1
40
8
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1002/ajmg.a.36237" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.36237</a>
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Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
251-258
Issue
1
Volume
164
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Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Exome Sequencing Identifies a Novel EP300 Frame Shift Mutation in a Patient With Features That Overlap Cornelia de Lange Syndrome
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2014
2014-01
Subject
The topic of the resource
cbp; Cornelia de Lange syndrome; creb-binding protein; embryonic stem-cells; EP300; genetic-heterogeneity; Genetics & Heredity; MCA/ID; p300; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome; transcriptional coactivators; whole exome sequencing
Creator
An entity primarily responsible for making the resource
Woods S A; Robinson H B; Kohler L J; Agamanolis D; Sterbenz G; Khalifa M
Description
An account of the resource
Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS. A diagnosis of RTS or CdLS is molecularly confirmed in only 65% of clinically identified cases, suggesting that additional causative genes exist for both conditions. In addition, although EP300 and CREBBP encode homologous proteins and perform similar functions, only eight EP300 positive RTS patients have been reported, suggesting that patients with EP300 mutations might be escaping clinical recognition. We report on a child with multiple congenital abnormalities and intellectual disability whose facial features and complex phenotype resemble CdLS. However, no mutations in CdLS-related genes were identified. Rather, a novel EP300 mutation was found on whole exome sequencing. Possible links between EP300 and genes causing CdLS are evident in the literature. Both EP300 and HDAC8 are involved in the regulation of TP53 transcriptional activity. In addition, p300 and other chromatin associated proteins, including NIPBL, SMCA1, and SMC3, have been found at enhancer regions in different cell types. It is therefore possible that EP300 and CdLS-related genes are involved in additional shared pathways, producing overlapping phenotypes. As whole exome sequencing becomes more widely utilized, the diverse phenotypes associated with EP300 mutations should be better understood. In the meantime, testing for EP300 mutations in those with features of CdLS may be warranted. (c) 2013 Wiley Periodicals, Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.36237" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.36237</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article
2014
Agamanolis D
American Journal of Medical Genetics Part A
cbp
Cornelia de Lange syndrome
creb-binding protein
embryonic stem-cells
EP300
genetic-heterogeneity
Genetics & Heredity
Journal Article
Khalifa M
Kohler L J
MCA/ID
p300
Robinson H B
Rubinstein-Taybi syndrome
Sterbenz G
transcriptional coactivators
Whole Exome Sequencing
Woods S A
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1016/0022-3468(90)90568-t" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/0022-3468(90)90568-t</a>
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
538-542
Issue
5
Volume
25
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Title
A name given to the resource
PLACENTAL EMBOLI FROM A FETUS-PAPYRACEUS
Publisher
An entity responsible for making the resource available
Journal of Pediatric Surgery
Date
A point or period of time associated with an event in the lifecycle of the resource
1990
1990-05
Subject
The topic of the resource
Pediatrics; Surgery
Creator
An entity primarily responsible for making the resource
Wagner D S; Klein R L; Robinson H B; Novak R W
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/0022-3468(90)90568-t" target="_blank" rel="noreferrer noopener">10.1016/0022-3468(90)90568-t</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article
1990
Journal Article
Journal of pediatric surgery
Klein R L
Novak R W
Pediatrics
Robinson H B
Surgery
Wagner D S
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1002/ajmg.1320340230" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.1320340230</a>
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
266-267
Issue
2
Volume
34
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Title
A name given to the resource
AGNATHIA, HOLOPROSENCEPHALY, AND SITUS INVERSUS
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
1989
1989-10
Subject
The topic of the resource
Genetics & Heredity
Creator
An entity primarily responsible for making the resource
Robinson H B; Lenke R
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.1320340230" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320340230</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article
1989
American Journal of Medical Genetics
Genetics & Heredity
Journal Article
Lenke R
Robinson H B
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.7863/jum.2007.26.3.403" target="_blank" rel="noreferrer noopener">http://doi.org/10.7863/jum.2007.26.3.403</a>
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Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
403-406
Issue
3
Volume
26
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Title
A name given to the resource
Prenatal diagnosis of partial anomalous pulmonary venous connection in a patient with Fryns syndrome
Publisher
An entity responsible for making the resource available
Journal of Ultrasound in Medicine
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
2007-03
Subject
The topic of the resource
Acoustics; Nuclear Medicine & Medical Imaging; Radiology
Creator
An entity primarily responsible for making the resource
Patel C R; Smith G L; Robinson H B
Description
An account of the resource
We describe the prenatal diagnosis of partial anomalous pulmonary venous connection (PAPVC) at 27 weeks' gestation in a patient with Fryns with the right upper pulmonary vein to the right superior vena cava and right atrial junction. The remaining pulmonary veins were connected to the left atrium. The pulsed Doppler pattern at the site of the anomalous connection was suggestive of a pulmonary vein. The fetus had associated other anomalies in the form of cystic hygroma, a single umbilical artery, and an absent left kidney. The cardiac diagnosis was confirmed on postnatal echocardiography. Postnatal diagnosis of Fryns syndrome was made.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.7863/jum.2007.26.3.403" target="_blank" rel="noreferrer noopener">10.7863/jum.2007.26.3.403</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article
2007
Acoustics
Journal Article
Journal of Ultrasound in Medicine
Nuclear Medicine & Medical Imaging
Patel C R
Radiology
Robinson H B
Smith G L
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.7863/jum.2007.26.8.1107" target="_blank" rel="noreferrer noopener">http://doi.org/10.7863/jum.2007.26.8.1107</a>
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Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
1107-1110
Issue
8
Volume
26
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Dublin Core
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Title
A name given to the resource
Prenatal echocardiographic diagnosis of a right aortic arch and bilateral arterial duct with isolation of the left subclavian artery from the left pulmonary artery
Publisher
An entity responsible for making the resource available
Journal of Ultrasound in Medicine
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
2007-08
Subject
The topic of the resource
22q11 deletion; Acoustics; Nuclear Medicine & Medical Imaging; Radiology
Creator
An entity primarily responsible for making the resource
Patel C R; Smith G L; Lane J R; Robinson H B
Description
An account of the resource
Isolation of the subclavian artery is an uncommon anomaly of the aortic arch system in which one subclavian artery loses its connection with the aorta and arises from the homolateral pulmonary artery by way of a ductus arteriosus. An isolated subclavian artery is always contralateral to the side of the aortic arch. We report the prenatal diagnosis of a right aortic arch and bilateral arterial duct with isolation of the left subclavian artery arising from the left pulmonary artery diagnosed at 25 weeks' gestation by fetal echocardiography.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.7863/jum.2007.26.8.1107" target="_blank" rel="noreferrer noopener">10.7863/jum.2007.26.8.1107</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article
2007
22q11 deletion
Acoustics
Journal Article
Journal of Ultrasound in Medicine
Lane J R
Nuclear Medicine & Medical Imaging
Patel C R
Radiology
Robinson H B
Smith G L
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
n/a
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
297-311
Volume
25
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Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
THE ROLE OF THE PATHOLOGIST IN THE EVALUATION OF 1ST TRIMESTER ABORTIONS
Publisher
An entity responsible for making the resource available
Pathology Annual
Date
A point or period of time associated with an event in the lifecycle of the resource
1990
1990
Subject
The topic of the resource
Pathology
Creator
An entity primarily responsible for making the resource
Novak R W; Malone J M; Robinson H B
Identifier
An unambiguous reference to the resource within a given context
n/a
Format
The file format, physical medium, or dimensions of the resource
Journal Article
1990
Journal Article
Malone J M
Novak R W
Pathology
Pathology annual
Robinson H B
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
n/a
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
976-976
Issue
3
Volume
46
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Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Long-term Prevention Of Atherosclerosis By Ursodeoxycholic Acid
Publisher
An entity responsible for making the resource available
Federation Proceedings
Date
A point or period of time associated with an event in the lifecycle of the resource
1987
1987-03
Subject
The topic of the resource
Life Sciences & Biomedicine - Other Topics
Creator
An entity primarily responsible for making the resource
Hutterer F; Agamanolis D P; Robinson H B; Malmer M
Identifier
An unambiguous reference to the resource within a given context
n/a
Format
The file format, physical medium, or dimensions of the resource
Journal Article or Conference Abstract Publication
1987
Agamanolis D P
Federation Proceedings
Hutterer F
Journal Article or Conference Abstract Publication
Life Sciences & Biomedicine - Other Topics
Malmer M
Robinson H B
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1212/wnl.36.5.674" target="_blank" rel="noreferrer noopener">http://doi.org/10.1212/wnl.36.5.674</a>
Rights
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
Pages
674-681
Issue
5
Volume
36
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Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
LIPOPROTEIN DISORDER, CIRRHOSIS, AND OLIVOPONTOCEREBELLAR DEGENERATION IN 2 SIBLINGS
Publisher
An entity responsible for making the resource available
Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
1986
1986-05
Subject
The topic of the resource
Neurosciences & Neurology
Creator
An entity primarily responsible for making the resource
Agamanolis D P; Potter J L; Naito H K; Robinson H B; Kulasekaran T
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1212/wnl.36.5.674" target="_blank" rel="noreferrer noopener">10.1212/wnl.36.5.674</a>
Format
The file format, physical medium, or dimensions of the resource
Journal Article or Conference Abstract Publication
1986
Agamanolis D P
Journal Article or Conference Abstract Publication
Kulasekaran T
Naito H K
Neurology
Neurosciences & Neurology
Potter J L
Robinson H B