Results 121 to 130 of about 97,471 (278)

ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2002
La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M., Ronald Poulsen R., Cristián Mardones S.   +2 more
doaj  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

NEUROFIBROMATOSIS [PDF]

American Journal of Roentgenology, 1966
W T, Meszaros, F, Guzzo, H, Schorsch
openaire   +2 more sources

Non‐Functional Paraganglioma of the Urinary Bladder: A Rare Cause of Bladder Tumor

IJU Case Reports, Volume 9, Issue 2, March 2026.
ABSTRACT Introduction Paragangliomas of the urinary bladder (PUBs) are rare neuroendocrine tumors, representing less than 0.06% of all bladder neoplasms. While most are functional and associated with catecholamine excess, approximately 15% are non‐functional, often presenting asymptomatically and discovered incidentally.
Matt Wainstein, Vivek Aslot, Faith Dennie, Mark Wainstein, Thenappan Chandrasekar   +4 more
wiley   +1 more source

Incidence and Outcome of Infants With Cancer in Canada: A Report From Cancer in Young People in Canada Database

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Sylvia Cheng, Lesleigh Abbott, Tony Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Donna L. Johnston, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +22 more
wiley   +1 more source

Actin dynamics controlled by IqgC, a RasGAP at the crossroads between the IQGAP and fungal GAP1 families

FEBS Open Bio, Volume 16, Issue 2, Page 268-278, February 2026.
IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić, Darija Putar, Lucija Mijanović, Igor Weber   +3 more
wiley   +1 more source

Incidence of Ophthalmological Complications in NF-1 Patients Treated with MEK Inhibitors

Current Oncology
MEK inhibitors (MEKi) represent innovative and promising treatments for managing manifestations of neurofibromatosis type 1 (NF1). To mitigate potential ophthalmic side effects, such as MEKi-associated retinopathy (MEKAR), patients undergoing MEKi ...
Lena Hummel, May Ameri, Shaikha Alqahtani, Zsila Sadighi, Nagham Al-Zubidi   +4 more
doaj   +1 more source

Causal Pathways Linking Gut Microbiota, Serum Metabolites, and Meningioma Risk: A Mendelian Randomization Analysis

Brain and Behavior, Volume 16, Issue 2, February 2026.
This Mendelian randomization analysis elucidates causal pathways linking gut microbiota and serum metabolites to meningioma. We identified specific risk factors and found that arachidonic acid potentially mediates the effect of CAG−873 sp001701165 on meningioma risk.
Xuanli Gong, Jinxiang Zhang, Mengjiao He, Xiaochen Zhang, Kelan Wang, Yulu Yang, Qingyun Zhao, Xin Zhao, Wei Zou   +8 more
wiley   +1 more source

Plexiform neurofibroma

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Francisco Martins, Ana Carolina Figueiredo   +1 more
wiley   +1 more source

Assessing Executive Functions in Children With Developmental Dyslexia: A Comprehensive Approach

Dyslexia, Volume 32, Issue 1, February 2026.
ABSTRACT Developmental dyslexia (DD) is frequently associated with executive function (EF) deficits, particularly in inhibition, working memory and cognitive flexibility. This study assessed EF in 40 children with DD, aged 7–16, using both performance‐based tests and rating measures, and examined the role of co‐occurring attention deficit hyperactivity
Amanda Guerra, Julie Remaud, Olivier Cadeau, Valérie Charbonnier, Marie‐Charlotte Dubrey, Julie Proteau, Morgane Daheron, Martine Le Roch, Jean‐Luc Roulin, Nathalie Fournet, Didier Le Gall, Arnaud Roy   +11 more
wiley   +1 more source