Results 101 to 110 of about 363,478 (240)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

The burden of congenital rubella syndrome in the Philippines: results from a retrospective assessment

Western Pacific Surveillance and Response, 2017
Introduction: In line with the regional aim of eliminating rubella and congenital rubella syndrome (CRS), phased introduction of rubella-containing vaccines (RCV) in the Philippines’ routine immunization programme began in 2010.
Anna Lena Lopez, Peter Francis Raguindin, Jose Jonas del Rosario, Ramon Najarro, Eleanor Du, Josephine Aldaba, Aida Salonga, Andrea Kristina Monzon-Pajarillo, Alvina Pauline Santiago, Alan Ou, Maria Joyce Ducusin   +10 more
doaj   +1 more source

Linajes de Trypanosoma cruzi en pacientes con enfermedad de Chagas y coinfección por VIH [PDF]

, 2009
Introducción. Las poblaciones naturales de T. cruzi han sido clasificadas en seis linajes filogenéticos o unidades de tipificación discreta: T. cruzi I, IIa, IIb, IIc, IId y IIe, que pueden jugar un rol en el tropismo tisular y patogénesis de la ...
Altcheh, Jaime Marcelo, Begher, Sandra, Bisio, Margarita María Catalina, Burgos, Juan Miguel, Cura, Carolina Inés, Duffy, Tomás, Freilij, Hector León, Giganti, Salvador Óscar, Levin, Mariano Jorge, Scapellato, Pablo Gustavo, Schijman, Alejandro Gabriel, Schreck, Ricardo   +11 more
core  

Is antenatal syphilis screening still cost effective in sub-Saharan Africa [PDF]

, 2003
Objectives: To estimate the cost effectiveness of on-site antenatal syphilis screening and treatment in\ud Mwanza, Tanzania. To compare this intervention with other antenatal and child health interventions,\ud specifically the prevention of mother to ...
Changalucha, J, Gumodoka, B, Hays, R, Kumaranayake, L, Lisekie, F, Mabey, D, Mugeye, K, Ndeli, L, Terris-Prestholt, F, Todd, J, Watson-Jones, D, Weiss, H   +11 more
core   +2 more sources

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

NEOREG : design and implementation of an online neonatal registration system to access, follow and analyse data of newborns with congenital cytomegalovirus infection [PDF]

, 2013
Today's registration of newborns with congenital cytomegalovirus (cCMV) infection is still performed on paper-based forms in Flanders, Belgium. This process has a large administrative impact. It is imortant that all screening tests are registered to have
De Backere, Femke, De Leenheer, Marc, De Turck, Filip, Keymeulen, Annelies, Smets, Koenraad, Steurbaut, Kristof   +5 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

American Journal of Hematology, EarlyView.
Athina Ntoumaziou, Mary Risinger, Yasmin Elgammal, Wenying Zhang, Theodosia A. Kalfa, Luke R. Smart   +5 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Zika Virus Infection in Pregnancy: Advanced Diagnostic Approaches in Dengue-Naive and Dengue-Experienced Pregnant Women and Possible Implication for Cross-Reactivity and Cross-Protection

Microorganisms, 2019
Zika virus (ZIKV) infection has been linked to congenital defects in fetuses and infants, as exemplified by the microcephaly epidemic in Brazil. Given the overlapping presence of Dengue virus (DENV) in the majority of ZIKV epidemic regions, advanced ...
Maurizio Zavattoni, Francesca Rovida, Elena Percivalle, Irene Cassaniti, Antonella Sarasini, Alessia Arossa, Beatrice Tassis, Lina Bollani, Giuseppina Lombardi, Simona Orcesi, Fausto Baldanti   +10 more
doaj   +1 more source