Results 121 to 130 of about 513,093 (363)

Endoscopic screening for esophageal squamous cell carcinoma [PDF]

, 2013
Esophageal cancer (EC) is the eighth common cancer and the sixth most common cause of death from cancer worldwide. Esophageal squamous cell carcinoma (ESCC) remains the most common type of EC in the developing world and an important health problem in ...
Amiriani, T., Khoshnia, M., Merat, S., Nouroozi, A., Pourshams, A., Roshandel, G., Semnani, S.   +6 more
core  

Safety and Effectiveness of Sutimlimab in Cold Agglutinin Disease: A Real‐World International Experience

American Journal of Hematology, EarlyView.
ABSTRACT Sutimlimab is a monoclonal antibody against complement fraction C1s approved for the treatment of hemolytic anemia due to cold agglutinin disease (CAD). Here, we analyzed and report the largest international CAD cohort of sutimlimab‐treated patients ever reported to highlight its safety and effectiveness in the real‐world setting. We accrued a
Bruno Fattizzo, Elisa Sambruna, Yoshitaka Miyakawa, Marc Michel, Carlo Visco, Michael Fillitz, George Kannourakis, Maria Bruna Greve, Moritz Kleemiss, Johan Cid, Andrea Patriarca, Laura Pavan, Arbana Dizdari, Nilla Maschio, Antonella Sau, Cinzia Bitetti, Riccardo Mario Colombo, Luigi Curreli, Dorela Lame, Uros Markovic, Fabrizio Pappagallo, Giacinto Luca Pedone, Davide Rapezzi, Vincenzo Sammartano, Nicola Tumedei, Antonio Giovanni Solimando, Jalink Marit, Luana Fianchi, Jahanzaib Khwaja, Antonio De Vivo, Francesco Lanza, Fabrizio Vianello, Esther N. Oliva, Catherine Broome, Francesco Passamonti, Ulrich Jaeger, Bernd Jilma, Guillaume Moulis, Wilma Barcellini   +38 more
wiley   +1 more source

Naxos Disease [PDF]

, 2005
Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos, Tsatsopoulou, Adalena   +1 more
core   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Squamous Cell Carcinoma of Endometrium with Extensive Icthyosis Uteri [PDF]

, 2011
We report a rare case of squamous cell carcinoma of endometrium arising in icthyosis uteri in a 60 years old lady presenting with vaginal ...
J, Padmini, K, Amita
core  

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria

European Heart Journal, 2010
F. Marcus, W. McKenna, D. Sherrill, C. Basso, B. Bauce, D. A. Bluemke, H. Calkins, D. Corrado, M. Cox, James P. Daubert, G. Fontaine, K. Gear, R. Hauer, A. Nava, Michael H. Picard, N. Protonotarios, J. Saffitz, Danita M. Yoerger Sanborn, Jonathan S. Steinberg, H. Tandri, G. Thiene, J. Towbin, A. Tsatsopoulou, T. Wichter, W. Zareba   +24 more
semanticscholar   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

[Bronchopulmonary dysplasia].

Jornal de Pediatria, 2005
L. Monte, L. V. Silva Filho, M. Miyoshi, T. Rozov   +3 more
semanticscholar   +1 more source