Integrating pathway analysis and genetics of gene expression for genome-wide association study of basal cell carcinoma.

abstract：:A study was conducted on the feasibility of isolating genes and pseudogenes that map to chromosome 13 by a hybridization-based approach using a 13-specific library and pools of repeat-free cDNA clones. Five pairs of cDNA and chromosome 13 genomic clones were identified and characterized. Partial or full-length sequenc...

journal_title：Human genetics

authors： de Fatima Bonaldo M,Jelenc P,Su L,Lawton L,Yu MT,Warburton D,Soares MB

更新日期：1996-04-01 00:00:00

abstract：:The GLI3 gene encodes a putative zinc finger transcription factor that is important in early vertebrate development. Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. In the course of studies to determine the etiolo...

journal_title：Human genetics

authors： Kang S,Rosenberg M,Ko VD,Biesecker LG

更新日期：1997-12-01 00:00:00

abstract：:Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S...

journal_title：Human genetics

authors： Keyeux G,Gilgenkrantz S,Lefranc G,Lefranc MP

更新日期：1989-06-01 00:00:00

abstract：:Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Aus...

journal_title：Human genetics

authors： Milne R,Morley KI,Howard H,Niemiec E,Nicol D,Critchley C,Prainsack B,Vears D,Smith J,Steed C,Bevan P,Atutornu J,Farley L,Goodhand P,Thorogood A,Kleiderman E,Middleton A,Participant Values Work Stream of the Global Allia

更新日期：2019-12-01 00:00:00

abstract：:Oocyte loss has a significant impact on fertility and somatic health. Yet, we know little about factors that impact this process. We sought to identify genetic variants associated with ovarian reserve (oocyte number as measured by antral follicle count, AFC). Based on recently published genome-wide scans that identifi...

journal_title：Human genetics

authors： Schuh-Huerta SM,Johnson NA,Rosen MP,Sternfeld B,Cedars MI,Reijo Pera RA

更新日期：2012-11-01 00:00:00

abstract：:To dissect the genetic architecture of sexual dimorphism in obesity-related traits, we evaluated the sex-genotype interaction, sex-specific heritability and genome-wide linkages for seven measurements related to obesity. A total of 1,365 non-diabetic Chinese subjects from the family study of the Stanford Asia-Pacific ...

journal_title：Human genetics

authors： Chiu YF,Chuang LM,Kao HY,Shih KC,Lin MW,Lee WJ,Quertermous T,Curb JD,Chen I,Rodriguez BL,Hsiung CA

更新日期：2010-11-01 00:00:00

abstract：:Lesch-Nyhan disease is a neurogenetic disorder caused by mutation of the HPRT1 gene on the X chromosome. There is significant variation in the clinical phenotype, with more than 300 different known mutations. There are few studies that have addressed whether similar mutations result in similar phenotypes across differ...

journal_title：Human genetics

authors： Sampat R,Fu R,Larovere LE,Torres RJ,Ceballos-Picot I,Fischbach M,de Kremer R,Schretlen DJ,Puig JG,Jinnah HA

更新日期：2011-01-01 00:00:00

abstract：:The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy ...

journal_title：Human genetics

authors： Li J,Iwamoto S,Sugimoto N,Okuda H,Kajii E

更新日期：1997-05-01 00:00:00

abstract：:A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in ...

journal_title：Human genetics

authors： Lenz W,Zygulska M,Horst J

更新日期：1993-05-01 00:00:00

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：:The Beckwith-Wiedemann syndrome (BWS) is characterised by multiple congenital abnormalities, including exomphalos, macroglossia, and gigantism. It is also associated with an elevated risk of embryonal neoplasia and occasionally with constitutional anomalies of chromosome band 11p15. A common pathogenetic mechanism for...

journal_title：Human genetics

authors： Little MH,Thomson DB,Hayward NK,Smith PJ

更新日期：1988-06-01 00:00:00

abstract：:The significance of short and long arm anomalies of chromosome 1 was investigated in 55 colorectal tumors comprising 41 carcinomas and 14 adenomas. The tumors were at various stages of transformation from adenoma to carcinoma. Our investigation was prompted by the observation of a p32-pter deletion on the short arm of...

journal_title：Human genetics

authors： Couturier-Turpin MH,Esnous C,Louvel A,Poirier Y,Couturier D

更新日期：1992-02-01 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

abstract：:De novo chromosome structural abnormalities cannot always be diagnosed by the use of standard cytogenetic techniques. We applied a previously developed chromosome-band-specific painting method to the diagnosis of such rearrangements. The diagnostic procedures consisted of microdissection of an aberrant chromosomal reg...

journal_title：Human genetics

authors： Ohta T,Tohma T,Soejima H,Fukushima Y,Nagai T,Yoshiura K,Jinno Y,Niikawa N

更新日期：1993-08-01 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：:To provide a more precise genetic map of the p22.3-p21.2 region on the short arm of the human X chromosome, we performed multilocus linkage studies in an expanded database including 31 retinoschisis families and 40 normal families. Twelve loci from this region were examined. Although significant lod scores were observ...

journal_title：Human genetics

authors： Alitalo T,Kruse TA,Ahrens P,Albertsen HM,Eriksson AW,de la Chapelle A

更新日期：1991-04-01 00:00:00

abstract：:Densitometric C-band measurements in chromosomes 1, 9, and 16 of 394 Indians and 40 Caucasoids living in Brazil are reported. No significant intratribal variability in the average length of these regions was observed, and the intertribal variation showed no consistent patterns. But the Caucasoids always presented lowe...

journal_title：Human genetics

authors： Erdtmann B,Salzano FM,Mattevi MS,Flores RZ

更新日期：1981-01-01 00:00:00

abstract：:A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of ...

journal_title：Human genetics

authors： Mononen T,Mononen I,Matilainen R,Airaksinen E

更新日期：1991-07-01 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：:Scapuloperoneal spinal muscular atrophy (SPSMA) is a neuromuscular disorder characterized by weakness in the distribution of shoulder girdle and peroneal muscles. We have previously described a large New England kindred with autosomal dominant SPSMA and have subsequently linked this family trait to 12q24.1-q24.31. In ...

journal_title：Human genetics

authors： Isozumi K,DeLong R,Kaplan J,Hung WY,Siddique T

更新日期：1997-06-01 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：:A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been ...

journal_title：Human genetics

authors： Bernheim A,Berger R,Vaugier G,Thieffry JC,Matet Y

更新日期：1979-04-17 00:00:00

abstract：:We have studied the allele frequency distribution of the microsatellite locus DYS19 in several populations with different geographical origins worldwide. Three new alleles were found. In addition, remarkable geographic and ethnic differences were observed in the allele frequency profiles and DNA marker (gene) diversit...

journal_title：Human genetics

authors： Santos FR,Gerelsaikhan T,Munkhtuja B,Oyunsuren T,Epplen JT,Pena SD

更新日期：1996-03-01 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：:Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular dis...

journal_title：Human genetics

authors： Graziano F,Biino G,Bonati MT,Neale BM,Do R,Concas MP,Vaccargiu S,Pirastu M,Terradura-Vagnarelli O,Cirillo M,Laurenzi M,Mancini M,Zanchetti A,Grassi M

更新日期：2019-07-01 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：:To elucidate genetic abnormalities in type I CD36 deficiency, we analyzed 28 Japanese subjects whose platelets and monocytes/macrophages lacked CD36 on their surface. We identified two novel mutations in the CD36 gene. One was a complex deletion/insertion mutation, in which 3 bp, GAG, were deleted at nucleotide (nt) 8...

journal_title：Human genetics

authors： Kashiwagi H,Tomiyama Y,Nozaki S,Kiyoi T,Tadokoro S,Matsumoto K,Honda S,Kosugi S,Kurata Y,Matsuzawa Y

更新日期：2001-06-01 00:00:00

abstract：:Postprandial triglyceridemia is an emerging risk factor for cardiovascular disease. However, most of the genes that influence postprandial triglyceridemia are not known. We evaluated whether a common nonsynonymous SNP rs1260326/P446L in the glucokinase regulatory protein (GCKR) gene influenced variation in the postpra...

journal_title：Human genetics

authors： Shen H,Pollin TI,Damcott CM,McLenithan JC,Mitchell BD,Shuldiner AR

更新日期：2009-10-01 00:00:00

abstract：:Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to ...

journal_title：Human genetics

authors： Gamazon ER,Stranger BE

更新日期：2014-06-01 00:00:00

abstract：:An analysis of 11 I Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, B65, HS2.43, HS3.23, and HS4.65) has been performed in several NW African (Northern, Western, and Southeastern Moroccans, Saharawi; Algerians; Tunisians) and Iberian (Basques, Catalans, and Andalusians) populations. Genetic distan...

journal_title：Human genetics

authors： Comas D,Calafell F,Benchemsi N,Helal A,Lefranc G,Stoneking M,Batzer MA,Bertranpetit J,Sajantila A

更新日期：2000-10-01 00:00:00