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A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features
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Published in: | American Journal of Medical Genetics Part A 2011, Vol.155A (9), p.2224-2228 |
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Main Authors: | , , , , , |
Format: | Report |
Language: | English |
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container_end_page | 2228 |
container_issue | 9 |
container_start_page | 2224 |
container_title | American Journal of Medical Genetics Part A |
container_volume | 155A |
creator | Cyr, Andrew B. Nimmakayalu, Manjunath Longmuir, Susannah Q. Patil, Shivanand R. Keppler-Noreuil, Kim M. Shchelochkov, Oleg A. |
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doi_str_mv | 10.1002/ajmg.a.34120 |
format | report |
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Genet</addtitle><subject>4p16</subject><subject>aCGH</subject><subject>array comparative genomic hybridization</subject><subject>FGFR3</subject><subject>irregular iris pigmentation-heterochromia</subject><subject>LETM1</subject><subject>macrocephaly</subject><subject>microduplication</subject><subject>TACC3</subject><subject>WHSC1</subject><subject>WHSC2</subject><subject>Wolf-Hirschhorn critical region (WHSCR)</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2011</creationdate><recordtype>report</recordtype><recordid>eNqVjctKAzEUQIMoWB87P-D-QMc85uFWW7UIFqFCl-Gaue2kZpIhk7GO4L8rIu5dnbM4cBi7EDwTnMtL3LXbDDOVC8kP2EQUhZzmV0od_rksjtlJ3-84V7yoygn7vAYf3shB3okyU9BaE0M9dM4aTDZ4qG2f0EEKsF6sZgLQ1z8mwTQY0SSK9oNqeBkhOLsNfjCOQrI1AcaII-xtasDTHrqGfEhjZw1sCNMQqT9jRxt0PZ3_8pRN726fZ4vp95TedRdti3HUGF91Wamq0OvlvZ6vnuTDzeNSz9V_-y9q8Vud</recordid><startdate>201109</startdate><enddate>201109</enddate><creator>Cyr, Andrew B.</creator><creator>Nimmakayalu, Manjunath</creator><creator>Longmuir, Susannah Q.</creator><creator>Patil, Shivanand R.</creator><creator>Keppler-Noreuil, Kim M.</creator><creator>Shchelochkov, Oleg A.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope></search><sort><creationdate>201109</creationdate><title>A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features</title><author>Cyr, Andrew B. ; Nimmakayalu, Manjunath ; Longmuir, Susannah Q. ; Patil, Shivanand R. ; Keppler-Noreuil, Kim M. ; Shchelochkov, Oleg A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-istex_primary_ark_67375_WNG_DSP2JBMN_D3</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2011</creationdate><topic>4p16</topic><topic>aCGH</topic><topic>array comparative genomic hybridization</topic><topic>FGFR3</topic><topic>irregular iris pigmentation-heterochromia</topic><topic>LETM1</topic><topic>macrocephaly</topic><topic>microduplication</topic><topic>TACC3</topic><topic>WHSC1</topic><topic>WHSC2</topic><topic>Wolf-Hirschhorn critical region (WHSCR)</topic><toplevel>online_resources</toplevel><creatorcontrib>Cyr, Andrew B.</creatorcontrib><creatorcontrib>Nimmakayalu, Manjunath</creatorcontrib><creatorcontrib>Longmuir, Susannah Q.</creatorcontrib><creatorcontrib>Patil, Shivanand R.</creatorcontrib><creatorcontrib>Keppler-Noreuil, Kim M.</creatorcontrib><creatorcontrib>Shchelochkov, Oleg A.</creatorcontrib><collection>Istex</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cyr, Andrew B.</au><au>Nimmakayalu, Manjunath</au><au>Longmuir, Susannah Q.</au><au>Patil, Shivanand R.</au><au>Keppler-Noreuil, Kim M.</au><au>Shchelochkov, Oleg A.</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features</atitle><jtitle>American Journal of Medical Genetics Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2011-09</date><risdate>2011</risdate><volume>155A</volume><issue>9</issue><spage>2224</spage><epage>2228</epage><pages>2224-2228</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><doi>10.1002/ajmg.a.34120</doi></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1552-4825 |
ispartof | American Journal of Medical Genetics Part A, 2011, Vol.155A (9), p.2224-2228 |
issn | 1552-4825 1552-4833 |
language | eng |
recordid | cdi_istex_primary_ark_67375_WNG_DSP2JBMN_D |
source | Wiley-Blackwell Read & Publish Collection |
subjects | 4p16 aCGH array comparative genomic hybridization FGFR3 irregular iris pigmentation-heterochromia LETM1 macrocephaly microduplication TACC3 WHSC1 WHSC2 Wolf-Hirschhorn critical region (WHSCR) |
title | A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features |
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