Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).

abstract：:When population geneticists wish to determine the genetic consequences of some aspect of mating behavior, it is often necessary to compare observed levels of consanguinity to the level expected when mating is random with respect to the factor being studied. Expectations under random mating are often derived from discr...

journal_title：American journal of human genetics

authors： Leslie PW

更新日期：1983-09-01 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 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：:Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (an...

journal_title：American journal of human genetics

authors： Veldhuisen B,Saris JJ,de Haij S,Hayashi T,Reynolds DM,Mochizuki T,Elles R,Fossdal R,Bogdanova N,van Dijk MA,Coto E,Ravine D,Nørby S,Verellen-Dumoulin C,Breuning MH,Somlo S,Peters DJ

更新日期：1997-09-01 00:00:00

abstract：:Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease. Recent developments in sequencing technologies and computational biology have allowed...

journal_title：American journal of human genetics

authors： Park E,Pan Z,Zhang Z,Lin L,Xing Y

更新日期：2018-01-04 00:00:00

abstract：:Permanent teeth of 12 individuals with a 47,XYY chromosome constitution have been examined. The tooth sizes of 47,XYY males were found to be larger than those of control males and females. In many instances the differences were statistically significant. Using these results, it was possible to conclude that a factor ...

journal_title：American journal of human genetics

authors： Alvesalo L,Osborne RH,Kari M

更新日期：1975-01-01 00:00:00

abstract：:New human mutations are thought to originate in germ cells, thus making a recurrence of the same mutation in a sibling exceedingly rare. However, increasing sensitivity of genomic technologies has anecdotally revealed mosaicism for mutations in somatic tissues of apparently healthy parents. Such somatically mosaic par...

journal_title：American journal of human genetics

authors： Campbell IM,Yuan B,Robberecht C,Pfundt R,Szafranski P,McEntagart ME,Nagamani SC,Erez A,Bartnik M,Wiśniowiecka-Kowalnik B,Plunkett KS,Pursley AN,Kang SH,Bi W,Lalani SR,Bacino CA,Vast M,Marks K,Patton M,Olofsson P,P

更新日期：2014-08-07 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：:We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early dea...

journal_title：American journal of human genetics

authors： Wortmann SB,Ziętkiewicz S,Kousi M,Szklarczyk R,Haack TB,Gersting SW,Muntau AC,Rakovic A,Renkema GH,Rodenburg RJ,Strom TM,Meitinger T,Rubio-Gozalbo ME,Chrusciel E,Distelmaier F,Golzio C,Jansen JH,van Karnebeek C,Lillqu

更新日期：2015-02-05 00:00:00

abstract：:Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCOF1 locus has been localized to chromosome 5q32-33.2. In the present study we have used the combined techniques of genetic linkage analysis and ...

journal_title：American journal of human genetics

authors： Dixon MJ,Dixon J,Houseal T,Bhatt M,Ward DC,Klinger K,Landes GM

更新日期：1993-05-01 00:00:00

abstract：:The Hawaii Family Study of Cognition provided an opportunity to investigate the frequency and implications of non-agreement, or mismatches, between observed and expected genetic marker phenotypes of husbands, wives, and children. Mismatch data from 68 families in which one or both spouses were known not to be a biolog...

journal_title：American journal of human genetics

authors： Ashton GC

更新日期：1980-07-01 00:00:00

abstract：:Animal microRNAs (miRNAs) regulate gene expression through base pairing to their targets within the 3' untranslated region (UTR) of protein-coding genes. Single-nucleotide polymorphisms (SNPs) located within such target sites can affect miRNA regulation. We mapped annotated SNPs onto a collection of experimentally sup...

journal_title：American journal of human genetics

authors： Sethupathy P,Borel C,Gagnebin M,Grant GR,Deutsch S,Elton TS,Hatzigeorgiou AG,Antonarakis SE

更新日期：2007-08-01 00:00:00

abstract：:X inactivation involves initiation, propagation, and maintenance of genetic inactivation. Studies of replication timing in X;autosome translocations have suggested that X inactivation may spread into adjacent autosomal DNA. To examine the inactivation of autosomal material at the molecular level, we assessed the trans...

journal_title：American journal of human genetics

authors： White WM,Willard HF,Van Dyke DL,Wolff DJ

更新日期：1998-07-01 00:00:00

abstract：:The Lowe syndrome (LS), or oculocerebrorenal syndrome, has been studied using DNA-based linkage analysis, and the findings have been correlated with the result of a thorough ophthalmologic examination. It was found that the LS gene was linked to markers in the Xq24-q26 region and that the locus DXS42 was the most clos...

journal_title：American journal of human genetics

authors： Wadelius C,Fagerholm P,Pettersson U,Annerén G

更新日期：1989-02-01 00:00:00

abstract：:Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. It is characterized by collodion babies at birth, dramatically increased transepidermal water loss (TEWL), and lifelong pronounced scaling. The disease has a tremen...

journal_title：American journal of human genetics

authors： Aufenvenne K,Larcher F,Hausser I,Duarte B,Oji V,Nikolenko H,Del Rio M,Dathe M,Traupe H

更新日期：2013-10-03 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 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：:Chromosomal aneuploidy is usually identified by cytogenetic methods. However, for some purposes it would be desirable to have an easier method of recognizing specific trisomies or monosomies. We have devised such an assay. It involves the simultaneous hybridization of two chromosome-specific DNA probes labeled with di...

journal_title：American journal of human genetics

authors： Dahl HH,Choo KH,Danks DM

更新日期：1988-10-01 00:00:00

abstract：:Inhibition of replicative DNA synthesis following gamma-irradiation is observed in eukaryotic cells but is defective in cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) and in A-T-like Chinese hamster cell mutants. Chinese hamster cells show a less pronounced inhibition ...

journal_title：American journal of human genetics

authors： Verhaegh GW,Jongmans W,Jaspers NG,Natarajan AT,Oshimura M,Lohman PH,Zdzienicka MZ

更新日期：1995-11-01 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：:Nondisjunction in trisomy 21 has traditionally been studied by cytogenetic heteromorphisms. Those studies assumed no crossing-over on the short arm of chromosome 21. Recently, increased accuracy of detection of the origin of nondisjunction has been demonstrated by DNA polymorphism analysis. We describe a comparative s...

journal_title：American journal of human genetics

authors： Peterson MB,Frantzen M,Antonarakis SE,Warren AC,Van Broeckhoven C,Chakravarti A,Cox TK,Lund C,Olsen B,Poulsen H

更新日期：1992-09-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive con...

journal_title：American journal of human genetics

authors： Zhou J,Tawk M,Tiziano FD,Veillet J,Bayes M,Nolent F,Garcia V,Servidei S,Bertini E,Castro-Giner F,Renda Y,Carpentier S,Andrieu-Abadie N,Gut I,Levade T,Topaloglu H,Melki J

更新日期：2012-07-13 00:00:00

abstract：:Although Africa has played a central role in human evolutionary history, certain studies have suggested that not all contemporary human genetic diversity is of recent African origin. We investigated 35 simple polymorphic sites and one T(n) microsatellite in an 8-kb segment of the dystrophin gene. We found 86 haplotype...

journal_title：American journal of human genetics

authors： Zietkiewicz E,Yotova V,Gehl D,Wambach T,Arrieta I,Batzer M,Cole DE,Hechtman P,Kaplan F,Modiano D,Moisan JP,Michalski R,Labuda D

更新日期：2003-11-01 00:00:00

abstract：:The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown. Rece...

journal_title：American journal of human genetics

authors： Astuti D,Latif F,Dallol A,Dahia PL,Douglas F,George E,Sköldberg F,Husebye ES,Eng C,Maher ER

更新日期：2001-07-01 00:00:00

abstract：:The determination of gene-by-gene and gene-by-environment interactions has long been one of the greatest challenges in genetics. The traditional methods are typically inadequate because of the problem referred to as the "curse of dimensionality." Recent combinatorial approaches, such as the multifactor dimensionality ...

journal_title：American journal of human genetics

authors： Lou XY,Chen GB,Yan L,Ma JZ,Zhu J,Elston RC,Li MD

更新日期：2007-06-01 00:00:00

abstract：:Despite a significant genetic contribution to alcohol dependence (AD), few AD-risk genes have been identified to date. In the current study, we aimed to integrate genome-wide association studies (GWASs) and human protein interaction networks to investigate whether a subnetwork of genes whose protein products interact ...

journal_title：American journal of human genetics

authors： Han S,Yang BZ,Kranzler HR,Liu X,Zhao H,Farrer LA,Boerwinkle E,Potash JB,Gelernter J

更新日期：2013-12-05 00:00:00

abstract：:The common 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism causes decreased activity of this enzyme and can be associated with mild-to-moderate hyperhomocysteinemia in homozygotes, particularly when there is folic acid deficiency, as well as with vascular dementia, arterial thrombosis, venous throm...

journal_title：American journal of human genetics

authors： Rosenberg N,Murata M,Ikeda Y,Opare-Sem O,Zivelin A,Geffen E,Seligsohn U

更新日期：2002-03-01 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：:Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I structural subunits or assembly factors. Such genetic heterogeneity means that application of next-g...

journal_title：American journal of human genetics

authors： Alston CL,Heidler J,Dibley MG,Kremer LS,Taylor LS,Fratter C,French CE,Glasgow RIC,Feichtinger RG,Delon I,Pagnamenta AT,Dolling H,Lemonde H,Aiton N,Bjørnstad A,Henneke L,Gärtner J,Thiele H,Tauchmannova K,Quaghebeur G

更新日期：2018-10-04 00:00:00

abstract：:Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other, a marked elevation of glutaric aci...

journal_title：American journal of human genetics

authors： Goodman SI,Gallegos DA,Pullin CJ,Halpern B,Truscott RJ,Wise G,Wilcken B,Ryan ED,Whelen DT

更新日期：1980-09-01 00:00:00