共 50 条
- [1] Deletion 22q11.2: Report of a complex meiotic mechanism of originAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (15) : 1778 - 1781Nogueira, Sintia Iole论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Morphol, BR-04023900 Sao Paulo, BrazilHacker, April M.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Morphol, BR-04023900 Sao Paulo, BrazilBellucco, Fernanda T. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Morphol, BR-04023900 Sao Paulo, BrazilKulikowski, Leslie Domenici论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Morphol, BR-04023900 Sao Paulo, BrazilChristofolini, Denise Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Morphol, BR-04023900 Sao Paulo, BrazilCernach, Mirlene C.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Morphol, BR-04023900 Sao Paulo, BrazilMelaragno, Maria Isabel论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Morphol, BR-04023900 Sao Paulo, BrazilEmanuel, Beverly S.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Morphol, BR-04023900 Sao Paulo, Brazil
- [2] 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical HeterogeneityGENES, 2024, 15 (04)de Wallau, Melissa Bittencourt论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilXavier, Ana Carolina论文数: 0 引用数: 0 h-index: 0机构: Centrinho Prefeito Luiz Gomes, BR-89203020 Joinville, SC, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilMoreno, Carolina Araujo论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilKim, Chong Ae论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Sao Paulo, Inst Crianca, FMUSP, BR-05403000 Sao Paulo, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilMendes, Elaine Lustosa论文数: 0 引用数: 0 h-index: 0机构: UFPR, Hosp Clin, Serv Genet, BR-80060900 Curitiba, Parana, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilRibeiro, Erlane Marques论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Albert Sabin HIAS, Serv Genet, BR-60410794 Fortaleza, Ceara, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilOliveira, Amanda论文数: 0 引用数: 0 h-index: 0机构: Ctr Atencao Aos Defeitos Face CADEFI, BR-50060293 Recife, PE, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilFelix, Temis Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre HCPA, Serv Genet Med, BR-90035903 Porto Alegre, RS, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilFett-Conte, Agnes Cristina论文数: 0 引用数: 0 h-index: 0机构: Fac Med Sao Jose do Rio Preto FAMERP FUNFARME, Serv Genet, BR-15090000 Sao Jose Do Rio Preto, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilBonadia, Luciana Cardoso论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilCorreia-Costa, Gabriela Roldao论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilMonlleo, Isabella Lopes论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Alagoas UFAL, Hosp Univ Prof Alberto Antunes HUPAA, Fac Med, Serv Genet Med, BR-57072900 Maceio, AL, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilGil-da-Silva-Lopes, Vera Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, BrazilVieira, Tarsis Paiva论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil Univ Estadual Campinas, Sch Med Sci, Dept Translat Med, Med Genet & Genom Med, BR-13083887 Campinas, SP, Brazil
- [3] Meiotic recombination in the 22q11.2 deletion syndrome.AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 311 - 311Saitta, SC论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAHarris, SE论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USADriscoll, DA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAConforto, D论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAShaikh, TH论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAMaisenbacher, MK论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAMcDonald-McGinn, DM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAZackai, EH论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAYersak, JM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAChakraborty, P论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USAEmanuel, BS论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA
- [4] Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome -: A preliminary studyARCHIVES OF GENERAL PSYCHIATRY, 2001, 58 (01) : 64 - 68Eliez, S论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Psychiat, Stanford, CA 94305 USAAntonarakis, SE论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Psychiat, Stanford, CA 94305 USAMorris, MA论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Psychiat, Stanford, CA 94305 USADahoun, SP论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Psychiat, Stanford, CA 94305 USAReiss, AL论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Psychiat, Stanford, CA 94305 USA
- [5] 22q11.2 deletion syndromeNATURE REVIEWS DISEASE PRIMERS, 2015, 1McDonald-McGinn, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Clin Genet Ctr, Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USASullivan, Kathleen E.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Div Allergy & Immunol, Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USAMarino, Bruno论文数: 0 引用数: 0 h-index: 0机构: Univ Roma La Sapienza, Dept Pediat, Rome, Italy Lorillard Spencer Cenci Fdn, Rome, Italy Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USAPhilip, Nicole论文数: 0 引用数: 0 h-index: 0机构: Assistance Publ Hop Marseille, Dept Med Genet, Marseille, France Aix Marseille Univ, INSERM, GMGF UMR S 910, Marseille, France Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USASwillen, Ann论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Fac Rehabil Sci, Leuven, Belgium Univ Hosp Gasthuisberg, Ctr Human Genet, Leuven, Belgium Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USAVorstman, Jacob A. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Psychiat, Utrecht, Netherlands Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USAZackai, Elaine H.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Clin Genet Ctr, Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USAEmanuel, Beverly S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Div Human Genet, 22q & You Ctr, Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USAVermeesch, Joris R.论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USAMorrow, Bernice E.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Genet, New York, NY USA Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USAScambler, Peter J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dev Biol Birth Defects Sect, Inst Child Hlth, London, England Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USABassett, Anne S.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dalglish Family Hearts & Minds Clin Delet Syndrom, Toronto Gen Hosp, Univ Hlth Network, Toronto, ON, Canada Univ Toronto, Clin Genet Res Program, Ctr Addict & Mental Hlth, Toronto, ON, Canada Univ Penn, Div Human Genet, 22q & You Ctr, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USA
- [7] 22q11.2 deletion syndromeNature Reviews Disease Primers, 1Donna M. McDonald-McGinn论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaKathleen E. Sullivan论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaBruno Marino论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaNicole Philip论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaAnn Swillen论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaJacob A. S. Vorstman论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaElaine H. Zackai论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaBeverly S. Emanuel论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaJoris R. Vermeesch论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaBernice E. Morrow论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaPeter J. Scambler论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of PennsylvaniaAnne S. Bassett论文数: 0 引用数: 0 h-index: 0机构: 22q and You Center,Division of Human Genetics, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania
- [8] Familial deletion of 22q11.2GENETIC COUNSELING, 1999, 10 (03): : 325 - 327Criado, GR论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Infantil Virgen Rocio, Unidad Dismorfol, Seville 41013, SpainGruesomontero, J论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Infantil Virgen Rocio, Unidad Dismorfol, Seville 41013, SpainNavarro, AD论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Infantil Virgen Rocio, Unidad Dismorfol, Seville 41013, Spain
- [9] Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion SyndromeGENES, 2022, 13 (11)Heung, Tracy论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, Canada Univ Hlth Network, Dalglish Family 22q Clin, Toronto, ON M5G 2C4, Canada Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, CanadaConroy, Brigid论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, Canada Univ Toronto, Fac Med, Undergrad Med Educ, Toronto, ON M5S 1A4, Canada Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, CanadaMalecki, Sarah论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, Canada Univ Toronto, Dept Med, Toronto, ON M5S 1A4, Canada Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, CanadaHa, Joanne论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, Canada Univ Hlth Network, Dalglish Family 22q Clin, Toronto, ON M5G 2C4, Canada Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, CanadaBoot, Erik论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Network, Dalglish Family 22q Clin, Toronto, ON M5G 2C4, Canada S Heeren Loo, Advisium, NL-3818 LA Amersfoort, Netherlands Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, CanadaCorral, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Network, Dalglish Family 22q Clin, Toronto, ON M5G 2C4, Canada Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, CanadaBassett, Anne S.论文数: 0 引用数: 0 h-index: 0机构: Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, Canada Univ Hlth Network, Dalglish Family 22q Clin, Toronto, ON M5G 2C4, Canada Univ Toronto, Dept Psychiat, Toronto, ON M5S 1A4, Canada Toronto Gen Hosp Res Inst, Toronto, ON M5G 2C4, Canada Campbell Family Mental Hlth Res Inst, Toronto, ON M5G 2C1, Canada Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, Canada
- [10] Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletionJOURNAL OF MEDICAL GENETICS, 2004, 41 (06) : 413 - 420Baumer, A论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandRiegel, M论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, SwitzerlandSchinzel, A论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland