Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.

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：: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：:Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clini...

journal_title：American journal of human genetics

authors： Flanagan SE,Xie W,Caswell R,Damhuis A,Vianey-Saban C,Akcay T,Darendeliler F,Bas F,Guven A,Siklar Z,Ocal G,Berberoglu M,Murphy N,O'Sullivan M,Green A,Clayton PE,Banerjee I,Clayton PT,Hussain K,Weedon MN,Ellard S

更新日期：2013-01-10 00:00:00

abstract：:The results of an empirical nucleotide-sequencing approach indicate that the evolution of the human mitochondrial noncoding D-loop is both more rapid and more complex than is revealed by standard phylogenetic approaches. The nucleotide sequence of the D-loop region of the mitochondrial genome was determined for 45 mem...

journal_title：American journal of human genetics

authors： Howell N,Kubacka I,Mackey DA

更新日期：1996-09-01 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：:Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial in nature. Cutaneous findings are...

journal_title：American journal of human genetics

authors： Lee-Kirsch MA,Gong M,Schulz H,Rüschendorf F,Stein A,Pfeiffer C,Ballarini A,Gahr M,Hubner N,Linné M

更新日期：2006-10-01 00:00:00

abstract：:The maximum-likelihood-binomial (MLB) method, based on the binomial distribution of parental marker alleles among affected offspring, recently was shown to provide promising results by two-point linkage analysis of affected-sibship data. In this article, we extend the MLB method to multipoint linkage analysis, using t...

journal_title：American journal of human genetics

authors： Abel L,Müller-Myhsok B

更新日期：1998-08-01 00:00:00

abstract：:We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian descent and further fine mapping of the 1p34-p36, 4q28-q31, and 6q15-q24 regions. An additional sample of 56 German famili...

journal_title：American journal of human genetics

authors： Schumacher J,Kaneva R,Jamra RA,Diaz GO,Ohlraun S,Milanova V,Lee YA,Rivas F,Mayoral F,Fuerst R,Flaquer A,Windemuth C,Gay E,Sanz S,González MJ,Gil S,Cabaleiro F,del Rio F,Perez F,Haro J,Kostov C,Chorbov V,Nikolo

更新日期：2005-12-01 00:00:00

abstract：:Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a four-generation family with 23 members affected by the axonal form (...

journal_title：American journal of human genetics

authors： Weedon MN,Hastings R,Caswell R,Xie W,Paszkiewicz K,Antoniadi T,Williams M,King C,Greenhalgh L,Newbury-Ecob R,Ellard S

更新日期：2011-08-12 00:00:00

abstract：:Central core disease (CCO) is an autosomal dominant myopathy clinically distinct from malignant hyperthermia (MHS). In a large kindred in which the gene for CCO is segregating, two-point linkage analysis gave a maximum lod score, between the central core disease locus (CCO) and the ryanodine receptor locus (RYR1), of ...

journal_title：American journal of human genetics

authors： Mulley JC,Kozman HM,Phillips HA,Gedeon AK,McCure JA,Iles DE,Gregg RG,Hogan K,Couch FJ,MacLennan DH

更新日期：1993-02-01 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：:It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown ...

journal_title：American journal of human genetics

authors： Shashi V,Golden WL,Allinson PS,Blanton SH,von Kap-Herr C,Kelly TE

更新日期：1996-06-01 00:00:00

abstract：:X chromosome inactivation results in the random transcriptional silencing of one of the two X chromosomes early in female development. After random inactivation, certain deleterious X-linked mutations can create a selective disadvantage for cells in which the mutation is on the active X chromosome, leading to X inacti...

journal_title：American journal of human genetics

authors： Plenge RM,Tranebjaerg L,Jensen PK,Schwartz C,Willard HF

更新日期：1999-03-01 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：:Family studies of schizophrenia have reported elevated rates of both definite and definite-plus-probable schizophrenia among the relatives of definite schizophrenics. These elevated rates imply a strong association between the two forms of diagnosis and suggest some form of familial transmission. Here we have used rec...

journal_title：American journal of human genetics

authors： McGue M,Gottesman II,Rao DC

更新日期：1983-11-01 00:00:00

abstract：:Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, inc...

journal_title：American journal of human genetics

authors： Ghassibe-Sabbagh M,Desmyter L,Langenberg T,Claes F,Boute O,Bayet B,Pellerin P,Hermans K,Backx L,Mansilla MA,Imoehl S,Nowak S,Ludwig KU,Baluardo C,Ferrian M,Mossey PA,Noethen M,Dewerchin M,François G,Revencu N,Vanw

更新日期：2011-02-11 00:00:00

abstract：:Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is a common, highly heritable neurobehavioral disorder of childhood onset, characterized by hyperactivity, impulsivity, and/or inattention. As part of an ongoing study of the genetic etiology of ADHD, we have performed a genomewide linkage scan in 204 nuclea...

journal_title：American journal of human genetics

authors： Ogdie MN,Macphie IL,Minassian SL,Yang M,Fisher SE,Francks C,Cantor RM,McCracken JT,McGough JJ,Nelson SF,Monaco AP,Smalley SL

更新日期：2003-05-01 00:00:00

abstract：:Renal stone formation is a common multifactorial disorder, of unknown etiology, with an established genetic contribution. Lifetime risk for nephrolithiasis is approximately 10% in Western populations, and uric acid stones account for 5%-10% of all stones, depending on climatic, dietary, and ethnic differences. We stud...

journal_title：American journal of human genetics

authors： Ombra MN,Forabosco P,Casula S,Angius A,Maestrale G,Petretto E,Casu G,Colussi G,Usai E,Melis P,Pirastu M

更新日期：2001-05-01 00:00:00

abstract：:Thyroid-stimulating hormone (TSH) controls thyroid growth and hormone secretion through binding to its G protein-coupled receptor (TSHR) and production of cyclic AMP (cAMP). Serum TSH is a sensitive indicator of thyroid function, and overt abnormalities in thyroid function lead to common endocrine disorders affecting ...

journal_title：American journal of human genetics

authors： Arnaud-Lopez L,Usala G,Ceresini G,Mitchell BD,Pilia MG,Piras MG,Sestu N,Maschio A,Busonero F,Albai G,Dei M,Lai S,Mulas A,Crisponi L,Tanaka T,Bandinelli S,Guralnik JM,Loi A,Balaci L,Sole G,Prinzis A,Mariotti S,

更新日期：2008-06-01 00:00:00

abstract：:We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. We screened 187 unrelated male patients for mutations, including 135 with a prior clinical diagnosis of XLRP, 11 with...

journal_title：American journal of human genetics

authors： Sharon D,Sandberg MA,Rabe VW,Stillberger M,Dryja TP,Berson EL

更新日期：2003-11-01 00:00:00

abstract：:Eighty unrelated individuals with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locus. This region includes the last five exons detected by cDNA5b-7, all exons detected by cDNA8, and the first two exons detected by cDNA9. ...

journal_title：American journal of human genetics

authors： Gillard EF,Chamberlain JS,Murphy EG,Duff CL,Smith B,Burghes AH,Thompson MW,Sutherland J,Oss I,Bodrug SE

更新日期：1989-10-01 00:00:00

abstract：:Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients, producing an abnorma...

journal_title：American journal of human genetics

authors： Yoshida K,Oshima A,Shimmoto M,Fukuhara Y,Sakuraba H,Yanagisawa N,Suzuki Y

更新日期：1991-08-01 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：: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：:Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia...

journal_title：American journal of human genetics

authors： Fantes JA,Bickmore WA,Fletcher JM,Ballesta F,Hanson IM,van Heyningen V

更新日期：1992-12-01 00:00:00

abstract：:We report here the characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides, some matrilineal relatives in this family exhibited late-onset/progressive deafness, with a wide range of severity and age at onset. Notably, th...

journal_title：American journal of human genetics

authors： Zhao H,Li R,Wang Q,Yan Q,Deng JH,Han D,Bai Y,Young WY,Guan MX

更新日期：2004-01-01 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：: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：: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：:Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the othe...

journal_title：American journal of human genetics

authors： Ogilvie DJ,Wordsworth BP,Priestley LM,Dalgleish R,Schmidtke J,Zoll B,Sykes BC

更新日期：1987-12-01 00:00:00