Molecular Mechanisms of Ataxia Telangiectasia

27. 28. 29. Shiloh Y. Ataxia telangiectasia and the Nijmegen breakage syndrome:
Related disorders but genes apart. Annu Rev Genet 1997; 31:635-662. Lavin MF,
Shiloh Y. The genetic defect in ataxia telangiectasia. Annu Rev Immunol 1997 ...

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Author: Shamim I. Ahmad

Publisher: CRC Press

ISBN: 9781498712712

Category: Science

Page: 132

View: 326

Ataxia telangiectasia (AT) is an incurable, rare autosomal recessive genetic disorder which affects approximately one in 40,000-100,000 and the carrier frequency is estimated to be 1:100-200. In the United Kingdom it affects 1 in 300,000 live births amounting to about 5 or 6 cases per year. Although the medial survival rate of affected persons is b

Ataxia Telangiectasia New Insights for the Healthcare Professional 2012 Edition

protein. Researchers detail in “Heme oxygenase-l and carbon monoxide
modulate DNA repair through ataxia-telangiectasia mutated (ATM) protein,” new
data in Ataxia. “Stability and repair of DNA is of principal importance in cell
survival.

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Author:

Publisher: ScholarlyEditions

ISBN: 9781464973956

Category: Medical

Page: 64

View: 329

Ataxia Telangiectasia: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Ataxia Telangiectasia in a concise format. The editors have built Ataxia Telangiectasia: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Ataxia Telangiectasia in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Ataxia Telangiectasia: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Ataxia Telangiectasia New Insights for the Healthcare Professional 2013 Edition

For more information on this research see: The role of the DNA damage
response kinase ataxia telangiectasia mutated in neuroprotection. The Yale
Journal ofBiology and Medicine, 2012;85(4):469-80. Our news journalists report
that ...

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Author:

Publisher: ScholarlyEditions

ISBN: 9781481657051

Category: Medical

Page: 44

View: 886

Ataxia Telangiectasia: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Genetics in a concise format. The editors have built Ataxia Telangiectasia: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Genetics in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Ataxia Telangiectasia: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Multiple Congenital Anomalies

Extreme insulin resistance in ataxia telangiectasia. New Engl J Med 1978; 298
1164— 1171. Веcker Y, ТaborЕ, Аsher Y. Ataxia-telangiectasia fibroblasts have
less fibronectin mRNA than control cells but have the same levels of integrin and
 ...

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Author: Robin M. Winter

Publisher: Springer

ISBN: 9781489931092

Category: Medical

Page: 1430

View: 713

The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.

Ataxia telangiectasia

Lehman AR : The cellular and molecular response of ataxia - telangiectasia cells
to DNA damage . In Bridges BA , Harnden DG ( eds ) : “ Ataxia - Telangiectasia -
A Cellular and Molecular Link Between Cancer , Neuropathology and Immune ...

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Author:

Publisher:

ISBN: UOM:39015009570741

Category: Ataxia telangiectasia in children

Page: 407

View: 875

The Genetics of Cancer

Morrel D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients
with ataxia telangiectasia. J Natl Cancer Inst. 1986;77:89–92. Taylor AMR. Ataxia
telangiectasia genes and predisposition to leukaemia, lymphoma and breast ...

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Author: B.A. Ponder

Publisher: Springer Science & Business Media

ISBN: 9789401106771

Category: Medical

Page: 221

View: 521

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.

Ataxia Telangiectasia

Pathological observations in ataxia - telangiectasia . A report on 5 cases , J .
Neuropath . Exp . Neurol . 27 , 659 . Ammann , A . J . , Cain , W . A . , Ishizaka , K .
, Hong , R . , and Good , R . A . ( 1969 ) . Immunoglobulin E deficiency in ataxia ...

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Author: B. A. Bridges

Publisher: John Wiley & Sons

ISBN: UOM:39015002414384

Category: Ataxia telangiectasia

Page: 402

View: 586

Ataxia telangiectasia

Molecular Genotyping Shows that Ataxia - Telangiectasia Heterozygotes are
Predisposed to Breast Cancer . Cancer Genet and Cytogenet 92 ( 2 ) 130 - 134 .
Barlow , C . , Hirotsune , S . , Paylor , R . , Liyanage , M . , Eckhaus , M . , Collins ,
F .

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Author: Teresa Yang Liang

Publisher:

ISBN: UCLA:L0078135290

Category:

Page: 272

View: 339

Ataxia telangiectasia

Sandoval C , Swift M . Hodgkin disease in ataxia - telangiectasia patients with
poor outcomes . Med Pediatr Oncol 2003 ; 40 : 162 - 166 . 57 . Hart RM , Kimler
BF , Evans RG , Park CH . Radiotherapeutic management of medulloblastoma in
a ...

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Author: Julianne Marie Pollard

Publisher:

ISBN: UCLA:L0099888562

Category:

Page: 486

View: 569

A Drosophila Model of Ataxia telangiectasia

1 The Genetic Disease Ataxia - telangiectasia Ataxia - telangiectasia ( A - T ) is
an autosomal recessive genetic disease that affects multiple systems in the
human body . Hallmark characteristics of the disease include an ataxic gate , or ...

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Author: Stacey A. Rimkus

Publisher:

ISBN: WISC:89101655298

Category:

Page: 173

View: 867

The Ataxia telangiectasia Gene Product

Athma , P . , Rappaport , R . , and Swift , M . ( 1996 ) Molecular genotyping shows
that Ataxia - telangiectasia heterozygotes are predisposed to breast cancer .
Cancer Genet . Cytogenet . 92 , 130 - 134 . Bay , J . O . , Uhrhammer , N . , Pernin
 ...

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Author: Helen Hyun Kyung Chun

Publisher:

ISBN: UCLA:L0084310317

Category:

Page: 202

View: 223

An Approach to Therapy for Ataxia Telangiectasia

Huo , Y . K . , Wang , Z . , Hong , J . H . , Chessa , L . , McBride , W . H . , Perlman ,
S . L . and Gatti , R . A . Radiosensitivity of ataxia - telangiectasia , X - linked
agammaglobulinemia , and related syndromes using a modified colony survival
ass ...

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Author: Chic-Hung Lai

Publisher:

ISBN: UCLA:L0089505127

Category:

Page: 160

View: 328

Cerebellar Disease An Issue of Neurologic Clinics

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA
triplet repeat expansion. ... Ataxia-telangiectasia: a familial syndrome of
progressive cerebellar ataxia, oculocutaneous telangiectasias and frequent
pulmonary ...

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Author: Alireza Minagar

Publisher: Elsevier Health Sciences

ISBN: 9780323326612

Category: Medical

Page:

View: 109

This issue of the Neurologic Clinics is dedicated to the cerebellum and includes articles on its functional neuroanatomy and different cerebellar pathologies. Among the various reviews contained in this issue, there are two particularly unique articles devoted to the role of the cerebellum in human cognition and psychiatric diseases. Other topics include: the Cerebellum and Sleep; Toxic-Metabolic, Nutritional, and Medicinal-Induced Disorders of Cerebellum; Multiple Sclerosis and the Cerebellum; and Infections of the Cerebellum, among others.

Ferri s Clinical Advisor 2014 E Book

Ataxia Telangiectasia ! PEARLS & CONSIDERATIONS COMMENTS • Most
common cause of hereditary ataxia • Defect in DNA repair • Predisposition to
frequent infections, malignancies, and sensitivity to ionizing radiation PATIENT/
FAMILY ...

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Author: Fred F. Ferri

Publisher: Elsevier Health Sciences

ISBN: 9780323084314

Category: Medical

Page: 1712

View: 867

Ferri's Clinical Advisor is the fastest, most effective way to access current diagnostic and therapeutic information on more than 700 common medical conditions. Dr. Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more. Now featuring expanded online components, it makes the answers you need for your family practice even easier to find - anytime, anywhere. Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets, tables, boxes, and algorithms to expedite reference. Review normal values and interpret results for more than 200 lab tests. Get the insurance billing codes you require, including ICD-9-CM codes, to expedite insurance reimbursements. Improve your family healthcare practice’s efficiency with cost-effective referral and consultation guidelines. Identify and treat a broader range of disorders, including renal and epidural abscess and cardio-renal syndrome, with 23 new topics in the Diseases & Disorders section. Improve your interpretation of presenting symptoms with 39 new topics in the Differential Diagnosis section, and optimize patient care with 12 new tables in the Clinical Practice Guidelines section. Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets, tables, boxes, and algorithms to expedite reference. Get the insurance billing codes you require for your family healthcare practice with ICD-9-CM codes, to expedite insurance reimbursements. Access full-color images and 65 online-only topics at Expert Consult, as well as online-only contents including EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms.

Ferri s Clinical Advisor 2015 E Book

Ataxia Telangiectasia REFERRAL • Immunology • Neurology • Gastroenterology
and nutrition • Physical and occupational therapy • Genetic counselor ! PEARLS
& CONSIDERATIONS COMMENTS • Most common cause of hereditary ataxia ...

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Author: Fred F. Ferri

Publisher: Elsevier Health Sciences

ISBN: 9780323084307

Category: Medical

Page: 3237

View: 496

Ferri’s Clinical Advisor 2015 is the fastest, most effective way to access current diagnostic and therapeutic information on more than 700 common medical conditions. Dr. Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Review normal values and interpret results for more than 200 lab tests. Improve your family healthcare practice’s efficiency with cost-effective referral and consultation guidelines. Identify and treat a broader range of disorders, including diabetic foot infections, hypergonadism, and acute liver failure, with 22 new topics in the Diseases & Disorders section. Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables. Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets, tables, boxes, and algorithms to expedite your search. Expedite insurance reimbursements with current ICD-9 and future ICD-10 insurance billing codes. Access full-color images and more than 90 online-only topics at Expert Consult, as well as EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms.

Principles and Practice of Pediatric Neurosurgery

THE MOLECULAR GENETIC BASIS OF THE NEUROCUTANEOUS
ANGIOMATOSES Ataxia Telangiectasia Ataxia telangiectasia is an autosomal
recessive disorder characterized by cerebellar ataxia , oculocutaneous
telangiectasias ...

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Author: A. Leland Albright

Publisher: Thieme

ISBN: 0865777993

Category: Medical

Page: 1300

View: 981