Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family
Identifieur interne : 000222 ( Pmc/Curation ); précédent : 000221; suivant : 000223Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family
Auteurs : Ashwin Dalal [Inde] ; Aneek D. Bhowmik [Inde] ; Divya Agarwal [Inde] ; Shubha R. Phadke [Inde]Source :
- The Indian Journal of Medical Research [ 0971-5916 ] ; 2015.
Url:
DOI: 10.4103/0971-5916.164262
PubMed: 26354221
PubMed Central: 4613445
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000222
Links to Exploration step
PMC:4613445Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family</title>
<author><name sortKey="Dalal, Ashwin" sort="Dalal, Ashwin" uniqKey="Dalal A" first="Ashwin" last="Dalal">Ashwin Dalal</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bhowmik, Aneek D" sort="Bhowmik, Aneek D" uniqKey="Bhowmik A" first="Aneek D" last="Bhowmik">Aneek D. Bhowmik</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Agarwal, Divya" sort="Agarwal, Divya" uniqKey="Agarwal D" first="Divya" last="Agarwal">Divya Agarwal</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Phadke, Shubha R" sort="Phadke, Shubha R" uniqKey="Phadke S" first="Shubha R." last="Phadke">Shubha R. Phadke</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">26354221</idno>
<idno type="pmc">4613445</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613445</idno>
<idno type="RBID">PMC:4613445</idno>
<idno type="doi">10.4103/0971-5916.164262</idno>
<date when="2015">2015</date>
<idno type="wicri:Area/Pmc/Corpus">000222</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000222</idno>
<idno type="wicri:Area/Pmc/Curation">000222</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000222</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family</title>
<author><name sortKey="Dalal, Ashwin" sort="Dalal, Ashwin" uniqKey="Dalal A" first="Ashwin" last="Dalal">Ashwin Dalal</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bhowmik, Aneek D" sort="Bhowmik, Aneek D" uniqKey="Bhowmik A" first="Aneek D" last="Bhowmik">Aneek D. Bhowmik</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Agarwal, Divya" sort="Agarwal, Divya" uniqKey="Agarwal D" first="Divya" last="Agarwal">Divya Agarwal</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Phadke, Shubha R" sort="Phadke, Shubha R" uniqKey="Phadke S" first="Shubha R." last="Phadke">Shubha R. Phadke</name>
<affiliation wicri:level="1"><nlm:aff id="aff2">Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">The Indian Journal of Medical Research</title>
<idno type="ISSN">0971-5916</idno>
<idno type="eISSN">0975-9174</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="White, Dr" uniqKey="White D">DR White</name>
</author>
<author><name sortKey="Ganesh, A" uniqKey="Ganesh A">A Ganesh</name>
</author>
<author><name sortKey="Nishimura, D" uniqKey="Nishimura D">D Nishimura</name>
</author>
<author><name sortKey="Rattenberry, E" uniqKey="Rattenberry E">E Rattenberry</name>
</author>
<author><name sortKey="Ahmed, S" uniqKey="Ahmed S">S Ahmed</name>
</author>
<author><name sortKey="Smith, Um" uniqKey="Smith U">UM Smith</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ng, Sb" uniqKey="Ng S">SB Ng</name>
</author>
<author><name sortKey="Bigham, Aw" uniqKey="Bigham A">AW Bigham</name>
</author>
<author><name sortKey="Buckingham, Kj" uniqKey="Buckingham K">KJ Buckingham</name>
</author>
<author><name sortKey="Hannibal, Mc" uniqKey="Hannibal M">MC Hannibal</name>
</author>
<author><name sortKey="Mcmillin, Mj" uniqKey="Mcmillin M">MJ McMillin</name>
</author>
<author><name sortKey="Gildersleeve, Hi" uniqKey="Gildersleeve H">HI Gildersleeve</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Purcell, S" uniqKey="Purcell S">S Purcell</name>
</author>
<author><name sortKey="Neale, B" uniqKey="Neale B">B Neale</name>
</author>
<author><name sortKey="Todd Brown, K" uniqKey="Todd Brown K">K Todd-Brown</name>
</author>
<author><name sortKey="Thomas, L" uniqKey="Thomas L">L Thomas</name>
</author>
<author><name sortKey="Ferreira, Ma" uniqKey="Ferreira M">MA Ferreira</name>
</author>
<author><name sortKey="Bender, D" uniqKey="Bender D">D Bender</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Orthmann Murphy, Jl" uniqKey="Orthmann Murphy J">JL Orthmann-Murphy</name>
</author>
<author><name sortKey="Salsano, E" uniqKey="Salsano E">E Salsano</name>
</author>
<author><name sortKey="Abrams, Ck" uniqKey="Abrams C">CK Abrams</name>
</author>
<author><name sortKey="Bizzi, A" uniqKey="Bizzi A">A Bizzi</name>
</author>
<author><name sortKey="Uziel, G" uniqKey="Uziel G">G Uziel</name>
</author>
<author><name sortKey="Freidin, Mm" uniqKey="Freidin M">MM Freidin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Osaka, H" uniqKey="Osaka H">H Osaka</name>
</author>
<author><name sortKey="Hamanoue, H" uniqKey="Hamanoue H">H Hamanoue</name>
</author>
<author><name sortKey="Yamamoto, R" uniqKey="Yamamoto R">R Yamamoto</name>
</author>
<author><name sortKey="Nezu, A" uniqKey="Nezu A">A Nezu</name>
</author>
<author><name sortKey="Sasaki, M" uniqKey="Sasaki M">M Sasaki</name>
</author>
<author><name sortKey="Saitsu, H" uniqKey="Saitsu H">H Saitsu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Al Yahyaee, Sa" uniqKey="Al Yahyaee S">SA Al-Yahyaee</name>
</author>
<author><name sortKey="Al Kindi, M" uniqKey="Al Kindi M">M Al-Kindi</name>
</author>
<author><name sortKey="Jonghe, Pd" uniqKey="Jonghe P">PD Jonghe</name>
</author>
<author><name sortKey="Al Asmi, A" uniqKey="Al Asmi A">A Al-Asmi</name>
</author>
<author><name sortKey="Al Futaisi, A" uniqKey="Al Futaisi A">A Al-Futaisi</name>
</author>
<author><name sortKey="Vriendt, Ed" uniqKey="Vriendt E">ED Vriendt</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Uhlenberg, B" uniqKey="Uhlenberg B">B Uhlenberg</name>
</author>
<author><name sortKey="Schuelke, M" uniqKey="Schuelke M">M Schuelke</name>
</author>
<author><name sortKey="Ruschendorf, F" uniqKey="Ruschendorf F">F Ruschendorf</name>
</author>
<author><name sortKey="Ruf, N" uniqKey="Ruf N">N Ruf</name>
</author>
<author><name sortKey="Kaindl, Am" uniqKey="Kaindl A">AM Kaindl</name>
</author>
<author><name sortKey="Henneke, M" uniqKey="Henneke M">M Henneke</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Walsh, T" uniqKey="Walsh T">T Walsh</name>
</author>
<author><name sortKey="Shahin, H" uniqKey="Shahin H">H Shahin</name>
</author>
<author><name sortKey="Elkan Miller, T" uniqKey="Elkan Miller T">T Elkan-Miller</name>
</author>
<author><name sortKey="Lee, Mk" uniqKey="Lee M">MK Lee</name>
</author>
<author><name sortKey="Thornton, Am" uniqKey="Thornton A">AM Thornton</name>
</author>
<author><name sortKey="Roeb, W" uniqKey="Roeb W">W Roeb</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Cullinane, Ar" uniqKey="Cullinane A">AR Cullinane</name>
</author>
<author><name sortKey="Vilboux, T" uniqKey="Vilboux T">T Vilboux</name>
</author>
<author><name sortKey="O Rien, K" uniqKey="O Rien K">K O’Brien</name>
</author>
<author><name sortKey="Curry, Ja" uniqKey="Curry J">JA Curry</name>
</author>
<author><name sortKey="Maynard, Dm" uniqKey="Maynard D">DM Maynard</name>
</author>
<author><name sortKey="Carlson Donohoe, H" uniqKey="Carlson Donohoe H">H Carlson-Donohoe</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<pmc article-type="letter"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Indian J Med Res</journal-id>
<journal-id journal-id-type="iso-abbrev">Indian J. Med. Res</journal-id>
<journal-id journal-id-type="publisher-id">IJMR</journal-id>
<journal-title-group><journal-title>The Indian Journal of Medical Research</journal-title>
</journal-title-group>
<issn pub-type="ppub">0971-5916</issn>
<issn pub-type="epub">0975-9174</issn>
<publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name>
<publisher-loc>India</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">26354221</article-id>
<article-id pub-id-type="pmc">4613445</article-id>
<article-id pub-id-type="publisher-id">IJMR-142-220</article-id>
<article-id pub-id-type="doi">10.4103/0971-5916.164262</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Correspondence</subject>
</subj-group>
</article-categories>
<title-group><article-title>Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Dalal</surname>
<given-names>Ashwin</given-names>
</name>
<xref ref-type="aff" rid="aff1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bhowmik</surname>
<given-names>Aneek D</given-names>
</name>
<xref ref-type="aff" rid="aff1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Agarwal</surname>
<given-names>Divya</given-names>
</name>
<xref ref-type="aff" rid="aff2">**</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Phadke</surname>
<given-names>Shubha R.</given-names>
</name>
<xref ref-type="aff" rid="aff2">**</xref>
<xref ref-type="corresp" rid="cor1">†</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>*</label>
Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, Telangana, India</aff>
<aff id="aff2"><label>**</label>
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India</aff>
<author-notes><corresp id="cor1"><label>†</label>
<italic>For correspondence</italic>
: <email xlink:href="shubharaophadke@gmail.com">shubharaophadke@gmail.com</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>8</month>
<year>2015</year>
</pub-date>
<volume>142</volume>
<issue>2</issue>
<fpage>220</fpage>
<lpage>224</lpage>
<permissions><copyright-statement>Copyright: © Indian Journal of Medical Research</copyright-statement>
<copyright-year>2015</copyright-year>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms</license-p>
</license>
</permissions>
</article-meta>
</front>
</pmc>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000222 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd -nk 000222 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Pmc |étape= Curation |type= RBID |clé= PMC:4613445 |texte= Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Curation/RBID.i -Sk "pubmed:26354221" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |