Works matching AU Santos-Simarro, Fernando

Results: 47
    1

    Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5003, doi. 10.3390/jcm12155003
    By:
    • Carcavilla, Atilano;
    • Cambra, Ana;
    • Santomé, José L.;
    • Seidel, Verónica;
    • Cruz, Jaime;
    • Alonso, Milagros;
    • Pozo, Jesús;
    • Valenzuela, Irene;
    • Guillén-Navarro, Encarna;
    • Santos-Simarro, Fernando;
    • González-Casado, Isabel;
    • Rodríguez, Amparo;
    • Medrano, Constancio;
    • López-Siguero, Juan Pedro;
    • Ezquieta, Begoña
    Publication type:
    Article
    2

    Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63830
    By:
    • Ventayol‐Guirado, Marc;
    • Torres, Laura;
    • Asensio‐Landa, Victor;
    • Pérez‐Granero, Ángeles;
    • Madrid, Maria Isabel;
    • Hernandez‐Rodriguez, Jessica;
    • Llull‐Alberti, Maria Victoria;
    • Lumbreras, Javier;
    • Escribà, Silvia;
    • Pons, Monserrat;
    • Roldan, Jordi;
    • Martínez‐López, Iciar;
    • Heine‐Suñer, Damian;
    • Santos‐Simarro, Fernando
    Publication type:
    Article
    3

    A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994
    By:
    • Álvarez, Luis Francisco González;
    • Tenorio‐Castaño, Jair;
    • Poletta, Fernando A.;
    • Santos‐Simarro, Fernando;
    • Arias, Pedro;
    • Gallego, Natalia;
    • Orioli, Iêda Maria;
    • Mundlos, Stefan;
    • Castilla, Eduardo E.;
    • Martínez‐Glez, Víctor;
    • Martínez‐Frías, María Luisa;
    • Ruiz‐Pérez, Víctor L.;
    • Nevado, Julián;
    • Lapunzina, Pablo
    Publication type:
    Article
    4

    Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2819, doi. 10.1002/ajmg.a.62883
    By:
    • Pacio‐Miguez, Marta;
    • Parrón‐Pajares, Manuel;
    • Gordon, Christopher T.;
    • Santos‐Simarro, Fernando;
    • Rodríguez Jiménez, Carmen;
    • Mena, Rocio;
    • Rueda Arenas, Inmaculada;
    • F. Montaño, Victoria Eugenia;
    • Fernández, María;
    • Solís, Mario;
    • del Pozo, Ángela;
    • Amiel, Jeanne;
    • García‐Miñaur, Sixto;
    • Palomares‐Bralo, María
    Publication type:
    Article
    5

    Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
    By:
    • O'Grady, Lauren;
    • Schrier Vergano, Samantha A.;
    • Hoffman, Trevor L.;
    • Sarco, Dean;
    • Cherny, Sara;
    • Bryant, Emily;
    • Schultz‐Rogers, Laura;
    • Chung, Wendy K.;
    • Sacharow, Stephanie;
    • Immken, Ladonna L.;
    • Holder, Susan;
    • Blackwell, Rebecca R.;
    • Buchanan, Catherine;
    • Yusupov, Roman;
    • Lecoquierre, François;
    • Guerrot, Anne‐Marie;
    • Rodan, Lance;
    • de Vries, Bert B. A.;
    • Kamsteeg, Erik Jan;
    • Santos Simarro, Fernando
    Publication type:
    Article
    6
    7

    Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 2, p. 140, doi. 10.1111/cge.14440
    By:
    • Parra, Alejandro;
    • Pascual, Patricia;
    • Cazalla, Mario;
    • Arias, Pedro;
    • Gallego‐Zazo, Natalia;
    • San‐Martín, Esteban A.;
    • Silván, Cristina;
    • Santos‐Simarro, Fernando;
    • Plasencia, Antonio;
    • Rosa, Alberto L.;
    • Blanquer, Aleixandre;
    • Garcı'a‐Alix, Alfredo;
    • Santana, Alfredo;
    • Delicado, Alicia;
    • Alonso, Almudena;
    • Rodriguez, Amaya;
    • Sanchis, Amparo;
    • Moreno, Ana;
    • Gar‐cía, Ana Patiño;
    • Vega, Ana
    Publication type:
    Article
    8

    Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 1, p. 100, doi. 10.1111/cge.14351
    By:
    • Díaz‐González, Francisca;
    • Parrón‐Pajares, Manuel;
    • Lucas‐Castro, Elsa;
    • Modamio‐Høybjør, Silvia;
    • Sentchordi‐Montané, Lucia;
    • Seidel, Verónica;
    • Prieto, Pablo;
    • Tarraso‐Urios, Guillermo;
    • Codina‐Sola, Marta;
    • Cueto‐González, Anna M.;
    • Ballesta‐Martínez, Mary J.;
    • Santos‐Simarro, Fernando;
    • Sousa, Sergio B.;
    • Heath, Karen E.
    Publication type:
    Article
    9

    Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 405, doi. 10.1111/cge.14020
    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.
    Publication type:
    Article
    10

    MAGEL2‐related disorders: A study and case series.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 6, p. 493, doi. 10.1111/cge.13620
    By:
    • Patak, Jameson;
    • Gilfert, James;
    • Byler, Melissa;
    • Neerukonda, Vamsee;
    • Thiffault, Isabelle;
    • Cross, Laura;
    • Amudhavalli, Shivarajan;
    • Pacio‐Miguez, Marta;
    • Palomares‐Bralo, Maria;
    • Garcia‐Minaur, Sixto;
    • Santos‐Simarro, Fernando;
    • Powis, Zoe;
    • Alcaraz, Wendy;
    • Tang, Sha;
    • Jurgens, Julie;
    • Barry, Brenda;
    • England, Eleina;
    • Engle, Elizabeth;
    • Hess, Jonathon;
    • Lebel, Robert R.
    Publication type:
    Article
    11

    Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532
    By:
    • Angius, Andrea;
    • Uva, Paolo;
    • Oppo, Manuela;
    • Buers, Insa;
    • Persico, Ivana;
    • Onano, Stefano;
    • Cuccuru, Gianmauro;
    • Van Allen, Margot I.;
    • Hulait, Gurdip;
    • Aubertin, Gudrun;
    • Muntoni, Francesco;
    • Fry, Andrew E.;
    • Annerén, Göran;
    • Stattin, Eva‐Lena;
    • Palomares‐Bralo, María;
    • Santos‐Simarro, Fernando;
    • Cucca, Francesco;
    • Crisponi, Giangiorgio;
    • Rutsch, Frank;
    • Crisponi, Laura
    Publication type:
    Article
    12

    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51
    By:
    • Nevado, Julián;
    • Rosenfeld, Jill A;
    • Mena, Rocío;
    • Palomares-Bralo, María;
    • Vallespín, Elena;
    • Ángeles Mori, María;
    • Tenorio, Jair A;
    • Gripp, Karen W;
    • Denenberg, Elizabeth;
    • del Campo, Miguel;
    • Plaja, Alberto;
    • Martín-Arenas, Rubén;
    • Santos-Simarro, Fernando;
    • Armengol, Lluis;
    • Gowans, Gordon;
    • Orera, María;
    • Sanchez-Hombre, M Carmen;
    • Corbacho-Fernández, Esther;
    • Fernández-Jaén, Alberto;
    • Haldeman-Englert, Chad
    Publication type:
    Article
    13

    Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2
    By:
    • Maghnie, Mohamad;
    • Semler, Oliver;
    • Guillen-Navarro, Encarna;
    • Selicorni, Angelo;
    • Heath, Karen E.;
    • Haeusler, Gabriele;
    • Hagenäs, Lars;
    • Merker, Andrea;
    • Leiva-Gea, Antonio;
    • González, Vanesa López;
    • Raimann, Adalbert;
    • Rehberg, Mirko;
    • Santos-Simarro, Fernando;
    • Ertl, Diana-Alexandra;
    • Gregersen, Pernille Axél;
    • Onesimo, Roberta;
    • Landfeldt, Erik;
    • Jarrett, James;
    • Quinn, Jennifer;
    • Rowell, Richard
    Publication type:
    Article
    14

    De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 3, p. 440, doi. 10.1093/hmg/ddab265
    By:
    • Gregor, Anne;
    • Meerbrei, Tanja;
    • Gerstner, Thorsten;
    • Toutain, Annick;
    • Lynch, Sally Ann;
    • Stals, Karen;
    • Maxton, Caroline;
    • Lemke, Johannes R;
    • Bernat, John A;
    • Bombei, Hannah M;
    • Foulds, Nicola;
    • Hunt, David;
    • Kuechler, Alma;
    • Beygo, Jasmin;
    • Stöbe, Petra;
    • Bouman, Arjan;
    • Palomares-Bralo, Maria;
    • Santos-Simarro, Fernando;
    • Garcia-Minaur, Sixto;
    • Pacio-Miguez, Marta
    Publication type:
    Article
    15

    Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.

    Published in:
    Genes, 2023, v. 14, n. 6, p. 1179, doi. 10.3390/genes14061179
    By:
    • Parra, Alejandro;
    • Rabin, Rachel;
    • Pappas, John;
    • Pascual, Patricia;
    • Cazalla, Mario;
    • Arias, Pedro;
    • Gallego-Zazo, Natalia;
    • Santana, Alfredo;
    • Arroyo, Ignacio;
    • Artigas, Mercè;
    • Pachajoa, Harry;
    • Alanay, Yasemin;
    • Akgun-Dogan, Ozlem;
    • Ruaud, Lyse;
    • Couque, Nathalie;
    • Levy, Jonathan;
    • Porras-Hurtado, Gloria Liliana;
    • Santos-Simarro, Fernando;
    • Ballesta-Martinez, Maria Juliana;
    • Guillén-Navarro, Encarna
    Publication type:
    Article
    16
    17

    Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

    Published in:
    Genes, 2021, v. 12, n. 5, p. 738, doi. 10.3390/genes12050738
    By:
    • Tenorio-Castaño, Jair;
    • Morte, Beatriz;
    • Nevado, Julián;
    • Martinez-Glez, Víctor;
    • Santos-Simarro, Fernando;
    • García-Miñaúr, Sixto;
    • Palomares-Bralo, María;
    • Pacio-Míguez, Marta;
    • Gómez, Beatriz;
    • Arias, Pedro;
    • Alcochea, Alba;
    • Carrión, Juan;
    • Arias, Patricia;
    • Almoguera, Berta;
    • López-Grondona, Fermina;
    • Lorda-Sanchez, Isabel;
    • Galán-Gómez, Enrique;
    • Valenzuela, Irene;
    • Méndez Perez, María Pilar;
    • Cuscó, Ivón
    Publication type:
    Article
    18
    19
    20
    21

    Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4233, doi. 10.3390/ijms23084233
    By:
    • González-Iglesias, Eva;
    • López-Vázquez, Ana;
    • Noval, Susana;
    • Nieves-Moreno, María;
    • Granados-Fernández, María;
    • Arruti, Natalia;
    • Rosa-Pérez, Irene;
    • Pacio-Míguez, Marta;
    • Montaño, Victoria E. F.;
    • Rodríguez-Solana, Patricia;
    • del Pozo, Angela;
    • Santos-Simarro, Fernando;
    • Vallespín, Elena
    Publication type:
    Article
    22

    Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2014, v. 15, n. 6, p. 10350, doi. 10.3390/ijms150610350
    By:
    • Teresa-Rodrigo, María E.;
    • Eckhold, Juliane;
    • Puisac, Beatriz;
    • Dalski, Andreas;
    • Gil-Rodríguez, María C.;
    • Braunholz, Diana;
    • Baquero, Carolina;
    • Hernández-Marcos, María;
    • de Karam, Juan C.;
    • Ciero, Milagros;
    • Santos-Simarro, Fernando;
    • Lapunzina, Pablo;
    • Wierzba, Jolanta;
    • Casale, César H.;
    • Ramos, Feliciano J.;
    • Gillessen-Kaesbach, Gabriele;
    • Kaiser, Frank J.;
    • Pié, Juan
    Publication type:
    Article
    23

    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.652454
    By:
    • Nevado, Julián;
    • García-Miñaúr, Sixto;
    • Palomares-Bralo, María;
    • Vallespín, Elena;
    • Guillén-Navarro, Encarna;
    • Rosell, Jordi;
    • Bel-Fenellós, Cristina;
    • Ángeles Mori, María;
    • Milá, Montserrat;
    • del Campo, Miguel;
    • Barrúz, Pilar;
    • Santos-Simarro, Fernando;
    • Obregón, Gabriela;
    • Orellana, Carmen;
    • Pachajoa, Harry;
    • Antonio Tenorio, Jair;
    • Galán, Enrique;
    • Cigudosa, Juan C.;
    • Moresco, Angélica;
    • Saleme, César
    Publication type:
    Article
    24

    Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.645595
    By:
    • Nevado, Julián;
    • Bel-Fenellós, Cristina;
    • Sandoval-Talamantes, Ana Karen;
    • Hernández, Adolfo;
    • Biencinto-López, Chantal;
    • Martínez-Fernández, María Luisa;
    • Barrúz, Pilar;
    • Santos-Simarro, Fernando;
    • Mori-Álvarez, María Ángeles;
    • Mansilla, Elena;
    • García-Santiago, Fé Amalia;
    • Valcorba, Isabel;
    • Sáenz-Rico, Belén;
    • Martínez-Frías, María Luisa;
    • Lapunzina, Pablo
    Publication type:
    Article
    25
    26
    27
    28

    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

    Published in:
    Human Genetics, 2016, v. 135, n. 5, p. 569, doi. 10.1007/s00439-016-1655-9
    By:
    • Szafranski, Przemyslaw;
    • Gambin, Tomasz;
    • Dharmadhikari, Avinash;
    • Akdemir, Kadir;
    • Jhangiani, Shalini;
    • Schuette, Jennifer;
    • Godiwala, Nihal;
    • Yatsenko, Svetlana;
    • Sebastian, Jessica;
    • Madan-Khetarpal, Suneeta;
    • Surti, Urvashi;
    • Abellar, Rosanna;
    • Bateman, David;
    • Wilson, Ashley;
    • Markham, Melinda;
    • Slamon, Jill;
    • Santos-Simarro, Fernando;
    • Palomares, María;
    • Nevado, Julián;
    • Lapunzina, Pablo
    Publication type:
    Article
    29

    Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

    Published in:
    Human Genetics, 2016, v. 135, n. 2, p. 209, doi. 10.1007/s00439-015-1627-5
    By:
    • Yaoita, Masako;
    • Niihori, Tetsuya;
    • Mizuno, Seiji;
    • Okamoto, Nobuhiko;
    • Hayashi, Shion;
    • Watanabe, Atsushi;
    • Yokozawa, Masato;
    • Suzumura, Hiroshi;
    • Nakahara, Akihiko;
    • Nakano, Yusuke;
    • Hokosaki, Tatsunori;
    • Ohmori, Ayumi;
    • Sawada, Hirofumi;
    • Migita, Ohsuke;
    • Mima, Aya;
    • Lapunzina, Pablo;
    • Santos-Simarro, Fernando;
    • García-Miñaúr, Sixto;
    • Ogata, Tsutomu;
    • Kawame, Hiroshi
    Publication type:
    Article
    30

    Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 856, doi. 10.1002/ajmg.a.62010
    By:
    • Siccha, Sofía M.;
    • Cueto, Anna María;
    • Parrón‐Pajares, Manuel;
    • González‐Morán, Gaspar;
    • Pacio‐Miguez, Marta;
    • Del Pozo, Ángela;
    • Solís, Mario;
    • Rodriguez‐Jimenez, Carmen;
    • Caino, Silvia;
    • Fano, Virginia;
    • Heath, Karen E.;
    • García‐Miñaúr, Sixto;
    • Palomares‐Bralo, María;
    • Santos‐Simarro, Fernando
    Publication type:
    Article
    31

    Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2222, doi. 10.1002/ajmg.a.61778
    By:
    • Pacio Miguez, Marta;
    • Santos‐Simarro, Fernando;
    • García‐Miñaúr, Sixto;
    • Velázquez Fragua, Ramón;
    • Pozo, Ángela;
    • Solís, Mario;
    • Jiménez Rodríguez, Carmen;
    • Rufo‐Rabadán, Virginia;
    • Fernandez, Victoria Eugenia;
    • Rueda, Inmaculada;
    • Gomez del Pozo, Maria Victoria;
    • Gallego, Natividad;
    • Lapunzina, Pablo;
    • Palomares‐Bralo, María
    Publication type:
    Article
    32

    Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
    By:
    • Suter, Aude‐Annick;
    • Santos‐Simarro, Fernando;
    • Toerring, Pernille Mathiesen;
    • Abad Perez, Angela;
    • Ramos‐Mejia, Rosario;
    • Heath, Karen E.;
    • Huckstadt, Victoria;
    • Parrón‐Pajares, Manuel;
    • Mensah, Martin Atta;
    • Hülsemann, Wiebke;
    • Holtgrewe, Manuel;
    • Mundlos, Stefan;
    • Kornak, Uwe;
    • Bartsch, Oliver;
    • Ehmke, Nadja
    Publication type:
    Article
    33

    Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2740, doi. 10.1002/ajmg.a.37852
    By:
    • Tenorio, Jair;
    • Romanelli, Valeria;
    • Martin‐Trujillo, Alex;
    • Fernández, García‐Moya;
    • Segovia, Mabel;
    • Perandones, Claudia;
    • Pérez Jurado, Luis A.;
    • Esteller, Manel;
    • Fraga, Mario;
    • Arias, Pedro;
    • Gordo, Gema;
    • Dapía, Irene;
    • Mena, Rocío;
    • Palomares, María;
    • Pérez de Nanclares, Guiomar;
    • Nevado, Julián;
    • García‐Miñaur, Sixto;
    • Santos‐Simarro, Fernando;
    • Martinez‐Glez, Víctor;
    • Vallespín, Elena
    Publication type:
    Article
    34

    Two Novel POC1A Mutations in the Primordial Dwarfism, SOFT Syndrome: Clinical Homogeneity but Also Unreported Malformations.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 210, doi. 10.1002/ajmg.a.37393
    By:
    • Barraza‐García, Jimena;
    • Iván Rivera‐Pedroza, Carlos;
    • Salamanca, Luis;
    • Belinchón, Alberta;
    • López‐González, Vanesa;
    • Sentchordi‐Montané, Lucía;
    • del Pozo, Ángela;
    • Santos‐Simarro, Fernando;
    • Campos‐Barros, Ángel;
    • Lapunzina, Pablo;
    • Guillén‐Navarro, Encarna;
    • González‐Casado, Isabel;
    • García‐Miñaur, Sixto;
    • Heath, Karen E.
    Publication type:
    Article
    35
    36

    Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.

    Published in:
    Therapeutic Advances in Musculoskeletal Disease, 2022, p. 1, doi. 10.1177/1759720X221084848
    By:
    • Savarirayan, Ravi;
    • De Bergua, Josep Maria;
    • Arundel, Paul;
    • McDevitt, Helen;
    • Cormier-Daire, Valerie;
    • Saraff, Vrinda;
    • Skae, Mars;
    • Delgado, Borja;
    • Leiva-Gea, Antonio;
    • Santos-Simarro, Fernando;
    • Salles, Jean Pierre;
    • Nicolino, Marc;
    • Rossi, Massimiliano;
    • Kannu, Peter;
    • Bober, Michael B.;
    • Phillips III, John;
    • Saal, Howard;
    • Harmatz, Paul;
    • Burren, Christine;
    • Gotway, Garrett
    Publication type:
    Article
    37
    38
    39
    40
    41

    FGF9 mutation causes craniosynostosis along with multiple synostoses.

    Published in:
    Human Mutation, 2017, v. 38, n. 11, p. 1471, doi. 10.1002/humu.23292
    By:
    • Rodriguez‐Zabala, Maria;
    • Aza‐Carmona, Miriam;
    • Rivera‐Pedroza, Carlos I.;
    • Belinchón, Alberta;
    • Guerrero‐Zapata, Isabel;
    • Barraza‐García, Jimena;
    • Vallespin, Elena;
    • Lu, Min;
    • del Pozo, Angela;
    • Glucksman, Marc J.;
    • Santos‐Simarro, Fernando;
    • Heath, Karen E.
    Publication type:
    Article
    42

    A New Overgrowth Syndrome is due to Mutations in RNF125.

    Published in:
    Human Mutation, 2014, v. 35, n. 12, p. 1436, doi. 10.1002/humu.22689
    By:
    • Tenorio, Jair;
    • Mansilla, Alicia;
    • Valencia, María;
    • Martínez‐Glez, Víctor;
    • Romanelli, Valeria;
    • Arias, Pedro;
    • Castrejón, Nerea;
    • Poletta, Fernando;
    • Guillén‐Navarro, Encarna;
    • Gordo, Gema;
    • Mansilla, Elena;
    • García‐Santiago, Fé;
    • González‐Casado, Isabel;
    • Vallespín, Elena;
    • Palomares, María;
    • Mori, María A.;
    • Santos‐Simarro, Fernando;
    • García‐Miñaur, Sixto;
    • Fernández, Luis;
    • Mena, Rocío
    Publication type:
    Article
    43

    Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1649
    By:
    • García‐Santiago, Fe Amalia;
    • Martínez‐Payo, Cristina;
    • Mansilla, Elena;
    • Santos‐Simarro, Fernando;
    • Ruiz de Azua Ballesteros, Miguel;
    • Mori, María Ángeles;
    • Antolín Alvarado, Eugenia;
    • Nieto, Yolanda;
    • Vallcorba, Isabel;
    • Tenorio, Jair;
    • Nevado, Julián;
    • Lapunzina, Pablo
    Publication type:
    Article
    44

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

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.972
    By:
    • 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
    Publication type:
    Article
    45
    46
    47