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Leader |
LDR
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pam i 00 |
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Control # |
1
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2021034141 |
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Control # Id |
3
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DLC |
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Date |
5
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20230329164444.0 |
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Fixed Data |
8
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210712s2022 nyua b 001 0 eng |
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LC Card |
10
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$a 2021034141 |
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ISBN |
20
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$a9780231197663$q(hardback ;$qalk. paper) |
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ISBN |
20
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$z9780231552288$q(ebook) |
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Obsolete |
39
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$a331141$cTLC |
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Cat. Source |
40
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$aDNLM/DLC$beng$erda$cDLC$dGCG |
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Authen. Ctr. |
42
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$apcc |
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LC Call |
50
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00 |
$aRJ506.F73$bS56 2022 |
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NLM Call # |
60
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00 |
$aQS 677 |
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Dewey Class |
82
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00 |
$a618.92/858841$223 |
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ME:Pers Name |
100
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1 |
$aSkomorowsky, Anne,$eauthor. |
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Title |
245
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14 |
$aThe carriers :$bwhat the fragile X gene reveals about family, heredity, and scientific discovery /$cAnne Skomorowsky ; foreword by Randi J. Hagerman, MD. |
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Tag 264 |
264
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1 |
$aNew York :$bColumbia University Press,$c[2022] |
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Phys Descrpt |
300
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$ax, 269 pages :$billustrations ;$c22 cm |
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Tag 336 |
336
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$atext$btxt$2rdacontent |
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Tag 337 |
337
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$aunmediated$bn$2rdamedia |
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Tag 338 |
338
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$avolume$bnc$2rdacarrier |
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Note:Bibliog |
504
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$aIncludes bibliographical references and index. |
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Note:Content |
505
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0 |
$aOne damn thing after another -- Fragile X mutations : an overview -- Village of fools : how carriers brought fragile X to the new world, and what happened next -- A classic zebra : fragile X-associated primary ovarian insufficiency (FXPOI) -- The movement disorder that started a movement : fragile X-associated tremor/ataxia syndrome (FXTAS) -- Once more, with feelings : fragile X-associated neuropsychiatric disorders (FXAND) -- What are fragile eggs? : to test or not to test -- Borderlands of the premutation : gray zones, low-normals, and endophenotypes -- Outcomes. |
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Abstract |
520
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$a"Fragile X syndrome is a genetic condition that causes a range of neurodevelopmental problems including learning disabilities and cognitive impairment. Boys with the condition are more likely to be born fully affected by it, while women who are seemingly unaffected carriers have an increased risk of giving birth to an affected child. Recent research indicates that Fragile X syndrome is highly unusual in the world of genetic disorders, in that carriers, who were previously thought to show no symptoms at all, are in fact affected in their own ways: into adulthood, they can develop personality and emotional changes, tremors, and difficulty walking. The title characters in The Carriers, then, are the previous generations--mothers and grandparents--of fully affected Fragile X patients. This book aims to tell the stories of how families are affected by this genetic disorder over generations, as well as the initial science that discovered it and the current science that's teaching us how Fragile X is affecting silent carriers in ways that weren't previously recognized. Understanding psychiatric symptoms in premutation carriers is complicated by the fact that many are caring for children with Fragile X syndrome and fathers with the tremor/ataxia symptom (difficulty walking). This story particularly highlights women, who are often the carriers in question and also the genetic researchers achieving scientific breakthroughs."--$cProvided by publisher. |
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Subj:Topical |
650
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0 |
$aFragile X syndrome. |
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AE:Pers Name |
700
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1 |
$aHagerman, Randi Jenssen,$d1949-$ewriter of foreword. |
