Search Results - "Paumard, Beatriz"

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families by Calvete, Oriol, Martinez, Paula, Garcia-Pavia, Pablo, Benitez-Buelga, Carlos, Paumard-Hernández, Beatriz, Fernandez, Victoria, Dominguez, Fernando, Salas, Clara, Romero-Laorden, Nuria, Garcia-Donas, Jesus, Carrillo, Jaime, Perona, Rosario, Triviño, Juan Carlos, Andrés, Raquel, Cano, Juana María, Rivera, Bárbara, Alonso-Pulpon, Luis, Setien, Fernando, Esteller, Manel, Rodriguez-Perales, Sandra, Bougeard, Gaelle, Frebourg, Tierry, Urioste, Miguel, Blasco, Maria A., Benítez, Javier

“…Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53 -negative…”
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Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer by Paumard‐Hernández, Beatriz, Calvete, Oriol, Inglada Pérez, Lucia, Tejero, Héctor, Al‐Shahrour, Fátima, Pita, Guillermo, Barroso, Alicia, Carlos Triviño, Juan, Urioste, Miguel, Valverde, Claudia, González Billalabeitia, Enrique, Quiroga, Vanesa, Francisco Rodríguez Moreno, Juan, Fernández Aramburo, Antonio, López, Cristina, Maroto, Pablo, Sastre, Javier, José Juan Fita, María, Duran, Ignacio, Lorenzo‐Lorenzo, Isabel, Iranzo, Patricia, García del Muro, Xavier, Ros, Silverio, Zambrana, Francisco, María Autran, Ana, Benítez, Javier

“…Testicular germ cell tumors (TGCTs) are a clinically and pathologically heterogeneous disease, and little is known of its genetic basis. Only low…”
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Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour by Calvete, Oriol, Reyes, Jose, Zuñiga, Sheila, Paumard-Hernández, Beatriz, Fernández, Victoria, Bujanda, Luís, Rodriguez-Pinilla, María S, Palacios, Jose, Heine-Suñer, Damian, Banka, Siddharth, Newman, William G, Cañamero, Marta, Pritchard, D Mark, Benítez, Javier

“…Gastric neuroendocrine tumours (NETs) arise from enterochromaffin-like cells, which are located in oxyntic glands within the stomach. Type I tumours represent…”
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Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants by Paumard-Hernández, Beatriz, Berges-Soria, Julia, Barroso, Eva, Rivera-Pedroza, Carlos I, Pérez-Carrizosa, Virginia, Benito-Sanz, Sara, López-Messa, Eva, Santos, Fernando, García-Recuero, Ignacio I, Romance, Ana, Ballesta-Martínez, Juliana María, López-González, Vanesa, Campos-Barros, Ángel, Cruz, Jaime, Guillén-Navarro, Encarna, Sánchez Del Pozo, Jaime, Lapunzina, Pablo, García-Miñaur, Sixto, Heath, Karen E

“…Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into non-syndromic or syndromic and by which sutures…”
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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features by Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.

“…PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2…”
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Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer by Benito-Sanz, Sara, Royo, Jose Luis, Barroso, Eva, Paumard-Hernández, Beatriz, Barreda-Bonis, Ana C, Liu, Pengfei, Gracía, Ricardo, Lupski, James R, Campos-Barros, Ángel, Gómez-Skarmeta, José Luis, Heath, Karen Elise

“…SHOX, located in the pseudoautosomal region 1 (PAR1) of the sexual chromosomes, encodes a transcription factor implicated in human growth. Defects in SHOX or…”
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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features by Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.

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Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature by Rivera-Pedroza, Carlos I., Barraza-García, Jimena, Paumard-Hernández, Beatriz, Nevado, Julian, Orbea-Gallardo, Carlos, Sánchez del Pozo, Jaime, Heath, Karen E.

“…Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with…”
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Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes by Gayarre, Javier, Martín-Gimeno, Paloma, Osorio, Ana, Paumard, Beatriz, Barroso, Alicia, Fernández, Victoria, de la Hoya, Miguel, Rojo, Alejandro, Caldés, Trinidad, Palacios, José, Urioste, Miguel, Benítez, Javier, García, María J

“…Background: Despite a high prevalence of deleterious missense variants, most studies of RAD51C ovarian cancer susceptibility gene only provide in silico…”
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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in ICHD3/I and Literature Review by Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J, Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M, Gowda, Vykuntaraju K, Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Ma, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Conso, Nevado, Julián, Lapunzina, Pablo

“…Snijders Blok–Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to…”
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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review by Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J., Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Martin Mesa, Carmen, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Consortium, The SOGRI, Nevado, Julián, Lapunzina, Pablo

“…Snijders Blok–Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to…”
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Abstract 5446: Genetic bases of testicular seminoma and non-seminoma tumors by Martin-Gimeno, Paloma, Paumard-Hernandez, Beatriz, Calvete, Oriol, Benitez, Javier

“…Abstract Testicular Germ Cell Tumor (TGCT) is the most common cancer type in men between 15-45 years old (1 per 250 men). Around 1-2% of all cases are familial…”
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Impact of the Identification of Nonhuman Genetic Signatures in the Diagnosis and Management of Carcinoma of Unknown Primary by Barquín García, Arantzazu, Palacios-Zambrano, Sara, Lozano Alarcón, Felipe, Paumard-Hernández, Beatriz, Quiralte Pulido, Miguel, Navarro, Paloma, Rodríguez, Laura, Salas Villar, Isabel, García-Donas, Jesús

“…This report presents the case of a 62-year-old woman who was diagnosed in 1999 with stage I cervical carcinoma treated by surgical resection. In 2021, she…”
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A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families by Calvete, Oriol, Martinez, Paula, Garcia Pavia, Pablo, Benitez Buelga, Carlos, Paumard Hernández, Beatriz, Fernandez, Victoria, Dominguez, Fernando, Salas, Clara, Romero Laorden, Nuria, Garcia Donas, Jesus, Carrillo, Jaime, Perona, Rosario, Triviño, Juan Carlos, Andrés, Raquel, Cano, Juana María, Rivera, Bárbara, Alonso Pulpon, Luis, Setién, Fernando, Esteller, Manel, Rodriguez Perales, Sandra, Bougeard, Gaelle, Frebourg, Tierry, Urioste, Miguel, Blasco, Maria A, Benitez, Javier

“…Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53-negative…”
Get full text