Human placental and intestinal alkaline phosphatase genes map to 2q34-q37.

abstract：:We have isolated 68 new RFLP markers on human chromosome 6. Of these, 64 were localized on chromosomal bands by the fluorescent in-situ hybridization (FISH) method, 25 on the short arm and 39 on the long arm. Their distribution was uneven; the markers were localized predominantly in regions of R-positive banding. Elev...

journal_title：American journal of human genetics

authors： Saito S,Okui K,Tokino T,Oshimura M,Nakamura Y

更新日期：1992-01-01 00:00:00

abstract：:Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodact...

journal_title：American journal of human genetics

authors： Goodman FR,Majewski F,Collins AL,Scambler PJ

更新日期：2002-02-01 00:00:00

abstract：:Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations...

journal_title：American journal of human genetics

authors： Aksentijevich I,Torosyan Y,Samuels J,Centola M,Pras E,Chae JJ,Oddoux C,Wood G,Azzaro MP,Palumbo G,Giustolisi R,Pras M,Ostrer H,Kastner DL

更新日期：1999-04-01 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：:Helicobacter pylori is considered the most prevalent infectious agent among humans, and it causes gastric inflammation, gastroduodenal ulcers, and a risk of gastric cancer. We performed a genomewide linkage analysis among Senegalese siblings phenotyped for H. pylori-reactive serum immunoglobulin G. A multipoint LOD sc...

journal_title：American journal of human genetics

authors： Thye T,Burchard GD,Nilius M,Müller-Myhsok B,Horstmann RD

更新日期：2003-02-01 00:00:00

abstract：:Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic NSID cases. In order to investigate this possibility, we sequenced 197 genes encoding glutamate receptors and a large subset of th...

journal_title：American journal of human genetics

authors： Hamdan FF,Gauthier J,Araki Y,Lin DT,Yoshizawa Y,Higashi K,Park AR,Spiegelman D,Dobrzeniecka S,Piton A,Tomitori H,Daoud H,Massicotte C,Henrion E,Diallo O,S2D Group.,Shekarabi M,Marineau C,Shevell M,Maranda B,Mitche

更新日期：2011-03-11 00:00:00

abstract：:Adolescent idiopathic scoliosis (AIS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was...

journal_title：American journal of human genetics

authors： Chan V,Fong GC,Luk KD,Yip B,Lee MK,Wong MS,Lu DD,Chan TK

更新日期：2002-08-01 00:00:00

abstract：:A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and n...

journal_title：American journal of human genetics

authors： Witkop CJ Jr,White JG,King RA,Dahl MV,Young WG,Sauk JJ Jr

更新日期：1979-07-01 00:00:00

abstract：:The long-QT syndrome (LQT; Ward-Romano syndrome) is a cardiac disorder that is inherited as an autosomal dominant trait. Affected family members suffer from recurrent syncope and sudden death due to ventricular arrhythmias. Recently, we identified a DNA marker on the short arm of chromosome 11 (the Harvey ras-1 locus ...

journal_title：American journal of human genetics

authors： Keating M,Dunn C,Atkinson D,Timothy K,Vincent GM,Leppert M

更新日期：1991-12-01 00:00:00

abstract：:Some genes that affect development and behavior in mammals are known to be imprinted; and > or = 1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recent...

journal_title：American journal of human genetics

authors： Shete S,Amos CI

更新日期：2002-03-01 00:00:00

abstract：:Genome-wide association studies (GWASs) have identified many genetic variants underlying complex traits. Many detected genetic loci harbor variants that associate with multiple-even distinct-traits. Most current analysis approaches focus on single traits, even though the final results from multiple traits are evaluate...

journal_title：American journal of human genetics

authors： Zhu X,Feng T,Tayo BO,Liang J,Young JH,Franceschini N,Smith JA,Yanek LR,Sun YV,Edwards TL,Chen W,Nalls M,Fox E,Sale M,Bottinger E,Rotimi C,COGENT BP Consortium.,Liu Y,McKnight B,Liu K,Arnett DK,Chakravati A,Coo

更新日期：2015-01-08 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：:Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has been demonstrated between the increase in the repeat number of this sequence and the severity of the disease. However, the...

journal_title：American journal of human genetics

authors： Lavedan C,Hofmann-Radvanyi H,Shelbourne P,Rabes JP,Duros C,Savoy D,Dehaupas I,Luce S,Johnson K,Junien C

更新日期：1993-05-01 00:00:00

abstract：:Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament. Recently, we ident...

journal_title：American journal of human genetics

authors： Ilkovski B,Cooper ST,Nowak K,Ryan MM,Yang N,Schnell C,Durling HJ,Roddick LG,Wilkinson I,Kornberg AJ,Collins KJ,Wallace G,Gunning P,Hardeman EC,Laing NG,North KN

更新日期：2001-06-01 00:00:00

abstract：:Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large c...

journal_title：American journal of human genetics

authors： Zarouchlioti C,Sanchez-Pintado B,Hafford Tear NJ,Klein P,Liskova P,Dulla K,Semo M,Vugler AA,Muthusamy K,Dudakova L,Levis HJ,Skalicka P,Hysi P,Cheetham ME,Tuft SJ,Adamson P,Hardcastle AJ,Davidson AE

更新日期：2018-04-05 00:00:00

abstract：:Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Nav) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we describe two sibling pairs and three unrelated males who presented in i...

journal_title：American journal of human genetics

authors： Fry AE,Marra C,Derrick AV,Pickrell WO,Higgins AT,Te Water Naude J,McClatchey MA,Davies SJ,Metcalfe KA,Tan HJ,Mohanraj R,Avula S,Williams D,Brady LI,Mesterman R,Tarnopolsky MA,Zhang Y,Yang Y,Wang X,Genomics England R

更新日期：2021-01-07 00:00:00

abstract：:Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctiv...

journal_title：American journal of human genetics

authors： Haack TB,Hogarth P,Kruer MC,Gregory A,Wieland T,Schwarzmayr T,Graf E,Sanford L,Meyer E,Kara E,Cuno SM,Harik SI,Dandu VH,Nardocci N,Zorzi G,Dunaway T,Tarnopolsky M,Skinner S,Frucht S,Hanspal E,Schrander-Stumpel C,

更新日期：2012-12-07 00:00:00

abstract：:Studies have demonstrated that natural variation in the expression level of genes at baseline is extensive, and the determinants of this variation can be mapped by a genetic-linkage approach. In this study, we used lymphoblastoid cells to explore the variation in radiation-induced transcriptional changes. We found tha...

journal_title：American journal of human genetics

authors： Correa CR,Cheung VG

更新日期：2004-11-01 00:00:00

abstract：:Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families with Escobar syndro...

journal_title：American journal of human genetics

authors： Hoffmann K,Muller JS,Stricker S,Megarbane A,Rajab A,Lindner TH,Cohen M,Chouery E,Adaimy L,Ghanem I,Delague V,Boltshauser E,Talim B,Horvath R,Robinson PN,Lochmüller H,Hübner C,Mundlos S

更新日期：2006-08-01 00:00:00

abstract：:The first 14 exons of the APC gene have been screened by the denaturation gradient gel electrophoresis method in 160 unrelated patients with familial adenomatous polyposis coli (APC) syndrome. Four polymorphic variants corresponding to silent mutations not associated with the disease phenotype were observed. Mutations...

journal_title：American journal of human genetics

authors： Olschwang S,Laurent-Puig P,Groden J,White R,Thomas G

更新日期：1993-02-01 00:00:00

abstract：:The original family with the Allan-Herndon type of X-linked mental retardation has been investigated for linkage by using DNA probes spanning the length of the X chromosome. Available for study, over 3 generations, were 13 affected males, three obligate carriers, and three normal sons of the obligate carriers. Initial...

journal_title：American journal of human genetics

authors： Schwartz CE,Ulmer J,Brown A,Pancoast I,Goodman HO,Stevenson RE

更新日期：1990-09-01 00:00:00

abstract：:The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 1...

journal_title：American journal of human genetics

authors： Bodurtha J,Spence JE,Stevens CA

更新日期：1991-08-01 00:00:00

abstract：:Otitis media (OM) is the most common childhood disease. Almost all children experience at least one episode, but morbidity is greatest in children who experience chronic/recurrent OM (COME/ROM). There is mounting evidence that COME/ROM clusters in families and exhibits substantial heritability. Subjects who had tympan...

journal_title：American journal of human genetics

authors： Daly KA,Brown WM,Segade F,Bowden DW,Keats BJ,Lindgren BR,Levine SC,Rich SS

更新日期：2004-12-01 00:00:00

abstract：:The dominant cerebellar ataxias (ADCAs) represent a clinically and genetically heterogeneous group of disorders linked by progressive deterioration in balance and coordination. The utility of genetic classification of the ADCAs has been highlighted by the striking variability in clinical phenotype observed within fami...

journal_title：American journal of human genetics

authors： Geschwind DH,Perlman S,Figueroa CP,Treiman LJ,Pulst SM

更新日期：1997-04-01 00:00:00

abstract：:We have investigated the molecular basis for HbH disease in 16 patients from Sardinia, and central and southern Italy. We have shown that HbH disease is produced by the interaction of at least 10 different deletional or nondeletional alpha-thalassemia haplotypes, some of which have been already described in the Medite...

journal_title：American journal of human genetics

authors： Di Rienzo A,Novelletto A,Aliquò MC,Bianco I,Tagarelli A,Brancati C,Colombo B,Felicetti L

更新日期：1986-11-01 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：:Ca2+ signaling is vital for various cellular processes including synaptic vesicle exocytosis, muscle contraction, regulation of secretion, gene transcription, and cellular proliferation. The endoplasmic reticulum (ER) is the largest intracellular Ca2+ store, and dysregulation of ER Ca2+ signaling and homeostasis contr...

journal_title：American journal of human genetics

authors： Morimoto M,Waller-Evans H,Ammous Z,Song X,Strauss KA,Pehlivan D,Gonzaga-Jauregui C,Puffenberger EG,Holst CR,Karaca E,Brigatti KW,Maguire E,Coban-Akdemir ZH,Amagata A,Lau CC,Chepa-Lotrea X,Macnamara E,Tos T,Isikay S,

更新日期：2018-11-01 00:00:00

abstract：:Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through transethnic meta-an...

journal_title：American journal of human genetics

authors： Franceschini N,van Rooij FJ,Prins BP,Feitosa MF,Karakas M,Eckfeldt JH,Folsom AR,Kopp J,Vaez A,Andrews JS,Baumert J,Boraska V,Broer L,Hayward C,Ngwa JS,Okada Y,Polasek O,Westra HJ,Wang YA,Del Greco M F,Glazer NL,

更新日期：2012-10-05 00:00:00

abstract：:The gene responsible for Krabbe disease, an autosomal recessive disorder caused by deficiency of galactocerebrosidase (GALC), was localized by multipoint linkage analysis on chromosome 14. Eight mapped dinucleotide repeat polymorphisms were tested for linkage to GALC. Two-point linkage analysis demonstrated close link...

journal_title：American journal of human genetics

authors： Oehlmann R,Zlotogora J,Wenger DA,Knowlton RG

更新日期：1993-12-01 00:00:00

abstract：:Prenatal hemoglobinopathy screening was chosen as a model system for the study of patient receptivity to unsolicited genetic information. Providers of prenatal care in Rochester, NY, were offered free testing of all their prenatal patients and genetic counseling of women found positive. The 18,907 prenatal samples tes...

journal_title：American journal of human genetics

authors： Rowley PT,Loader S,Sutera CJ,Walden M,Kozyra A

更新日期：1991-03-01 00:00:00