Innovations in human genetics education. Medical student elective in clinical genetics.

abstract：:Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with ...

journal_title：American journal of human genetics

authors： Jamieson CR,Fryns JP,Jacobs J,Matthijs G,Abramowicz MJ

更新日期：2000-12-01 00:00:00

abstract：:Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in thes...

journal_title：American journal of human genetics

authors： Wooderchak-Donahue WL,McDonald J,O'Fallon B,Upton PD,Li W,Roman BL,Young S,Plant P,Fülöp GT,Langa C,Morrell NW,Botella LM,Bernabeu C,Stevenson DA,Runo JR,Bayrak-Toydemir P

更新日期：2013-09-05 00:00:00

abstract：:Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. Variable features include retinal dystrophy, cystic kidney disease, and liver fibrosis. JSRD ...

journal_title：American journal of human genetics

authors： Gorden NT,Arts HH,Parisi MA,Coene KL,Letteboer SJ,van Beersum SE,Mans DA,Hikida A,Eckert M,Knutzen D,Alswaid AF,Ozyurek H,Dibooglu S,Otto EA,Liu Y,Davis EE,Hutter CM,Bammler TK,Farin FM,Dorschner M,Topçu M,Zacka

更新日期：2008-11-01 00:00:00

abstract：:We have analyzed 247 Brazilian mtDNAs for hypervariable segment (HVS)-I and selected restriction fragment-length-polymorphism sites, to assess their ancestry in different continents. The total sample showed nearly equal amounts of Native American, African, and European matrilineal genetic contribution but with regiona...

journal_title：American journal of human genetics

authors： Alves-Silva J,da Silva Santos M,Guimarães PE,Ferreira AC,Bandelt HJ,Pena SD,Prado VF

更新日期：2000-08-01 00:00:00

abstract：:Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. The performance of those systems relies on the quantity and quality of...

journal_title：American journal of human genetics

authors： Fujiwara T,Yamamoto Y,Kim JD,Buske O,Takagi T

更新日期：2018-09-06 00:00:00

abstract：:Mitochondrial DNA (mtDNA) polymorphisms were detected using 13 restriction enzymes on the total DNA obtained from blood samples of five Asian populations: Japanese and Ainu of northern Japan, Korean, Negrito (Aeta) of the Philippines, and Vedda of Sri Lanka. Of a total of 28 restriction-enzyme morphs detected, eight h...

journal_title：American journal of human genetics

authors： Harihara S,Saitou N,Hirai M,Gojobori T,Park KS,Misawa S,Ellepola SB,Ishida T,Omoto K

更新日期：1988-08-01 00:00:00

abstract：:Intracytoplasmic sperm injection (ICSI) has been used in combination with testicular sperm extraction to achieve pregnancies in couples with severe male-factor infertility, yet many of the underlying genetic mechanisms remain largely unknown. To investigate nondisjunction in mitotic and meiotic germ cells, we performe...

journal_title：American journal of human genetics

authors： Huang WJ,Lamb DJ,Kim ED,de Lara J,Lin WW,Lipshultz LI,Bischoff FZ

更新日期：1999-06-01 00:00:00

abstract：:Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three l...

journal_title：American journal of human genetics

authors： Goldstein AM,Dracopoli NC,Ho EC,Fraser MC,Kearns KS,Bale SJ,McBride OW,Clark WH Jr,Tucker MA

更新日期：1993-03-01 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：:We have identified a new mutation in mtDNA, involving tRNALeu(CUN) in a patient manifesting an isolated skeletal myopathy. This heteroplasmic A-->G transition at position 12320 affects the T psi C loop at a conserved site and was not found in 120 controls. Analysis of cultured fibroblasts, white blood cells/platelets,...

journal_title：American journal of human genetics

authors： Weber K,Wilson JN,Taylor L,Brierley E,Johnson MA,Turnbull DM,Bindoff LA

更新日期：1997-02-01 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 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：:RNA sequencing (RNA-seq) is gaining popularity as a complementary assay to genome sequencing for precisely identifying the molecular causes of rare disorders. A powerful approach is to identify aberrant gene expression levels as potential pathogenic events. However, existing methods for detecting aberrant read counts ...

journal_title：American journal of human genetics

authors： Brechtmann F,Mertes C,Matusevičiūtė A,Yépez VA,Avsec Ž,Herzog M,Bader DM,Prokisch H,Gagneur J

更新日期：2018-12-06 00:00:00

abstract：:Knowledge of haplotype phase is valuable for many analysis methods in the study of disease, population, and evolutionary genetics. Considerable research effort has been devoted to the development of statistical and computational methods that infer haplotype phase from genotype data. Although a substantial number of su...

journal_title：American journal of human genetics

authors： Marchini J,Cutler D,Patterson N,Stephens M,Eskin E,Halperin E,Lin S,Qin ZS,Munro HM,Abecasis GR,Donnelly P,International HapMap Consortium.

更新日期：2006-03-01 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：:Obesity is an increasingly serious health problem in the world. Body mass index (BMI), percentage fat mass, and body fat mass are important indices of obesity. For a sample of pedigrees that contains >10,000 relative pairs (including 1,249 sib pairs) that are useful for linkage analyses, we performed a whole-genome li...

journal_title：American journal of human genetics

authors： Deng HW,Deng H,Liu YJ,Liu YZ,Xu FH,Shen H,Conway T,Li JL,Huang QY,Davies KM,Recker RR

更新日期：2002-05-01 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 overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detailed analyses conclusively confirming these variants, as well as the und...

journal_title：American journal of human genetics

authors： Kim JH,Shinde DN,Reijnders MRF,Hauser NS,Belmonte RL,Wilson GR,Bosch DGM,Bubulya PA,Shashi V,Petrovski S,Stone JK,Park EY,Veltman JA,Sinnema M,Stumpel CTRM,Draaisma JM,Nicolai J,University of Washington Center for Mende

更新日期：2016-09-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner. However SMN2 is not the sole phenotypic modifier, because there are discrepant SMA...

journal_title：American journal of human genetics

authors： Prior TW,Krainer AR,Hua Y,Swoboda KJ,Snyder PC,Bridgeman SJ,Burghes AH,Kissel JT

更新日期：2009-09-01 00:00:00

abstract：:X-linked hydrocephalus is a well-defined disorder which accounts for > or = 7% of hydrocephalus in males. Pathologically, the condition is characterized by stenosis or obliteration of the aqueduct of Sylvius. Previous genetic linkage studies have suggested the likelihood of genetic homogeneity for this condition, with...

journal_title：American journal of human genetics

authors： Strain L,Gosden CM,Brock DJ,Bonthron DT

更新日期：1994-02-01 00:00:00

abstract：:Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. We ascertained two multiplex families (including one consanguineous family) consistent wi...

journal_title：American journal of human genetics

authors： Thevenon J,Milh M,Feillet F,St-Onge J,Duffourd Y,Jugé C,Roubertie A,Héron D,Mignot C,Raffo E,Isidor B,Wahlen S,Sanlaville D,Villeneuve N,Darmency-Stamboul V,Toutain A,Lefebvre M,Chouchane M,Huet F,Lafon A,de Saint

更新日期：2014-07-03 00:00:00

abstract：:Although balanced translocations are among the most common human chromosomal aberrations, the constitutional t(11;22)(q23;q11) is the only known recurrent non-Robertsonian translocation. Evidence indicates that de novo formation of the t(11;22) occurs during meiosis. To test the hypothesis that spatial proximity of ch...

journal_title：American journal of human genetics

authors： Ashley T,Gaeth AP,Inagaki H,Seftel A,Cohen MM,Anderson LK,Kurahashi H,Emanuel BS

更新日期：2006-09-01 00:00:00

abstract：:The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major alpha-tubulin isoform, and micr...

journal_title：American journal of human genetics

authors： Abdollahi MR,Morrison E,Sirey T,Molnar Z,Hayward BE,Carr IM,Springell K,Woods CG,Ahmed M,Hattingh L,Corry P,Pilz DT,Stoodley N,Crow Y,Taylor GR,Bonthron DT,Sheridan E

更新日期：2009-11-01 00:00:00

abstract：:The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystro...

journal_title：American journal of human genetics

authors： Goldman A,Ramsay M,Jenkins T

更新日期：1995-06-01 00:00:00

abstract：:Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studi...

journal_title：American journal of human genetics

authors： Ferrell RE,Baty CJ,Kimak MA,Karlsson JM,Lawrence EC,Franke-Snyder M,Meriney SD,Feingold E,Finegold DN

更新日期：2010-06-11 00:00:00

abstract：:Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found tw...

journal_title：American journal of human genetics

authors： Lowden JA,Ives EJ,Keene DL,Burton AL,Skomorowski MA,Howard F

更新日期：1978-01-01 00:00:00

abstract：:An astonishing amount of behavioral variation is captured within the more than 350 breeds of dog recognized worldwide. Inherent in observations of dog behavior is the notion that much of what is observed is breed specific and will persist, even in the absence of training or motivation. Thus, herding, pointing, trackin...

journal_title：American journal of human genetics

authors： Spady TC,Ostrander EA

更新日期：2008-01-01 00:00:00

abstract：:Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged <40 years. In a Lebanese family with five sisters who received the diagnosis of POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3), using whole-genome SNP typing and homozy...

journal_title：American journal of human genetics

authors： Lacombe A,Lee H,Zahed L,Choucair M,Muller JM,Nelson SF,Salameh W,Vilain E

更新日期：2006-07-01 00:00:00

abstract：:Pregnancy-induced hypertension may be regarded as a manifestation of endothelial-cell dysfunction. The role of the eNOS gene in the development of a familial pregnancy-induced hypertension was evaluated by analysis of linkage among affected sisters and in multiplex families (n = 50). Markers from a 4-cM region encodin...

journal_title：American journal of human genetics

authors： Arngrímsson R,Hayward C,Nadaud S,Baldursdóttir A,Walker JJ,Liston WA,Bjarnadóttir RI,Brock DJ,Geirsson RT,Connor JM,Soubrier F

更新日期：1997-08-01 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