A linkage study of cystic fibrosis in extended multigenerational pedigrees.

abstract：:Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other coun...

journal_title：American journal of human genetics

authors： Dougherty MJ

更新日期：2009-07-01 00:00:00

abstract：:Culture of human amniotic-fluid cells from cases of fetal neural tube defects produces a population of rapidly adhering cells that were initially thought to be macrophages and later interpreted to be of neural origin. In this study double and triple labeling systems for the simultaneous detection of glial and macropha...

journal_title：American journal of human genetics

authors： Polgár K,Adány R,Abel G,Kappelmayer J,Muszbek L,Papp Z

更新日期：1989-11-01 00:00:00

abstract：:Each year at the annual meeting of The American Society of Human Genetics (ASHG), addresses are given in honor of the Society and a number of award winners. A summary of each of these is provided below. On the following pages, we have printed the Presidential Address as well as the addresses for the William Allan Awar...

journal_title：American journal of human genetics

authors：

更新日期：2019-03-07 00:00:00

abstract：:Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed behavioral disorder in childhood and likely represents an extreme of normal behavior. ADHD significantly impacts learning in school-age children and leads to impaired functioning throughout the life span. There is strong evidence for a gene...

journal_title：American journal of human genetics

authors： Smalley SL,Kustanovich V,Minassian SL,Stone JL,Ogdie MN,McGough JJ,McCracken JT,MacPhie IL,Francks C,Fisher SE,Cantor RM,Monaco AP,Nelson SF

更新日期：2002-10-01 00:00:00

abstract：:Using the technique of in vitro human-hamster fertilization, sperm of four men heterozygous for 4 reciprocal translocations--t(4;17),t(5;13),t(6;7), and t(9;18)--was studied. Frequencies of numerical abnormalities unrelated to the translocations range from 8.3% to 13.3%, and the incidence of imbalances ranges from 23....

journal_title：American journal of human genetics

authors： Pellestor F,Sèle B,Jalbert H,Jalbert P

更新日期：1989-04-01 00:00:00

abstract：:Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional a...

journal_title：American journal of human genetics

authors： Sanna-Cherchi S,Khan K,Westland R,Krithivasan P,Fievet L,Rasouly HM,Ionita-Laza I,Capone VP,Fasel DA,Kiryluk K,Kamalakaran S,Bodria M,Otto EA,Sampson MG,Gillies CE,Vega-Warner V,Vukojevic K,Pediaditakis I,Makar GS,M

更新日期：2017-11-02 00:00:00

abstract：:Supernumerary marker chromosomes (SMCs) of chromosome 15, designated "SMC(15)s," are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the characterization of 46 large SMC(15)s, using both fluorescence in situ hybridization and polymerase chain reaction analysis within and d...

journal_title：American journal of human genetics

authors： Roberts SE,Maggouta F,Thomas NS,Jacobs PA,Crolla JA

更新日期：2003-11-01 00:00:00

abstract：:Mutations in the progressive ankylosis gene (Ank/ANKH) cause surprisingly different skeletal phenotypes in mice and humans. In mice, recessive loss-of-function mutations cause arthritis, ectopic crystal formation, and joint fusion throughout the body. In humans, some dominant mutations cause chondrocalcinosis, an adul...

journal_title：American journal of human genetics

authors： Gurley KA,Reimer RJ,Kingsley DM

更新日期：2006-12-01 00:00:00

abstract：:The putative locus for hereditary mixed polyposis syndrome (HMPS) in a large family of Ashkenazi descent (SM96) was previously reported to map to chromosome sub-bands 6q16-q21. However, new clinical data, together with molecular data from additional family members, have shown 6q linkage to be incorrect. A high-density...

journal_title：American journal of human genetics

authors： Jaeger EE,Woodford-Richens KL,Lockett M,Rowan AJ,Sawyer EJ,Heinimann K,Rozen P,Murday VA,Whitelaw SC,Ginsberg A,Atkin WS,Lynch HT,Southey MC,Debinski H,Eng C,Bodmer WF,Talbot IC,Hodgson SV,Thomas HJ,Tomlinson IP

更新日期：2003-05-01 00:00:00

abstract：:At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activate cryptic splice-d...

journal_title：American journal of human genetics

authors： Verlaan DJ,Siegel AM,Rouleau GA

更新日期：2002-06-01 00:00:00

abstract：:An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the ef...

journal_title：American journal of human genetics

authors： Boerkoel CF,Exelbert R,Nicastri C,Nichols RC,Miller FW,Plotz PH,Raben N

更新日期：1995-04-01 00:00:00

abstract：:We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. The A140V mutation was found in all affected males and all carrier females i...

journal_title：American journal of human genetics

authors： Klauck SM,Lindsay S,Beyer KS,Splitt M,Burn J,Poustka A

更新日期：2002-04-01 00:00:00

abstract：:Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I structural subunits or assembly factors. Such genetic heterogeneity means that application of next-g...

journal_title：American journal of human genetics

authors： Alston CL,Heidler J,Dibley MG,Kremer LS,Taylor LS,Fratter C,French CE,Glasgow RIC,Feichtinger RG,Delon I,Pagnamenta AT,Dolling H,Lemonde H,Aiton N,Bjørnstad A,Henneke L,Gärtner J,Thiele H,Tauchmannova K,Quaghebeur G

更新日期：2018-10-04 00:00:00

abstract：:Uniparental disomy (UPD) refers to the presence of two copies of a chromosome from one parent and none from the other parent. In genetic studies of UPDs, many genetic markers are usually used to identify the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of recombinations. How...

journal_title：American journal of human genetics

authors： Zhao H,Li J,Robinson WP

更新日期：2000-10-01 00:00:00

abstract：:Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf...

journal_title：American journal of human genetics

authors： Rich SS,Weitkamp LR,Barbosa J

更新日期：1984-09-01 00:00:00

abstract：:Polymorphisms of the vitamin D receptor gene (VDR) have been shown to be associated with several complex diseases, including osteoporosis, but the mechanisms are unknown and study results have been inconsistent. We therefore determined sequence variation across the major relevant parts of VDR, including construction o...

journal_title：American journal of human genetics

authors： Fang Y,van Meurs JB,d'Alesio A,Jhamai M,Zhao H,Rivadeneira F,Hofman A,van Leeuwen JP,Jehan F,Pols HA,Uitterlinden AG

更新日期：2005-11-01 00:00:00

abstract：:The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, and affected heterozygotes are predisposed to bleeding episodes. The MHA gene has recently been localized, by means of linkage analysis...

journal_title：American journal of human genetics

authors： Martignetti JA,Heath KE,Harris J,Bizzaro N,Savoia A,Balduini CL,Desnick RJ

更新日期：2000-04-01 00:00:00

abstract：:Two of the three class I alcohol dehydrogenase (ADH) genes (ADH2 and ADH3) encode known functional variants that act on alcohol with different efficiencies. Variants at both these genes have been implicated in alcoholism in some populations because allele frequencies differ between alcoholics and controls. Specificall...

journal_title：American journal of human genetics

authors： Osier M,Pakstis AJ,Kidd JR,Lee JF,Yin SJ,Ko HC,Edenberg HJ,Lu RB,Kidd KK

更新日期：1999-04-01 00:00:00

abstract：:The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We use...

journal_title：American journal of human genetics

authors： Hartig MB,Iuso A,Haack T,Kmiec T,Jurkiewicz E,Heim K,Roeber S,Tarabin V,Dusi S,Krajewska-Walasek M,Jozwiak S,Hempel M,Winkelmann J,Elstner M,Oexle K,Klopstock T,Mueller-Felber W,Gasser T,Trenkwalder C,Tiranti V,Kr

更新日期：2011-10-07 00:00:00

abstract：:Previously, we demonstrated evidence of linkage to bipolar affective disorder (BP) in a single large, multigenerational family with a LOD score of 3.41 at the PFKL locus on chromosome 21q22.3. Additional families showed little support for linkage to PFKL under homogeneity or heterogeneity, in that study. We have expan...

journal_title：American journal of human genetics

authors： Aita VM,Liu J,Knowles JA,Terwilliger JD,Baltazar R,Grunn A,Loth JE,Kanyas K,Lerer B,Endicott J,Wang Z,Penchaszadeh G,Gilliam TC,Baron M

更新日期：1999-01-01 00:00:00

abstract：:Retinitis pigmentosa (RP) is a group of disorders characterized by progressive degeneration of the outer retina, resulting in night blindness, visual field loss, an abnormal electroretinogram, and characteristic retinal pigmentary changes. An important step in the understanding of RP has been the recognition that some...

journal_title：American journal of human genetics

authors： Sheffield VC,Fishman GA,Beck JS,Kimura AE,Stone EM

更新日期：1991-10-01 00:00:00

abstract：:The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation ...

journal_title：American journal of human genetics

authors： Kammerer CM,MacCluer JW,Bridges JM

更新日期：1984-01-01 00:00:00

abstract：:Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial in nature. Cutaneous findings are...

journal_title：American journal of human genetics

authors： Lee-Kirsch MA,Gong M,Schulz H,Rüschendorf F,Stein A,Pfeiffer C,Ballarini A,Gahr M,Hubner N,Linné M

更新日期：2006-10-01 00:00:00

abstract：:Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome 21 in Down syndrome have been shown to be isochromosomes. Aside from chromosome 21, very little is known about other acrocentric homologous rearrangements. In ...

journal_title：American journal of human genetics

authors： Shaffer LG,McCaskill C,Han JY,Choo KH,Cutillo DM,Donnenfeld AE,Weiss L,Van Dyke DL

更新日期：1994-11-01 00:00:00

abstract：:Beta-Glucosidase activity measured by synthetic substrate at pH 4.6 was low in the cultured amniotic cells from two pregnant women at risk for juvenile and adult type Gaucher disease. The diagnosis was confirmed by showing a low activity of beta-glucosidase in the skin fibroblasts with a synthetic substrate or in the ...

journal_title：American journal of human genetics

authors： Kitagawa T,Owada M,Sakiyama T,Aoki K,Kamoshita S,Amenomori Y,Kobayashi T

更新日期：1978-05-01 00:00:00

abstract：:Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a serious and potentially fatal inherited defect in the beta-oxidation of fatty acids. Approximately 80% of patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985). The remaining patients (except for a few cases worldwide) are c...

journal_title：American journal of human genetics

authors： Andresen BS,Bross P,Jensen TG,Winter V,Knudsen I,Kølvraa S,Jensen UB,Bolund L,Duran M,Kim JJ

更新日期：1993-09-01 00:00:00

abstract：:Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental an...

journal_title：American journal of human genetics

authors： Flex E,Niceta M,Cecchetti S,Thiffault I,Au MG,Capuano A,Piermarini E,Ivanova AA,Francis JW,Chillemi G,Chandramouli B,Carpentieri G,Haaxma CA,Ciolfi A,Pizzi S,Douglas GV,Levine K,Sferra A,Dentici ML,Pfundt RR,Le Pi

更新日期：2016-10-06 00:00:00

abstract：:The 7-year IQ scores (WISC) of 116 white and 143 black nonmalformed twins of known zygosity and placental type were ascertained from the NINCDS Collaborative Perinatal Project (NCPP). The type of chorion and zygosity had no significant effect on the mean IQ or among-pair variation. In white monozygotic twins, however,...

journal_title：American journal of human genetics

authors： Melnick M,Myrianthopoulos NC,Christian JC

更新日期：1978-07-01 00:00:00

abstract：:We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (A...

journal_title：American journal of human genetics

authors： Slavotinek A,Kaylor J,Pierce H,Cahr M,DeWard SJ,Schneidman-Duhovny D,Alsadah A,Salem F,Schmajuk G,Mehta L

更新日期：2015-01-08 00:00:00

abstract：:Fibroblasts from a man with a mild form of osteogenesis imperfecta (OI) and from his son with perinatal lethal OI (OI type II) produced normal and abnormal type I procollagen molecules. The abnormal molecules synthesized by both cell strains contained one or two pro alpha 1(I) chains in which the glycine at position 5...

journal_title：American journal of human genetics

authors： Wallis GA,Starman BJ,Zinn AB,Byers PH

更新日期：1990-06-01 00:00:00