新日期：2006-03-01 00:00:00

abstract：:Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of D4Z4 repeat on 4q35. It displays a remarkable inter- and intra-familial clinical variability ranging from severe phenotype to asymptomatic carriers. Mosaicism for the contracted FSHD-sized allele is a recurrent finding,...

journal_title：Human genetics

authors： Tonini MM,Lemmers RJ,Pavanello RC,Cerqueira AM,Frants RR,van der Maarel SM,Zatz M

更新日期：2006-03-01 00:00:00

abstract：:One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...

journal_title：Human genetics

authors： Ribas G,González-Neira A,Salas A,Milne RL,Vega A,Carracedo B,González E,Barroso E,Fernández LP,Yankilevich P,Robledo M,Carracedo A,Benítez J

更新日期：2006-02-01 00:00:00

abstract：:Qualitative and quantitative defects in human germ cell production that result in infertility are common and determined at least in part by genetic factors [Matzuk and Lamb, Nat Cell Biol 4(Suppl):s41-s49, 2002]. Yet, very few genes that are associated with germ cell defects in humans have been identified. In this stu...

journal_title：Human genetics

authors： Tung JY,Rosen MP,Nelson LM,Turek PJ,Witte JS,Cramer DW,Cedars MI,Pera RA

更新日期：2006-02-01 00:00:00

abstract：:Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...

journal_title：Human genetics

authors： Tsai HJ,Kho JY,Shaikh N,Choudhry S,Naqvi M,Navarro D,Matallana H,Castro R,Lilly CM,Watson HG,Meade K,Lenoir M,Thyne S,Ziv E,Burchard EG

更新日期：2006-01-01 00:00:00

abstract：:Inherited dilated cardiomyopathy (DCM) is a genetically and phenotypically very heterogeneous disease. DCM is caused by mutations in multiple genes encoding proteins that are involved in force generation, force transmission, energy production and several signalling pathways. Thus, the pathophysiology of heart failure ...

journal_title：Human genetics

authors： Schönberger J,Kühler L,Martins E,Lindner TH,Silva-Cardoso J,Zimmer M

更新日期：2005-12-01 00:00:00

abstract：:Genetic anticipation is the increased incidence, earlier onset, or increased severity of a disease in successive generations. Before the biological basis of anticipation had been demonstrated, the phenomenon was thought to be due to sampling bias, epigenetic effects, gene conversion, or recombinant events. Since then,...

journal_title：Human genetics

authors： Brown BW,Costello TJ,Hwang SJ,Strong LC

更新日期：2005-12-01 00:00:00

abstract：:A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early childhood, early complete loss of useful vision, and typical RP fundus changes plus macular deg...

journal_title：Human genetics

authors： Zhang Q,Zulfiqar F,Xiao X,Riazuddin SA,Ayyagari R,Sabar F,Caruso R,Sieving PA,Riazuddin S,Hejtmancik JF

更新日期：2005-12-01 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：:Schwannomas may develop sporadically or in association with NF2 and schwannomatosis. The fundamental aberration in schwannomas is the bi-allelic inactivation of the NF2 gene. However, clinical and molecular data suggest that these tumors share a common pathogenetic mechanism related to as yet undefined 22q-loci. Linka...

journal_title：Human genetics

authors： Díaz de Ståhl T,Hansson CM,de Bustos C,Mantripragada KK,Piotrowski A,Benetkiewicz M,Jarbo C,Wiklund L,Mathiesen T,Nyberg G,Collins VP,Evans DG,Ichimura K,Dumanski JP

更新日期：2005-10-01 00:00:00

abstract：:Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders and occurs in its non-classical form in up to 6% of hirsute women. We report on a young woman with the clinical diagnosis of non-classical CAH and a novel, heterozygous missense mutation CTG-->...

journal_title：Human genetics

authors： Bojunga J,Welsch C,Antes I,Albrecht M,Lengauer T,Zeuzem S

更新日期：2005-10-01 00:00:00

abstract：:We have investigated the chromosome abnormalities in a female patient exhibiting a severe cognitive disability associated with complete agenesis of the corpus callosum and microcephaly. The patient carries a balanced de novo translocation t(2;14)(p22;q12), together with a neighbouring 720 kb inversion in chromosome 14...

journal_title：Human genetics

authors： Shoichet SA,Kunde SA,Viertel P,Schell-Apacik C,von Voss H,Tommerup N,Ropers HH,Kalscheuer VM

更新日期：2005-10-01 00:00:00

abstract：:Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for it...

journal_title：Human genetics

authors： Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE

更新日期：2005-10-01 00:00:00

abstract：:Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control,...

journal_title：Human genetics

authors： Babaei M,Mitui M,Olson ER,Gatti RA

更新日期：2005-07-01 00:00:00

abstract：:Human and chimpanzee karyotypes differ by virtue of nine pericentric inversions that serve to distinguish human chromosomes 1, 4, 5, 9, 12, 15, 16, 17, and 18 from their chimpanzee orthologues. In this study, we have analysed the breakpoints of the pericentric inversion characteristic of chimpanzee chromosome 4, the h...

journal_title：Human genetics

authors： Szamalek JM,Goidts V,Chuzhanova N,Hameister H,Cooper DN,Kehrer-Sawatzki H

更新日期：2005-07-01 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：:Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 128 Chinese pediatric subjects with sporadic aminoglycoside-induced and non-syndromic hearing loss. We show that aminoglycoside...

journal_title：Human genetics

authors： Li Z,Li R,Chen J,Liao Z,Zhu Y,Qian Y,Xiong S,Heman-Ackah S,Wu J,Choo DI,Guan MX

更新日期：2005-06-01 00:00:00

abstract：:Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. S...

journal_title：Human genetics

authors： Yoshida S,Yamaji Y,Yoshida A,Noda Y,Kumano Y,Ishibashi T

更新日期：2005-05-01 00:00:00

abstract：:Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...

journal_title：Human genetics

authors： Kehrer-Sawatzki H,Kluwe L,Fünsterer C,Mautner VF

更新日期：2005-05-01 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) is associated with overexpression of an imprinted locus on chromosome 6q24; this locus contains a differentially methylated region (DMR) consisting of an imprinted CpG island that normally allows expression only from the paternal allele of genes under its control. Three type...

journal_title：Human genetics

authors： Mackay DJ,Temple IK,Shield JP,Robinson DO

更新日期：2005-03-01 00:00:00

abstract：:A meta-analysis assessed whether the Ala45Thr polymorphism of the neurogenic differentiation 1 (NEUROD1) gene is associated with increased risk of diabetes mellitus type 1 (T1D) or type 2 (T2D). Fourteen case-control studies were analyzed, including genotype data on 3,057 patients with diabetes (T1D n=1,213, T2D n=1,8...

journal_title：Human genetics

authors： Kavvoura FK,Ioannidis JP

更新日期：2005-02-01 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：:With the recent advances in genomic research, it has become apparent that a substantial part of human malformation and mental retardation is caused by imbalances in genomic content. Thus, there is an increasing need for versatile methods allowing a detailed mapping and cloning of the actual rearrangements. We have com...

journal_title：Human genetics

authors： Dunø M,Hove H,Kirchhoff M,Devriendt K,Schwartz M

更新日期：2004-11-01 00:00:00

abstract：:To determine whether the CLCA gene family of calcium-activated chloride channels is a modulator of the basic defect of cystic fibrosis (CF), an association study was performed with polymorphic microsatellite markers covering a 40-Mbp region spanning the CLCA gene locus on human chromosome 1p in CF patients displaying ...

journal_title：Human genetics

authors： Ritzka M,Stanke F,Jansen S,Gruber AD,Pusch L,Woelfl S,Veeze HJ,Halley DJ,Tümmler B

更新日期：2004-11-01 00:00:00

abstract：:Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifes...

journal_title：Human genetics

authors： Rannan-Eliya SV,Taylor IB,De Heer IM,Van Den Ouweland AM,Wall SA,Wilkie AO

更新日期：2004-08-01 00:00:00

abstract：:Many recent studies have established that haplotype diversity in a small region may not be greatly diminished when the number of markers is reduced to a smaller set of "haplotype-tagging" single-nucleotide polymorphisms (SNPs) that identify the most common haplotypes. These studies are motivated by the assumption that...

journal_title：Human genetics

authors： Zhang W,Collins A,Morton NE

更新日期：2004-07-01 00:00:00

abstract：:The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease (PD), but no mutations have been identified in genes encoding complex I subunits. Recent studies have suggested that polymorphisms in mitochondrial DNA (mtDNA)-encoded complex I genes (M...

journal_title：Human genetics

authors： Autere J,Moilanen JS,Finnilä S,Soininen H,Mannermaa A,Hartikainen P,Hallikainen M,Majamaa K

更新日期：2004-06-01 00:00:00

abstract：:To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...

journal_title：Human genetics

authors： Yang W,Huang J,Ge D,Yao C,Duan X,Shen Y,Qiang B,Gu D

更新日期：2004-06-01 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：:Wegener's granulomatosis (WG) is a systemic disease with complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis and the presence of antineutrophil cytoplasmatic autoantibodies (C-ANCAs) in sera of patients. Here...

journal_title：Human genetics

authors： Jagiello P,Gencik M,Arning L,Wieczorek S,Kunstmann E,Csernok E,Gross WL,Epplen JT

更新日期：2004-04-01 00:00:00