Results 81 to 90 of about 81,955,644 (156)

Neurofibrosarcoma en neurofibromatosis I [PDF]

, 1996
Se presenta el caso de un hombre de 52 años con una masa en antebrazo izquierdo de 5 años de evolución. El diagnóstico clínico e histopatológico correspondió a Neurofibrosarcoma o Schwanoma Maligno. El paciente padecía una Neurofibromatosis I (NF-1)
Jiménez C., Guillermo, Jaramillo R, Ana Patricia, Restrepo, Rodrigo   +2 more
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Multiple GISTs in neurofibromatosis type 1 : incidental diagnosis in a patient with acute abdomen [PDF]

, 2009
Introdução - Tem sido descrito na literatura incidência aumentada de tumores estromais gastrointestinais (GISTs) em portadores de neurofibromatose tipo 1. Estes tumores tipicamente ocorrem no intestino delgado e, frequentemente, são múltiplos.
Mendonça, Taís Burmann de, Chedid, Aljamir Duarte, Golbspan, Liane, Grezzana Filho, Tomáz de Jesus Maria, Kruel, Cleber Rosito Pinto   +4 more
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A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

, 2014
Neurofibromatosis (NF) Type 1 (NF-1) is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other ...
Ersen Karakılıç, Mehtap Navdar Başaran, Mazhar Müslüm Tuna, Berçem Ayçiçek Doğan, Büşranur Çavdarlı, Yasemin Tütüncü, Serdar Güler, Dilek Berker   +7 more
core   +1 more source

Genetic control of purothionins in wheat: problems of the aneuploid analysis when searching for regulatory genes [PDF]

, 1979
The study of the genetic control of purothionins in wheat endosperm illustrates some of the problems and pitfalls faced in aneuploid analysis of regulatory effects.
García Olmedo, Francisco, Fernandez de Caleya, R., Carbonero Zalduegui, Pilar, Hernandez Lucas, Carlos   +3 more
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Neumotórax espontáneo asociado a fibrosis pulmonar en un paciente con neurofibromatosis tipo 2 [PDF]

, 2010
El compromiso pulmonar en pacientes con neurofibromatosis ha sido reiteradamente descrito como una complicación muy rara en la variedad tipo 1. Se caracteriza por enfermedad pulmonar intersticial difusa, fibrosis pulmonar, neoplasias torácicas y ...
Sabogal Barrios, Rubén, Sabogal-Barrios, Rubén, Gabriel Alcalá-Cerra, Carlos Fernando Lozano-Tagua, Luis Rafael Moscote-Salazar, Lozano Tagua, Carlos Fernando, Lozano-Tagua, Carlos Fernando, Alcala-Cerra, Gabriel, Moscote Salazar, Luis Rafael, Rubén Sabogal-Barrios, Moscote-Salazar, Luis Rafael   +10 more
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Neurofibromatosis Tipo 1 (enfermedad de von Recklinghausen): reporte de 2 casos

, 2017
La neurofibromatosis tipo 1, anteriormente conocida como enfermedad de von Recklinghausen, es una genodermatosis caracterizada por manchas color café con leche y neurofibromas. La fisiopatología involucra una mutación en el gen NF1, el cual codifica para
Cepeda Valdés, Rodrigo, Salas Alanís, Julio César, Garza Ramos, Rafael de la   +2 more
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Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature. [PDF]

Int J Mol Sci
Meneses F, Quintero C, Lores J, Gómez-Pineda E, Ramírez-Montaño D, Candelo E, Pachajoa H.   +6 more
europepmc   +1 more source

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism. [PDF]

Front Pediatr
Wang W, Jiao Y, Xiu Y, Wang J, Hu Y.
europepmc   +1 more source

Neurofibromatosis-1

, 2001
Extensive retinal microvascular malformation involving both small and large retinal vessels. (Ref: BJO 2002:86, p282-284). Anatomy: Retina. Pathology: Retinal microvascular malformations. Disease/Diagnosis: Neurofibromatosis type 1.
William F. Hoyt, MD
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Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses. [PDF]

Einstein (Sao Paulo)
Angeloni LL, Jorente J, Oliveira Sobrinho RP, Gil-da-Silva-Lopes VL, Vidoti-Nascimento CG, Guaragna MS, Vieira TP, Steiner CE, Brazilian Rare Genomes Project Consortium, Teixeira ACB, Coelho AVC, Quaio CRAC, Moreno CA, Perrone E, Nascimento Junior JBD, Espolaor JGA, Prota JRM, Oliveira Filho JB, Ceroni JRM, Chen K, Ferreira LT, Santana LS, Mofatto LS, Virmond LDA, Silva MFB, Migliavacca MP, Minillo RM, Yamada RY, Sitnik R, Almeida TF, Silva TYT, Cintra VP.   +31 more
europepmc   +1 more source