Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia von Prenen, Jean, Owsianik, Grzegorz, Voets, Thomas, Funari, Tara L, Nelson, Stanley F, Lachman, Ralph S, Merriman, Barry, Reyno, Soraya, Vaglio, Alicia, Cohn, Daniel H, Funari, Vincent A, Rock, Matthew J, Rimoin, David L, Nilius, Bernd, Nagai, Toshiro, Janssens, Annelies, Wilcox, William R, Quadrelli, Roberto, Ikegawa, Shiro

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Different TBX5 Interactions in Heart and Limb Defined by Holt-Oram Syndrome Mutations von Basson, Craig T., Huang, Taosheng, Lin, Robert C., Bachinsky, David R., Weremowicz, Stanislawa, Vaglio, Alicia, Bruzzone, Rina, Quadrelli, Roberto, Lerone, Margherita, Romeo, Giovanni, Silengo, Margherita, Pereira, Alexandre, Krieger, Jose, Mesouita, Sonia F., Kamisago, Mitsuhiro, Morton, Cynthia C., Mary Ella M. Pierpont, Müller, Chistoph W., Seidman, J. G., Seidman, Christine E.

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Chromosome 7 Isodisomy in a Child with Silver-Russell Síndrome von Méndez-Rosado, Luis A., Vaglio, Alicia, Lardoeyt- Ferrer, Roberto, Candimba-Sebastiao, Albertino, Pupo-Balboa, Judith, Iourov, Ivan Y., Esperon, Alejandro

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Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease von Spangenberg, Lucía, Graña, Martín, Mansilla, Santiago, Martínez, Jennyfer, Tapié, Alejandra, Greif, Gonzalo, Montano, Nélida, Vaglio, Alicia, Gueçaimburú, Rosario, Robello, Carlos, Castro, Laura, Quijano, Celia, Raggio, Victor, Naya, Hugo

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Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region von Strehle, Eugen-Matthias, Yu, Linbo, Rosenfeld, Jill A., Donkervoort, Sandra, Zhou, Yulin, Chen, Tian-Jian, Martinez, Jose E., Fan, Yao-Shan, Barbouth, Deborah, Zhu, Hongbo, Vaglio, Alicia, Smith, Rosemarie, Stevens, Cathy A., Curry, Cynthia J., Ladda, Roger L., Fan, Zheng (Jane), Fox, Joyce E., Martin, Judith A., Abdel-Hamid, Hoda Z., McCracken, Elizabeth A., McGillivray, Barbara C., Masser-Frye, Diane, Huang, Taosheng

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Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death von Xue, Yuan, Schoser, Benedikt, Rao, Aliz R, Quadrelli, Roberto, Vaglio, Alicia, Rupp, Verena, Beichler, Christine, Nelson, Stanley F, Schapacher-Tilp, Gudrun, Windpassinger, Christian, Wilcox, William R

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Parental decisions to abort or continue a pregnancy following prenatal diagnosis of chromosomal abnormalities in a setting where termination of pregnancy is not legally available von Quadrelli, Roberto, Quadrelli, Andrea, Mechoso, Búrix, Laufer, Mauricio, Jaumandreu, Ciro, Vaglio, Alicia

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Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America von Méndez-Rosado, Luis A, Quiñones-Masa, Olga, Vaglio, Alicia, Quadrelli, Roberto, Sanchez-Peñarate, Diana, Soriano-Torres, Michel, Cerrillo-Hinojosa, Mabel, Escobedo-Aguirre, Fernando, Gutiérrez-Nájar, Alfonso, Venegas-Barbosa, Patricia, Barrios-Martinez, Anduriña, Echavarría-Estenoz, Dulce, Carbonell-de la Torre, Pedro, Pimentel-Benitez, Héctor I, González-Salé, Orlando, Hernádez-Gil, José, de la Torre-Santos, Maria Elena, Alonso-García, Yamile, Cedeño-Aparicio, Niurka, Torriani-Mendoza, Patricia, Morales-Rodríguez, Enny, Martín-García, Diana, Cuétara-Lugo, Elizabeth, González-Domínguez, Niurka

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Antenatal Diagnosis of De Novo Balanced Structural Chromosomal Aberrations in Latin America von Méndez-Rosado, Luis A., Quiñones-Maza, Olga, Vaglio, Alicia, Quadrelli, Roberto, Sánchez-Peñarate, Diana, Soriano-Torres, Michel, Cerrillo-Hinojosa, Mabel, Escobedo-Aguirre, Fernando, Gutiérrez-Nájar, Alfonso, Venegas-Barbosa, Patricia, Barrios-Martínez, Anduriña, Hechavarría-Estenoz, Dulce, Carbonell-de la Torre, Pedro, Pimentel-Benítez, Hector I., González-Salé, Orlando, Hernández-Gil, José, de la Torre-Santos, María Elena, Alonso-García, Yamilé, Cedeño-Aparicio, Niurka, Torriani-Mendoza, Patricia, Morales-Rodríguez, Enny, Martín-García, Diana, Cuétara-Lugo, Elizabeth, González-Domínguez, Niurka, Hu, Peter

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Atrofia muscular espinal y bulbar von Mariana Moraes, Judith Calvo, Nélida Montano, Ximena Rodríguez, Roberto Quadrelli, Alicia Vaglio

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Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a death newborn and identification of a new mutation in the exon 29 of the CHD7 gene von Montano, Nélida, Quadrelli, Andrea, Milunsky, Aubrey, Vaglio, Alicia, Quadrelli, Roberto

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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia von Rock, Matthew J, Prenen, Jean, Funari, Vincent A, Funari, Tara L, Merriman, Barry, Nelson, Stanley F, Lachman, Ralph S, Wilcox, William R, Reyno, Soraya, Quadrelli, Roberto, Vaglio, Alicia, Owsianik, Grzegorz, Janssens, Annelies, Voets, Thomas, Ikegawa, Shiro, Nagai, Toshiro, Rimoin, David L, Nilius, Bernd, Cohn, Daniel H

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Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo in... von Vaglio, Alicia, Milunsky, Aubrey, Quadrelli, Andrea, Huang, Xin-Li, Maher, Thomas, Mechoso, Búrix, Martínez, Susana, Pagano, Sinthia, Bellini, Sylvia, Costabel, Mariana, Quadrelli, Roberto

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A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter → 22ql2.1 : Clinical, cytogenetic and molecular obse... von VAGLIO, Alicia, MILUNSKY, Aubrey, HUANG, Xin-Li, QUADRELLI, Andrea, MECHOSO, Burix, MAHER, Thomas A, QUADRELLI, Roberto

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A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: Clinical, cytogenetic and molecular... von Vaglio, Alicia, Milunsky, Aubrey, Huang, Xin-Li, Quadrelli, Andrea, Mechoso, Búrix, Quadrelli, Roberto

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A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter → 22q12.1: Clinical, cytogenetic and molecular obser... von Vaglio, Alicia, Milunsky, Aubrey, Huang, Xin-Li, Quadrelli, Andrea, Mechoso, Búrix, Maher, Thomas A, Quadrelli, Roberto

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A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving ch... von Quadrelli, Roberto, Quadrelli, Andrea, Milunsky, Aubrey, Zou, Ying S, Huang, Xin-Li, Viera, Estela, Mechoso, Búrix, Bellini, Sylvia, Costabel, Mariana, Vaglio, Alicia

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A de novo Complex Chromosome Rearrangement Involving Chromosomes 2, 3, 5, 9 and 11 Detected Prenatally and Studied Postnatally by Conventional Cytogenetics and Molecular Cytogeneti... von Mechoso, Búrix, Vaglio, Alicia, Quadrelli, Andrea, Mark, Hon Fong L., Huang, Xin-Li, Milunsky, Aubrey, Quadrelli, Roberto

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Cole Disease: Hypopigmentation with Punctate Keratosis of the Palms and Soles von Vignale, Raúl, Yusín, Alejandra, Panuncio, Ana, Abulafia, Jorge, Reyno, Zoraya, Vaglio, Alicia

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Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita von Zhang, Yao-Hua, Huang, Bing-Ling, Anyane-Yeboa, Kwame, Carvalho, Julienne A.R., Clemons, Robert D., Cole, Trevor, De Figueiredo, Bonald C., Lubinsky, Mark, Metzger, Daniel L., Quadrelli, Roberto, Repaske, David R., Reyno, Soraya, Seaver, Laurie H., Vaglio, Alicia, Van Vliet, Guy, McCabe, Linda L., McCabe, Edward R.B., Phelan, James K.

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