Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26.

abstract：:Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism. Heterozygosity for functional null mutations in the NOGGIN gene has been shown to be responsible for the disorder. However, in a cohort of six proband...

journal_title：American journal of human genetics

authors： Dawson K,Seeman P,Sebald E,King L,Edwards M,Williams J 3rd,Mundlos S,Krakow D

更新日期：2006-04-01 00:00:00

abstract：:Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and shows considerable heterogeneity. Loss...

journal_title：American journal of human genetics

authors： Li M,Cheng R,Liang J,Yan H,Zhang H,Yang L,Li C,Jiao Q,Lu Z,He J,Ji J,Shen Z,Li C,Hao F,Yu H,Yao Z

更新日期：2013-06-06 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：:Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. With the very short telomer...

journal_title：American journal of human genetics

authors： Savage SA,Giri N,Baerlocher GM,Orr N,Lansdorp PM,Alter BP

更新日期：2008-02-01 00:00:00

abstract：:A current approach to mapping complex-disease-susceptibility loci in genome-wide association (GWA) studies involves leveraging the information in a reference database of dense genotype data. By modeling the patterns of linkage disequilibrium in a reference panel, genotypes not directly measured in the study samples ca...

journal_title：American journal of human genetics

authors： Huang L,Li Y,Singleton AB,Hardy JA,Abecasis G,Rosenberg NA,Scheet P

更新日期：2009-02-01 00:00:00

abstract：:Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that is characterized, in male patients, by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological hand aspects exhibited by patients are essential clues for the diag...

journal_title：American journal of human genetics

authors： Zeniou M,Pannetier S,Fryns JP,Hanauer A

更新日期：2002-06-01 00:00:00

abstract：:Approximately 5% of patients with neurofibromatosis type 1 (NF1) exhibit gross deletions that encompass the NF1 gene and its flanking regions. The breakpoints of the common 1.4-Mb (type 1) deletions are located within low-copy repeats (NF1-REPs) and cluster within a 3.4-kb hotspot of nonallelic homologous recombinatio...

journal_title：American journal of human genetics

authors： Steinmann K,Cooper DN,Kluwe L,Chuzhanova NA,Senger C,Serra E,Lazaro C,Gilaberte M,Wimmer K,Mautner VF,Kehrer-Sawatzki H

更新日期：2007-12-01 00:00:00

abstract：:Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies of alanine-glyoxylate aminotransferase (AGT) or glyoxylate reductase (GRHPR) are the two known causes of the disease (PH I and II, respect...

journal_title：American journal of human genetics

authors： Belostotsky R,Seboun E,Idelson GH,Milliner DS,Becker-Cohen R,Rinat C,Monico CG,Feinstein S,Ben-Shalom E,Magen D,Weissman I,Charon C,Frishberg Y

更新日期：2010-09-10 00:00:00

abstract：:Fragile X premutations are considered to be a risk factor for premature ovarian failure (POF), which is usually defined as menopause at age <40 years. Since premutations may be inherited from either the mother or the father, we evaluated the influence of the inheritance pattern on the duration of reproductive life in ...

journal_title：American journal of human genetics

authors： Hundscheid RD,Sistermans EA,Thomas CM,Braat DD,Straatman H,Kiemeney LA,Oostra BA,Smits AP

更新日期：2000-02-01 00:00:00

abstract：:Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic paraplegia (HSP), a lower-limb-predominant disorder of corticospinal motor neurons. We have identified four mutations in bicaudal D homolog ...

journal_title：American journal of human genetics

authors： Oates EC,Rossor AM,Hafezparast M,Gonzalez M,Speziani F,MacArthur DG,Lek M,Cottenie E,Scoto M,Foley AR,Hurles M,Houlden H,Greensmith L,Auer-Grumbach M,Pieber TR,Strom TM,Schule R,Herrmann DN,Sowden JE,Acsadi G,Mene

更新日期：2013-06-06 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：: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：: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：:The Ta (transcribed, subset a) subfamily of L1 LINEs (long interspersed elements) is characterized by a 3-bp ACA sequence in the 3' untranslated region and contains approximately 520 members in the human genome. Here, we have extracted 468 Ta L1Hs (L1 human specific) elements from the draft human genomic sequence and ...

journal_title：American journal of human genetics

authors： Myers JS,Vincent BJ,Udall H,Watkins WS,Morrish TA,Kilroy GE,Swergold GD,Henke J,Henke L,Moran JV,Jorde LB,Batzer MA

更新日期：2002-08-01 00:00:00

abstract：:Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported...

journal_title：American journal of human genetics

authors： Klein C,Schilling K,Saunders-Pullman RJ,Garrels J,Breakefield XO,Brin MF,deLeon D,Doheny D,Fahn S,Fink JS,Forsgren L,Friedman J,Frucht S,Harris J,Holmgren G,Kis B,Kurlan R,Kyllerman M,Lang AE,Leung J,Raymond D,R

更新日期：2000-11-01 00:00:00

abstract：:We explored the biochemical basis for the disorder pseudohypophosphatasia (PsHYPT) in one patient by examining the substrate specificity and localization of alkaline phosphatase (ALP) in cultured dermal fibroblasts. Despite substantial ALP activity, in cell homogenates, toward the artificial substrate 4-methyl-umbelli...

journal_title：American journal of human genetics

authors： Fedde KN,Cole DE,Whyte MP

更新日期：1990-11-01 00:00:00

abstract：:Risk prediction based on genomic profiles has raised a lot of attention recently. However, family history is usually ignored in genetic risk prediction. In this study we proposed a statistical framework for risk prediction given an individual's genotype profile and family history. Genotype information about the relati...

journal_title：American journal of human genetics

authors： So HC,Kwan JS,Cherny SS,Sham PC

更新日期：2011-05-13 00:00:00

abstract：:A family with three children with trisomy 21 in which the mother is a phenotypically normal, trisomy 21/normal mosaic was studied. Chromosome 21 fluorescent heteromorphisms were used to document that two of the three number 21's in two of the Down syndrome offspring were of maternal origin. Five cytogenetic surveys in...

journal_title：American journal of human genetics

authors： Harris DJ,Begleiter ML,Chamberlin J,Hankins L,Magenis RE

更新日期：1982-01-01 00:00:00

abstract：:Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkenazi FH families in I...

journal_title：American journal of human genetics

authors： Meiner V,Landsberger D,Berkman N,Reshef A,Segal P,Seftel HC,van der Westhuyzen DR,Jeenah MS,Coetzee GA,Leitersdorf E

更新日期：1991-08-01 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：: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：:Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant...

journal_title：American journal of human genetics

authors： Divisato G,Formicola D,Esposito T,Merlotti D,Pazzaglia L,Del Fattore A,Siris E,Orcel P,Brown JP,Nuti R,Strazzullo P,Benassi MS,Cancela ML,Michou L,Rendina D,Gennari L,Gianfrancesco F

更新日期：2016-02-04 00:00:00

abstract：:To assess the association between recombination and nondisjunction of chromosome 21, we analyzed cytogenetic and DNA markers in 104 trisomy 21 individuals and their parents. Our DNA marker studies of parental origin were informative in 100 cases, with the overwhelming majority (94) being maternal in origin. This value...

journal_title：American journal of human genetics

authors： Sherman SL,Takaesu N,Freeman SB,Grantham M,Phillips C,Blackston RD,Jacobs PA,Cockwell AE,Freeman V,Uchida I

更新日期：1991-09-01 00:00:00

abstract：:Triplets of the form of purine, purine, pyrimidine (RRY(i)) are enhanced in frequency in the genomes of primates, rodents, and bacteria. Some RRY(i) are "cryptic" repeats (cRRY(i)) in which no one tandem run of a trinucleotide predominates. A search of human GenBank sequence revealed that the sequences of cRRY(i) are ...

journal_title：American journal of human genetics

authors： Gostout B,Liu Q,Sommer SS

更新日期：1993-06-01 00:00:00

abstract：:Recent studies suggest that hereditary prostate cancer is a complex disease involving multiple susceptibility genes and variable phenotypic expression. While conducting a genomewide search on 162 North American families with > or =3 members affected with prostate cancer (PRCA), we found evidence for linkage to chromos...

journal_title：American journal of human genetics

authors： Berry R,Schroeder JJ,French AJ,McDonnell SK,Peterson BJ,Cunningham JM,Thibodeau SN,Schaid DJ

更新日期：2000-07-01 00:00:00

abstract：:We extend the methodology for family-based tests of association and linkage to allow for both variation in the phenotypes of subjects and incorporation of covariates into general-score tests of association. We use standard association models for a phenotype and any number of predictors. We then construct a score stati...

journal_title：American journal of human genetics

authors： Lunetta KL,Faraone SV,Biederman J,Laird NM

更新日期：2000-02-01 00:00:00

abstract：:To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...

journal_title：American journal of human genetics

authors： Loader S,Caldwell P,Kozyra A,Levenkron JC,Boehm CD,Kazazian HH Jr,Rowley PT

更新日期：1996-07-01 00:00:00

abstract：:Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features. Here, we descr...

journal_title：American journal of human genetics

authors： Howard MF,Murakami Y,Pagnamenta AT,Daumer-Haas C,Fischer B,Hecht J,Keays DA,Knight SJ,Kölsch U,Krüger U,Leiz S,Maeda Y,Mitchell D,Mundlos S,Phillips JA 3rd,Robinson PN,Kini U,Taylor JC,Horn D,Kinoshita T,Krawitz P

更新日期：2014-02-06 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：:In a large public urban hospital obstetrics service with > 123,000 deliveries in a 10-year period (1980-89), the frequencies (0.12%) of any type of chromosomal abnormality and of trisomy syndromes were analyzed for maternal age-related risk, by logistic regression. Focusing on very young gravidas, we found that in the...

journal_title：American journal of human genetics

authors： Little BB,Ramin SM,Cambridge BS,Schneider NR,Cohen DS,Snell LM,Harrod MJ,Johnston WL

更新日期：1995-11-01 00:00:00