Search Results - "Martinez‐Monseny, Antonio"

Okur‐Chung neurodevelopmental syndrome in a patient from Spain by Martinez‐Monseny, Antonio F., Casas‐Alba, Dídac, Arjona, César, Bolasell, Mercè, Casano, Paula, Muchart, Jordi, Ramos, Federico, Martorell, Loreto, Palau, Francesc, García‐Alix, Alfredo, Serrano, Mercedes

“…Okur‐Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by…”
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Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood by Ruiz-Llobet, Anna, Isola, Ignacio, Gassiot, Susanna, Català, Albert, Díaz-Ricart, Maribel, Martínez-Monseny, Antonio F, Serrano, Mercedes, Berrueco, Rubén

“…An underlying thrombocytopathy seems to be responsible for hemorrhagic symptoms in patients diagnosed with 22q11.2 deletion syndrome (22q11DS) or Noonan…”
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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features by Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo

“…Tenorio syndrome (TNORS) (OMIM #616260) is a relatively recent disorder with very few cases described so far. Clinical features included macrocephaly,…”
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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2 by Zarate, Yuri A., Bosanko, Katherine A., Thomas, Mary Ann, Miller, David T., Cusmano‐Ozog, Kristina, Martinez‐Monseny, Antonio, Curry, Cynthia J., Graham, John M., Velsher, Lea, Bekheirnia, Mir Reza, Seidel, Veronica, Dedousis, Demitrios, Mitchell, Anna L., DiMarino, Amy M., Riess, Angelika, Balasubramanian, Meena, Fish, Jennifer L., Caffrey, Aisling R., Fleischer, Nicole, Pierson, Tyler Mark, Lacro, Ronald V.

“…SATB2‐Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of…”
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Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study by Lourdes, Vega-Hanna, Mario, Sanz-Cuesta, Didac, Casas-Alba, Mercè, Bolasell, Loreto, Martorell, Leticia, Pías, Lucia, Feller Ana, Martínez-Monseny, Antonio Federico, Mercedes, Serrano

“…Sotos Syndrome (SS, OMIM#117550) is a heterogeneous genetic condition, recognized by three main clinical features present in most cases: overgrowth with…”
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) by Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F, Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes

“…We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia…”
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles by Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

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Unravelling short stature in pediatrics: the crucial role of genetic perspective by Martinez-Monseny, Antonio F

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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG) by Martínez‐Monseny, Antonio F., Bolasell, Mercè, Callejón‐Póo, Laura, Cuadras, Daniel, Freniche, Verónica, Itzep, Débora C., Gassiot, Susanna, Arango, Pedro, Casas‐Alba, Didac, Morena, Eugenia, Corral, Javier, Montero, Raquel, Pérez‐Cerdá, Celia, Pérez, Belén, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes, Velázquez‐Fragua, Ramón, García, Oscar, Gutierrez‐Solana, Luis G, Macaya, Alfons, Pérez‐Dueñas, Belén, Aguilera‐Albesa, Sergio, López, Laura, Miranda, Ma Concepción, Carratala, Francisco, Yoldi, M Eugenia, López‐Laso, Eduardo, Sierra‐Córcoles, Ma Concepción, Sebastián‐García, Irma, Aísa, Eduardo, Cancho‐Candela, Ramon, Carrasco‐Marina, M Llanos, Couce, María L., Roldán, Susana, Muchart, Jordi, Morales, Montserrat, Conde‐Lorenzo, Noemi

“…Objective Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2‐CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs…”
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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up by Altassan, Ruqaiah, Péanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena‐Barrio, María Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Grünewald, Stephanie, Hernández‐Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Martinez, Antonio F, Moravej, Hossein, Õunap, Katrin, Pascoal, Carlota, Pascreau, Tiffany, Patterson, Marc, Quelhas, Dulce, Raymond, Kimiyo, Sarkhail, Peymaneh, Schiff, Manuel, Seroczyńska, Małgorzata, Serrano, Mercedes, Seta, Nathalie, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Federic, Vals, Mari‐Anne, Videira, Paula, Witters, Peter, Zeevaert, Renate, Morava, Eva

“…Phosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation…”
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MECP2 -Related Disorders in Males by Pascual-Alonso, Ainhoa, Martínez-Monseny, Antonio F, Xiol, Clara, Armstrong, Judith

“…Methyl CpG binding protein 2 ( ) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in are associated with…”
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Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations by Casas‐Alba, Dídac, Martínez‐Monseny, Antonio, Pino‐Ramírez, Rosa M., Alsina, Laia, Castejón, Esperanza, Navarro‐Vilarrubí, Sergi, Pérez‐Dueñas, Belén, Serrano, Mercedes, Palau, Francesc, García‐Alix, Alfredo

“…Hyaline fibromatosis syndrome (HFS) is the unifying term for infantile systemic hyalinosis and juvenile hyaline fibromatosis. HFS is a rare autosomal recessive…”
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Mutation update for the SATB2 gene by Zarate, Yuri A., Bosanko, Katherine A., Caffrey, Aisling R., Bernstein, Jonathan A., Martin, Donna M., Williams, Marc S., Berry‐Kravis, Elizabeth M., Mark, Paul R., Manning, Melanie A., Bhambhani, Vikas, Vargas, Marcelo, Seeley, Andrea H., Estrada‐Veras, Juvianee I., Dooren, Marieke F., Schwab, Maria, Vanderver, Adeline, Melis, Daniela, Alsadah, Adnan, Sadler, Laurie, Esch, Hilde, Callewaert, Bert, Oostra, Ann, Maclean, Jane, Dentici, Maria Lisa, Orlando, Valeria, Lipson, Mark, Sparagana, Steven P., Maarup, Timothy J., Alsters, Suzanne IM, Brautbar, Ariel, Kovitch, Eliana, Naidu, Sakkubai, Lees, Melissa, Smith, Douglas M., Turner, Lesley, Raggio, Víctor, Spangenberg, Lucía, Garcia‐Miñaúr, Sixto, Roeder, Elizabeth R., Littlejohn, Rebecca O., Grange, Dorothy, Pfotenhauer, Jean, Jones, Marilyn C., Balasubramanian, Meena, Martinez‐Monseny, Antonio, Blok, Lot Snijders, Gavrilova, Ralitza, Fish, Jennifer L.

“…SATB2‐associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of…”
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Molecular characterization of Spanish patients with MECP2 duplication syndrome by Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith

“…MECP2 duplication syndrome (MDS) is an X‐linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset…”
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CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings by Martínez-Monseny, Antonio F., Edo, Albert, Casas-Alba, Dídac, Izquierdo-Serra, Mercè, Bolasell, Mercè, Conejo, David, Martorell, Loreto, Muchart, Jordi, Carrera, Laura, Ortez, Carlos I., Nascimento, Andrés, Oliva, Baldo, Fernández-Fernández, José M., Serrano, Mercedes

“…The CACNA1A gene encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 Ca2+ channel, essential in neurotransmission, especially in Purkinje cells…”
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review by Palma-Milla, Carmen, Prat-Planas, Aina, Soengas-Gonda, Emma, Centeno-Pla, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg, Daniel, Balcells, Susanna, Serrano, Mercedes, Rabionet, Raquel, Martin, Miguel A., Urreizti, Roser

“…TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline…”
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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies by Brooks, Daniel, Burke, Elizabeth, Lee, Sukyeong, Eble, Tanya N., O’Leary, Melanie, Osei-Owusu, Ikeoluwa, Rehm, Heidi L., Dhar, Shweta U., Emrick, Lisa, Bick, David, Nehrebecky, Michelle, Macnamara, Ellen, Casas-Alba, Dídac, Armstrong, Judith, Prat, Carolina, Martínez-Monseny, Antonio F., Palau, Francesc, Liu, Pengfei, Adams, David, Lalani, Seema, Rosenfeld, Jill A., Burrage, Lindsay C.

“…Biallelic pathogenic variants in MAP3K20 , which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing…”
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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy by Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F, López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G, Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M, Serrano, Mercedes

“…Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic…”
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Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review by Casas‐Alba, Dídac, López‐Sala, Laura, Pérez‐Ordóñez, Marta, Mari‐Vico, Rosanna, Bolasell, Mercè, Martínez‐Monseny, Antonio F., Muchart, Jordi, Fernández‐Fernández, José M., Martorell, Loreto, Serrano, Mercedes

“…Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND, MIM#604065) is an ultrarare autosomal dominant syndrome related to de…”
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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum by Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O'Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna

“…Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by…”
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