Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Authors: Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, De Luca, Alessandro

Source: In Genetics in Medicine November 2024 26(11)

Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions

Authors: Castellanos, Elisabeth, Blok, Marinus J., Brems, Hilde, Koczkowska, Magdalena, Pasmant, Eric, Wimmer, Katharina, Pacot, Laurence, Ye, Manuela, Nectoux, Juliette, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Orhant, Lucie, Vaucouleur, Nicolas, Blanché, Hélène, Parfait, Béatrice, Wolkenstein, Pierre, Vidaud, Michel, Vidaud, Dominique

Source: In The Journal of Molecular Diagnostics February 2024 26(2):150-157

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

Authors: Magallón-Lorenz, Miriam, Terribas, Ernest, Ortega-Bertran, Sara, Creus-Bachiller, Edgar, Fernández, Marco, Requena, Gerard, Rosas, Inma, Mazuelas, Helena, Uriarte-Arrazola, Itziar, Negro, Alex, Lausová, Tereza, Castellanos, Elisabeth, Blanco, Ignacio, DeVries, George, Kawashima, Hiroyuki, Legius, Eric, Brems, Hilde, Mautner, Viktor, Kluwe, Lan, Ratner, Nancy, Wallace, Margaret, Fernández-Rodriguez, Juana, Lázaro, Conxi, Fletcher, Jonathan A., Reuss, David, Carrió, Meritxell, Gel, Bernat, Serra, Eduard

Source: In iScience 17 February 2023 26(2)

Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

Authors: Catasús, Núria, Rosas, Inma, Bonache, Sandra, Negro, Alex, Torres-Martin, Miguel, Plana-Pla, Adrià, Salvador, Hector, Serra, Eduard, Blanco, Ignacio, Castellanos, Elisabeth

Source: In Molecular Therapy - Nucleic Acids 13 December 2022 30:493-505

Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome

Authors: Plana‐Pla, Adrià, Condal, Laura, Jaka, Ane, Blanco, Ignacio, Castellanos, Elisabeth, Bielsa, Isabel

Source: Pediatric dermatology. 40(1):179-181

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185334885.0x000001&indx=1&recIds=ETOCvdc_100185334885.0x000001

Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience

Authors: Piotrowski, Arkadiusz, Koczkowska, Magdalena, Poplawski, Andrzej B., Bartoszewski, Rafał, Króliczewski, Jarosław, Mieczkowska, Alina, Gomes, Alicia, Crowley, Michael R., Crossman, David K., Chen, Yunjia, Lao, Ping, Serra, Eduard, Llach, Meritxell C., Castellanos, Elisabeth, Messiaen, Ludwine M.

Source: Human mutation. 43(1):74-84

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140073209.0x000001&indx=1&recIds=ETOCvdc_100140073209.0x000001

Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Authors: Munté, Elisabet^1,2, Roca, Carla^1,2, Valle, Jesús Del^1,3, Feliubadaló, Lidia^1,3, Pineda, Marta^1,3, Gel, Bernat⁴, Castellanos, Elisabeth^5,6, Rivera, Barbara^1,7,8, Cordero, David^9,10,11, Moreno, Víctor^11,12,13,14, Lázaro, Conxi^1,3, Moreno-Cabrera, José Marcos^1,9,12

Source: Briefings in Bioinformatics; Jan2025, Vol. 26 Issue 1, p1-10, 10p

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Authors: Schlüter, Agatha, Rodriguez-Palmero, Agustí, Cáceres, Alejandro, Nascimento, Andrés, García-Cazorla, Àngels, Cueto-González, Anna, Marcé-Grau, Anna, Nel.lo, Anna Ruiz, Martínez-Monseny, Antonio, Sànchez, Aurora, García, Belén, Pérez-Dueñas, Belén, Gel, Bernat, Fusté, Berta, Hernández-Ferrer, Carles, Casasnovas, Carlos, Ortez, Carlos, Arjona, César, Hernando-Davalillo, Cristina, de Benito, Daniel Natera, Amador, Daniel Picó, Gómez-Andrés, David, Yubero, Dèlia, Pelegrí-Sisó, Dolors, Verdura, Edgard, García-Arumí, Elena, Castellanos, Elisabeth, Gabau, Elisabeth, Tobías, Ester, López-Grondona, Fermina, Cardellach, Francesc, Garcia-Garcia, Francesc Josep, Munell, Francina, Tort, Frederic, Aznar, Gemma, Olivé-Cirera, Gemma, Tell, Gemma, Muñoz-Pujol, Gerard, Paramonov, Ida, Blanco, Ignacio, Madrigal, Irene, Valenzuela, Irene, Gut, Ivo, Cusco, Ivon, Trotta, Jean-Rémi, Cruz, Jordi, Díaz-Manera, Jordi, Milisenda, José César, a<%2Fce%3Asup>+Grau%2C+Josep%22">Mhttp://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123773786.0x000001&indx=1&recIds=ETOCvdc_100123773786.0x000001

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Authors: Castellanos, Elisabeth, Rosas, Inma, Negro, Alex, Gel, Bernat, Alibés, Andreu, Baena, Neus, Pineda, Mercè, Pi, Graciela, Pintos, Guillem, Salvador, Hector, Lázaro, Conxi, Blanco, Ignacio, Vilageliu, Lluïsa, Brems, Hilde, Grinberg, Daniel, Legius, Eric, Serra, Eduard

Source: Clinical genetics. 97(2):264-275

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149766241.0x000001&indx=1&recIds=ETOCvdc_100149766241.0x000001

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas

Authors: Carrió, Meritxell, Mazuelas, Helena, Richaud-Patin, Yvonne, Gel, Bernat, Terribas, Ernest, Rosas, Imma, Jimenez-Delgado, Senda, Biayna, Josep, Vendredy, Leen, Blanco, Ignacio, Castellanos, Elisabeth, Lázaro, Conxi, Raya, Ángel, Serra, Eduard

Source: In Stem Cell Reports 12 February 2019 12(2):411-426

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

Authors: Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat

Source: Bioinformatics. 37(22):4227-4229

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161628298.0x000001&indx=1&recIds=ETOCvdc_100161628298.0x000001

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

Authors: Castellanos, Elisabeth, Plana, Adrià, Carrato, Cristina

Source: JAMA Dermatology. 154(3):341-346

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN633142085&indx=1&recIds=ETOCRN633142085

The vestibular calyceal junction is dismantled following subchronic streptomycin in rats and sensory epithelium stress in humans.

Authors: Maroto, Alberto F., Borrajo, Mireia, Prades, Sílvia, Callejo, Àngela, Amilibia, Emilio, Pérez-Grau, Marta, Roca-Ribas, Francesc, Castellanos, Elisabeth, Barrallo-Gimeno, Alejandro, Llorens, Jordi

Source: Archives of Toxicology; Jul2023, Vol. 97 Issue 7, p1943-1961, 19p

Subject Terms: STREPTOMYCIN, HAIR cells, RATS, PSYCHOLOGICAL stress, EPITHELIUM, VESTIBULAR apparatus

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Authors: Garcia, Belen, Catasus, Nuria, Ros, Andrea, Rosas, Inma, Negro, Alejandro, Guerrero-Murillo, Mercedes, Valero, Ana Maria, Duat-Rodriguez, Anna, Becerra, Juan Luis, Bonache, Sandra, Garcia, Conxi Lázaro, Comas, Carmina, Bielsa, Isabel, Serra, Eduard, Hernández-Chico, Concepción, Martin, Yolanda, Castellanos, Elisabeth, Blanco, Ignacio

Source: Journal of Medical Genetics; Oct2022, Vol. 59 Issue 10, p1-7, 7p

Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.

Authors: Catasús, Núria, Garcia, Belen, Galván-Femenía, Iván, Plana, Adrià, Negro, Alejandro, Rosas, Inma, Ros, Andrea, Amilibia, Emilio, Luis Becerra, Juan, Hostalot, Cristina, Rocaribas, Francesc, Bielsa, Isabel, Lazaro Garcia, Conxi, de Cid, Rafael, Serra, Eduard, Blanco, Ignacio, Castellanos, Elisabeth

Source: Journal of Medical Genetics; Jul2022, Vol. 59 Issue 7, p678-686, 33p

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Authors: Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, Rafael, Gallano, Pia, Garrabou, Glòria, González, Juan R., Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Milà, Montserrat, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A., Beltran, Sergi, Schlüter, Agatha, Rodriguez-Palmero, Agustí, Cáceres, Alejandro, Nascimento, Andrés, García-Cazorla, Àngels, Cueto-González, Anna, Marcé-Grau, Anna, Nel.lo, Anna Ruiz, Martínez-Monseny, Antonio, Sànchez, Aurora, García, Belén, Pérez-Dueñas, Belén, Gel, Bernat, Fusté, Berta, Hernández-Ferrer, Carles, Casasnovas, Carlos, Ortez, Carlos, Arjona, César, Hernando-Davalillo, Cristina, de Benito, Daniel Natera, Amador, Daniel Picó, Gómez-Andrés, David, Yubero, Dèlia, Pelegrí-Sisó, Dolors, Verdura, Edgard, García-Arumí, Elena, Castellanos, Elisabeth, Gabau, Elisabeth, Tobías, Ester, López-Grondona, Fermina, Cardellach, Francesc, Garcia-Garcia, Francesc Josep, Munell, Francina, Tort, Frederic, Aznar, Gemma, Olivé-Cirera, Gemma, Tell, Gemma, Muñoz-Pujol, Gerard, Paramonov, Ida, Blanco, Ignacio, Madrigal, Irene, Valenzuela, Irene, Gut, Ivo, Cusco, Ivon, Trotta, Jean-Rémi, Cruz, Jordi, Díaz-Manera, Jordi, Milisenda, José César, MaGrau, Josep, Garcia-Villoria, Judit, Armstrong, Judith, Cantó, Judith, Sala-Coromina, Júlia, Rodríguez-Revenga, Laia, Alias, Laura, Gort, Laura, González-Quereda, Lídia, Costa, Mar, Fernández-Callejo, Marcos, López-Sánchez, Marcos, Álvarez-Mora, Maria Isabel, Gut, Marta, Serrano, Mercedes, Raspall-Chaure, Miquel, Toro, Mireia del, Bayés, Mònica, Díez, Neus Baena, Spataro, Nino, Capdevila, Núria, Ugarteburu, Olatz, Muñoz-Cabello, Patricia, Duque, Penélope Romero, Rabionet, Raquel, Rojas-García, Ricard, Calvo, Rosa, Urreizti, Roser, Bernal, Sara, Boronat, Susana, Balcells, Susanna, Vendrell, Teresa

Source: The Journal of Molecular Diagnostics; May 2022, Vol. 24 Issue: 5 p529-542, 14p

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.

Authors: Castellanos, Elisabeth¹ ecastellanos@imppc.org, Bielsa, Isabel² ibielsa.germanstrias@gencat.cat, Carrato, Cristina³ ccarrato.germanstrias@gencat.cat, Rosas, Imma¹ IRosas@imppc.org, Solanes, Ares⁴ asolanes@iconcologia.net, Hostalot, Cristina⁵ crishp@gmail.com, Amilibia, Emilio⁶ emilioamilibia@gmail.com, Prades, José⁶ 22405jpm@comb.es, Roca-Ribas, Francesc⁶ rocaribas.germanstrias@gencat.cat, Lázaro, Conxi⁷ clazaro@iconcologia.net, Blanco, Ignacio⁸ iblanco.germanstrias@gencat.cat, Serra, Eduard¹ eserra@imppc.org

Source: BMC Medical Genomics. 2015, Vol. 8 Issue 1, p1-12. 12p.

Subject Terms: *DISEASES of the anatomical extremities, *NEUROFIBROMATOSIS, *ACOUSTIC neuroma, *CHROMOSOMES, *NUCLEOTIDE sequencing, *TUMORS

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Authors: Garcia, Belen, Catasus, Nuria, Ros, Andrea, Rosas, Inma, Negro, Alejandro, Guerrero-Murillo, Mercedes, Valero, Ana Maria, Duat-Rodriguez, Anna, Becerra, Juan Luis, Bonache, Sandra, Lázaro Garcia, Conxi, Comas, Carmina, Bielsa, Isabel, Serra, Eduard, Hernández-Chico, Concepción, Martin, Yolanda, Castellanos, Elisabeth, Blanco, Ignacio

Source: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 10 p1017-1023, 7p