Results 101 to 110 of about 16,386 (154)

Unilateral Yasunari Nodule-Like Appearance in a Patient Without Neurofibromatosis Type 1. [PDF]

Eur J Case Rep Intern Med
Ali H, Ahmadova N, Fatihoglu OU, Kocabey M, Caglayan AO, Saatci AO.   +5 more
europepmc   +1 more source

Neurofibromin 1 (<i>NF1</i>) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico. [PDF]

Int J Mol Sci
Blazyte A, Lee H, Yoon C, Jeon S, Lee J, Bayarsaikhan D, Kim J, Park S, Cho J, Baek SA, Byun G, Lee B, Bhak J.   +12 more
europepmc   +1 more source

Oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome, familial atypical multiple mole melanoma syndrome and neurofibromatosis 1 and 2 [PDF]

, 2015
't Kint de Roodenbeke, Daphné, Baurain, Jean-François, Brochez, Lieve, Caplanusi, Teofila, Claes, Kathleen, Hulstaert, Frank, Legius, Eric, Poppe, Bruce, Robays, Jo, Rottey, Sylvie, Schrijvers, Dirk, Stordeur, Sabine, Ullman, Urielle, Van Maerken, Tom   +13 more
core  

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas. [PDF]

PLoS One
Li H, Pemov A, Allaway R, Muir DF, Chang LJ, Banerjee J, Scott AJ, Nagy JMW, Liu J, Carrió M, Mazuelas H, Yachnis A, Lee SY, Zhang X, Lyu Y, Stewart DR, Hirbe A, Blakeley JO, Serra E, Wallis D, Wallace MR.   +20 more
europepmc   +1 more source

Giant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique. [PDF]

Surg Neurol Int
Olivares Peña JL, Santos Franco JA, Olivares Camacho JL, Jimenez-Ponce F, Lara Torres HR, Cuevas Beltrán Z.   +5 more
europepmc   +1 more source

History and clinical epidemiology of NF2-related schwannomatosis. [PDF]

Fam Cancer
Evans DG, Blakeley JO, Plotkin SR.
europepmc   +1 more source

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants. [PDF]

J Med Genet
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B, NF-France network, Wolkenstein P, Pasmant E.   +60 more
europepmc   +1 more source

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling. [PDF]

Hum Reprod
Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM, Paulussen ADC.   +19 more
europepmc   +1 more source

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity. [PDF]

Hum Genomics
Bonetti E, Pellegatta S, Rosati N, Eoli M, Mazzarella L.   +4 more
europepmc   +1 more source

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on <i>PTPN11</i> c.922A>G Variant and Phenotypic Spectrum. [PDF]

Diagnostics (Basel)
Nazarie FV, Miclea D, Șufană C, Botezatu A, Popp RA, Pascanu IM, Alkhzouz C, Bucerzan S, Lazăr C, Lazea C, Vulturar R.   +10 more
europepmc   +1 more source