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Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.
Lorber A, Gazit AZ, Khoury A, Schwartz Y, Mandel H. Lorber A, et al. Pediatr Cardiol. 2003 Sep-Oct;24(5):476-81. doi: 10.1007/s00246-002-0215-3. Pediatr Cardiol. 2003. PMID: 14627317 Review.
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. ...Recently, the TRMA gene …
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder defined by the occurrence of megalobl …
Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.
Falik-Zaccai TC, Barsheshet Y, Mandel H, Segev M, Lorber A, Gelberg S, Kalfon L, Ben Haroush S, Shalata A, Gelernter-Yaniv L, Chaim S, Raviv Shay D, Khayat M, Werbner M, Levi I, Shoval Y, Tal G, Shalev S, Reuveni E, Avitan-Hersh E, Vlodavsky E, Appl-Sarid L, Goldsher D, Bergman R, Segal Z, Bitterman-Deutsch O, Avni O. Falik-Zaccai TC, et al. EMBO Mol Med. 2017 Mar;9(3):319-336. doi: 10.15252/emmm.201606523. EMBO Mol Med. 2017. PMID: 28069640 Free PMC article.
A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. ...Our results determined PPP1R13L as the gene underlying a novel autosomal-recessive ca
A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three
The familial form of atrial septal defect.
Gelernter-Yaniv L, Lorber A. Gelernter-Yaniv L, et al. Acta Paediatr. 2007 May;96(5):726-30. doi: 10.1111/j.1651-2227.2007.00240.x. Acta Paediatr. 2007. PMID: 17462063
Although a routine genetic investigation is not yet available, genetic patterns of inheritance may be compatible with autosomal dominant inheritance. Healthy parents of affected offspring may suggest a variable gene penetrance or past spontaneous ASD closure. Conduc …
Although a routine genetic investigation is not yet available, genetic patterns of inheritance may be compatible with autosomal domin …
Quality of life, depressed mood, and self-esteem in adolescents with heart disease.
Cohen M, Mansoor D, Langut H, Lorber A. Cohen M, et al. Psychosom Med. 2007 May;69(4):313-8. doi: 10.1097/PSY.0b013e318051542c. Epub 2007 May 17. Psychosom Med. 2007. PMID: 17510294
Psychosocial factors have a significant effect on the psychological state of adolescents, and they should be addressed and treated....
Psychosocial factors have a significant effect on the psychological state of adolescents, and they should be addressed and treated... …
Analysis of left and right ventricular Doppler tissue imaging in patients undergoing percutaneous closure of patent foramen ovale.
Yalonetsky S, Schwartz Y, Lorber A. Yalonetsky S, et al. J Invasive Cardiol. 2007 Jun;19(6):252-4. J Invasive Cardiol. 2007. PMID: 17541124
The analysis revealed a mild, but statistically significant, reduction in the systolic motion of the basal interventricular septum. ...
The analysis revealed a mild, but statistically significant, reduction in the systolic motion of the basal interventricular septum. . …
Increased incidence of coronary artery origin anomalies associated with isolated patent ductus arteriosus.
Dotan M, Roguin A, Sinyor D, Yalonetsky S, Asaad K, Schwartz Y, Khatib I, Lorber A. Dotan M, et al. Pediatr Cardiol. 2013 Apr;34(4):907-11. doi: 10.1007/s00246-012-0569-0. Epub 2012 Nov 11. Pediatr Cardiol. 2013. PMID: 23143349
Seven of these patients had a single common coronary artery origin (6.8 %). One patient had an aberrant origin of the left coronary artery from the noncoronary sinus, and three patients had an aberrant origin of the right coronary artery: two from the left coronary sinus a …
Seven of these patients had a single common coronary artery origin (6.8 %). One patient had an aberrant origin of the left coronary a …
Percutaneous closure of a secundum atrial septal defect in elderly patients.
Yalonetsky S, Lorber A. Yalonetsky S, et al. J Invasive Cardiol. 2007 Dec;19(12):510-2. J Invasive Cardiol. 2007. PMID: 18180520
Because of increasing longevity, this has become a persistent issue. The objective of this study was to assess the feasibility and outcome of percutaneous ASD closure in elderly patients (> 60 years of age)....
Because of increasing longevity, this has become a persistent issue. The objective of this study was to assess the feasibility and ou …
Mitral valve destruction by Hodgkin's lymphoma-associated Loefler endocarditis.
Yalonetsky S, Mishaly D, Ben-Barak A, Lorber A. Yalonetsky S, et al. Pediatr Cardiol. 2008 Sep;29(5):983-5. doi: 10.1007/s00246-007-9135-6. Epub 2007 Nov 15. Pediatr Cardiol. 2008. PMID: 18004615
We present a case of nearly total posterior mitral leaflet destruction due to Loeffler endocarditis associated with Hodgkin's lymphoma in a 15-year-old adolescent. ...
We present a case of nearly total posterior mitral leaflet destruction due to Loeffler endocarditis associated with Hodgkin's lymphom …
Coronary angiography in patients undergoing transcatheter closure of interatrial shunt.
Yalonetsky S, Schwartz Y, Lorber A. Yalonetsky S, et al. J Invasive Cardiol. 2007 Jan;19(1):16-8. J Invasive Cardiol. 2007. PMID: 17297179
CA should be considered a part of cardiac catheterization in selected patients referred for transcatheter closure of secundum ASD or PFO....
CA should be considered a part of cardiac catheterization in selected patients referred for transcatheter closure of secundum ASD or …
[Transcatheter treatment of combined congenital heart anomalies in an adult cyanotic patient].
Yalonetsky S, Khoury A, Schwartz Y, Lorber A. Yalonetsky S, et al. Harefuah. 2006 Sep;145(9):654-5, 703. Harefuah. 2006. PMID: 17078425 Hebrew.
This case report describes transcatheter treatment of congenital pulmonary valve stenosis and secundum atrial septal defect which were diagnosed in a 31 year old woman who presented with cyanosis. ...
This case report describes transcatheter treatment of congenital pulmonary valve stenosis and secundum atrial septal defect which were diagn …
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