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- [31] Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)GENETICS IN MEDICINE, 2023, 25 (11)de Boer, Elke论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsOckeloen, Charlotte W.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsKampen, Rosalie A.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsHampstead, Juliet E.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboudumc, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsDingemans, Alexander J. M.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsRots, Dmitrijs论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsLutje, Lukas论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsAshraf, Tazeen论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, Dept Clin Genet, London, England Guys & St Thomas NHS Fdn Trust, Clin Genet, London, England Radboudumc, Dept Human Genet, Nijmegen, NetherlandsBaker, Rachel论文数: 0 引用数: 0 h-index: 0机构: Advocate Childrens Hosp, Park Ridge, IL USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsBarat-Houari, Mouna论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Montpellier, Dept Med Genet Rare Dis & Personalized Med, Genet Lab Rare & Autoinflammatory Dis, Montpellier, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsAngle, Brad论文数: 0 引用数: 0 h-index: 0机构: Advocate Childrens Hosp, Park Ridge, IL USA Radboudumc, Dept Human Genet, Nijmegen, Netherlands论文数: 引用数: h-index:机构:Denomme-Pichon, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, Genet Anomalies Dev, Inserm, UMR1231, Dijon, France Ctr Hosp Univ Dijon, Lab Genet Chromos & Mol, Innovat Diagt Genom Malad Rares UF6254, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsDevinsky, Orrin论文数: 0 引用数: 0 h-index: 0机构: NYU Langone Hlth, NYU Grossman Sch Med, Dept Neurol, New York, NY USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsDubourg, Christele论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Genet Mol & Genom Med, Rennes, France Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsElmslie, Frances论文数: 0 引用数: 0 h-index: 0机构: Univ London, St Georges Hosp, South West Thames Reg Clin Genet Serv, London, England Radboudumc, Dept Human Genet, Nijmegen, NetherlandsElloumi, Houda Zghal论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, Genet Anomalies Dev, Inserm, UMR1231, Dijon, France Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Ctr Hosp Univ Dijon, Federat Hosp Univ Med Translat & Anomalies Dev TR, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsFitzgerald-Butt, Sarah论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsGenevieve, David论文数: 0 引用数: 0 h-index: 0机构: Montpellier Univ, Med Genet Dept, Rare Dis & Personalized Med, Inserm,U1183,CHU Montpellier, Montpellier, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsGoos, Jacqueline A. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Dutch Craniofacial Ctr, Dept Plast & Reconstruct Surg & Hand Surg, Erasmus MC, Rotterdam, Netherlands Univ Med Ctr Rotterdam, Dept Bioinformat, Erasmus MC, Rotterdam, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsHelm, Benjamin M.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN USA Indiana Univ, Richard M Fairbanks Sch Publ Hlth, Dept Epidemiol, Indianapolis, IN USA Radboudumc, Dept Human Genet, Nijmegen, Netherlands论文数: 引用数: h-index:机构:Lasa-Aranzasti, Amaia论文数: 0 引用数: 0 h-index: 0机构: Vall Hebron Univ Hosp, Dept Clin & Mol Genet, Barcelona, Spain Vall Hebron Res Inst, Med Genet Grp, Barcelona, Spain Radboudumc, Dept Human Genet, Nijmegen, NetherlandsLesca, Gaetan论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet, Bron, France Univ Claude Bernard Lyon 1, Inst NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsLynch, Sally A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland, Dept Clin Genet, Crumlin & Temple St, Dublin, Ireland Radboudumc, Dept Human Genet, Nijmegen, NetherlandsMathijssen, Irene M. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Dutch Craniofacial Ctr, Dept Plast & Reconstruct Surg & Hand Surg, Erasmus MC, Rotterdam, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsMcGowan, Ruth论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Ctr Genom Med, Scottish Genomes Partnership, Glasgow, Scotland Radboudumc, Dept Human Genet, Nijmegen, NetherlandsMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsOdent, Sylvie论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Hop Sud, Ctr Reference Malad Rares CLAD Ouest, Serv Genet Clin,ERN ITHACA, Rennes, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsPutoux, Audrey论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Ctr Reference Anomalies Dev, Serv Genet, Bron, France Univ Claude Bernard Lyon 1, Ctr Rech Neurosci Lyon, Equipe GENDEV, CNRS,UMR5292,INSERM,U1028, Lyon, France Radboudumc, Dept Human Genet, Nijmegen, Netherlandsvan Reeuwijk, Jeroen论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsSanten, Gijs W. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsSasaki, Erina论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England Radboudumc, Dept Human Genet, Nijmegen, NetherlandsSorlin, Arthur论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, Genet Anomalies Dev, Inserm, UMR1231, Dijon, France Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, Netherlandsvan der Spek, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Dept Bioinformat, Erasmus MC, Rotterdam, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsSwagemakers, Sigrid M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Dept Bioinformat, Erasmus MC, Rotterdam, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsValenzuela, Irene论文数: 0 引用数: 0 h-index: 0机构: Vall Hebron Univ Hosp, Dept Clin & Mol Genet, Barcelona, Spain Vall Hebron Res Inst, Med Genet Grp, Barcelona, Spain Radboudumc, Dept Human Genet, Nijmegen, NetherlandsViora-Dupont, Eleonore论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsVitobello, Antonio论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, NetherlandsWare, Stephanie M.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN USA Indiana Univ Sch Med, Dept Pediat, Indianapolis, IN USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsWeber, Mathys论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboudumc, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsLow, Karen J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston NHS Fdn Trust, Dept Clin Genet, Bristol, England Radboudumc, Dept Human Genet, Nijmegen, NetherlandsFisher, Simon E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsVissers, Lisenka E. L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsWong, Maggie M. K.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, Venray, Netherlands Radboudumc, Dept Human Genet, Nijmegen, Netherlands
- [32] Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG SyndromeANNALS OF LABORATORY MEDICINE, 2024, 44 (01) : 110 - 117Amllal, Nada论文数: 0 引用数: 0 h-index: 0机构: Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco Natl Inst Hlth, Dept Med Genet, Ibn Batouta Ave, nb 27, Rabat 10090, Morocco Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, MoroccoElalaoui, Siham Chafai论文数: 0 引用数: 0 h-index: 0机构: Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco Med Genet Unit, CHU Ibn Sina, Rabat, Morocco Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, MoroccoZerkaoui, Maria论文数: 0 引用数: 0 h-index: 0机构: Med Genet Unit, CHU Ibn Sina, Rabat, Morocco Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, MoroccoChiguer, Amal论文数: 0 引用数: 0 h-index: 0机构: Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco Natl Inst Hlth, Dept Med Genet, Ibn Batouta Ave, nb 27, Rabat 10090, Morocco Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, MoroccoAfif, Lamia论文数: 0 引用数: 0 h-index: 0机构: Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco Natl Inst Hlth, Dept Med Genet, Ibn Batouta Ave, nb 27, Rabat 10090, Morocco Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, MoroccoIzgua, Amal Thimou论文数: 0 引用数: 0 h-index: 0机构: CHU IBN SINA, Ctr Consultat & External Explorat, HER, Rabat, Morocco Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, MoroccoSefiani, Abdelaziz论文数: 0 引用数: 0 h-index: 0机构: Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco Natl Inst Hlth, Dept Med Genet, Ibn Batouta Ave, nb 27, Rabat 10090, Morocco Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, MoroccoLyahyai, Jaber论文数: 0 引用数: 0 h-index: 0机构: Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco
- [33] A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletionEUROPEAN JOURNAL OF MEDICAL GENETICS, 2015, 58 (02) : 86 - 94Kim, Hyo Jeong论文数: 0 引用数: 0 h-index: 0机构: Konyang Univ, Coll Med, Dept Pediat, Taejon, South Korea Konyang Univ, Coll Med, Dept Pediat, Taejon, South KoreaCho, Eunhae论文数: 0 引用数: 0 h-index: 0机构: Green Cross Genome, Yongin, South Korea Konyang Univ, Coll Med, Dept Pediat, Taejon, South KoreaPark, Jong Bum论文数: 0 引用数: 0 h-index: 0机构: Konyang Univ, Coll Med, Dept Rehabil Med, Taejon, South Korea Konyang Univ, Coll Med, Dept Pediat, Taejon, South KoreaIm, Woo Young论文数: 0 引用数: 0 h-index: 0机构: Konyang Univ, Coll Med, Dept Psychiat, Taejon, South Korea Konyang Univ, Coll Med, Dept Pediat, Taejon, South KoreaKim, Hyon J.论文数: 0 引用数: 0 h-index: 0机构: Konyang Univ, Coll Med, Dept Med Genet, Taejon, South Korea Konyang Univ, Coll Med, Dept Pediat, Taejon, South Korea
- [34] Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (03) : 547 - 552Sacharow, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USALi, Deling论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Pathol, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USAFan, Yao Shan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dept Pathol, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USATekin, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA
- [35] Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome PhenotypePEDIATRIC NEUROLOGY, 2024, 155 : 51 - 54Babunovska, Marija论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North Macedonia St Cyril & Methodius Univ, Univ Clin Neurol, Mother Theresa Str 17, Skopje 1000, North Macedonia Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North MacedoniaCangovska, Tatjana Cepreganova论文数: 0 引用数: 0 h-index: 0机构: Univ Goce Delcev, Shtip, North Macedonia Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North MacedoniaKuzmanovski, Igor论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North Macedonia Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North MacedoniaNoveski, Predrag论文数: 0 引用数: 0 h-index: 0机构: Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje, North Macedonia Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North MacedoniaPlaseska-Karanfilska, Dijana论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North MacedoniaCvetkovska, Emilija论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North Macedonia Univ Clin Neurol, Ss Cyril & Methodius Univ, Fac Med, Skopje, North Macedonia
- [36] Clinical features of Coffin-Siris syndrome.AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A338 - A338Peters, BJ论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Med Coll Virginia, Dept Human Genet, Richmond, VA 23298 USAPandya, A论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Med Coll Virginia, Dept Human Genet, Richmond, VA 23298 USAVanner, L论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Med Coll Virginia, Dept Human Genet, Richmond, VA 23298 USAKerkering, K论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Med Coll Virginia, Dept Human Genet, Richmond, VA 23298 USABodurtha, JN论文数: 0 引用数: 0 h-index: 0机构: Virginia Commonwealth Univ, Med Coll Virginia, Dept Human Genet, Richmond, VA 23298 USA
- [37] Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndromeHELIYON, 2024, 10 (06)Wei, Shuoshuo论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Med Res Ctr, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R ChinaLi, Yanying论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R China Chinese Res Ctr Behav Med Growth & Dev, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R ChinaYang, Wanling论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R ChinaChen, Shuxiong论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Med Res Ctr, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R ChinaLiu, Fupeng论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Med Res Ctr, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R ChinaZhang, Mei论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R China Chinese Res Ctr Behav Med Growth & Dev, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R ChinaBan, Bo论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Med Res Ctr, Jining, Peoples R China Chinese Res Ctr Behav Med Growth & Dev, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R ChinaHe, Dongye论文数: 0 引用数: 0 h-index: 0机构: Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Med Res Ctr, Jining, Peoples R China Jining Med Univ, Affiliated Hosp, Dept Endocrinol Genet & Metab, Jining, Peoples R China
- [38] Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature ReviewFRONTIERS IN GENETICS, 2020, 11Kim, Su Jin论文数: 0 引用数: 0 h-index: 0机构: Inha Univ, Coll Med, Inha Univ Hosp, Dept Pediat, Incheon, South Korea Inha Univ, Coll Med, Inha Univ Hosp, Dept Pediat, Incheon, South Korea论文数: 引用数: h-index:机构:Park, Ji Sun论文数: 0 引用数: 0 h-index: 0机构: Inha Univ, Coll Med, Inha Univ Hosp, Dept Pediat, Incheon, South Korea Inha Univ, Coll Med, Inha Univ Hosp, Dept Pediat, Incheon, South KoreaKwon, Dae Gyu论文数: 0 引用数: 0 h-index: 0机构: Inha Univ, Coll Med, Inha Univ Hosp, Dept Orthopaed Surg, Incheon, South Korea Inha Univ, Coll Med, Inha Univ Hosp, Dept Pediat, Incheon, South KoreaLee, Jeong-Seop论文数: 0 引用数: 0 h-index: 0机构: Inha Univ, Inha Univ Hosp, Coll Med, Dept Psychiat, Incheon, South Korea Inha Univ, Coll Med, Inha Univ Hosp, Dept Pediat, Incheon, South Korea论文数: 引用数: h-index:机构:Lee, Ji Eun论文数: 0 引用数: 0 h-index: 0机构: Inha Univ, Coll Med, Inha Univ Hosp, Dept Pediat, Incheon, South Korea Inha Univ, Coll Med, Inha Univ Hosp, Dept Pediat, Incheon, South Korea
- [39] 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG SyndromeGENES, 2025, 16 (02)Iwata-Otsubo, Aiko论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USARippert, Alyssa L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USABalciuniene, Jorune论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Div Genom Diag, Philadelphia, PA 19104 USA Revvity, Revv Omics, Pittsburgh, PA 15275 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAFiordaliso, Sarah K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAChen, Robert论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAMarkose, Preetha论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USASkraban, Cara M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAGray, Christopher论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, 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, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USADubbs, Holly A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USADeardorff, Matthew A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAConlin, Laura K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Div Genom Diag, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USAIzumi, Kosuke论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Texas Southwestern Med Ctr, Dept Pediat, Div Genet & Metab, Dallas, TX 75390 USA Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA
- [40] Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015)EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (09) : 1270 - 1270Ockeloen, Charlotte W.论文数: 0 引用数: 0 h-index: 0Willemsen, Marjolein H.论文数: 0 引用数: 0 h-index: 0de Munnik, Sonja论文数: 0 引用数: 0 h-index: 0van Bon, Bregje W. M.论文数: 0 引用数: 0 h-index: 0de Leeuw, Nicole论文数: 0 引用数: 0 h-index: 0Verrips, Aad论文数: 0 引用数: 0 h-index: 0Kant, Sarina G.论文数: 0 引用数: 0 h-index: 0Jones, Elizabeth A.论文数: 0 引用数: 0 h-index: 0Brunner, Han G.论文数: 0 引用数: 0 h-index: 0van Loon, Rosa L. E.论文数: 0 引用数: 0 h-index: 0Smeets, Eric E. J.论文数: 0 引用数: 0 h-index: 0van Haelst, Mieke M.论文数: 0 引用数: 0 h-index: 0van Haaften, Gijs论文数: 0 引用数: 0 h-index: 0Nordgren, Ann论文数: 0 引用数: 0 h-index: 0Malmgren, Helena论文数: 0 引用数: 0 h-index: 0Grigelioniene, Giedre论文数: 0 引用数: 0 h-index: 0Vermeer, Sascha论文数: 0 引用数: 0 h-index: 0Louro, Pedro论文数: 0 引用数: 0 h-index: 0Ramos, Lina论文数: 0 引用数: 0 h-index: 0Maal, Thomas J. J.论文数: 0 引用数: 0 h-index: 0van Heumen, Celeste C.论文数: 0 引用数: 0 h-index: 0Yntema, Helger G.论文数: 0 引用数: 0 h-index: 0Carels, Carine E. L.论文数: 0 引用数: 0 h-index: 0Kleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0