chromosome 15q11 13 associated imprinting disorders

báo cáo khoa học: " Proteomic and metabolomic strategies to investigate HIV-associated neurocognitive disorders" ppt

... cognitive disorders and those without such disorders In plasma, however, ELISA analyses revealed a sequential increase in OPN across different diagnostic categories of HIV -associated neurocognitive disorders ... HIV -associated cognitive impairment before and after the advent of combination therapy J Neurovirol 2002, 8 :136 -142 Woods SP, Moore DJ, Weber E, Grant I: Cognitive neuropsychology of HIV associated ... References Ong EL: Common AIDS -associated opportunistic infections Clin Med 2008, 8:539-543 Yadav A, Collman RG: CNS inflammation and macrophage/microglial biology associated with HIV-1 infection...

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Báo cáo y học: "Effect of anti-IgE therapy on food allergen specific T cell responses in eosinophil associated gastrointestinal disorders" pot

Danh mục: Báo cáo khoa học

... gastrointestinal disease and peanut allergy are alternatively associated with IL-5+ and IL-5(-) T(H)2 responses J Allergy Clin Immunol 2009, 124 :132 6 -133 2, e1326 15 Turcanu V, Maleki SJ, Lack G: Characterization ... Chapter 5, Unit 13 Foroughi S, Foster B, Kim N, Bernardino LB, Scott LM, Hamilton RG, Metcalfe DD, Mannon PJ, Prussin C: Anti-IgE treatment of eosinophilassociated gastrointestinal disorders J Allergy ... assessed food allergen specific T cell responses in patients with allergic eosinophil associated gastrointestinal disorders (EGID) during a clinical trial of omalizumab Using carboxyfluorescein succinimidyl...

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Tài liệu Photoreceptor Sensory Cilium and Associated Disorders pptx

Danh mục: Sức khỏe giới tính

... domain of the CEP290 protein SMC: Structural Maintenance of Chromosomes; CC: coiled coil Photoreceptor Sensory Cilium and Associated Disorders 51 RPGRIP1 RPGRIP1 is a ciliary protein that associates ... RPGR, RPGR-interacting protein (RPGRIP1) [34-35], CEP290/NPHP6 [36-37], MKS -associated proteins and other JBTS and NPHP -associated proteins [6, 38] Interestingly, these proteins exist in discrete ... the IS [40-41] Mutations in rhodopsin that affect its trafficking to OS are associated with degenerative blindness disorders of the retina [42-47] Moreover, ablation of IFT subunit IFT20, which...

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Tài liệu Photoreceptor Sensory Cilium and Associated Disorders docx

Danh mục: Sức khỏe giới tính

... domain of the CEP290 protein SMC: Structural Maintenance of Chromosomes; CC: coiled coil Photoreceptor Sensory Cilium and Associated Disorders 51 RPGRIP1 RPGRIP1 is a ciliary protein that associates ... RPGR, RPGR-interacting protein (RPGRIP1) [34-35], CEP290/NPHP6 [36-37], MKS -associated proteins and other JBTS and NPHP -associated proteins [6, 38] Interestingly, these proteins exist in discrete ... the IS [40-41] Mutations in rhodopsin that affect its trafficking to OS are associated with degenerative blindness disorders of the retina [42-47] Moreover, ablation of IFT subunit IFT20, which...

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báo cáo hóa học: " Upper limb impairments associated with spasticity in neurological disorders" pptx

Danh mục: Hóa học - Dầu khí

... Neuroscience 2006, 139 :749-765 Koshland GF, Galloway JC, Farley B: Novel muscle patterns for reaching after cervical spinal cord injury: a case for motor redundancy Exp Brain Res 2005, 164 :133 -147 Mirbagheri ... characterized In stroke, although some kinematic parameters of the spastic arm have been measured [11 -13] , some unresolved issues remain First, elbow movement has been described over only a narrow portion ... movements of spastic arms are characterized by the loss of smoothness in the movement trajectory [13, 21,22] In healthy subjects movement trajectories are smooth (Fig 2-A1) with single-peaked, bell-shaped...

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Spinal Disorders: Fundamentals of Diagnosis and Treatment Part 13 pdf

Danh mục: Sức khỏe người cao tuổi

... Elastin minor component (2 %) Chondronectin minor component References [126] [87, 122] [87, 134 ] [8, 134 ] role unclear mechanical function role unclear [41, 97] [8] [57, 76, 81, 127, 157] 97 98 ... 95, 138 ] Thompson’s grading system distinguishes five stages that describe age-related degeneration from healthy young discs leading to old heavily degenerated intervertebral disc (Fig 4) [138 ]: ... minor components including collagen III, V, VI, IX, X, XI, XII and XIV [5, 10, 29, 31, 38, 43, 113] and also small proteoglycans such as lumican, biglycan, decorin and fibromodulin and other non-collagenous...

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Chapter 027. Aphasia, Memory Loss, and Other Focal Cerebral Disorders (Part 13) doc

Danh mục: Sức khỏe giới tính

... when the office examination of mental state may be quite intact The abulic syndrome tends to be associated with damage to the dorsolateral prefrontal cortex, and the disinhibition syndrome with ... memory) is an attentional function based on the temporary online holding of information It is closely associated with the integrity of the prefrontal network and the ascending reticular activating system ... Retentive memory, on the other hand, depends on the stable (offline) storage of information and is associated with the integrity of the limbic network The distinction of the underlying neural mechanisms...

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Chapter 028. Sleep Disorders (Part 13) pps

Danh mục: Sức khỏe giới tính

... rates of cancer and of cardiac, gastrointestinal, and reproductive disorders in chronic night-shift workers Sleep onset is associated with marked attenuation in perception of both auditory and ... judges to be clinically significant; the condition is associated with an increased risk of sleep-related accidents and with some of the illnesses associated with night-shift work Patients with chronic ... More than 60 million persons experience transmeridian air travel annually, which is often associated with excessive daytime sleepiness, sleep onset insomnia, and frequent arousals from sleep,...

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Chapter 030. Disorders of Smell, Taste, and Hearing (Part 13) docx

Danh mục: Sức khỏe giới tính

... and assessing cochlear patency for preoperative evaluation of patients for cochlear implantation Disorders of the Sense of Hearing: Treatment In general, conductive hearing losses are amenable ... media or trauma can be repaired with an outpatient tympanoplasty Likewise, conductive hearing loss associated with otosclerosis can be treated by stapedectomy, which is successful in 90–95% of cases ... generation of hearing aids can be placed entirely within the ear canal, thus reducing any stigma associated with their use In general, the more severe the hearing impairment, the larger the hearing...

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Chapter 063. Chromosome Disorders (Part 2) potx

Danh mục: Sức khỏe giới tính

... using chromosome 13 (green) and chromosome 21 (red) unique sequence probes on interphase cells from direct amniotic fluid preparations In "A" (a normal cell), two signals for both chromosomes 13 ... three separate chromosomes, indicating the presence of trisomy in this individual D Microdeletion detection: Two-color FISH is used to detect a microdeletion of chromosome 22 associated with ... on the distal portion of chromosome 22, visualized as a green signal) is observed on both chromosomes 22 However, a probe for TUPLE1 (a locus within the VCF region of chromosome 22, visualized...

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Chapter 063. Chromosome Disorders (Part 3) pptx

Danh mục: Sức khỏe giới tính

... uncultured amniotic fluid, typically using DNA probes specific for the chromosomes most commonly identified in trisomies (chromosomes 13, 18, 21, and the X and Y) These studies can be performed rapidly ... combinatorially labeled probes that create a unique color for individual chromosomes This technology is useful in the identification of unknown chromosome material (such as markers of duplications) but is ... to normal chromosomes Depending on the type of array (most are constructed utilizing either BACs or oligonucleotides), the resolution can be up to 150 kb, far greater than for standard chromosome...

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Chapter 063. Chromosome Disorders (Part 4) doc

Danh mục: Sức khỏe giới tính

... detection of mosaicism Chromosome Abnormalities Chromosomes in Cell Division To understand the etiology of chromosome abnormalities, it is important to review the movement of chromosomes during cell ... tissues, chromosomes are replicated during the S-phase of the cell cycle, so that each replicated chromosome consists of two identical sister chromatids When the cell enters mitosis, each of the 46 chromosomes ... Abnormalities (Frequency) Average, % Abnormal (nonspecific) ultrasound Range in Different Studies, % 16 13 35 Omphalocele 39 26–54 Cystic hygroma 68 46–78 Congenital heart disease 30 8–40 Choroid plexus...

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Chapter 063. Chromosome Disorders (Part 5) pptx

Danh mục: Sức khỏe giới tính

... additional (trisomy) or missing (monosomy) chromosomes, or those with one (triploidy) or two (tetraploidy) additional sets of chromosomes Structural chromosome abnormalities are much less common, ... homologous chromosomes pair and exchange genetic material, then align on the metaphase plate, and finally separate from one another Thus, by the end of meiosis I, only 23 of the original 46 chromosomes ... Chromosome segregation is more complicated in germ cell division, since the number of chromosomes must be reduced from 46 to 23 in the mature...

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Chapter 063. Chromosome Disorders (Part 8) ppsx

Danh mục: Sức khỏe giới tính

... acrocentric chromosomes (chromosomes 13, 14, 15, 21, and 22) join together, generating a fusion chromosome that contains virtually all of the genetic material of the original two chromosomes ... most often involving chromosomes 14 and 21 In this instance, the affected individual has 46 chromosomes, including one structurally normal chromosome 14, two structurally normal chromosomes 21, and ... hereditary form of chromosome abnormality Rearrangements may involve exchanges of material between different chromosomes (translocations) or loss, gain, or rearrangements of individual chromosomes (e.g.,...

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Chapter 063. Chromosome Disorders (Part 9) pps

Danh mục: Sức khỏe giới tính

... retardation imprinting disorder text) Angelman 15q11- 13 Ataxic gait With (see syndrome (del) Prader-Willi syndrome, prototypic imprinting disorder text) α-Thalassemia and mental retardation α- 16p13.3 ... Retinoblastoma 13q14.11 (del) Retinoblasto ma due No to obvious effect, homozygous loss of although functional RB allele abnormal RB allele more likely to be paternal Prader-Willi syndrome 15q11- 13 (del) ... complex 11p13 (del) Wilms' tumor, No aniridia, genitourinary disorders, mental retardation Beckwith- 11p15 Macrosomia, Yes, Wiedemann syndrome (dup) macroglossia, occasionally omphalocoele associated...

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Chapter 063. Chromosome Disorders (Part 10) doc

Danh mục: Sức khỏe giới tính

... duplicationcarrying chromosome Imprinting Disorders Two other microdeletion syndromes, Prader-Willi syndrome (PWS) and Angelman syndrome (AS), exhibit parent-of-origin, or "imprinting, " effects ... of PWS cases are due to paternal deletions of 15q11q13, whereas 25% are due to maternal UPD, and about 5% are caused by mutations in a chromosome 15 imprinting center In AS, 75% of cases are due ... recognition that not all individuals with PWS or AS carry the chromosome 15 deletion For such individuals, the parental origin of the chromosome 15 region is again the important determinant In PWS,...

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Chapter 099. Disorders of Hemoglobin (Part 13) ppsx

Danh mục: Sức khỏe giới tính

... should focus on the interaction of HbE with β-thalassemia rather than HbE homozygosity, a condition associated with asymptomatic microcytosis, hypochromia, and hemoglobin levels rarely

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Báo cáo lâm nghiệp: "Do trees use reserve or newly assimilated carbon for their defense reactions? A 13 C labeling approach with young Scots pines inoculated with a bark-beetle-associated fungus (Ophiostoma brunneo ciliatum" pptx

Danh mục: Báo cáo khoa học

... (Nutricote 100 N/P/K 13/ 13 /13 + oligo-elements; g.L−1 = 40 g.pot−1 ) soil 2.2 Labeling procedure Twelve individuals were randomly sampled in this population, and submitted to a 13 C labeling procedure ... of isotopic ratio (13 C/12 C) were automatically corrected with the PDB standard to obtain 13 C: 13 C( ) = (Rs /RPDB − 1) × 103 , where Rs and RPDB are isotopic ratios (13 C/12 C) of sample ... continuously mixing a small ﬂow of 13 CO2 diluted in N2 (cylinder 1, 11 atom% 13 C, Eurisotop, CEA, France) with a ﬂow of industrial CO2 (Cylinder 2, 1.08 atom% 13 C) Chamber temperature was 20...

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Báo cáo khoa học: "Advancing parity is associated with high milk production at the cost of body condition and increased periparturient disorders in dairy herds" pot

Danh mục: Báo cáo khoa học

... nomlas suoitcefni fo noitubirtsid eussit esruoc emiT A gieT ,BA neslakiM ,K klaF ,E datsmiR 14 131 -721 ,13 ,3002 slacigoloiB lortnoc dna sisongaid rof snoitacilpmi lacitcarp :sepytoib dna sepytoneg ... 01 )DN( 01 cihtapotyc + )712.0 DS( 10ASIBN + )904.0 DS( )814.0 DS( gnitacilpeR 717.52 368.72 305 .13 412-ESHC OT 41 yaD yaD orez yaD epytonehp-ESHC etalosI sllec ni EPC seulav tC naeM RCP-TR emit ... desab-eborp sisylordyh eht revo segatnavda tnatropmi owt evah syassa desab-1 neerG RBYS ehT ]84,23 ,13[ noitareneg langis rof seirtsimehc emit-laer desu ylediw tsom owt eht era eborp sisylordyh eht...

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Báo cáo khoa hoc:"A higher resolution radiation hybrid map of bovine chromosome 13" docx

Danh mục: Báo cáo khoa học

... GHRH ¢ PLC-II PPGB PLTP HCK q11-q12 AHCY cen-q13.1 ASIP q11.2-q12 GHRH q11.2 PLCG1 q12-q13.1 block PPGB q13.1 PLTP q12-q13.1 PCK1 q13.2 GNAS1 13. 2-q13.3 q-arm block Figure Revised blocks of conserved ... chromosome 13, Chromosome Res (1997) 511–519 [19] Schläpfer J., Gallagher D.S Jr., Burzlaff J.D., Womack J.E., Stelly D.M., Taylor J.F., Davis S.K., Comparative mapping of bovine chromosome 13 ... J.F., Cytogenetic alignment of the bovine chromosome 134 genome map by ﬂuorescence in situ hybridization of human chromosome 10 and 20 comparative markers, Chromosome Res (1999) 115–119 [9] Kappes...

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