A review of limb defects in a large fetus collection.

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：:We devised a rapid PCR-based method to screen for an A----G transition at nucleotide 8344 of the human mitochondrial tRNA(Lys) gene, which was recently reported, by Shoffner and co-workers, to be associated with myoclonus epilepsy and ragged-red fibers (MERRF), a maternally transmitted mitochondrial encephalomyopathy ...

journal_title：American journal of human genetics

authors： Zeviani M,Amati P,Bresolin N,Antozzi C,Piccolo G,Toscano A,DiDonato S

更新日期：1991-02-01 00:00:00

abstract：:gamma-Aminobutyric acid transaminase (GABAT, E.C.2.6.I.19) was phenotyped by starch-gel electrophoresis in post-mortem liver samples from 650 unrelated subjects of either sex, comprising 289 Chinese, 177 Indians, 140 Malays, and 44 from other racial groups from Southeast Asia. The estimated gene frequencies of GABAT1 ...

journal_title：American journal of human genetics

authors： Bhattacharyya SP,Saha N,Wee KP

更新日期：1985-03-01 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：:Recombination rates vary both across the genome and between different species, but little information is available about the temporal and physical scales over which such rates change. To shed light on these questions, we performed a high-resolution analysis of a genomic region within the beta-globin gene cluster that ...

journal_title：American journal of human genetics

authors： Wall JD,Frisse LA,Hudson RR,Di Rienzo A

更新日期：2003-12-01 00:00:00

abstract：:Cerebral cavernous malformations (CCM) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and focal neurological deficits due to cerebral hemorrhages. CCM loci have already been assigned to chromosomes 7q (CCM1), 7p...

journal_title：American journal of human genetics

authors： Denier C,Goutagny S,Labauge P,Krivosic V,Arnoult M,Cousin A,Benabid AL,Comoy J,Frerebeau P,Gilbert B,Houtteville JP,Jan M,Lapierre F,Loiseau H,Menei P,Mercier P,Moreau JJ,Nivelon-Chevallier A,Parker F,Redondo AM,S

更新日期：2004-02-01 00:00:00

abstract：:Congenital universal muscular hypoplasia has been confused with similar diseases in the past. Evidence presented in this paper distinguishes this disorder from other phenotypically similar ones and indicates that it is inherited as an autosomal recessive disorder. ...

journal_title：American journal of human genetics

authors： Pelias MZ,Thurmon TF

更新日期：1979-09-01 00:00:00

abstract：:Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This report represents a c...

journal_title：American journal of human genetics

authors： Richard I,Roudaut C,Saenz A,Pogue R,Grimbergen JE,Anderson LV,Beley C,Cobo AM,de Diego C,Eymard B,Gallano P,Ginjaar HB,Lasa A,Pollitt C,Topaloglu H,Urtizberea JA,de Visser M,van der Kooi A,Bushby K,Bakker E,Lopez

更新日期：1999-06-01 00:00:00

abstract：:To investigate the molecular basis for the distinct neuronopathic phenotypes of Gaucher disease, acid beta-glucosidases expressed from mutant DNAs in Gaucher disease type 2 (acute) and type 3 (subacute) patients were characterized in fibroblasts and with the baculovirus expression system in insect cells. Expression of...

journal_title：American journal of human genetics

authors： Grace ME,Berg A,He GS,Goldberg L,Horowitz M,Grabowski GA

更新日期：1991-09-01 00:00:00

abstract：:The PCR technique was used to analyze the DXYS17 locus in the pseudoautosomal region of the X and the Y chromosomes. Analysis on an automated DNA sequencer allowed for sensitive and highly accurate typing of 16 different alleles with a size between 480 and 1,100 bp. Two DXYS17 alleles migrated with the same size on ag...

journal_title：American journal of human genetics

authors： Decorte R,Wu R,Marynen P,Cassiman JJ

更新日期：1994-03-01 00:00:00

abstract：:The reported linkage between cutaneous melanoma and the dysplastic nevus syndrome (CM/DNS) to markers located on the distal portion of the short arm of chromosome 1 was examined in three Utah kindreds ascertained for multiple cases of melanoma. Family members in these kindreds were genotyped for the two markers report...

journal_title：American journal of human genetics

authors： Cannon-Albright LA,Goldgar DE,Wright EC,Turco A,Jost M,Meyer LJ,Piepkorn M,Zone JJ,Skolnick MH

更新日期：1990-05-01 00:00:00

abstract：:Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rh...

journal_title：American journal of human genetics

authors： Inglehearn CF,Bashir R,Lester DH,Jay M,Bird AC,Bhattacharya SS

更新日期：1991-01-01 00:00:00

abstract：:The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-l...

journal_title：American journal of human genetics

authors： Gedeon AK,Tiller GE,Le Merrer M,Heuertz S,Tranebjaerg L,Chitayat D,Robertson S,Glass IA,Savarirayan R,Cole WG,Rimoin DL,Kousseff BG,Ohashi H,Zabel B,Munnich A,Gecz J,Mulley JC

更新日期：2001-06-01 00:00:00

abstract：:Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A-FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of approximate...

journal_title：American journal of human genetics

authors： Savino M,Ianzano L,Strippoli P,Ramenghi U,Arslanian A,Bagnara GP,Joenje H,Zelante L,Savoia A

更新日期：1997-12-01 00:00:00

abstract：:Carotid intimal medial thickness (IMT) is a heritable quantitative measure of atherosclerosis. A genomewide linkage analysis was conducted to localize a quantitative-trait locus (QTL) influencing carotid IMT. Carotid IMT was measured in 596 men and 629 women from 311 extended families (1,242 sib pairs) in the Framingh...

journal_title：American journal of human genetics

authors： Fox CS,Cupples LA,Chazaro I,Polak JF,Wolf PA,D'Agostino RB,Ordovas JM,O'Donnell CJ

更新日期：2004-02-01 00:00:00

abstract：:The mean and standard deviation of the first arrival time for a single mutant to reach a certain frequency and the mean age of a mutant persisting in a population have been studied using diffusion methods. These quantities are shown to be highly dependent on both the heterozygous effect and the population size. For pa...

journal_title：American journal of human genetics

authors： Li WH

更新日期：1975-05-01 00:00:00

abstract：:The distal portion of the short arm of the human X chromosome (Xp) exhibits many unique and interesting features. Distal Xp contains the pseudoautosomal region, a number of disease loci, and several cell-surface markers. Several genes in this area have also been observed to escape X-chromosomal inactivation. The chara...

journal_title：American journal of human genetics

authors： Johnson CL,Charmley P,Yen PH,Shapiro LJ

更新日期：1991-08-01 00:00:00

abstract：:The chitinase 3-like 1 gene (CHI3L1) is abnormally expressed in the hippocampus of subjects with schizophrenia and may be involved in the cellular response to various environmental events that are reported to increase the risk of schizophrenia. Here, we provide evidence that the functional variants at the CHI3L1 locus...

journal_title：American journal of human genetics

authors： Zhao X,Tang R,Gao B,Shi Y,Zhou J,Guo S,Zhang J,Wang Y,Tang W,Meng J,Li S,Wang H,Ma G,Lin C,Xiao Y,Feng G,Lin Z,Zhu S,Xing Y,Sang H,St Clair D,He L

更新日期：2007-01-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...

journal_title：American journal of human genetics

authors： Hormozdiari F,Kang EY,Bilow M,Ben-David E,Vulpe C,McLachlan S,Lusis AJ,Han B,Eskin E

更新日期：2016-07-07 00:00:00

abstract：:We measured the proportion of mutant mtDNA (mutation load) in 82 primary oocytes from a woman who harbored the A3243G mtDNA mutation. The frequency distribution of mutation load indicates that random drift is the principal mechanism that determines the level of mutant mtDNA within individual oocytes. ...

journal_title：American journal of human genetics

authors： Brown DT,Samuels DC,Michael EM,Turnbull DM,Chinnery PF

更新日期：2001-02-01 00:00:00

abstract：:Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation (c.1102C>T [p.Arg368*]) in PRKAR1A has...

journal_title：American journal of human genetics

authors： Michot C,Le Goff C,Goldenberg A,Abhyankar A,Klein C,Kinning E,Guerrot AM,Flahaut P,Duncombe A,Baujat G,Lyonnet S,Thalassinos C,Nitschke P,Casanova JL,Le Merrer M,Munnich A,Cormier-Daire V

更新日期：2012-04-06 00:00:00

abstract：:Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset form of recessive ichthyosis in a larg...

journal_title：American journal of human genetics

authors： Israeli S,Khamaysi Z,Fuchs-Telem D,Nousbeck J,Bergman R,Sarig O,Sprecher E

更新日期：2011-04-08 00:00:00

abstract：:Samples of venous blood from 239 male and 476 female adults including 41 pairs of parents and 123 of their children belonging to a Surinam population called the Djuka or Bush Negroes of West African origin were screened for electrophoretic variants of red cell glutathione peroxidase (GPX1) in Cellogel. The results con...

journal_title：American journal of human genetics

authors： Meera Khan P,Verma C,Wijnen LM,Wijnen JT,Prins HK,Nijenhuis LE

更新日期：1986-05-01 00:00:00

abstract：:Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the lysosomal glycosidase alpha-L-iduronidase. Hurler (severe), Scheie (mild), and Hurler/Scheie (intermediate) syndromes are clinical subtypes of MPS-I, but it is difficult to distinguish between these subtypes by...

journal_title：American journal of human genetics

authors： Scott HS,Litjens T,Nelson PV,Thompson PR,Brooks DA,Hopwood JJ,Morris CP

更新日期：1993-11-01 00:00:00

abstract：:A survey of Wilson disease in Iceland has revealed two large kindreds with affected individuals. We have carried out studies of haplotypes of dinucleotide repeat polymorphisms (CA repeats) flanking the Wilson disease gene. The same mutation, a 7-bp deletion, is present in both families, and the clinical features are s...

journal_title：American journal of human genetics

authors： Thomas GR,Jensson O,Gudmundsson G,Thorsteinsson L,Cox DW

更新日期：1995-05-01 00:00:00

abstract：:X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid sulfatase (STS) deficiency. In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. However, some patients with the classical XLI phenotype and complete STS defici...

journal_title：American journal of human genetics

authors： Basler E,Grompe M,Parenti G,Yates J,Ballabio A

更新日期：1992-03-01 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：:Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma has been described in a single af...

journal_title：American journal of human genetics

authors： Twigg SRF,Hufnagel RB,Miller KA,Zhou Y,McGowan SJ,Taylor J,Craft J,Taylor JC,Santoro SL,Huang T,Hopkin RJ,Brady AF,Clayton-Smith J,Clericuzio CL,Grange DK,Groesser L,Hafner C,Horn D,Temple IK,Dobyns WB,Curry CJ,

更新日期：2016-06-02 00:00:00

abstract：:Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an independent clone, we hav...

journal_title：American journal of human genetics

authors： Ptacek LJ,Tyler F,Trimmer JS,Agnew WS,Leppert M

更新日期：1991-08-01 00:00:00

abstract：:Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, t...

journal_title：American journal of human genetics

authors： Lim JS,Gopalappa R,Kim SH,Ramakrishna S,Lee M,Kim WI,Kim J,Park SM,Lee J,Oh JH,Kim HD,Park CH,Lee JS,Kim S,Kim DS,Han JM,Kang HC,Kim HH,Lee JH

更新日期：2017-03-02 00:00:00