A high-density screen for linkage in multiple sclerosis.

abstract：:The National Research Council recommended the use of the ceiling principle in forensic applications of DNA testing on the grounds that the ceiling principle was believed to be "conservative," giving estimates greater than or equal to the actual genotype frequencies in the appropriate reference population. We show here...

journal_title：American journal of human genetics

authors： Slimowitz JR,Cohen JE

更新日期：1993-08-01 00:00:00

abstract：:During the course of prenatal diagnosis for beta-thalassemia in Chinese patients, we encountered a mutation that was not detectable by oligonucleotides for the known Chinese mutations. Amplification of the beta-globin gene by the polymerase chain reaction and direct DNA sequencing revealed a previously undescribed -30...

journal_title：American journal of human genetics

authors： Cai SP,Zhang JZ,Doherty M,Kan YW

更新日期：1989-07-01 00:00:00

abstract：:Knowledge of the number of causative loci is necessary to estimate the power of mapping studies of complex diseases. In the present article, we reexamine a theory developed by Risch and its implications for estimating the number L of causative loci affecting a complex inherited disease. We first show that methods base...

journal_title：American journal of human genetics

authors： Schliekelman P,Slatkin M

更新日期：2002-12-01 00:00:00

abstract：:In this paper we present linkage results from the analysis of 18 Utah breast cancer kindreds, for three 17q markers. Four kindreds had LOD scores greater than 1.0 for at least one of the marker loci. One of these kindreds has a LOD score of 6.07 with D17S579, and we believe it to be the most informative 17q family rep...

journal_title：American journal of human genetics

authors： Goldgar DE,Cannon-Albright LA,Oliphant A,Ward JH,Linker G,Swensen J,Tran TD,Fields P,Uharriet P,Skolnick MH

更新日期：1993-04-01 00:00:00

abstract：:Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomotor apraxia, polydactyly, and s...

journal_title：American journal of human genetics

authors： Shaheen R,Jiang N,Alzahrani F,Ewida N,Al-Sheddi T,Alobeid E,Musaev D,Stanley V,Hashem M,Ibrahim N,Abdulwahab F,Alshenqiti A,Sonmez FM,Saqati N,Alzaidan H,Al-Qattan MM,Al-Mohanna F,Gleeson JG,Alkuraya FS

更新日期：2019-04-04 00:00:00

abstract：:Studies of adult female carriers of the fragile X chromosome indicate that certain psychological problems occur with a greater frequency and severity than expected. This study examines the association of parental origin of the fragile X chromosome and of fragility detected in the karyotype with measures of social, edu...

journal_title：American journal of human genetics

authors： Reiss AL,Freund L,Vinogradov S,Hagerman R,Cronister A

更新日期：1989-11-01 00:00:00

abstract：:Esterase D (EsD), purified from human erythrocytes and tested with a variety of substrates, hydrolyzed only triacetin, tributyrin, and certain soluble aryl esters of aliphatic acids. Esters of 4-methylumbelliferone were easily the best substrates. When the three genetically different isozymes were compared, the less c...

journal_title：American journal of human genetics

authors： Scott EM,Wright RC

更新日期：1978-01-01 00:00:00

abstract：:Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals w...

journal_title：American journal of human genetics

authors： Assoum M,Philippe C,Isidor B,Perrin L,Makrythanasis P,Sondheimer N,Paris C,Douglas J,Lesca G,Antonarakis S,Hamamy H,Jouan T,Duffourd Y,Auvin S,Saunier A,Begtrup A,Nowak C,Chatron N,Ville D,Mireskandari K,Milani P

更新日期：2016-12-01 00:00:00

abstract：:Criteria and rules are derived for the most statistically efficient sampling of relatives of affected probands under a simple class of standard genetic models. Results show that the optimal relative type depends on the alternative hypotheses of particular interest. Thus, there is no uniformly optimal strategy, but the...

journal_title：American journal of human genetics

authors： Thompson EA

更新日期：1981-11-01 00:00:00

abstract：:Gilles de la Tourette syndrome (GTS) is characterized by multiple motor and phonic tics and high comorbidity rates with other neurobehavioral disorders. It is hypothesized that frontal-subcortical pathways and a complex genetic background are involved in the etiopathogenesis of the disorder. The genetic basis of GTS r...

journal_title：American journal of human genetics

authors： Paschou P,Feng Y,Pakstis AJ,Speed WC,DeMille MM,Kidd JR,Jaghori B,Kurlan R,Pauls DL,Sandor P,Barr CL,Kidd KK

更新日期：2004-10-01 00:00:00

abstract：:Height has been used for more than a century as a model by which to understand quantitative genetic variation in humans. We report that the entire genome appears to contribute to its additive genetic variance. We used genotypes and phenotypes of 11,214 sibling pairs from three countries to partition additive genetic v...

journal_title：American journal of human genetics

authors： Visscher PM,Macgregor S,Benyamin B,Zhu G,Gordon S,Medland S,Hill WG,Hottenga JJ,Willemsen G,Boomsma DI,Liu YZ,Deng HW,Montgomery GW,Martin NG

更新日期：2007-11-01 00:00:00

abstract：:The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene (RYR) to the proximal long arm of human chromosome 19. Studies with additional hybrids containing deletions or translocati...

journal_title：American journal of human genetics

authors： MacKenzie AE,Korneluk RG,Zorzato F,Fujii J,Phillips M,Iles D,Wieringa B,Leblond S,Bailly J,Willard HF

更新日期：1990-06-01 00:00:00

abstract：:Ankylosing spondylitis (AS) is a common inflammatory arthritis predominantly affecting the axial skeleton. Susceptibility to the disease is thought to be oligogenic. To identify the genes involved, we have performed a genomewide scan in 185 families containing 255 affected sibling pairs. Two-point and multipoint nonpa...

journal_title：American journal of human genetics

authors： Laval SH,Timms A,Edwards S,Bradbury L,Brophy S,Milicic A,Rubin L,Siminovitch KA,Weeks DE,Calin A,Wordsworth BP,Brown MA

更新日期：2001-04-01 00:00:00

abstract：:Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type IIa is a 1-bp deletion, described as "2299delG," in the USH2A gene. The mutation has been identifie...

journal_title：American journal of human genetics

authors： Dreyer B,Tranebjaerg L,Brox V,Rosenberg T,Möller C,Beneyto M,Weston MD,Kimberling WJ,Cremers CW,Liu XZ,Nilssen O

更新日期：2001-07-01 00:00:00

abstract：:A clinical description of an apparently classical case of type 1 GM1 gangliosidosis is presented. The patient was the first-born child of first cousins. She was diagnosed at 6 weeks and died at 6 months. beta-Galactosidase activity was deficient in cultured fibroblasts using [3H]GM1 ganglioside and [3H]ceramide-lactos...

journal_title：American journal of human genetics

authors： Gravel RA,Lowden JA,Callahan JW,Wolfe LS,Ng Yin Kin NM

更新日期：1979-11-01 00:00:00

abstract：:To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibili...

journal_title：American journal of human genetics

authors： Walkup JT,LaBuda MC,Singer HS,Brown J,Riddle MA,Hurko O

更新日期：1996-09-01 00:00:00

abstract：:Myotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region. Significant linkage has subsequently been established for the linkage group comprised of DXS304, DXS15, DXS52, and F8C in several studies....

journal_title：American journal of human genetics

authors： Samson F,Mesnard L,Heimburger M,Hanauer A,Chevallay M,Mercadier JJ,Pelissier JF,Feingold N,Junien C,Mandel JL

更新日期：1995-07-01 00:00:00

abstract：:The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, ...

journal_title：American journal of human genetics

authors： Monrós E,Moltó MD,Martínez F,Cañizares J,Blanca J,Vílchez JJ,Prieto F,de Frutos R,Palau F

更新日期：1997-07-01 00:00:00

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：:Lysinuric protein intolerance (LPI) is an autosomal recessive disease characterized by defective transport of cationic amino acids and by hyperammonemia. Linkage analysis in 20 Finnish LPI families assigned the LPI gene locus to the proximal long arm of chromosome 14. Recombinations placed the locus between framework ...

journal_title：American journal of human genetics

authors： Lauteala T,Sistonen P,Savontaus ML,Mykkänen J,Simell J,Lukkarinen M,Simell O,Aula P

更新日期：1997-06-01 00:00:00

abstract：:Recent studies have suggested that a significant fraction of the human genome is contained in blocks of strong linkage disequilibrium, ranging from ~5 to >100 kb in length, and that within these blocks a few common haplotypes may account for >90% of the observed haplotypes. Furthermore, previous studies have suggested...

journal_title：American journal of human genetics

authors： Crawford DC,Carlson CS,Rieder MJ,Carrington DP,Yi Q,Smith JD,Eberle MA,Kruglyak L,Nickerson DA

更新日期：2004-04-01 00:00:00

abstract：:Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of...

journal_title：American journal of human genetics

authors： Daly SB,Urquhart JE,Hilton E,McKenzie EA,Kammerer RA,Lewis M,Kerr B,Stuart H,Donnai D,Long DA,Burgu B,Aydogdu O,Derbent M,Garcia-Minaur S,Reardon W,Gener B,Shalev S,Smith R,Woolf AS,Black GC,Newman WG

更新日期：2010-06-11 00:00:00

abstract：:Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohor...

journal_title：American journal of human genetics

authors： Pehlivan D,Bayram Y,Gunes N,Coban Akdemir Z,Shukla A,Bierhals T,Tabakci B,Sahin Y,Gezdirici A,Fatih JM,Gulec EY,Yesil G,Punetha J,Ocak Z,Grochowski CM,Karaca E,Albayrak HM,Radhakrishnan P,Erdem HB,Sahin I,Yildirim

更新日期：2019-07-03 00:00:00

abstract：:Structural variations are among the most frequent interindividual genetic differences in the human genome. The frequency and distribution of de novo somatic structural variants in normal cells is, however, poorly explored. Using age-stratified cohorts of 318 monozygotic (MZ) twins and 296 single-born subjects, we desc...

journal_title：American journal of human genetics

authors： Forsberg LA,Rasi C,Razzaghian HR,Pakalapati G,Waite L,Thilbeault KS,Ronowicz A,Wineinger NE,Tiwari HK,Boomsma D,Westerman MP,Harris JR,Lyle R,Essand M,Eriksson F,Assimes TL,Iribarren C,Strachan E,O'Hanlon TP,Rider L

更新日期：2012-02-10 00:00:00

abstract：:Association studies are one of the major strategies for identifying genetic factors underlying complex traits. In samples of related individuals, conventional statistical procedures are not valid for testing association, and maximum likelihood (ML) methods have to be used, but they are computationally demanding and ar...

journal_title：American journal of human genetics

authors： Trégouët DA,Ducimetière P,Tiret L

更新日期：1997-07-01 00:00:00

abstract：:The frequencies of the bromodeoxyuridine (BrdU)-requiring fragile site at 10q25 in 1,026 unselected neonates, 901 patients referred for chromosome studies, and 87 institutionalized retardates were not significantly different from each other. The gene frequency was .013, and the population was in Hardy-Weinberg equilib...

journal_title：American journal of human genetics

authors： Sutherland GR

更新日期：1982-09-01 00:00:00

abstract：:Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA). Sixty-four probands were analyzed for mutations in the ASPA gene. Three point mutations--693C-->A, 854A-->C, and 914C-->A--were identified in the coding sequence. The 693C-->A and 914C-->A base changes, resultin...

journal_title：American journal of human genetics

authors： Kaul R,Gao GP,Aloya M,Balamurugan K,Petrosky A,Michals K,Matalon R

更新日期：1994-07-01 00:00:00

abstract：:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...

journal_title：American journal of human genetics

authors： Ryynänen M,Knowlton RG,Uitto J

更新日期：1991-11-01 00:00:00

abstract：:ATM, the gene that is mutated in ataxia-telangiectasia, is associated with cerebellar degeneration, abnormal proliferation of small blood vessels, and cancer. These clinically important manifestations have stimulated interest in defining the sequence variation in the ATM gene. Therefore, we undertook a comprehensive s...

journal_title：American journal of human genetics

authors： Thorstenson YR,Shen P,Tusher VG,Wayne TL,Davis RW,Chu G,Oefner PJ

更新日期：2001-08-01 00:00:00

abstract：:Cigarette smoke, containing reactive oxygen species, is the most important risk factor for chronic pulmonary emphysema (CPE). Heme oxygenase-1 (HO-1) plays a protective role as an antioxidant in the lung. A (GT)n dinucleotide repeat in the 5'-flanking region of human HO-1 gene shows length polymorphism and could modul...

journal_title：American journal of human genetics

authors： Yamada N,Yamaya M,Okinaga S,Nakayama K,Sekizawa K,Shibahara S,Sasaki H

更新日期：2000-01-01 00:00:00