Simpson-Golabi-Behmel syndrome types I and II

door Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo
Gepubliceerd in Orphanet J Rare Dis (2014)

Keratoconus associated with Williams-Beuren syndrome: a new case report

door Mediero, Soraya, D'Anna Mardero, Oriana, Boto de los Bueis, Ana, Noval Martín, Susana, García-Miñaur, Sixto
Gepubliceerd in Int J Ophthalmol (2017)

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

door López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena
Gepubliceerd in BMC Med Genet (2018)

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

door Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Gepubliceerd in Genes (Basel) (2021)

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

door Sánchez-Montenegro, Carlos, Vilanova-Sánchez, Alejandra, Barrena-Delfa, Saturnino, Tenorio, Jair, Santos-Simarro, Fernando, García-Miñaur, Sixto, Lapunzina, Pablo, Martínez-Martínez, Leopoldo
Gepubliceerd in Case Rep Genet (2017)

Wilms tumor in patients with osteopathia striata with cranial sclerosis

door Bach, Alicia, Mi, Jingyi, Hunter, Matthew, Halliday, Benjamin J., García-Miñaúr, Sixto, Sperotto, Francesca, Trevisson, Eva, Markie, David, Morison, Ian M., Shinawi, Marwan, Willis, Daniel N., Robertson, Stephen P.
Gepubliceerd in Eur J Hum Genet (2020)

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

door de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G
Gepubliceerd in 2014

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

door Fernández, Luis, Nevado, Julián, Santos, Fernando, Heine-Suñer, Damià, Martinez-Glez, Victor, García-Miñaur, Sixto, Palomo, Rebeca, Delicado, Alicia, Pajares, Isidora López, Palomares, María, García-Guereta, Luis, Valverde, Eva, Hawkins, Federico, Lapunzina, Pablo
Gepubliceerd in 2009

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

door Romanelli, Valeria, Meneses, Heloisa N M, Fernández, Luis, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, F Fraga, Mario, Guillén, Encarna, Nevado, Julián, Gean, Esther, Martorell, Loreto, Marfil, Victoria Esteban, García-Miñaur, Sixto, Lapunzina, Pablo
Gepubliceerd in 2011

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

door Pérez‐Grijalba, Virginia, García‐Oguiza, Alberto, López, María, Armstrong, Judith, García‐Miñaur, Sixto, Mesa‐Latorre, Jose María, O'Callaghan, Mar, Pineda Marfa, Mercé, Ramos‐Arroyo, Maria Antonia, Santos‐Simarro, Fernando, Seidel, Verónica, Domínguez‐Garrido, Elena
Gepubliceerd in Mol Genet Genomic Med (2019)

Toward the effective surveillance of hypospadias.

door Dolk, Helen, Vrijheid, Martine, Scott, John E S, Addor, Marie-Claude, Botting, Bev, de Vigan, Catherine, de Walle, Hermien, Garne, Ester, Loane, Maria, Pierini, Anna, Garcia-Minaur, Sixto, Physick, Nigel, Tenconi, Romano, Wiesel, Awi, Calzolari, Elisa, Stone, David
Gepubliceerd in 2004

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

door Blackburn, Patrick R., Zepeda-Mendoza, Cinthya J., Kruisselbrink, Teresa M., Schimmenti, Lisa A., García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A., Le Meur, Guylène, Klee, Eric W., Le Caignec, Cédric, Lapunzina, Pablo, Isidor, Bertrand, Babovic-Vuksanovic, Dusica
Gepubliceerd in Eur J Hum Genet (2019)

New microdeletion and microduplication syndromes: A comprehensive review

door Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo
Gepubliceerd in 2014

Mutations in HPSE2 Cause Urofacial Syndrome

door Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.
Gepubliceerd in 2010

Mutations in HPSE2 Cause Urofacial Syndrome

door Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.
Gepubliceerd in 2010

Practical guidelines for managing adults with 22q11.2 deletion syndrome

door Fung, Wai Lun Alan, Butcher, Nancy J., Costain, Gregory, Andrade, Danielle M., Boot, Erik, Chow, Eva W.C., Chung, Brian, Cytrynbaum, Cheryl, Faghfoury, Hanna, Fishman, Leona, García-Miñaúr, Sixto, George, Susan, Lang, Anthony E., Repetto, Gabriela, Shugar, Andrea, Silversides, Candice, Swillen, Ann, van Amelsvoort, Therese, McDonald-McGinn, Donna M., Bassett, Anne S.
Gepubliceerd in Genet Med (2015)

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

door 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
Gepubliceerd in Eur J Hum Genet (2015)

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

door Leiter, Sarah M, Parker, Victoria E R, Welters, Alena, Knox, Rachel, Rocha, Nuno, Clark, Graeme, Payne, Felicity, Lotta, Luca, Harris, Julie, Guerrero-Fernández, Julio, González-Casado, Isabel, García-Miñaur, Sixto, Gordo, Gema, Wareham, Nick, Martínez-Glez, Víctor, Allison, Michael, O’Rahilly, Stephen, Barroso, Inês, Meissner, Thomas, Davies, Susan, Hussain, Khalid, Temple, Karen, Barreda-Bonis, Ana-Coral, Kummer, Sebastian, Semple, Robert K
Gepubliceerd in Eur J Endocrinol (2017)

Genotype and phenotype spectrum of NRAS germline variants

door Altmüller, Franziska, Lissewski, Christina, Bertola, Debora, Flex, Elisabetta, Stark, Zornitza, Spranger, Stephanie, Baynam, Gareth, Buscarilli, Michelle, Dyack, Sarah, Gillis, Jane, Yntema, Helger G, Pantaleoni, Francesca, van Loon, Rosa LE, MacKay, Sara, Mina, Kym, Schanze, Ina, Tan, Tiong Yang, Walsh, Maie, White, Susan M, Niewisch, Marena R, García-Miñaúr, Sixto, Plaza, Diego, Ahmadian, Mohammad Reza, Cavé, Hélène, Tartaglia, Marco, Zenker, Martin
Gepubliceerd in Eur J Hum Genet (2017)

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

door Reinstein, Eyal, Frentz, Sophia, Morgan, Tim, García-Miñaúr, Sixto, Leventer, Richard J, McGillivray, George, Pariani, Mitchel, van der Steen, Anthony, Pope, Michael, Holder-Espinasse, Muriel, Scott, Richard, Thompson, Elizabeth M, Robertson, Terry, Coppin, Brian, Siegel, Robert, Bret Zurita, Montserrat, Rodríguez, Jose I, Morales, Carmen, Rodrigues, Yuri, Arcas, Joaquín, Saggar, Anand, Horton, Margaret, Zackai, Elaine, Graham, John M, Rimoin, David L, Robertson, Stephen P
Gepubliceerd in 2013