共 50 条
- [1] Further Case of Rubinstein-Taybi Syndrome Due to a Deletion in EP300AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (05) : 997 - 1000Foley, Patricia论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Crumlin, Ireland Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Crumlin, IrelandBunyan, David论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Crumlin, IrelandStratton, John论文数: 0 引用数: 0 h-index: 0机构: Waterford Reg Hosp Obstet Waterford, Dept Obstet, Munster, Ireland Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Crumlin, IrelandDillon, Michelle论文数: 0 引用数: 0 h-index: 0机构: St Lukes Gen Hosp Pediat Kilkenny, Dept Pediat, Kilkenny, Leinster, Ireland Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Crumlin, IrelandLynch, Sally Ann论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Crumlin, Ireland Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Crumlin, Ireland
- [2] Rubinstein-Taybi syndrome (CREBBP, EP300)EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (01) : 3 - 3van Belzen, Martine论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Clin Genet, Leiden, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsBartsch, Oliver论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Med Ctr, Inst Human Genet, Mainz, Germany Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsLacombe, Didier论文数: 0 引用数: 0 h-index: 0机构: Bordeaux Univ Hosp, Dept Med Genet, Bordeaux, France Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsPeters, Dorien J. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Dept Human Genet, Leiden, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsHennekam, Raoul C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands
- [3] Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (08) : 837 - 842Zimmermann, Nicole论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Inst Human Genet, D-6500 Mainz, GermanyAcosta, Ana Maria Bravo Ferrer论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Inst Human Genet, D-6500 Mainz, GermanyKohlhase, Juergen论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Inst Human Genet, D-6500 Mainz, GermanyBartsch, Oliver论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Inst Human Genet, D-6500 Mainz, Germany
- [4] Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (04) : 1251 - 1255Wild, K. Taylor论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neonatol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USANomakuchi, Tomoki T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USASheppard, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USALeavens, Karla F.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USADe Leon, Diva D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAZackai, Elaine H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
- [5] Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 MutationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (12) : 3069 - 3082Fergelot, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bordeaux, Dept Genet, Bordeaux, France Univ Hosp Bordeaux, INSERM U1211, Bordeaux, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceVan Belzen, Martine论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceVan Gils, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr, Dept Genet, Bordeaux, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceAfenjar, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Hosp Armand Trousseau La Roche Guyon, AP HP, Unite Genet, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceArmour, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Reg Genet Unit, Ottawa, ON, Canada Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceArveiler, Benoit论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bordeaux, Dept Genet, Bordeaux, France Univ Hosp Bordeaux, INSERM U1211, Bordeaux, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceBeets, Lex论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceBurglen, Lydie论文数: 0 引用数: 0 h-index: 0机构: Hosp Armand Trousseau La Roche Guyon, AP HP, Unite Genet, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceBusa, Tiffany论文数: 0 引用数: 0 h-index: 0机构: Hosp La Timone, AP HM, Unite Genet Clin, Marseille, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceCollet, Marie论文数: 0 引用数: 0 h-index: 0机构: Hosp Necker Enfants Malad, AP HP, Dept Genet, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceDeforges, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr, Dept Genet, Bordeaux, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, Francede Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Donders Ctr Neurosci, Med Ctr, Nijmegen, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceDominguez Garrido, Elena论文数: 0 引用数: 0 h-index: 0机构: Ctr Biomed Res, Logrono La Rioja, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceDorison, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Inst Jerome Lejeune, Dept Neuropediat, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceDupont, Juliette论文数: 0 引用数: 0 h-index: 0机构: CHLN, Hosp Santa Maria, Dept Pediat, Serv Genet, Lisbon, Portugal Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceFrancannet, Christine论文数: 0 引用数: 0 h-index: 0机构: CHU Estaing, Serv Genet Med, Clermont Ferrand, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceGarcia-Minaur, Sixto论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp La Paz, Inst Med & Mol Genet, Madrid, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceGabau Vila, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Hosp Sabadell, Genet Clin, Corp Sanitaria Parc Tauli, Sabadell, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceGebre-Medhin, Samuel论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Div Clin Genet, Dept Lab Med, Lund, Sweden Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceGener Querol, Blanca论文数: 0 引用数: 0 h-index: 0机构: Hosp Cruces, Baracaldo, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceGenevieve, David论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Hosp Arnaud de Villeneuve, Serv Genet Med, Montpellier, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceGerard, Marion论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Hosp Clemenceau, Serv Genet, Caen, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceGervasini, Cristina Giovanna论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Genet, Milan, Italy Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceGoldenberg, Alice论文数: 0 引用数: 0 h-index: 0机构: CHU Rouen, Hosp Charles Nicolle, Unite Genet Clin, Rouen, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceJosifova, Dragana论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp, Dept Med Genet, London, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceLachlan, Katherine论文数: 0 引用数: 0 h-index: 0机构: Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceMaas, Saskia论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceMaranda, Bruno论文数: 0 引用数: 0 h-index: 0机构: CHUL, Lab Med Genet, CHUQ Pavillon, Ste Foy, PQ, Canada Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceMoilanen, Jukka S.论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Oulu Univ Hosp, Dept Clin Genet, PEDEGO Res Unit, Oulu, Finland Univ Oulu, Oulu Univ Hosp, Dept Clin Genet, Med Res Ctr Oulu, Oulu, Finland Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceNordgren, Ann论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Ctr Mol Med, Stockholm, Sweden Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceParent, Philippe论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Hosp Augustin Morvan, Dept Pediat & Genet Med, Brest, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceRankin, Julia论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter, Devon, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceReardon, Willie论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Dublin, Ireland Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceRio, Marlene论文数: 0 引用数: 0 h-index: 0机构: Hosp La Timone, AP HM, Unite Genet Clin, Marseille, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceRoume, Joelle论文数: 0 引用数: 0 h-index: 0机构: CHI Poissy, Unite Genet Med, St Germain En Laye, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceShaw, Adam论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp, Dept Med Genet, London, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceSmigiel, Robert论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Dept Paediat, Wroclaw, Poland Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceSojo, Amaia论文数: 0 引用数: 0 h-index: 0机构: Hosp Cruces, Baracaldo, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceSolomon, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceStembalska, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Dept Genet, Wroclaw, Poland Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceStumpel, Constance论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, Maastricht, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceSuarez, Francisco论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Salud, Serv Genet, Toledo, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceTerhal, Paulien论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceThomas, Simon论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceTouraine, Renaud论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Nord, Serv Genet Clin & Mol, St Etienne, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceVerloes, Alain论文数: 0 引用数: 0 h-index: 0机构: CHU Robert Debre, AP HP, Dept Genet, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceVincent-Delorme, Catherine论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Hosp Arras, Serv Genet Med, Arras, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceWincent, Josephine论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Ctr Mol Med, Stockholm, Sweden Univ Hosp Bordeaux, Dept Genet, Bordeaux, FrancePeters, Dorien J. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, FranceBartsch, Oliver论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Inst Human Genet, Mainz, Germany Univ Hosp Bordeaux, Dept Genet, Bordeaux, France
- [6] Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotypeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (07) : 2129 - 2134论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Bonati, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Ist Auxol Italiano, Ambulatorio Genet Med, Milan, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyMoratto, Daniele论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Diagnost Dept, Flow Cytometry Lab, Brescia, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyMassa, Valentina论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Genet, Milan, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyDi Fede, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Genet, Milan, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyCastiglioni, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Genet, Milan, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyMarchetti, Daniela论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Lab Genet Med, Bergamo, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyChiarini, Marco论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Diagnost Dept, Flow Cytometry Lab, Brescia, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalySottini, Alessandra论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Ctr Ric Ematooncol AIL CREA, Brescia, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyIascone, Maria论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Lab Genet Med, Bergamo, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyCazzaniga, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, Fdn MBBM, San Gerardo Hosp, Ctr Ric M Tettamanti, Monza, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyImberti, Luisa论文数: 0 引用数: 0 h-index: 0机构: ASST Spedali Civili, Ctr Ric Ematooncol AIL CREA, Brescia, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, Italy论文数: 引用数: h-index:机构:Gervasini, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Med Genet, Milan, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, ItalyBadolato, Raffaele论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, ASST Spedali Civili, Pediat Clin, Brescia, Italy Univ Brescia, ASST Spedali Civili, A Nocivelli Inst Mol Med A, Dept Clin & Expt Sci, Brescia, Italy Fdn MBBM, Pediat Dept, Pediat Hematol Outpatient Clin, Monza, Italy
- [7] An atypical Rubinstein-Taybi syndrome 2 associated with EP300 exon 20 skippingEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 455 - 455Carestiato, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Med Sci, Turin, Italy Univ Torino, Dept Med Sci, Turin, ItalyPavinato, Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Med Sci, Turin, Italy Univ Torino, Dept Med Sci, Turin, ItalySorasio, Lorena论文数: 0 引用数: 0 h-index: 0机构: Santa Croce & Carle Hosp, Pediat, Cuneo, Italy Univ Torino, Dept Med Sci, Turin, ItalyCardaropoli, Simona论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Publ Hlth & Pediat, Turin, Italy Univ Torino, Dept Med Sci, Turin, ItalyTodd, Emily论文数: 0 引用数: 0 h-index: 0机构: UCHealth Adult Genet Clin, Adult Med Genet Clin, Anschutz Med Campus, Aurora, CO USA Univ Torino, Dept Med Sci, Turin, ItalyBruselles, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, Rome, Italy Univ Torino, Dept Med Sci, Turin, ItalyDe Rubeis, Silvia论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY USA Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY USA Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA Univ Torino, Dept Med Sci, Turin, ItalyBuxbaum, Joseph论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, New York, NY USA Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY USA Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY USA Univ Torino, Dept Med Sci, Turin, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu IRCCS, Genet & Rare Dis Res Div, Rome, Italy Univ Torino, Dept Med Sci, Turin, ItalyFerrero, Giovanni Battista论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Clin & Biol Sci, Orbassano, Italy Univ Torino, Dept Med Sci, Turin, ItalyBrusco, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Med Sci, Turin, Italy Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy Univ Torino, Dept Med Sci, Turin, Italy
- [8] Rubinstein–Taybi syndrome (CREBBP, EP300)European Journal of Human Genetics, 2011, 19 : 3 - 3Martine van Belzen论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical GeneticsOliver Bartsch论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical GeneticsDidier Lacombe论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical GeneticsDorien J M Peters论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical GeneticsRaoul C M Hennekam论文数: 0 引用数: 0 h-index: 0机构: Leiden University Medical Center,Department of Clinical Genetics
- [9] A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiencyPEDIATRIC ALLERGY AND IMMUNOLOGY, 2018, 29 (07) : 776 - 781论文数: 引用数: h-index:机构:Moratto, Daniele论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, Lab Genet Disorders Childhood, Inst Mol Med A Nocivelli, Dept Pathol, Brescia, Italy Univ Brescia, Dept Mol & Translat Med, Brescia, Italy Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, ItalyGrioni, Andrea论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Natl Ctr Biomol Res, Fac Sci, Brno, Czech Republic Fdn MBBM, Ctr Ric Tettamanti, Monza, Italy Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, ItalyMaitz, Silvia论文数: 0 引用数: 0 h-index: 0机构: San Gerardo Hosp, Fdn MBBM, Pediat Clin, Clin Pediat Genet Unit, Monza, Italy Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, ItalyIascone, Maria论文数: 0 引用数: 0 h-index: 0机构: Azienda Socio Sanit Terr Papa Giovanni XXIII, USSD Lab Genet Med, Bergamo, Italy Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, Italy论文数: 引用数: h-index:机构:Pavan, Fabio论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, Italy Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, ItalySpinelli, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, Italy Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, ItalyBettini, Laura Rachele论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, Italy Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, Italy论文数: 引用数: h-index:机构:Badolato, Raffaele论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, Lab Genet Disorders Childhood, Inst Mol Med A Nocivelli, Dept Pathol, Brescia, Italy Univ Brescia, Dept Mol & Translat Med, Brescia, Italy Univ Brescia, Spedali Civili Brescia, Pediat Clin, Dept Clin & Expt Sci, Brescia, Italy Univ Brescia, Spedali Civili Brescia, Inst Mol Med A Nocivelli, Brescia, Italy Univ Milano Bicocca, Dept Pediat, Fdn MBBM, Monza, Italy
- [10] Genetic heterogeneity in Rubinstein-Taybi syndrome:: delineation of the phenotype of the first patients carrying mutations in EP300JOURNAL OF MEDICAL GENETICS, 2007, 44 (05) : 327 - 333Bartholdi, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandRoelfsema, Jeroen H.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandPapadia, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandBreuning, Martijn H.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandNiedrist, Dunja论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandHennekam, Raoul C.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandSchinzel, Albert论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandPeters, Dorien J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland