Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.

abstract：:A stepwise logistic-regression procedure is proposed for evaluation of the relative importance of variants at different sites within a small genetic region. By fitting statistical models with main effects, rather than modeling the full haplotype effects, we generate tests, with few degrees of freedom, that are likely ...

journal_title：American journal of human genetics

authors： Cordell HJ,Clayton DG

更新日期：2002-01-01 00:00:00

abstract：:We conducted a genomewide linkage screen of a simple heavy-smoking quantitative trait, the maximum number of cigarettes smoked in a 24-h period, using two independent samples: 289 Australian and 155 Finnish nuclear multiplex families, all of which were of European ancestry and were targeted for DNA analysis by use of ...

journal_title：American journal of human genetics

authors： Saccone SF,Pergadia ML,Loukola A,Broms U,Montgomery GW,Wang JC,Agrawal A,Dick DM,Heath AC,Todorov AA,Maunu H,Heikkila K,Morley KI,Rice JP,Todd RD,Kaprio J,Peltonen L,Martin NG,Goate AM,Madden PA

更新日期：2007-05-01 00:00:00

abstract：:Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, mutation screening in t...

journal_title：American journal of human genetics

authors： Boye E,Mollet G,Forestier L,Cohen-Solal L,Heidet L,Cochat P,Grünfeld JP,Palcoux JB,Gubler MC,Antignac C

更新日期：1998-11-01 00:00:00

abstract：:Suppose that many polymorphic sites have been identified and genotyped in a region showing strong linkage with a trait. A key question of interest is which site (or combination of sites) in the region influences susceptibility to the trait. We have developed a novel statistical approach to this problem, in the context...

journal_title：American journal of human genetics

authors： Sun L,Cox NJ,McPeek MS

更新日期：2002-02-01 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：:Cloned genomic DNA sequences corresponding to various regions of the human type II procollagen gene were used to analyze the DNA from 78 normal volunteers. Southern hybridization experiments detected polymorphic HindIII, BamHI, and EcoRI sites. The presence of the polymorphic HindIII site results in a 7.0-kilobase (kb...

journal_title：American journal of human genetics

authors： Eng CE,Strom CM

更新日期：1985-07-01 00:00:00

abstract：:Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene ...

journal_title：American journal of human genetics

authors： Abalkhail H,Mitchell J,Habgood J,Orrell R,de Belleroche J

更新日期：2003-08-01 00:00:00

abstract：:Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3. In the first, with ka...

journal_title：American journal of human genetics

authors： Kim HG,Kishikawa S,Higgins AW,Seong IS,Donovan DJ,Shen Y,Lally E,Weiss LA,Najm J,Kutsche K,Descartes M,Holt L,Braddock S,Troxell R,Kaplan L,Volkmar F,Klin A,Tsatsanis K,Harris DJ,Noens I,Pauls DL,Daly MJ,MacDo

更新日期：2008-01-01 00:00:00

abstract：:Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal portion of the internal carotid artery. Moyamoya disease is prevalent among patients <10 years of age. Although most cases appear to be sporadic, approximately 10% occur as familial cases. The incidence of familial cases has been ...

journal_title：American journal of human genetics

authors： Ikeda H,Sasaki T,Yoshimoto T,Fukui M,Arinami T

更新日期：1999-02-01 00:00:00

abstract：:The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial in...

journal_title：American journal of human genetics

authors： McMahon FJ,Stine OC,Meyers DA,Simpson SG,DePaulo JR

更新日期：1995-06-01 00:00:00

abstract：:Shovel shape of upper incisors is a common characteristic in Asian and Native American populations but is rare or absent in African and European populations. Like other common dental traits, genetic polymorphisms involved in the tooth shoveling have not yet been clarified. In ectodysplasin A receptor (EDAR), where dys...

journal_title：American journal of human genetics

authors： Kimura R,Yamaguchi T,Takeda M,Kondo O,Toma T,Haneji K,Hanihara T,Matsukusa H,Kawamura S,Maki K,Osawa M,Ishida H,Oota H

更新日期：2009-10-01 00:00:00

abstract：:Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHM...

journal_title：American journal of human genetics

authors： McEntagart M,Norton N,Williams H,Teare MD,Dunstan M,Baker P,Houlden H,Reilly M,Wood N,Harper PS,Futreal PA,Williams N,Rahman N

更新日期：2001-05-01 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：:More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown...

journal_title：American journal of human genetics

authors： Sirmaci A,Erbek S,Price J,Huang M,Duman D,Cengiz FB,Bademci G,Tokgöz-Yilmaz S,Hişmi B,Ozdağ H,Oztürk B,Kulaksizoğlu S,Yildirim E,Kokotas H,Grigoriadou M,Petersen MB,Shahin H,Kanaan M,King MC,Chen ZY,Blanton SH,L

更新日期：2010-05-14 00:00:00

abstract：:Assignment of alleles to haplotypes for nearly all the variants on all chromosomes can be performed by genetic analysis of a nuclear family with three or more children. Whole-genome sequence data enable deterministic phasing of nearly all sequenced alleles by permitting assignment of recombinations to precise chromoso...

journal_title：American journal of human genetics

authors： Roach JC,Glusman G,Hubley R,Montsaroff SZ,Holloway AK,Mauldin DE,Srivastava D,Garg V,Pollard KS,Galas DJ,Hood L,Smit AF

更新日期：2011-09-09 00:00:00

abstract：:Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results o...

journal_title：American journal of human genetics

authors： Leal A,Morera B,Del Valle G,Heuss D,Kayser C,Berghoff M,Villegas R,Hernández E,Méndez M,Hennies HC,Neundörfer B,Barrantes R,Reis A,Rautenstrauss B

更新日期：2001-01-01 00:00:00

abstract：:Beckwith-Wiedeman syndrome (BWS) and Klippel-Trenaunay-Weber syndrome (KTWS) are different human disorders characterized, among other features, by tissue overgrowth. Deregulation of one or more imprinted genes located at chromosome 11p15.5, of which insulin-like growth factor 2 (IGF2) is the most likely candidate, is ...

journal_title：American journal of human genetics

authors： Sperandeo MP,Ungaro P,Vernucci M,Pedone PV,Cerrato F,Perone L,Casola S,Cubellis MV,Bruni CB,Andria G,Sebastio G,Riccio A

更新日期：2000-03-01 00:00:00

abstract：:The Hartnup mutation affects an amino acid transport system of intestine and kidney used by a large group of neutral charge alpha-amino acids (six essential and several nonessential). We compared developmental outcomes and medical histories of 21 Hartnup subjects, identified through newborn screening, with those of 19...

journal_title：American journal of human genetics

authors： Scriver CR,Mahon B,Levy HL,Clow CL,Reade TM,Kronick J,Lemieux B,Laberge C

更新日期：1987-05-01 00:00:00

abstract：:Génin and Clerget-Darpoux recently discussed the derivation of the probabilities of identity states for populations in which there was some degree of kinship, primarily to allow the extension of the classical affected-sib-pair method to such populations. It is argued here that their derivation makes certain assumption...

journal_title：American journal of human genetics

authors： Cannings C

更新日期：1998-03-01 00:00:00

abstract：:The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large effect. Intracranial aneurysm is a common neurological problem; the rupture of these aneurysms constitutes a frequently catastrophic neurologic event. The pathogene...

journal_title：American journal of human genetics

authors： Nahed BV,Seker A,Guclu B,Ozturk AK,Finberg K,Hawkins AA,DiLuna ML,State M,Lifton RP,Gunel M

更新日期：2005-01-01 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：:Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is a common, highly heritable neurobehavioral disorder of childhood onset, characterized by hyperactivity, impulsivity, and/or inattention. As part of an ongoing study of the genetic etiology of ADHD, we have performed a genomewide linkage scan in 204 nuclea...

journal_title：American journal of human genetics

authors： Ogdie MN,Macphie IL,Minassian SL,Yang M,Fisher SE,Francks C,Cantor RM,McCracken JT,McGough JJ,Nelson SF,Monaco AP,Smalley SL

更新日期：2003-05-01 00:00:00

abstract：:Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mtDNA on Southern blots or in PCR analysis of muscle DNA and a mild deficiency of one or more res...

journal_title：American journal of human genetics

authors： Kaukonen JA,Amati P,Suomalainen A,Rötig A,Piscaglia MG,Salvi F,Weissenbach J,Fratta G,Comi G,Peltonen L,Zeviani M

更新日期：1996-04-01 00:00:00

abstract：:The heterogeneous nuclear ribonucleoprotein (HNRNP) genes code for a set of RNA-binding proteins that function primarily in the spliceosome C complex. Pathogenic variants in these genes can drive neurodegeneration, through a mechanism involving excessive stress-granule formation, or developmental defects, through mech...

journal_title：American journal of human genetics

authors： Duijkers FA,McDonald A,Janssens GE,Lezzerini M,Jongejan A,van Koningsbruggen S,Leeuwenburgh-Pronk WG,Wlodarski MW,Moutton S,Tran-Mau-Them F,Thauvin-Robinet C,Faivre L,Monaghan KG,Smol T,Boute-Benejean O,Ladda RL,Sell SL,

更新日期：2019-06-06 00:00:00

abstract：:Genetic association studies of common disease often rely on linkage disequilibrium (LD) along the human genome and in the population under study. Although understanding the characteristics of this correlation has been the focus of many large-scale surveys (culminating in genomewide haplotype maps), the results of diff...

journal_title：American journal of human genetics

authors： Pe'er I,Chretien YR,de Bakker PI,Barrett JC,Daly MJ,Altshuler DM

更新日期：2006-04-01 00:00:00

abstract：:A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), pre...

journal_title：American journal of human genetics

authors： Schwartz S,Cohen MM,Panny SR,Beisel JH,Vora S

更新日期：1984-07-01 00:00:00

abstract：:Genetic-dissection studies carried out with Down syndrome (DS) murine models point to the critical contribution of Dyrk1A overexpression to the motor abnormalities and cognitive deficits displayed in DS individuals. In the present study we have used a murine model overexpressing Dyrk1A (TgDyrk1A mice) to evaluate whet...

journal_title：American journal of human genetics

authors： Ortiz-Abalia J,Sahún I,Altafaj X,Andreu N,Estivill X,Dierssen M,Fillat C

更新日期：2008-10-01 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：:Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. On the basis of a linkage analysis o...

journal_title：American journal of human genetics

authors： Neufeld EJ,Mandel H,Raz T,Szargel R,Yandava CN,Stagg A,Fauré S,Barrett T,Buist N,Cohen N

更新日期：1997-12-01 00:00:00

abstract：:The alkaline phosphatases comprise a multigene enzyme family that hydolyze phosphate esters and are widely distributed in nature. Three main classes have been isolated from humans, the placental, intestinal, and liver/bone/kidney forms. We have mapped the placental and intestinal alkaline phosphatase genes to 2q34-q37...

journal_title：American journal of human genetics

authors： Griffin CA,Smith M,Henthorn PS,Harris H,Weiss MJ,Raducha M,Emanuel BS

更新日期：1987-12-01 00:00:00