Results 61 to 70 of about 81,955,644 (156)
The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo +5 more
wiley +1 more source
Rare complications of neurofibromatosis 1 diagnosed incidentally in two children
Cecilia Lazea,1 Carmen Asavoaie,2 Camelia Al-Khzouz,3 Lenuta Popa1 1Department of Pediatrics I, Emergency Clinic Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, 2Department of Imaging and Radiology, Emergency ...
Lazea C, Popa L, Al-Khzouz C, Asavoaie C
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ABSTRACT Background Leukemia is the most common childhood cancer in Mexico, and acute lymphoblastic leukemia (ALL) is the most frequent subtype. Exposure to high concentrations of benzene has been associated with ALL incidence, particularly in urban areas. This study evaluated the relationship between distance to benzene emission sources and the number
Orlando Rivera Zurita +5 more
wiley +1 more source
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Glaucoma secundario a neurofibromatosis tipo-1 [PDF]
Paciente de 59 años de edad, con antecedentes de neurofibromatosis tipo 1 y trauma contuso del ojo derecho desde hace años. Acudió a consulta de oftalmología refiriendo disminución lenta de la visión; al examen físico se constató una agudeza visual de 0 ...
Yaney González Yglesias +2 more
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The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
Walsh & Hoyt: Neurofibromatosis
Clinical and genetic studies had for some time suggested two forms of neurofibromatosis. In 1988, a panel of specialists adopted a classification of the two types. The genes for each form were subsequently cloned. Neurofibromatosis type 1 (NF1), the most
John Kerrison, MD
core +1 more source

