Results 121 to 130 of about 135,897 (310)

A proposed therapeutic algorithm for colorectal cancer prevention, based on endoscopic polypectomies in patients with multiple colonic polyps [PDF]

, 2018
Introduction. Results from single medical centers having large numbers of patients with multiple colonic polyps that have undergone colonoscopy management are rare. Material and method.
Alexandru, Septimiu, Kutasi, Reka Incze, Moldovan, Cosmin Alec, Ungureanu, Florin D   +3 more
core   +1 more source

Disseminated Metastasis following Periampullary Cancer Resection Masquerading as Uveitis

Indian Journal of Ophthalmology, 2005
The Uveitis Masquerade Syndromes (UMS) are a group of ocular diseases that mimic intraocular inflammation, but are in fact neoplastic in nature. We report a patient with disseminated malignancy who presented with uveitis 5 years after an apparently ...
Kaushik Sushmita, Gupta Vishali, Singh Ramandeep, Vasishta Rakesh, Rajwanshi Arvind, Gupta Amod   +5 more
doaj  

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

CNS Diseases and Uveitis

Journal of Ophthalmic & Vision Research, 2011
A number of inflammatory, infectious, neoplastic and idiopathic disorders affect the eye and the central nervous system (CNS) concurrently or at different time frames.
Pia Allegri, Roberto Rissotto, Carl P Herbort, Ugo Murialdo   +3 more
doaj  

Additional germline findings from a tumor profiling program

BMC Medical Genomics, 2018
Background Matched tumor-normal sequencing, applied in precision cancer medicine, can identify unidentified germline Medically Actionable Variants (gMAVS) in cancer predisposition genes. We report patient preferences for the return of additional germline
Neda Stjepanovic, Tracy L. Stockley, Philippe L. Bedard, Jeanna M. McCuaig, Melyssa Aronson, Spring Holter, Kara Semotiuk, Natasha B. Leighl, Raymond Jang, Monika K. Krzyzanowska, Amit M. Oza, Abha Gupta, Christine Elser, Lailah Ahmed, Lisa Wang, Suzanne Kamel-Reid, Lillian L. Siu, Raymond H. Kim   +17 more
doaj   +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

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

On the use of clustering and the MeSH controlled vocabulary to improve MEDLINE abstract search [PDF]

, 2005
Databases of genomic documents contain substantial amounts of structured information in addition to the texts of titles and abstracts. Unstructured information retrieval techniques fail to take advantage of the structured information available.
Blott, Stephen, Camous, Fabrice, Gurrin, Cathal, Jones, Gareth J.F.   +3 more
core  

How I Diagnose Hypereosinophilic Syndromes

European Medical Journal, 2017
Hypereosinophilic syndromes are a group of disorders characterised by significant eosinophilia and organ damage. They have proven challenging to define, diagnose, and study for many years, due in part to their variable clinical presentations, the overlap
Simon Kavanagh, Jeffrey H. Lipton
doaj