A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.

abstract：:We present a systematic review of pleiotropy among SNPs and genes reported to show genome-wide association with common complex diseases and traits. We find abundant evidence of pleiotropy; 233 (16.9%) genes and 77 (4.6%) SNPs show pleiotropic effects. SNP pleiotropic status was associated with gene location (p = 0.024...

journal_title：American journal of human genetics

authors： Sivakumaran S,Agakov F,Theodoratou E,Prendergast JG,Zgaga L,Manolio T,Rudan I,McKeigue P,Wilson JF,Campbell H

更新日期：2011-11-11 00:00:00

abstract：:The AIMilano apoprotein variant is associated with a marked reduction of high density lipoprotein (HDL) cholesterol levels and with increased triglyceridemia. In spite of the low HDL-cholesterol (HDL-Ch), carriers do not generally show clinical signs of atherosclerosis. The biochemical disorder is linked to a molecula...

journal_title：American journal of human genetics

authors： Gualandri V,Franceschini G,Sirtori CR,Gianfranceschi G,Orsini GB,Cerrone A,Menotti A

更新日期：1985-11-01 00:00:00

abstract：:A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic factors for CAD by linkage analysis. We performed a genomewide sc...

journal_title：American journal of human genetics

authors： Hauser ER,Crossman DC,Granger CB,Haines JL,Jones CJ,Mooser V,McAdam B,Winkelmann BR,Wiseman AH,Muhlestein JB,Bartel AG,Dennis CA,Dowdy E,Estabrooks S,Eggleston K,Francis S,Roche K,Clevenger PW,Huang L,Pedersen B,S

更新日期：2004-09-01 00:00:00

abstract：:The gene has been proposed as an attractive unit of analysis for association studies, but a simple yet valid, powerful, and sufficiently fast method of evaluating the statistical significance of all genes in large, genome-wide datasets has been lacking. Here we propose the use of an extended Simes test that integrates...

journal_title：American journal of human genetics

authors： Li MX,Gui HS,Kwan JS,Sham PC

更新日期：2011-03-11 00:00:00

abstract：:Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsen...

journal_title：American journal of human genetics

authors： Gazda HT,Grabowska A,Merida-Long LB,Latawiec E,Schneider HE,Lipton JM,Vlachos A,Atsidaftos E,Ball SE,Orfali KA,Niewiadomska E,Da Costa L,Tchernia G,Niemeyer C,Meerpohl JJ,Stahl J,Schratt G,Glader B,Backer K,Wong C,

更新日期：2006-12-01 00:00:00

abstract：:Spinal Muscular Atrophy (SMA) is an inherited degenerative disorder of anterior horn cells that results in progressive muscle weakness and atrophy. The autosomal recessive forms of childhood-onset SMA have been mapped to chromosome 5q11.2-13.3, in a number of studies examining different populations. A total of 9 simpl...

journal_title：American journal of human genetics

authors： Brzustowicz LM,Wang CH,Matseoane D,Kleyn PW,Vitale E,Das K,Penchaszadeh GK,Munsat TL,Hausmanowa-Petrusewicz I,Gilliam TC

更新日期：1995-01-01 00:00:00

abstract：:The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystro...

journal_title：American journal of human genetics

authors： Goldman A,Ramsay M,Jenkins T

更新日期：1995-06-01 00:00:00

abstract：:Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter...

journal_title：American journal of human genetics

authors： Cook EH Jr,Stein MA,Krasowski MD,Cox NJ,Olkon DM,Kieffer JE,Leventhal BL

更新日期：1995-04-01 00:00:00

abstract：:Utilizing a fluorescent technique for the localization of transglutaminase activity after electrophoresis on thin layer agarose gels, we observed a new polymorphism of coagulation factor XIII in both platelets and plasma. The electrophoretic pattern was that of a dimeric protein. Homozygotes gave a single band, while ...

journal_title：American journal of human genetics

authors： Board PG

更新日期：1979-03-01 00:00:00

abstract：:Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE). The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmis...

journal_title：American journal of human genetics

authors： Müller B,Hedrich K,Kock N,Dragasevic N,Svetel M,Garrels J,Landt O,Nitschke M,Pramstaller PP,Reik W,Schwinger E,Sperner J,Ozelius L,Kostic V,Klein C

更新日期：2002-12-01 00:00:00

abstract：:Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. Here, we ...

journal_title：American journal of human genetics

authors： Richard G,Rouan F,Willoughby CE,Brown N,Chung P,Ryynänen M,Jabs EW,Bale SJ,DiGiovanna JJ,Uitto J,Russell L

更新日期：2002-05-01 00:00:00

abstract：:An expanded G4C2 repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the lower limit for pathological expansions is unknown (the suggested cutoff is 30 repeats). It has been proposed that the expansion might have...

journal_title：American journal of human genetics

authors： Xi Z,van Blitterswijk M,Zhang M,McGoldrick P,McLean JR,Yunusova Y,Knock E,Moreno D,Sato C,McKeever PM,Schneider R,Keith J,Petrescu N,Fraser P,Tartaglia MC,Baker MC,Graff-Radford NR,Boylan KB,Dickson DW,Mackenzie IR

更新日期：2015-06-04 00:00:00

abstract：:Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosyn...

journal_title：American journal of human genetics

authors： Robert-Richard E,Moreau-Gaudry F,Lalanne M,Lamrissi-Garcia I,Cario-André M,Guyonnet-Dupérat V,Taine L,Ged C,de Verneuil H

更新日期：2008-01-01 00:00:00

abstract：:The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant ...

journal_title：American journal of human genetics

authors： Bruder CE,Piotrowski A,Gijsbers AA,Andersson R,Erickson S,Diaz de Ståhl T,Menzel U,Sandgren J,von Tell D,Poplawski A,Crowley M,Crasto C,Partridge EC,Tiwari H,Allison DB,Komorowski J,van Ommen GJ,Boomsma DI,Pedersen NL

更新日期：2008-03-01 00:00:00

abstract：:Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of multiple nervous-system tumors in young adulthood. The NF2 gene has recently been isolated and found to encode a new member of the protein 4.1 family of cytoskeletal associated proteins, which we have named merlin. To define the molecu...

journal_title：American journal of human genetics

authors： MacCollin M,Ramesh V,Jacoby LB,Louis DN,Rubio MP,Pulaski K,Trofatter JA,Short MP,Bove C,Eldridge R

更新日期：1994-08-01 00:00:00

abstract：:Gyrate atrophy of the choroid and retina that is due to ornithine ketoacid transaminase (OKT) deficiency is an autosomal recessive disorder. Fibroblasts from heterozygotes for the pyridoxine-responsive variant as well as those for the pyridoxine-nonresponsive variant contain intermediate levels of OKT activity. These ...

journal_title：American journal of human genetics

authors： Shih VE,Mandell R,Berson EL

更新日期：1988-12-01 00:00:00

abstract：:A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A mutation converts an alanine to a threonine at the 52d codon of the gene. The mutation also abolishes an AhaII restriction site and thus...

journal_title：American journal of human genetics

authors： Huoponen K,Vilkki J,Aula P,Nikoskelainen EK,Savontaus ML

更新日期：1991-06-01 00:00:00

abstract：:To detect heterozygotes for maple-syrup-urine disease (MSUD), activities of branched-chain-alpha-ketoacid (BCKA) dehydrogenase and its components in skin fibroblasts of two obligatory heterozygotes and amnion cells of a fetus at risk were measured. Intact heterozygous cells were found to decarboxylate [1-14C] alpha-ke...

journal_title：American journal of human genetics

authors： Chuang DT,Ku LS,Kerr DS,Cox RP

更新日期：1982-05-01 00:00:00

abstract：:Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, inc...

journal_title：American journal of human genetics

authors： Ghassibe-Sabbagh M,Desmyter L,Langenberg T,Claes F,Boute O,Bayet B,Pellerin P,Hermans K,Backx L,Mansilla MA,Imoehl S,Nowak S,Ludwig KU,Baluardo C,Ferrian M,Mossey PA,Noethen M,Dewerchin M,François G,Revencu N,Vanw

更新日期：2011-02-11 00:00:00

abstract：:The sib-pair interval-mapping procedure of Fulker and Cardon is extended to take account of all available marker information on a chromosome simultaneously. The method provides a computationally fast multipoint analysis of sib-pair data, using a modified Haseman-Elston approach. It gives results very similar to those ...

journal_title：American journal of human genetics

authors： Fulker DW,Cherny SS,Cardon LR

更新日期：1995-05-01 00:00:00

abstract：:The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microde...

journal_title：American journal of human genetics

authors： Potocki L,Bi W,Treadwell-Deering D,Carvalho CM,Eifert A,Friedman EM,Glaze D,Krull K,Lee JA,Lewis RA,Mendoza-Londono R,Robbins-Furman P,Shaw C,Shi X,Weissenberger G,Withers M,Yatsenko SA,Zackai EH,Stankiewicz P,Lupsk

更新日期：2007-04-01 00:00:00

abstract：:Elsewhere we have reported an efficient method for isolating VNTR (Variable Number of Tandem Repeats) markers. Several of the VNTR markers isolated in those experiments were sequenced, and a DNA sequence of 9 bp (GNNGTGGG) emerged as an apparent consensus sequence for VNTR markers. To confirm this result and to develo...

journal_title：American journal of human genetics

authors： Nakamura Y,Carlson M,Krapcho K,Kanamori M,White R

更新日期：1988-12-01 00:00:00

abstract：:We have identified a new mutation in mtDNA, involving tRNALeu(CUN) in a patient manifesting an isolated skeletal myopathy. This heteroplasmic A-->G transition at position 12320 affects the T psi C loop at a conserved site and was not found in 120 controls. Analysis of cultured fibroblasts, white blood cells/platelets,...

journal_title：American journal of human genetics

authors： Weber K,Wilson JN,Taylor L,Brierley E,Johnson MA,Turnbull DM,Bindoff LA

更新日期：1997-02-01 00:00:00

abstract：:The cloning of the CFTR gene has made it technically possible to avert the unwanted birth of a child with cystic fibrosis (CF). Several large trials offering prenatal CF carrier screening suggest that such screening is practical and that identified carriers generally use the information obtained. Therefore, a critical...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Kaplan RM

更新日期：1998-10-01 00:00:00

abstract：:The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of four markers in the FSHD families and in 40 multigenerational mapping ...

journal_title：American journal of human genetics

authors： Weiffenbach B,Bagley R,Falls K,Hyser C,Storvick D,Jacobsen SJ,Schultz P,Mendell J,Willems van Dijk K,Milner EC

更新日期：1992-08-01 00:00:00

abstract：:The genetic map in the region of human chromosome 7 that harbors the gene for cystic fibrosis (CF) has been refined by multilocus linkage studies in an expanded database including a large set of normal families. Six loci known to be linked to CF were examined: MET, an oncogene; COL1A2, collagen, TCRB, T-cell-receptor ...

journal_title：American journal of human genetics

authors： Lathrop GM,Farrall M,O'Connell P,Wainwright B,Leppert M,Nakamura Y,Lench N,Kruyer H,Dean M,Park M

更新日期：1988-01-01 00:00:00

abstract：:Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal role in EDS types I and II, which show phenotypic overlap and may sometimes be allelic. Type V collagen can exist as a h...

journal_title：American journal of human genetics

authors： Burrows NP,Nicholls AC,Richards AJ,Luccarini C,Harrison JB,Yates JR,Pope FM

更新日期：1998-08-01 00:00:00

abstract：:The opportunity raised by recombinant DNA technology to develop a linkage marker panel that spans the human genome requires cost-efficient strategies for its optimal utilization. Questions arise as to whether it is more cost-effective to convert a dimorphic restriction enzyme marker system into a highly polymorphic sy...

journal_title：American journal of human genetics

authors： Wong FL,Cantor RM,Rotter JI

更新日期：1986-07-01 00:00:00

abstract：:Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of D...

journal_title：American journal of human genetics

authors： White JJ,Mazzeu JF,Hoischen A,Bayram Y,Withers M,Gezdirici A,Kimonis V,Steehouwer M,Jhangiani SN,Muzny DM,Gibbs RA,Baylor-Hopkins Center for Mendelian Genomics.,van Bon BWM,Sutton VR,Lupski JR,Brunner HG,Carvalho CMB

更新日期：2016-03-03 00:00:00

abstract：:Diffuse panbronchiolitis affecting East Asians is strongly associated with the class I human leukocyte antigen (HLA) alleles. Recent observations suggest that a major disease-susceptibility gene may be located between the HLA-B and HLA-A loci in the class I region of the major histocompatibility complex on chromosome ...

journal_title：American journal of human genetics

authors： Keicho N,Ohashi J,Tamiya G,Nakata K,Taguchi Y,Azuma A,Ohishi N,Emi M,Park MH,Inoko H,Tokunaga K,Kudoh S

更新日期：2000-02-01 00:00:00