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         Ataxia Genetics:     more books (24)
  1. Ataxia-telangiectasia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Genevieve, PhD Slomski, 2005
  2. Friedreich ataxia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Toni, MS, CGC Pollin, 2005
  3. Spinocerebellar ataxia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
  4. Ataxia-telangiectasia: Genetics, neuropathology, and immunology of a degenerative disease of childhood : proceedings of a conference held in Solvang, California, ... 16-20, 1984 (The Kroc Foundation series)
  5. The Hereditary Ataxias and Related Disorders (Clinical Neurology and Neurosurgery Monographs, Volume 6) by A. E. Harding, 1984-12
  6. Autosomal dominant spinocerebellar ataxia: A genetic linkage map of genes associated with the disease locus by Patricia Jean Wilkie, 1988
  7. Ataxia-Telangiectasia: Genetics, Neuropathology, & Immunology of the Degenerative Disease of Childhood
  8. Invited Comments.(spinocerebellar ataxia) : An article from: Neurology India
  9. High prevalence of spinocerebellar ataxia type 1 in an ethnic Tamil community in India.(Original Article) : An article from: Neurology India
  10. The Official Parent's Sourcebook on Friedreich's Ataxia: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18
  11. On hereditary ataxia and spastic paraplegia (The treasury of human inheritance) by Julia Bell, 1939
  12. Ataxia-telangiectasia: A practical guide for genetics professionals: (Dissertation) by Jennifer Schmidt, 2005-12-01
  13. Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanism in related Amish sibships by Victor A McKusick, 1966
  14. Ataxia-Telangiectasia (Nato a S I Series Series H, Cell Biology) by Richard A. Gatti, 1993-10

1. Arch Neurol Abstract Molecular Genetics Of Hereditary
. Ataxia. . Neurogenetics. . Topic Collection Alerts Molecular Genetics of Hereditary Spinocerebellar Ataxia
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

2. Friedreich Ataxia - Genetics Home Reference
What if I still have specific questions about Friedreich ataxia? See How can I find a genetics professional in my area? in the Handbook.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Ataxia-telangiectasia - Genetics Home Reference
What if I still have specific questions about ataxiatelangiectasia? See How can I find a genetics professional in my area? in the Handbook.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Friedreich Ataxia Genetics
Friedreich ataxia genetics Articles
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Ataxia Telangiectasia Genetics
Ataxia Telangiectasia genetics Articles
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Predisposing Chromosome For Spinocerebellar Ataxia Type 6 (SCA6)
Related Collections Genetics Neuromuscular disease Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. The GAA Triplet-repeat Sequence In Friedreich Ataxia Shows A High
Human Molecular Genetics, 2002, Vol. 11, No. 18 21752187 2002 Oxford University Press. The GAA triplet-repeat sequence in Friedreich ataxia
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Genetics Cancer - Ataxia Telangiectasia (A-T) Health
of Genetics T) Ataxia Telangiectasia (AT)......Nutrition Cancer Alternative Therapy. Pain Management Health Information
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Amazon Light - Details For Ataxia-Telangiectasia Genetics
Click to see larger image AtaxiaTelangiectasia Genetics, Neuropathology, Immunology of the Degenerative Disease of Childhood by Richard
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. BookkooB Ataxia Telangiectasia Genetics, Neuropathology And
This page lets you compare prices for Ataxia Telangiectasia Genetics, Neuropathology and Immunology of a Degenerative Disease of Childhood by
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Doctor Online - Courses Available On CD
The Expanding Spectrum of ataxia genetics Brain Atrophy Rates Vary in DementiasRecumbency Following Spinal Tap The Oral Triptans, Add Remove
http://www.doctoronline.nhs.uk/masterwebsite/courses/coursesThruWorldPay/II/aspC

12. I998: Sarah ?? (____ - ____)
But it is thought that this had no effect on the ataxia genetics. Sister Betsymarried Peter Johnson and had 4 children, Elva, Pearl,Ethyl, and Monford.
http://www.usgennet.org/family/coy/d0001/g0000065.html
Sarah
Family 1 William CHAMBERS
  • MARRIAGE
  • Sarah (Sally) CHAMBERS Sarah INDEX HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998) on 05/18/99 08:46:10
    Ronald BATHMAKER
    Family 1 Sylvia Angela GINSBURY
    • MARRIAGE : 23 Mar 1967, Croydon, England

    Ronald BATHMAKER
    INDEX Imported GEDCOM file
    HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998) on 05/18/99 08:46:10
    Jonathan (2) BREWSTER
    17 Jul 1629 -
    • BIRTH : 17 Jul 1629, Plymouth, Plymouth, Mass
    Father: Jonathan(1) BREWSTER
    Mother: Lucetria OLDHAM
    Jonathan (2) BREWSTER
    _William OULDHAM _Lucetria OLDHAM ... INDEX Imported GEDCOM file
    HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998) on 05/18/99 08:46:10
    Louisa COY
    30 Jun 1793 -
    • BIRTH : 30 Jun 1793, Hartford, Vt.
    Father: Edward (Edee) COY
    Mother: Flavia GIBSON
    _Silas COY
    Louisa COY INDEX Imported GEDCOM file
    HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998) on 05/18/99 08:46:10
    George W. GLIDDEN
    Father: Jacob GLIDDEN
    Mother: Almira COY
    George W. GLIDDEN
    _Samuel(4) B. COY _Almira COY ... INDEX Imported GEDCOM file HTML created by GED2HTML v3.5e-WIN95-UNREGISTERED (Sep 26 1998)
  • 13. Friedreich Ataxia - Genetics Home Reference
    Friedreich ataxia is a genetic condition that damages nerve tissue, causing aloss of muscle coordination (ataxia) that worsens over time.
    http://ghr.nlm.nih.gov/condition=friedreichataxia
    Home What's New Browse Handbook ... Search Friedreich ataxia
    Friedreich ataxia
    On this page:
    What is Friedreich ataxia?
    Friedreich ataxia is a genetic condition that damages nerve tissue, causing a loss of muscle coordination (ataxia) that worsens over time. Other characteristics of this condition include the gradual loss of strength and sensation in arms and legs, muscle stiffness (spasticity) in the limbs, and impaired speech. Friedreich ataxia may also affect heart function. Typically, signs and symptoms of Friedreich ataxia first appear in childhood or the early teens. Poor balance when walking and slurred speech are often the initial symptoms. About 25 percent of cases, however, occur after age 25. These cases are classified as late-onset Friedreich ataxia (LOFA), with onset between 26 and 39 years, or very late-onset Friedreich ataxia (VLOFA), which begins at age 40 or older.
    How common is Friedreich ataxia?

    14. Molecular Neurogenetics Frankfurt, Georg Auburger
    Research on genetics of polyglutamine neurodegeneration, such as Huntington and spinocerebellar ataxia 2, as well as stroke spasticity and Parkinsons disease at Goethe University Hospital, Frankfurt, Germany.
    http://www.kgu.de/znn/neurologie/mol-neurogenet/
    Section Molecular Neurogenetics,
    Georg Auburger
    Research Professor in Neurology
    Building 26, Room 509, J. W. Goethe - Universität,
    Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany
    Tel: +49-69-6301-7428, FAX: +49-69-6301-7142,
    E-mail: auburger@em.uni-frankfurt.de location-structure
    staff projects collaborators ... mail-to-webmaster

    15. Ataxia-telangiectasia - Genetics Home Reference
    genetics Home Reference your guide to understanding genetic conditions Where can I find additional information about ataxiatelangiectasia?
    http://ghr.nlm.nih.gov/condition=ataxiatelangiectasia
    Home What's New Browse Handbook ... Search Ataxia-telangiectasia
    Ataxia-telangiectasia
    On this page:
    What is ataxia-telangiectasia?
    Ataxia-telangiectasia is a rare inherited disorder of childhood that affects the nervous system and other body systems. This disorder is characterized by difficulty with coordinating movements (ataxia) beginning early in childhood. Children often have difficulty walking, a lack of balance, abnormal eye movements, and slurred speech. Small groups of blood vessels called telangiectases, which look like red "spider" veins, are also characteristic of the condition. Children with ataxia-telangiectasia often have multiple lung infections and are at an increased risk of developing cancer (particularly leukemia and lymphoma). They are also very sensitive to the effects of radiation exposure, including x-rays. People with ataxia-telangiectasia usually live into adulthood, but their life expectancy is reduced.

    16. Ataxia: Dominant
    Dominant Spinocerebellar ataxia (SCA) CAG repeat disorders. ataxias SCA1; SCA2;SCA3; SCA6; genetics Pentanucleotide repeat ATTCT in SCA 10 gene
    http://www.neuro.wustl.edu/neuromuscular/ataxia/domatax.html

    Front
    Search Index Links ... Patient Info
    HEREDITARY ATAXIAS: DOMINANT
    Spinocerebellar Ataxia (SCA)
    : Ataxin-1; CAG repeat; 6p23
    : Ataxin-2; CAG repeat; 12q24
    : Ataxin-3; CAG repeat; 14q32
    : Puratrophin-1; 16q22
    Ca channel; CAG repeat; 19p13
    : Ataxin-7; CAG repeat; 3p14
    : ATTCT repeat; 22q13
    : PRKCG; 19q13.4-qter
    : TBP; CAG repeat; 6q27 SCA Unlinked Ataxia Syndromes SCA: Differential features Episodic ataxias (EA) ... EA 1 with Myokymia : KCNA 1; 12p13 EA 2, Paroxysmal Ca channel; 19p13 EA 3 EA 4 Cajal Other dominant ataxia syndromes Adult-onset leukodystrophy CAPOS syndrome DRPLA : DRPLA protein; CAG repeat Familial dementia Glucose transporter 1 deficiency Holmes ataxia Huntington 2: Junctophilin-3; CAG/CTG repeat Mental retardation Multiple hamartoma syndrome : PTEN; 10q23 Myelocerebellar Neuronal intranuclear inclusion disease Nystagmus Parenchymal degeneration ... Prion disease : Prion protein; 20p12 Sensory-Motor Neuropathy + Ataxia SPAR Spastic ataxia syndromes Tremor, Essential ... Von Hippel-Lindau Syndrome : VHL protein; 3p26 Dominant Spinocerebellar Ataxia (SCA): General
    • Incidence: ~1 to 5 per 100,000

    17. Ataxia: Recessive
    genetics ? Allelic with Fatal infantile leukodystrophy; Onset Childhood; Course ataxia with Laryngeal abductor paralysis Motor neuropathy10
    http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

    Front
    Search Index Links ...
    Ataxia-Oculomotor Apraxia 1
    (AOA1): Aprataxin; 9p13
    Ataxia-Oculomotor Apraxia 2
    (AOA2): Senataxin; 9q34
    Ataxia telangectasia
    : ATM; 11q22
    Ataxia telangectasia-like
    (ATLD): MRE11; 11q21
    Ataxia with neuropathy

    Ataxia with upgaze palsy

    Baltic Myoclonus (Unverricht-Lundborg)
    : Cystatin B; 21q22
    Cardiomyopathy + Ataxia

    Cayman ataxia
    : ATCAY; 19p13 Cerebelloparenchymal disorders (CPD): II III IV V ... Charlevoix-Saguenay - Spastic Ataxia : Sacsin; 13q12 Childhood onset Cockayne Syndrome Coenzyme Q10 deficiency Cytochrome c Oxidase I : Mitochondrial Early onset with retained reflexes (EOCA) Friedreich ataxia : Frataxin (FRDA); 9q13 Friedreich ataxia 2 (FRDA 2): 9p23 Hypogonadism Infantile Onset Spinocerebellar Ataxia : Twinkle; 10q24 Leukoencephalopathies with vanishing white matter Macular dystrophy MIRAS Portneuf spastic ataxia ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Slow eye movements Vitamin E deficiency Xeroderma pigmentosum Metabolic ataxias ... Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis Hartnup ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22

    18. Ataxia
    Image that s a link to genetics Education Center Support Page. ataxia. (hereditaryataxias, Friedreich ataxia, ataxia telangiectasia, essential tremor,
    http://www.kumc.edu/gec/support/ataxia.html
    Ataxia (hereditary ataxias, Friedreich ataxia, ataxia telangiectasia, essential tremor, spastic paraplegia, spinocerebellar ataxia)
    National Ataxia Foundation
    Support Groups 2600 Fernbrook Lane, Suite 119
    Minneapolis, MN 55447
    Phone: 763.553.0020
    Fax: 763.553.0167
    E-mail: naf@ataxia.org Web site: http://www.ataxia.org/
    Ataxia Telangiectasia Children's Project
    668 South Military Trail Deerfield Beach, FL 33442-3023 Phone: 800.543.5728 or 954.481.6611 Fax: 954.725.1153 E-mail: info@atcp.org Web site: www.atcp.org
    Friedreich Ataxia Parents Group (FAPG)
    Web site: http://www.fortnet.org/fapg/
    Also See:

    19. Friedreichs Ataxia, Genetic Futures - Y Touring Theatre Co
    New genetics The Human Genome Project Testing and screening Gene therapy Freidreich s ataxia People and genetics Issues and concerns
    http://www.geneticfutures.com/thegift/info/sheet7.asp
    Genetic Selection TOP STORY: Exclusive! Controversial scientist answers critics Background Information What are genes? Inherited Genetic disorders New genetics The Human Genome Project ... Web Resources
    DOCTOR FISHER:
    way known as autosomal recessive. An autosomal recessive
    disorder is going to be relatively rare as you need both
    parents to be carriers.
    • a 25% chance of being unaffected, a 50% chance of being a carrier without showing symptoms, a 25% chance of having the disease.
    RYAN
    WHAT ARE THE SYMPTOMS?
    Annie practises her ball skills ANNIE: Coping with a progressive disorder often causes feelings of depression, anger, frustration and other emotional symptoms. Annie is nervous ANNIE:
    HOW IS IT DIAGNOSED?
    The Group has its own medical advisory committee to oversee the research it finances and vigorously attempts to stimulate appropriate medical research.
    The Stable
    Wiggins Yard
    Bridge Street
    Godalming GU7 1HW
    Tel: 01483 417111
    Y Touring Theatre company
    an operation of central ymca, registered charity No. 213121

    20. Kprones Ataxia
    Atlas of genetics and Cytogenetics in Oncology and Haematology. New data onclonal anomalies of chromosome 14 in ataxia telangiectasia tct(14;14) and
    http://www.infobiogen.fr/services/chromcancer/Kprones/ataxia.html
    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Home Genes Leukemias Solid Tumours ... NA
    Ataxia telangiectasia
    Identity Note see also, in Deep Insight section: Ataxia-Telangiectasia and variants Other names Louis-Bar syndrome Inheritance autosomal recessive; frequency is about 1 to 2.5/105 newborns; heterozygotes are estimated to be 1% of the general population; founder effect are found in some isolated population Clinics Note ataxia telangiectasia is a chromosome instability syndrome with cerebellar degeneration, immunodeficiency, and an increased risk of cancers; A-T cells are defective in recognizing double-strand DNA damage to signal for repair Phenotype and clinics
  • onset of the disease is often noted during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extension); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia
  • telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva)
  • combined immunodeficiency (in 70 %): thymus hypoplasia, and IgG2 and 4, IgA, IgE deficiency
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