A genomics approach to females with infertility and recurrent pregnancy loss.

abstract：:Given that a large number of candidate genes coding for a tendency toward obesity have been identified and some findings have been replicated, we explored characteristics of those who would be most likely to obtain future genetic testing for this tendency. During a series of focus groups, obese respondents rated their...

journal_title：Human genetics

authors： Segal ME,Polansky M,Sankar P

更新日期：2007-01-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive fibrotic lung disorder of unknown etiology and unclear pathogenesis. Matrix metalloproteinase-1 (MMP-1) is strongly upregulated and may contribute to the abnormal remodeling that characterizes the disease. We conducted a case-control study of 130 IPF pat...

journal_title：Human genetics

authors： Checa M,Ruiz V,Montaño M,Velázquez-Cruz R,Selman M,Pardo A

更新日期：2008-12-01 00:00:00

abstract：:The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic ...

journal_title：Human genetics

authors： Gerber S,Rozet JM,Takezawa SI,dos Santos LC,Lopes L,Gribouval O,Penet C,Perrault I,Ducroq D,Souied E,Jeanpierre M,Romana S,Frézal J,Ferraz F,Yu-Umesono R,Munnich A,Kaplan J

更新日期：2000-09-01 00:00:00

abstract：:DyeDeoxy terminator cycle sequencing of allele-specific polymerase chain reaction products has shown that there is a highly polymorphic d(AAAAT) pentanucleotide repeat within the first intron of the human p53 gene. This provides a genetic marker for tumor suppressor p53 gene alterations. ...

journal_title：Human genetics

authors： Hahn M,Fislage R,Pingoud A

更新日期：1995-04-01 00:00:00

abstract：:A large partially inbred kindred segregating Tangier disease is analyzed for linkage to seventeen informative markers. Three criteria were developed to classify heterozygotes and each criterion's validity was subsequently evaluated by assessing the pedigree distribution of diagnoses for internal consistency. The resul...

journal_title：Human genetics

authors： Suarez BK,Schonfeld G,Sparkes RS

更新日期：1982-01-01 00:00:00

abstract：:Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysi...

journal_title：Human genetics

authors： Bikker H,van den Berg FM,Wolterman RA,de Vijlder JJ,Bolhuis PA

更新日期：1989-02-01 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：:Three Japanese glucose 6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD 'Mediterranean-like' had markedly decreased activity, normal electrophoretic mobility, low Km G6P, low Km NADP, increased utilization of all three substrate analogues (2-deoxy-G6P, Gal-6P, and deamino-NADP) and slightly decreased ...

journal_title：Human genetics

authors： Miwa SH,Nakashima K,Ono J,Fujii H,Suzuki E

更新日期：1977-05-10 00:00:00

abstract：:Dystrophin mRNA transcripts from the P (Purkinje) promoter were shown to be differentially expressed in human skeletal muscle, heart, and brain. The expression pattern was characteristic of tissue type and developmental stage. Polymerase chain reaction (PCR) analysis of the P promoter transcripts in adult skeletal mus...

journal_title：Human genetics

authors： Holder E,Maeda M,Bies RD

更新日期：1996-02-01 00:00:00

abstract：:Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings wh...

journal_title：Human genetics

authors： Fichera M,Failla P,Saccuzzo L,Miceli M,Salvo E,Castiglia L,Galesi O,Grillo L,Calì F,Greco D,Amato C,Romano C,Elia M

更新日期：2019-02-01 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：:It has been demonstrated that the genetic polymorphism of human serum orosomucoid (ORM) is controlled by polymorphic ORM1 and monomorphic ORM2 loci. In this study a Japanese family was encountered in which several members had puzzling electrophoretic patterns consisting of four bands. The ORM patterns were due to the ...

journal_title：Human genetics

authors： Yuasa I,Suenaga K,Umetsu K,Ito K,Robinet-Levy M

更新日期：1987-11-01 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：:A Taq1 polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accur...

journal_title：Human genetics

authors： Pasteris NG,Gorski JL

更新日期：1995-10-01 00:00:00

abstract：:As the ability to measure dense genetic markers approaches the limit of the DNA sequence itself, taking advantage of possible clustering of genetic variants in, and around, a gene would benefit genetic association analyses, and likely provide biological insights. The greatest benefit might be realized when multiple ra...

journal_title：Human genetics

authors： Schaid DJ,Sinnwell JP,McDonnell SK,Thibodeau SN

更新日期：2013-11-01 00:00:00

abstract：:Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5' UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X synd...

journal_title：Human genetics

authors： Nobile V,Palumbo F,Lanni S,Ghisio V,Vitali A,Castagnola M,Marzano V,Maulucci G,De Angelis C,De Spirito M,Pacini L,D'Andrea L,Ragno R,Stazi G,Valente S,Mai A,Chiurazzi P,Genuardi M,Neri G,Tabolacci E

更新日期：2020-02-01 00:00:00

abstract：:During the 8 year-period 1971-1978 inclusive, 268 newborn with Down's syndrome (DS) were ascertained in Wallonia (South Belgium). The chromosomes of all patients were analyzed. A standard trisomy 21 was observed in 259 cases (96.6%) and translocations in seven (2.6%). One mosaic (0.4%) and one case with a 47,XX,+21,5 ...

journal_title：Human genetics

authors： Koulischer L,Gillerot Y

更新日期：1980-01-01 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：:Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrela...

journal_title：Human genetics

authors： Goedde R,Sawcer S,Boehringer S,Miterski B,Sindern E,Haupts M,Schimrigk S,Compston A,Epplen JT

更新日期：2002-09-01 00:00:00

abstract：:Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct...

journal_title：Human genetics

authors： Hes F,Zewald R,Peeters T,Sijmons R,Links T,Verheij J,Matthijs G,Leguis E,Mortier G,van der Torren K,Rosman M,Lips C,Pearson P,van der Luijt R

更新日期：2000-04-01 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：:Chromosome investigation of 35 individuals with a 5p- karyotype and their families revealed the presence of 27 apparently terminal deletions, four interstitial deletions, and four translocations, including two familial cases. Four of the probands with simple deletions and one of the mother were mosaics. Unusual chromo...

journal_title：Human genetics

authors： Niebuhr E

更新日期：1978-06-09 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：:Segregation analysis of informative families for chromosome 6 markers confirmed the map order GLO--Bf--HLA-(B, C)--HLA-A, and, surprisingly, implies that PGM3 is more probably located on the HLA-A than on the HLA-B side of the linkage group. Therefore the map position of PGM3 should be reconsidered, i.e., more informa...

journal_title：Human genetics

authors： Schunter F,Wernet P,Kömpf J,Bissbort S,Göhler F

更新日期：1978-11-16 00:00:00

abstract：:We report here that a defect of the interleukin common gamma subunit (gamma c) in X-linked severe combined immunodeficiency (XSCID) previously known as a missense mutation resulted instead in exon skipping in a Japanese XSCID patient. The phenotype of the patient was consistent with that of typical XSCID, and his Epst...

journal_title：Human genetics

authors： Kanai N,Yanai F,Hirose S,Nibu K,Izuhara K,Tani T,Kubota T,Mitsudome A

更新日期：1999-01-01 00:00:00

abstract：:In situ hybridization experiments were carried out with two clones, YACG 35 and 2.8, which had been selected from two genomic libraries strongly enriched for the human Y chromosome. Besides the human Y chromosome, both sequences strongly hybridized to the human X chromosome, with few minor binding sites on autosomes. ...

journal_title：Human genetics

authors： Rappold GA,Cremer T,Cremer C,Back W,Bogenberger J,Cooke HJ

更新日期：1984-01-01 00:00:00

abstract：:We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...

journal_title：Human genetics

authors： Divoky V,Baysal E,Oner R,Cürük MA,Walker EL 3rd,Indrak K,Huisman TH

更新日期：1994-01-01 00:00:00

abstract：:A family with four 46,XX siblings affected by the pure gonadal dysgenesis syndrome is described. Inheritance is by an autosomal recessive gene limited to the female sex. ...

journal_title：Human genetics

authors： Nazareth HR,Farah LM,Cunha AJ,Vieira FJ

更新日期：1977-06-10 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：:To help unravel some of the early Eurasian steppe migration movements, we determined the Y-chromosomal and mitochondrial haplotypes and haplogroups of 26 ancient human specimens from the Krasnoyarsk area dated from between the middle of the second millennium BC. to the fourth century AD. In order to go further in the ...

journal_title：Human genetics

authors： Keyser C,Bouakaze C,Crubézy E,Nikolaev VG,Montagnon D,Reis T,Ludes B

更新日期：2009-09-01 00:00:00