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Fragile X syndrome

Index Fragile X syndrome

Fragile X syndrome (FXS) is a genetic disorder. [1]

175 relations: Acamprosate, Acetylcarnitine, Activity-regulated cytoskeleton-associated protein, Alcobra, Allele, Amniocentesis, Animal model of autism, Anticipation (genetics), Aspartylglucosaminuria, Autism, Autism spectrum, Bantam microRNA, Basimglurant, BK channel, Brian Doerksen, Carrier testing, Causes of autism, Causes of seizures, Cerebellar cognitive affective syndrome, Cerebral cortex, Cerebral palsy, Cherubism, Chris Benoit double-murder and suicide, Chromosomal fragile site, Cognitive genomics, Conditions comorbid to autism spectrum disorders, Cytogenetic notation, Dendritic spine, Developmental disability, Developmental verbal dyspraxia, Diagnosis of Asperger syndrome, Directed differentiation, Dynamic mutation, Educational therapy, Embryonic stem cell, Emory University, Endeavour Foundation, Epigenetics of autism, Fast mapping, Fenobam, FMR1, FMR1-AS1 gene, Fragile X-associated tremor/ataxia syndrome, Frax, Frontal lobe epilepsy, FXS, G-quadruplex, Gaboxadol, Ganaxolone, Garvald Centres, ..., Genetic heterogeneity, Genetic studies on Arabs, Genetic testing, Genetically modified sperm, Gerald Fischbach, Global developmental delay, Green ribbon, Gregg Harper, Hearing and Speech Agency of Baltimore, Heritability of autism, Human genetics, Humber Bridge, Hunterdon Developmental Center, Hypotelorism, Hypotonia, ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities, Imprinted brain theory, Index of genetics articles, Index of molecular biology articles, Index of psychology articles, Intellectual disability, Intellectual disability sport classification, Intention tremor, Isodicentric 15, Jeanne Loring, Jeannie T. Lee, Jeremy Levin, Jim Cantore, Jocelyn Faubert, Julia Bell, Kenneth Breslauer, Klinefelter syndrome, Lars Ulrich, List of abbreviations for diseases and disorders, List of antineoplastic agents, List of diseases (F), List of diseases (X), List of DIY SOS episodes, List of geneticists, List of ICD-9 codes 740–759: congenital anomalies, List of MeSH codes (C10), List of MeSH codes (C16), List of MeSH codes (D12.776), List of MeSH codes (D12.776.157), List of MeSH codes (D12.776.641), List of neurological conditions and disorders, List of OMIM disorder codes, List of syndromes, Low-set ears, Lujan–Fryns syndrome, Macrocephaly, Macroorchidism, Martin Bell (disambiguation), Mary Jane Clark, Mavoglurant, Medical genetics, Menopause, Mental disorders diagnosed in childhood, Metabotropic glutamate receptor, Metadoxine, Methyltransferase, Microchromosome, MicroRNA, Microsatellite, MIND Institute, Murder of Bobby Äikiä, Nagwa Abdel Meguid, Nasal bridge, Neurodevelopmental disorder, Neurogenetics, Neurogenomics, Neuroimmunology, Nicola Cuomo, Non-Mendelian inheritance, Orchidometer, Outline of autism, Overgrowth syndrome, Oxidative stress, Pacific Biosciences, Palilalia, Patricia Howlin, Paul Ashwood, PotCoin, Preimplantation genetic diagnosis, Premature ovarian failure, Prenatal sex discernment, Prenatal testing, Protein tyrosine phosphatase, Protocadherin, PTPN5, Randi J. Hagerman, Rapid prompting method, Reading for special needs, Renpenning's syndrome, Rett syndrome, Richard Lounsbery Award, Robert B. Darnell, Rolandic epilepsy, Samuel Weiss, Scoliosis, Scott S. Hall, Sensory processing disorder, Sergei Mirkin, Sex chromosome, Sex differences in human physiology, Sex linkage, SHALVA, Sherman paradox, Skull bossing, Social cognition, Synaptopathy, Tic, Tourette syndrome, Tourettism, Trinucleotide repeat disorder, Trofinetide, TSPAN7, University of Pennsylvania, Valproate, William T. Greenough, Wilson–Turner syndrome, Wim Crusio, X-linked dominant inheritance, Ying-Hui Fu, 7,8-Dihydroxyflavone. Expand index (125 more) »

Acamprosate

Acamprosate, sold under the brand name Campral, is a medication used along with counselling to treat alcohol dependence.

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Acetylcarnitine

Acetyl-L-carnitine, ALCAR or ALC, is an acetylated form of L-carnitine.

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Activity-regulated cytoskeleton-associated protein

Activity-regulated cytoskeleton-associated protein is a plasticity protein that in humans is encoded by the ARC gene.

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Alcobra

Alcobra Ltd. is a public, specialty pharmaceutical company.

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Allele

An allele is a variant form of a given gene.

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Amniocentesis

Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus, and then the fetal DNA is examined for genetic abnormalities.

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Animal model of autism

The development of an animal model of autism is one approach researchers use to study potential causes of autism.

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Anticipation (genetics)

In genetics, anticipation is a phenomenon whereby as a genetic disorder is passed on to the next generation, the symptoms of the genetic disorder become apparent at an earlier age with each generation.

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Aspartylglucosaminuria

Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues.

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Autism

Autism is a developmental disorder characterized by troubles with social interaction and communication and by restricted and repetitive behavior.

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Autism spectrum

Autism spectrum, also known as autism spectrum disorder (ASD), is a range of conditions classified as neurodevelopmental disorders.

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Bantam microRNA

In molecular biology bantam microRNA is a short RNA molecule.

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Basimglurant

Basimglurant (INN) (developmental code names RG-7090, RO-4917523) is a negative allosteric modulator of the mGlu5 receptor which is under development by Roche and Chugai Pharmaceutical for the treatment of treatment-resistant depression (as an adjunct) and fragile X syndrome.

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BK channel

BK channels (Big Potassium), also known as Maxi-K, slo1, or Kcal.1, are voltage-gated potassium channels that conduct large amounts of potassium ions (K+) across the cell membrane, hence their name, Big Potassium.

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Brian Doerksen

Brian Robert Doerksen (pronounced "durkson") is a Canadian Christian singer-songwriter and worship leader.

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Carrier testing

Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for a specific autosomal recessive diseases.

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Causes of autism

Many causes of autism have been proposed, but understanding of the theory of causation of autism and the other autism spectrum disorders (ASD) is incomplete.

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Causes of seizures

There are many causes of seizures.

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Cerebellar cognitive affective syndrome

Cerebellar cognitive affective syndrome (CCAS), also called "Schmahmann's syndrome" is a condition that follows from lesions (damage) to the cerebellum of the brain.

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Cerebral cortex

The cerebral cortex is the largest region of the cerebrum in the mammalian brain and plays a key role in memory, attention, perception, cognition, awareness, thought, language, and consciousness.

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Cerebral palsy

Cerebral palsy (CP) is a group of permanent movement disorders that appear in early childhood.

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Cherubism

Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face.

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Chris Benoit double-murder and suicide

Over a three-day period between June 22 and June 24, 2007, Chris Benoit, a 40-year-old veteran professional wrestler employed by World Wrestling Entertainment (WWE), killed his wife Nancy Benoit and strangled their 7-year-old son Daniel before hanging himself.

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Chromosomal fragile site

A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress.

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Cognitive genomics

Cognitive genomics (or neurative genomics) is the sub-field of genomics pertaining to cognitive function in which the genes and non-coding sequences of an organism's genome related to the health and activity of the brain are studied.

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Conditions comorbid to autism spectrum disorders

Autism spectrum disorders (ASD), including Asperger syndrome, are developmental disorders that begin in early childhood, persist throughout adulthood, and affect three crucial areas of development: communication, social interaction and restricted patterns of behavior.

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Cytogenetic notation

The following table summarizes symbols and abbreviations used in cytogenetics.

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Dendritic spine

A dendritic spine (or spine) is a small membranous protrusion from a neuron's dendrite that typically receives input from a single axon at the synapse.

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Developmental disability

Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood.

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Developmental verbal dyspraxia

Developmental verbal dyspraxia (DVD), also known as childhood apraxia of speech (CAS) and developmental apraxia of speech (DAS), is when children have problems saying sounds, syllables, and words.

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Diagnosis of Asperger syndrome

Several factors complicate the diagnosis of Asperger syndrome (AS), an autism spectrum disorder (ASD).

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Directed differentiation

Directed differentiation is a bioengineering methodology at the interface of stem cell biology, developmental biology and tissue engineering.

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Dynamic mutation

In genetics, a dynamic mutation is an unstable heritable element where the probability of expression of a mutant phenotype is a function of the number of copies of the mutation.

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Educational therapy

Educational Therapy is a form of therapy used to treat individuals with learning differences, disabilities, and challenges.

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Embryonic stem cell

Embryonic stem cells (ES cells or ESCs) are pluripotent stem cells derived from the inner cell mass of a blastocyst, an early-stage pre-implantation embryo.

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Emory University

Emory University is a private research university in the Druid Hills neighborhood of the city of Atlanta, Georgia, United States.

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Endeavour Foundation

Endeavour Foundation is a not-for-profit charity headquartered in Brisbane, Queensland, Australia.

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Epigenetics of autism

Autism spectrum disorder (ASD) includes autism, Asperger disorder, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified.

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Fast mapping

In cognitive psychology, fast mapping is the term used for the hypothesized mental process whereby a new concept is learned (or a new hypothesis formed) based only on a single exposure to a given unit of information.

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Fenobam

Fenobam is an imidazole derivative developed by McNeil Laboratories in the late 1970s as a novel anxiolytic drug with an at-the-time-unidentified molecular target in the brain.

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FMR1

FMR1 (fragile X mental retardation 1) is a human gene that codes for a protein called fragile X mental retardation protein, or FMRP.

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FMR1-AS1 gene

In molecular biology, FMR1 antisense RNA 1 (FMR1-AS1), also known as ASFMR1 or FMR4, is a long non-coding RNA.

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Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with male premutation carriers of Fragile X syndrome (FXS) over the age of 50.

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Frax

Frax or FraX or FRAX may refer to.

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Frontal lobe epilepsy

Frontal lobe epilepsy, or FLE, is a neurological disorder that is characterized by brief, recurring seizures that arise in the frontal lobes of the brain, often while the patient is sleeping.

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FXS

FXS may refer to.

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G-quadruplex

In molecular biology, G-quadruplex secondary structures are formed in nucleic acids by sequences that are rich in guanine.

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Gaboxadol

Gaboxadol, also known as 4,5,6,7-tetrahydroisoxazolo(5,4-c)pyridin-3-ol (THIP), is a conformationally constrained derivative of the alkaloid muscimol that was first synthesized in 1977 by the Danish chemist Povl Krogsgaard-Larsen.

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Ganaxolone

Ganaxolone is an experimental CNS-selective GABAA modulator that is under development by Marinus Pharmaceuticals as an anxiolytic and anticonvulsant agent.

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Garvald Centres

The Garvald Centres are a group of six affiliated but independent Scottish charities offering creative opportunities and support for people with Special Needs and learning disabilities and who base their work on the ideas of the educator and philosopher, Rudolf Steiner.

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Genetic heterogeneity

Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms.

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Genetic studies on Arabs

The Centre for Arab Genomic Studies (CAGS) oversees genetic analyses on the populations of the Arab world.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Genetically modified sperm

Genetically modified sperm (GM sperm) is sperm that has undergone genetic modification for biomedical purposes, including the elimination of genetic diseases or infertility.

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Gerald Fischbach

Gerald D. Fischbach (born November 15, 1938) is an American neuroscientist.

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Global developmental delay

Global developmental delay is an umbrella term used when children are significantly delayed in their cognitive and physical development.

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Green ribbon

The green ribbon is a ribbon in the color of green.

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Gregg Harper

Gregory Livingston Harper (born June 1, 1956) is an American politician who has been the U.S. Representative for since 2009.

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Hearing and Speech Agency of Baltimore

The Hearing and Speech Agency of Metropolitan Baltimore (referred to as HASA) is a non-profit 501(c)(3) organization located in Baltimore, Maryland that specializes in facilitating communication.

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Heritability of autism

The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic.

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Human genetics

Human genetics is the study of inheritance as it occurs in human beings.

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Humber Bridge

The Humber Bridge, near Kingston upon Hull, England, is a single-span suspension bridge, which opened to traffic on 24 June 1981.

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Hunterdon Developmental Center

Hunterdon Developmental Center is a developmental center in Union Township, Hunterdon County, near Clinton.

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Hypotelorism

Hypotelorism is a medical condition in which there is an abnormally decreased distance between two organs or bodily parts, usually pertaining to the eyes (orbits), also known as orbital hypotelorism.

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Hypotonia

Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.

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ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

ICD-10 is an international statistical classification used in health care and related industries.

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Imprinted brain theory

The imprinted brain theory is an evolutionary psychology theory regarding the causes of autism spectrum disorders and psychosis.

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Index of genetics articles

Genetics (from Ancient Greek γενετικός genetikos, “genite” and that from γένεσις genesis, “origin”), a discipline of biology, is the science of heredity and variation in living organisms.

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Index of molecular biology articles

This is a list of topics in molecular biology.

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Index of psychology articles

Psychology (from ψυχή psykhē "breath, spirit, soul"; and -λογία, -logia "study of") is an academic and applied discipline involving the scientific study of human mental functions and behavior.

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Intellectual disability

Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.

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Intellectual disability sport classification

Intellectual disability sport classification is a classification system used for disability sport that allows people with intellectual disabilities to fairly compete with and against other people with intellectual disabilities.

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Intention tremor

Intention tremor, also known as cerebellar tremor, is a dyskinetic disorder characterized by a broad, coarse, and low frequency (below 5 Hz) tremor.

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Isodicentric 15

Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15), is a chromosome abnormality in which a child is born with extra genetic material from chromosome 15.

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Jeanne Loring

Jeanne Frances Loring (born May 4, 1950) is an American stem cell biologist, developmental neurobiologist, and geneticist.

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Jeannie T. Lee

Jeannie T. Lee is a Professor of Genetics and Pathology at Harvard Medical School and the Massachusetts General Hospital, and an Investigator of the Howard Hughes Medical Institute.

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Jeremy Levin

Jeremy Levin (born 1954) is a South African-born businessman, medical doctor and research scientist.

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Jim Cantore

James "Jim" D. Cantore (born February 16, 1964) is an American meteorologist.

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Jocelyn Faubert

Prof.

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Julia Bell

Julia Bell (28 January 1879 – 26 April 1979) was a pioneering English human geneticist.

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Kenneth Breslauer

Kenneth Breslauer is the Linus C. Pauling professor of Chemistry and Chemical Biology at Rutgers University.

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Klinefelter syndrome

Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males.

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Lars Ulrich

Lars Ulrich (born December 26, 1963) is a Danish musician, songwriter, actor, and record producer.

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List of abbreviations for diseases and disorders

This is a list of acronyms and initials related to diseases (infectious or non-infectious) and medical disorders.

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List of antineoplastic agents

This is a list of antineoplastic agents used to treat cancer.

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List of diseases (F)

This is a list of diseases starting with the letter "F".

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List of diseases (X)

This is a list of diseases starting with the letter "X".

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List of DIY SOS episodes

This is a list of episodes of the BBC One show DIY SOS.

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List of geneticists

This is a list of people who have made notable contributions to genetics.

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List of ICD-9 codes 740–759: congenital anomalies

14.

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List of MeSH codes (C10)

The following is a list of the "C" codes for MeSH.

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List of MeSH codes (C16)

The following is a list of the "C" codes for MeSH.

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List of MeSH codes (D12.776)

This is part of the list of the "D" codes for MeSH.

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List of MeSH codes (D12.776.157)

This is a sub-part (carrier proteins only) of List of MeSH codes (D12.776), itself a part of the list of the "D" codes for MeSH.

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List of MeSH codes (D12.776.641)

This is a sub-part (nerve tissue proteins only) of List of MeSH codes (D12.776), itself a part of the list of the "D" codes for MeSH.

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List of neurological conditions and disorders

This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome).

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List of OMIM disorder codes

This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database.

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List of syndromes

This is an alphabetically-sorted list of medical syndromes.

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Low-set ears

Low-set ears are ears with depressed positioning of the pinnae two or more standard deviations below the population average.

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Lujan–Fryns syndrome

Lujan–Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and Lujan syndrome, is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome.

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Macrocephaly

Macrocephaly is a condition in which the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.

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Macroorchidism

Macroorchidism is a disorder found in males where a subject has abnormally large testes.

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Martin Bell (disambiguation)

Martin Bell (born 1938) is a British former broadcast war reporter and former independent politician.

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Mary Jane Clark

Mary Jane Clark (born 1954; Mary Jane Elizabeth Behrends) is an American author of two series of suspense novels.

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Mavoglurant

Mavoglurant (developmental code name AFQ-056) is an experimental drug candidate for the treatment of fragile X syndrome and other conditions which has been discontinued.

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Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

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Menopause

Menopause, also known as the climacteric, is the time in most women's lives when menstrual periods stop permanently, and they are no longer able to bear children.

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Mental disorders diagnosed in childhood

Mental disorders diagnosed in childhood are divided into two categories: childhood disorders and learning disorders.

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Metabotropic glutamate receptor

The metabotropic glutamate receptors, or mGluRs, are a type of glutamate receptor that are active through an indirect metabotropic process.

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Metadoxine

Metadoxine, also known as pyridoxine-pyrrolidone carboxylate, is a drug used to treat chronic and acute alcohol intoxication.

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Methyltransferase

Methyltransferases are a large group of enzymes that all methylate their substrates but can be split into several subclasses based on their structural features.

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Microchromosome

A microchromosome is a type of very small chromosome which is a typical component of the karyotype of birds, some reptiles, fish, and amphibians; they tend to be absent in mammals.

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MicroRNA

A microRNA (abbreviated miRNA) is a small non-coding RNA molecule (containing about 22 nucleotides) found in plants, animals and some viruses, that functions in RNA silencing and post-transcriptional regulation of gene expression.

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Microsatellite

A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 1–6 or more base pairs) are repeated, typically 5–50 times.

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MIND Institute

The UC Davis MIND Institute (Medical Investigation of Neurodevelopmental Disorders) research and treatment center affiliated with the University of California, Davis, with facilities located on the UC Davis Medical Center campus in Sacramento, California.

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Murder of Bobby Äikiä

The murder of Bobby Äikiä (12 March 1995 – 14 January 2006) occurred in Sweden, when Äikiä, a 10-year-old Swedish boy, was murdered by his mother and stepfather.

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Nagwa Abdel Meguid

Nagwa Abdel Meguid is an Egyptian geneticist and 2012 winner of the L’Oreal UNESCO Award for Women in Science for Africa and the Middle East.

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Nasal bridge

The nasal bridge is the upper, bony part of the human nose, which overlies the nasal bones.

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Neurodevelopmental disorder

Neurodevelopmental disorder is a mental disorder.

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Neurogenetics

Neurogenetics studies the role of genetics in the development and function of the nervous system.

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Neurogenomics

Neurogenomics is the study of how the genome of an organism influences the development and function of its nervous system.

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Neuroimmunology

Neuroimmunology is a field combining neuroscience, the study of the nervous system, and immunology, the study of the immune system.

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Nicola Cuomo

Nicola Cuomo (Andria (BA), 1946- 2016) was an Italian educator and Professor of Special Education Inclusion at the University of Bologna.

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Non-Mendelian inheritance

Non-Mendelian inheritance is a general term that refers to any pattern of inheritance in which traits do not segregate in accordance with Mendel's laws.

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Orchidometer

An orchidometer (or orchiometer) is a medical instrument used to measure the volume of the testicles.

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Outline of autism

The following outline is provided as an overview of and topical guide to autism: Autism – disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior.

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Overgrowth syndrome

Overgrowth syndromes in children constitute a group of rare disorders that are typical of tissue hypertrophy.

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Oxidative stress

Oxidative stress reflects an imbalance between the systemic manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to repair the resulting damage.

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Pacific Biosciences

Pacific Biosciences of California, Inc. is a biotechnology company founded in 2004 that develops and manufactures systems for gene sequencing and some novel real time biological observation.

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Palilalia

Palilalia (from the Greek πάλιν (pálin) meaning "again" and λαλιά (laliá) meaning "speech" or "to talk"), a complex tic, is a language disorder characterized by the involuntary repetition of syllables, words, or phrases.

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Patricia Howlin

Patricia Howlin is Professor of Clinical Child Psychology at the Institute of Psychiatry, London, whose principal research interests focus on autism and developmental disorders including Williams syndrome, developmental language disorders and Fragile X. Howlin is a Fellow of the British Psychological Society, who has served as Chair of the UK Association of Child Psychology and Psychiatry and the Society for the Study of Behavioural Phenotypes She is a founding editor of the journal Autism.

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Paul Ashwood

Paul Ashwood is an associate professor of immunology at the MIND Institute at the University of California Davis.

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PotCoin

PotCoin (code: POT) is a peer-to-peer cryptocurrency which exists with the aim of becoming the standard form of payment for the legalized cannabis industry.

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Preimplantation genetic diagnosis

Pre-implantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization.

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Premature ovarian failure

Premature ovarian failure (POF) is the loss of function of the ovaries before age 40.

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Prenatal sex discernment

Prenatal sex discernment is the prenatal testing for discerning the sex of a fetus before birth.

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Prenatal testing

Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.

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Protein tyrosine phosphatase

Protein tyrosine phosphatases are a group of enzymes that remove phosphate groups from phosphorylated tyrosine residues on proteins.

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Protocadherin

Protocadherins (Pcdhs) are the largest mammalian subgroup of the cadherin superfamily of homophilic cell-adhesion proteins.

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PTPN5

Protein tyrosine phosphatase non-receptor type 5 is an enzyme that in humans is encoded by the PTPN5 gene.

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Randi J. Hagerman

Randi J. Hagerman, M.D. is the medical director of MIND Institute at the University of California, Davis.

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Rapid prompting method

The rapid prompting method (RPM) is a prompting technique used by some parents and educators in an attempt to help their (often non-speaking) child or student with autism or other disabilities to communicate through pointing, typing or writing.

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Reading for special needs

Reading for special needs has become an area of interest as the understanding of reading has improved.

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Renpenning's syndrome

Renpenning's syndrome is a neurodevelopmental disorder recognised in males that causes intellectual disability, mild growth retardation with examples in the testes and head, and a somewhat short stature.

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Rett syndrome

Rett syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females.

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Richard Lounsbery Award

The Richard Lounsbery Award is given to American and French scientists, 45 years or younger, in recognition of "extraordinary scientific achievement in biology and medicine." The Award alternates between French and American scientists, and is awarded by the National Academy of Sciences and the French Academy of Sciences in alternating years to a scientist from the other country.

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Robert B. Darnell

Robert Darnell is an American neurooncologist and neuroscientist, a founding director and former CEO of the New York Genome Center, the Robert and Harriet Heilbrunn Professor of Cancer Biology at The Rockefeller University, and an investigator of the Howard Hughes Medical Institute.

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Rolandic epilepsy

Benign Rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common epilepsy syndrome in childhood.

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Samuel Weiss

Samuel Weiss is a neurobiologist.

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Scoliosis

Scoliosis is a medical condition in which a person's spine has a sideways curve.

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Scott S. Hall

Scott S. Hall a psychology and behavioral science professor and researcher at Stanford University's School of Medicine, specializing in Fragile X syndrome, Prader-Willi syndrome, and in research on the relationship of Fragile X syndrome to other conditions, including Autism Spectrum Disorders.

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Sensory processing disorder

Sensory processing disorder (SPD; also known as '''sensory integration dysfunction''') is a condition that exists when multisensory integration is not adequately processed in order to provide appropriate responses to the demands of the environment. The senses provide information from various modalities—vision, audition, tactile, olfactory, taste, proprioception, interoception and vestibular system—that humans need to function. Sensory processing disorder is characterized by significant problems in organizing sensation coming from the body and the environment and is manifested by difficulties in the performance in one or more of the main areas of life: productivity, leisure and play or activities of daily living. Different people experience a wide range of difficulties when processing input coming from a variety of senses, particularly tactile (e.g., finding fabrics itchy and hard to wear while others do not), vestibular (e.g., experiencing motion sickness while riding a car) and proprioceptive (having difficulty grading the force to hold a pen in order to write). Sensory integration was defined by occupational therapist Anna Jean Ayres in 1972 as "the neurological process that organizes sensation from one's own body and from the environment and makes it possible to use the body effectively within the environment". Sensory processing disorder is gaining recognition, although it is still not recognized by the Diagnostic and Statistical Manual. Despite its proponents, it is still debated as to whether SPD is actually an independent disorder or the observed symptoms of various other, more well-established, disorders.

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Sergei Mirkin

Sergei Mirkin is a Russian-American molecular biologist.

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Sex chromosome

An allosome (also referred to as a sex chromosome, heterotypical chromosome, heterochromosome, or idiochromosome) is a chromosome that differs from an ordinary autosome in form, size, and behavior.

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Sex differences in human physiology

Sex differences in human physiology are distinctions of physiological characteristics associated with either male or female humans.

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Sex linkage

Sex linkage is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual.

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SHALVA

SHALVA (The Israel Association for Care and Inclusion of Persons with Disabilities) (Hebrew: שַׁלְוָה) is a registered non-profit organization that supports individuals with special needs in Israel.

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Sherman paradox

The Sherman Paradox refers to an anomalous pattern of inheritance found in Fragile X syndrome.

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Skull bossing

Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead ("frontal bossing").

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Social cognition

Social cognition is "a sub-topic of social psychology that focuses on how people process, store, and apply information about other people and social situations.

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Synaptopathy

A synaptopathy is a disease of the brain, spinal cord or peripheral nervous system relating to the dysfunction of synapses.

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Tic

A tic is a sudden, repetitive, nonrhythmic motor movement or vocalization involving discrete muscle groups.

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Tourette syndrome

Tourette syndrome (TS or simply Tourette's) is a common neuropsychiatric disorder with onset in childhood, characterized by multiple motor tics and at least one vocal (phonic) tic.

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Tourettism

Tourettism refers to the presence of Tourette-like symptoms in the absence of Tourette syndrome, as the result of other diseases or conditions, known as "secondary causes".

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Trinucleotide repeat disorder

Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide repeats in certain genes or intronsDavid W. Sanders & Clifford P. Brangwynne (2017), Nature, 546, 215–216 (08 June 2017) exceed the normal, stable threshold, which differs per gene.

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Trofinetide

Trofinetide (NNZ-2566) is a drug developed by Neuren Pharmaceuticals that acts as an analogue of the neuropeptide (1-3) IGF-1, which is a simple tripeptide with sequence Gly-Pro-Glu formed by enzymatic cleavage of the growth factor IGF-1 within the brain.

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TSPAN7

Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene.

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University of Pennsylvania

The University of Pennsylvania (commonly known as Penn or UPenn) is a private Ivy League research university located in University City section of West Philadelphia.

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Valproate

Valproate (VPA), and its valproic acid, sodium valproate, and valproate semisodium forms, are medications primarily used to treat epilepsy and bipolar disorder and to prevent migraine headaches.

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William T. Greenough

William Tallant Greenough (October 11, 1944 – December 18, 2013) was a professor of psychology at the University of Illinois at Urbana–Champaign.

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Wilson–Turner syndrome

Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity.

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Wim Crusio

Wim E. Crusio (born Wilhelmus Elisabeth Crusio on December 20, 1954 in Bergen op Zoom, The Netherlands) is a Dutch behavioral neurogeneticist and a directeur de recherche (research director) with the French National Centre for Scientific Research in Talence, France.

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X-linked dominant inheritance

X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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Ying-Hui Fu

Ying-Hui Fu (傅嫈惠) is a biologist and human geneticist.

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7,8-Dihydroxyflavone

7,8-Dihydroxyflavone (7,8-DHF) is a naturally occurring flavone found in Godmania aesculifolia, Tridax procumbens, and primula tree leaves.

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Redirects here:

Escalante syndrome, Escalante's syndrome, FRAXA syndrome, Fra(X) syndrome, Fragile X, Fragile X Associated Primary Ovarian Insufficiency (FXPOI), Fragile X Syndrome, Fragile X syndrome type 1, Fragile X syndrome type 2, Fragile X syndrome type 3, Fragile X-associated primary ovarian insufficiency, Fragile x chromosome, Fragile x mental retardation protein, Fragile x syndrome, Fragile-X, Fragile-X Syndrome, Fragile-X syndrome, Fragilex, Marker X syndrome, Martin-Bell, Martin-Bell syndrome, Martin-Bell-Renpenning syndrome, Martin–Bell syndrome, X-linked mental retardation and macroorchidism.

References

[1] https://en.wikipedia.org/wiki/Fragile_X_syndrome

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