Results 171 to 180 of about 2,439 (246)

Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

, 2005
Kiran K. Mantripragada
openalex   +1 more source

Innovative designs to improve trials in the neurofibromatoses [PDF]

Dhaenens, Britt
core   +6 more sources

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis. [PDF]

Sci Rep
Montini M, Bonacchi L, Sidoti D, Cuccoli S, Pantaleo M, Peron A, Scuffi I, DosSantos MF, Nassini R, De Logu F, Papi L.   +10 more
europepmc   +1 more source

Neurofibromatose tipo 1 na infância: uma revisão da literatura

Jana Lopes de Sá, Júlia Freire Pontes, Isadora Dacielle Fortunato de Oliveira   +2 more
openalex   +2 more sources

NEUROFIBROMATOSE TIPO 1:CRITÉRIOS DE DIAGNÓSTICO PRECOCE

, 2019
Isabela Souza Guilherme, Carolina de Araújo Oliveira, Cesar Antônio Franco Marinho, Leonardo Martins Silva   +3 more
openalex   +1 more source

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis. [PDF]

Int J Mol Sci
Ognibene M, Piccolo G, Crocco M, Di Duca M, Verrico A, Molteni M, Romano F, Capra V, Rossi A, Zara F, De Marco P, Milanaccio C.   +11 more
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

Long-standing retroperitoneal schwannoma in a 36-year-old female: A case report. [PDF]

Int J Surg Case Rep
Shah AK, Ghimire S, Gyawali B, Karki B, Neupane NP.   +4 more
europepmc   +1 more source

Hémothorax spontané: complication rare de la neurofibromatose type 1

, 2017
S. Fdil, Saad Bouchikhi, J.E. Bourkadi
openalex   +1 more source