SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2005-08, Vol.136A (4), p.345-345
Main Authors: EI-Jaick, Kenia Balbi, Brunoni, Decio, Castilla, Eduardo E., Moreira, Miguel Angelo, Orioli, Iêda Mario
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Choanal Atresia - pathology
Family Health
Female
Growth Disorders - pathology
Hedgehog Proteins
Holoprosencephaly - genetics
Holoprosencephaly - pathology
Humans
Incisor - abnormalities
Infant, Newborn
Maxilla
Mothers
Mutation, Missense
Obesity - pathology
Trans-Activators - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by cdi_FETCH-LOGICAL-c3714-84cf3730425a2286be1298c5b332687c884de6920476464474710ef0c9a0de2f3
cites cdi_FETCH-LOGICAL-c3714-84cf3730425a2286be1298c5b332687c884de6920476464474710ef0c9a0de2f3
container_end_page 345
container_issue 4
container_start_page 345
container_title American journal of medical genetics. Part A
container_volume 136A
creator EI-Jaick, Kenia Balbi
Brunoni, Decio
Castilla, Eduardo E.
Moreira, Miguel Angelo
Orioli, Iêda Mario
description
doi_str_mv 10.1002/ajmg.a.30624
format article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_20913216</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>20913216</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3714-84cf3730425a2286be1298c5b332687c884de6920476464474710ef0c9a0de2f3</originalsourceid><addsrcrecordid>eNp9kDtv2zAUhYkiReOm3ToHnDpZLt8UR8NI7BhKMrRFR4KmqZoOJaqiDcf_PvSjyZaJxD3fPTj3APANoxFGiPww6-bvyIwoEoR9AAPMOSlYSenF65_wS_A5pTVCFHEpPoFLzBUjipMBSD9nM3gXHMZ4nDroW2hCXJgermKIXR-Ta63rVibsjxrMoy4mvzFDuFtlFTZxs3IZN0sY20wZmGLIer-HjVt608LGPPsQDgPfWp9i_wV8rE1I7uv5vQK_b29-TWZF9Ti9m4yrwlKJWVEyW1NJESPcEFKKhcNElZYvKCWilLYs2dIJRRCTggnGJJMYuRpZZdDSkZpege8n3xz639aljW58si5naV3cJk2QwpRgkcHhCbT54NS7Wne9b3JijZE-lKwPJWujjyVn_Prsu13kG9_gc6sZoCdg54Pbv2umx_P76X_b4rTl08Y9v26Z_kkLSSXXfx6mWslKVWpe6Ql9ATW1ltc</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>20913216</pqid></control><display><type>article</type><title>SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor</title><source>Wiley-Blackwell Read &amp; Publish Collection</source><creator>EI-Jaick, Kenia Balbi ; Brunoni, Decio ; Castilla, Eduardo E. ; Moreira, Miguel Angelo ; Orioli, Iêda Mario</creator><creatorcontrib>EI-Jaick, Kenia Balbi ; Brunoni, Decio ; Castilla, Eduardo E. ; Moreira, Miguel Angelo ; Orioli, Iêda Mario</creatorcontrib><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.30624</identifier><identifier>PMID: 15942952</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Choanal Atresia - pathology ; Family Health ; Female ; Growth Disorders - pathology ; Hedgehog Proteins ; Holoprosencephaly - genetics ; Holoprosencephaly - pathology ; Humans ; Incisor - abnormalities ; Infant, Newborn ; Maxilla ; Mothers ; Mutation, Missense ; Obesity - pathology ; Trans-Activators - genetics</subject><ispartof>American journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.345-345</ispartof><rights>Copyright © 2005 Wiley‐Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3714-84cf3730425a2286be1298c5b332687c884de6920476464474710ef0c9a0de2f3</citedby><cites>FETCH-LOGICAL-c3714-84cf3730425a2286be1298c5b332687c884de6920476464474710ef0c9a0de2f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15942952$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>EI-Jaick, Kenia Balbi</creatorcontrib><creatorcontrib>Brunoni, Decio</creatorcontrib><creatorcontrib>Castilla, Eduardo E.</creatorcontrib><creatorcontrib>Moreira, Miguel Angelo</creatorcontrib><creatorcontrib>Orioli, Iêda Mario</creatorcontrib><title>SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Choanal Atresia - pathology</subject><subject>Family Health</subject><subject>Female</subject><subject>Growth Disorders - pathology</subject><subject>Hedgehog Proteins</subject><subject>Holoprosencephaly - genetics</subject><subject>Holoprosencephaly - pathology</subject><subject>Humans</subject><subject>Incisor - abnormalities</subject><subject>Infant, Newborn</subject><subject>Maxilla</subject><subject>Mothers</subject><subject>Mutation, Missense</subject><subject>Obesity - pathology</subject><subject>Trans-Activators - genetics</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><recordid>eNp9kDtv2zAUhYkiReOm3ToHnDpZLt8UR8NI7BhKMrRFR4KmqZoOJaqiDcf_PvSjyZaJxD3fPTj3APANoxFGiPww6-bvyIwoEoR9AAPMOSlYSenF65_wS_A5pTVCFHEpPoFLzBUjipMBSD9nM3gXHMZ4nDroW2hCXJgermKIXR-Ta63rVibsjxrMoy4mvzFDuFtlFTZxs3IZN0sY20wZmGLIer-HjVt608LGPPsQDgPfWp9i_wV8rE1I7uv5vQK_b29-TWZF9Ti9m4yrwlKJWVEyW1NJESPcEFKKhcNElZYvKCWilLYs2dIJRRCTggnGJJMYuRpZZdDSkZpege8n3xz639aljW58si5naV3cJk2QwpRgkcHhCbT54NS7Wne9b3JijZE-lKwPJWujjyVn_Prsu13kG9_gc6sZoCdg54Pbv2umx_P76X_b4rTl08Y9v26Z_kkLSSXXfx6mWslKVWpe6Ql9ATW1ltc</recordid><startdate>20050801</startdate><enddate>20050801</enddate><creator>EI-Jaick, Kenia Balbi</creator><creator>Brunoni, Decio</creator><creator>Castilla, Eduardo E.</creator><creator>Moreira, Miguel Angelo</creator><creator>Orioli, Iêda Mario</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20050801</creationdate><title>SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor</title><author>EI-Jaick, Kenia Balbi ; Brunoni, Decio ; Castilla, Eduardo E. ; Moreira, Miguel Angelo ; Orioli, Iêda Mario</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3714-84cf3730425a2286be1298c5b332687c884de6920476464474710ef0c9a0de2f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Choanal Atresia - pathology</topic><topic>Family Health</topic><topic>Female</topic><topic>Growth Disorders - pathology</topic><topic>Hedgehog Proteins</topic><topic>Holoprosencephaly - genetics</topic><topic>Holoprosencephaly - pathology</topic><topic>Humans</topic><topic>Incisor - abnormalities</topic><topic>Infant, Newborn</topic><topic>Maxilla</topic><topic>Mothers</topic><topic>Mutation, Missense</topic><topic>Obesity - pathology</topic><topic>Trans-Activators - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>EI-Jaick, Kenia Balbi</creatorcontrib><creatorcontrib>Brunoni, Decio</creatorcontrib><creatorcontrib>Castilla, Eduardo E.</creatorcontrib><creatorcontrib>Moreira, Miguel Angelo</creatorcontrib><creatorcontrib>Orioli, Iêda Mario</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>EI-Jaick, Kenia Balbi</au><au>Brunoni, Decio</au><au>Castilla, Eduardo E.</au><au>Moreira, Miguel Angelo</au><au>Orioli, Iêda Mario</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2005-08-01</date><risdate>2005</risdate><volume>136A</volume><issue>4</issue><spage>345</spage><epage>345</epage><pages>345-345</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15942952</pmid><doi>10.1002/ajmg.a.30624</doi><tpages>1</tpages></addata></record>
fulltext fulltext
identifier ISSN: 1552-4825
ispartof American journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.345-345
issn 1552-4825
1552-4833
language eng
recordid cdi_proquest_miscellaneous_20913216
source Wiley-Blackwell Read & Publish Collection
subjects Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Choanal Atresia - pathology
Family Health
Female
Growth Disorders - pathology
Hedgehog Proteins
Holoprosencephaly - genetics
Holoprosencephaly - pathology
Humans
Incisor - abnormalities
Infant, Newborn
Maxilla
Mothers
Mutation, Missense
Obesity - pathology
Trans-Activators - genetics
title SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-04T12%3A27%3A47IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=SHH%20Ile111Asp%20in%20alobar%20holoprosencephaly%20in%20a%20proposita,%20whose%20mother%20had%20only%20a%20solitary%20median%20maxillary%20incisor&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=EI-Jaick,%20Kenia%20Balbi&rft.date=2005-08-01&rft.volume=136A&rft.issue=4&rft.spage=345&rft.epage=345&rft.pages=345-345&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.30624&rft_dat=%3Cproquest_cross%3E20913216%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c3714-84cf3730425a2286be1298c5b332687c884de6920476464474710ef0c9a0de2f3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=20913216&rft_id=info:pmid/15942952&rfr_iscdi=true