Long-term Prevention Of Atherosclerosis By Ursodeoxycholic Acid
Life Sciences & Biomedicine - Other Topics
Hutterer F; Agamanolis D P; Robinson H B; Malmer M
Federation Proceedings
1987
1987-03
Journal Article or Conference Abstract Publication
n/a
LIPOPROTEIN DISORDER, CIRRHOSIS, AND OLIVOPONTOCEREBELLAR DEGENERATION IN 2 SIBLINGS
Neurosciences & Neurology
Agamanolis D P; Potter J L; Naito H K; Robinson H B; Kulasekaran T
Neurology
1986
1986-05
Journal Article or Conference Abstract Publication
<a href="http://doi.org/10.1212/wnl.36.5.674" target="_blank" rel="noreferrer noopener">10.1212/wnl.36.5.674</a>
THE ROLE OF THE PATHOLOGIST IN THE EVALUATION OF 1ST TRIMESTER ABORTIONS
Pathology
Novak R W; Malone J M; Robinson H B
Pathology Annual
1990
1990
Journal Article
n/a
Exome Sequencing Identifies a Novel EP300 Frame Shift Mutation in a Patient With Features That Overlap Cornelia de Lange Syndrome
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
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.
Woods S A; Robinson H B; Kohler L J; Agamanolis D; Sterbenz G; Khalifa M
American Journal of Medical Genetics Part A
2014
2014-01
Journal Article
<a href="http://doi.org/10.1002/ajmg.a.36237" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.36237</a>
PLACENTAL EMBOLI FROM A FETUS-PAPYRACEUS
Pediatrics; Surgery
Wagner D S; Klein R L; Robinson H B; Novak R W
Journal of Pediatric Surgery
1990
1990-05
Journal Article
<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>
AGNATHIA, HOLOPROSENCEPHALY, AND SITUS INVERSUS
Genetics & Heredity
Robinson H B; Lenke R
American Journal of Medical Genetics
1989
1989-10
Journal Article
<a href="http://doi.org/10.1002/ajmg.1320340230" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320340230</a>
Prenatal diagnosis of partial anomalous pulmonary venous connection in a patient with Fryns syndrome
Acoustics; Nuclear Medicine & Medical Imaging; Radiology
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.
Patel C R; Smith G L; Robinson H B
Journal of Ultrasound in Medicine
2007
2007-03
Journal Article
<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>
Prenatal echocardiographic diagnosis of a right aortic arch and bilateral arterial duct with isolation of the left subclavian artery from the left pulmonary artery
22q11 deletion; Acoustics; Nuclear Medicine & Medical Imaging; Radiology
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.
Patel C R; Smith G L; Lane J R; Robinson H B
Journal of Ultrasound in Medicine
2007
2007-08
Journal Article
<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>