Search Results - "Faundes, Victor"

A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants by Krall, Paola, Faundes, Víctor, Gálvez, Carla, Cavagnaro, Felipe

“…Background Nephrocalcinosis (NC) is characterized by an excessive accumulation of calcium deposits in the kidneys. In children, it is often incidentally…”
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A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population by Faundes, Víctor, Malone, Geraldine, Newman, William G, Banka, Siddharth

“…Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed…”
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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile by Poli, M. Cecilia, Rebolledo-Jaramillo, Boris, Lagos, Catalina, Orellana, Joan, Moreno, Gabriela, Martín, Luz M., Encina, Gonzalo, Böhme, Daniela, Faundes, Víctor, Zavala, M. Jesús, Hasbún, Trinidad, Fischer, Sara, Brito, Florencia, Araya, Diego, Lira, Manuel, de la Cruz, Javiera, Astudillo, Camila, Lay-Son, Guillermo, Cares, Carolina, Aracena, Mariana, Martin, Esteban San, Coban-Akdemir, Zeynep, Posey, Jennifer E., Lupski, James R., Repetto, Gabriela M.

“…Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings,…”
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Raine syndrome: An overview by Faundes, Víctor, Castillo-Taucher, Silvia, Gonzalez-Hormazabal, Patricio, Chandler, Kate, Crosby, Andrew, Chioza, Barry

“…Abstract Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain…”
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Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile by Medina, María Fernanda, Castro, Gabriela, Falcon, Felipe, Cabello, Juan Francisco, Faundes, Víctor, Ruffato, Diana, Salazar, María Florencia, Arias, Carolina, Peñaloza, Felipe, De La Parra, Alicia, Cornejo, Verónica

“…Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched‐chain alpha ketoacid dehydrogenase…”
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Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee by Adams, David R., van Karnebeek, Clara D.M., Agulló, Sergi Beltran, Faùndes, Víctor, Jamuar, Saumya Shekhar, Lynch, Sally Ann, Pintos-Morell, Guillem, Puri, Ratna Dua, Shai, Ruty, Steward, Charles A., Tumiene, Biruté, Verloes, Alain

“…The International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee (DSC) is charged with discussion and contribution to progress on…”
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FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome by Baker, Emma K., Arpone, Marta, Kraan, Claudine, Bui, Minh, Rogers, Carolyn, Field, Michael, Bretherton, Lesley, Ling, Ling, Ure, Alexandra, Cohen, Jonathan, Hunter, Matthew F., Santa María, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David J., Godler, David E.

“…Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein…”
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Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome by Ramond, Francis, Dalgliesh, Caroline, Grimmel, Mona, Wechsberg, Oded, Vetro, Annalisa, Guerrini, Renzo, FitzPatrick, David, Poole, Rebecca L., Lebrun, Marine, Bayat, Allan, Grasshoff, Ute, Bertrand, Miriam, Witt, Dennis, Turnpenny, Peter D., Faundes, Víctor, Santa María, Lorena, Mendoza Fuentes, Carolina, Mabe, Paulina, Hussain, Shaun A., Mullegama, Sureni V., Torti, Erin, Oehl-Jaschkowitz, Barbara, Salmon, Lina Basel, Orenstein, Naama, Shahar, Noa Ruhrman, Hagari, Ofir, Bazak, Lily, Hoffjan, Sabine, Prada, Carlos E., Haack, Tobias, Elliott, David J.

“…Transformer2 proteins (Tra2α and Tra2β) control splicing patterns in human cells, and no human phenotypes have been associated with germline variants in these…”
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Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome by Baker, Emma K., Arpone, Marta, Bui, Minh, Kraan, Claudine M., Ling, Ling, Francis, David, Hunter, Mathew F., Rogers, Carolyn, Field, Michael J., Santa María, Lorena, Faundes, Víctor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.

“…Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and…”
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Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis by Aliaga, Solange M, Slater, Howard R, Francis, David, Du Sart, Desiree, Li, Xin, Amor, David J, Alliende, Angelica M, Santa Maria, Lorena, Faundes, Víctor, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Curotto, Bianca, Godler, David E

“…FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard…”
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Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile by Cárdenas, José Miguel, Vergara, Diane, Witting, Scarlet, Balut, Fernanda, Guerra, Patricio, Mesa, José Tomás, Silva, Sebastián, Tello, Javiera, Retamales, Alvaro, Barrios, Andrés, Pinto, Fernando, Faundes, Víctor, Troncoso, Mónica

“…Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the GALNS gene,…”
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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome by Baker, Emma K, Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M, Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael J, Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E

“…Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full…”
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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome by Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features by Baker, Emma K, Arpone, Marta, Aliaga, Solange M, Bretherton, Lesley, Kraan, Claudine M, Bui, Minh, Slater, Howard R, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E

“…Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the 1 product (FMRP),…”
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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome by Cuvertino Sara, Hartill Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali Lihadh, Canham, Natalie, Faundes Victor, Flinter Frances, Hertecant Jozef, Holder-Espinasse Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat Fatima, Narasimhan, Vagheesh M, Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel David, Venuto Santina, Weisberg, Daniel, Stals, Karen, Ellard Sian, Barton, Anne, Kimber, Susan J, Sheridan, Eamonn, Merla Giuseppe, Stevens, Adam, Johnson, Colin A, Banka Siddharth

“…PurposeTo investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1).MethodsMultiple…”
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Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities by Faundes, Víctor, Santa María, Lorena, Morales, Paulina, Curotto, Bianca, Alliende, María Angélica

“…In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal…”
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Genetics of congenital deafness by Faundes, Víctor, Pardo, Rosa Andrea, Castillo Taucher, Silvia

“…Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor…”
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Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: Lessons for genetic counseling by Faundes, Víctor, María, Lorena Santa, Aliaga, Solange, Curotto, Bianca, Pugin, Angela, Alliende, María Angélica

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Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations by Santa María, Lorena, Faundes, Víctor, Curotto, Bianca, Morales, Paulina, Morales, Karla, Aliaga, Solange, Pugin, Ángela, Alliende, María Angélica

“…Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients…”
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Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation by Faundes, Víctor, Santa María, Lorena, Morales, Paulina, Curotto, Bianca, Parraguez, María M.

“…Chromosome 7q11.23 duplication syndrome is a well-recognised syndrome which involves the duplication of the same genes located in the Williams-Beuren critical…”
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