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- [1] A novel heterozygous likely pathogenic variant in GNB1 causing hyperphagia, severe early onset obesity and neurodevelopmental disorderHORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 101 - 102Karantza, Maria论文数: 0 引用数: 0 h-index: 0机构: Mitera Childrens Hosp, Athens, Greece Mitera Childrens Hosp, Athens, GreeceSeo, Go Hun论文数: 0 引用数: 0 h-index: 0机构: 3billion, Seoul, South Korea Mitera Childrens Hosp, Athens, GreeceHyun, Seong-In论文数: 0 引用数: 0 h-index: 0机构: 3billion, Seoul, South Korea Mitera Childrens Hosp, Athens, GreeceLee, Hane论文数: 0 引用数: 0 h-index: 0机构: 3billion, Seoul, South Korea Mitera Childrens Hosp, Athens, GreeceKitsiou, Sophia论文数: 0 引用数: 0 h-index: 0机构: Athens Univ, Med Sch, Athens, Greece Mitera Childrens Hosp, Athens, GreeceMichala, Lina论文数: 0 引用数: 0 h-index: 0机构: Athens Univ, Med Sch, Athens, Greece Mitera Childrens Hosp, Athens, GreeceKostopoulou, Eirini论文数: 0 引用数: 0 h-index: 0机构: Univ Gen Hosp Patras, Patras, Greece Mitera Childrens Hosp, Athens, Greece
- [2] GNB1 Encephalopathy: Clinical Case Report and Literature ReviewMEDICINA-LITHUANIA, 2024, 60 (04):Nasvytis, Matas论文数: 0 引用数: 0 h-index: 0机构: Lithuanian Univ Hlth Sci, Med Acad, Dept Neurol, LT-44307 Kaunas, LithuaniaCiauskaite, Julija论文数: 0 引用数: 0 h-index: 0机构: Lithuanian Univ Hlth Sci, Med Acad, Dept Neurol, LT-44307 Kaunas, Lithuania Lithuanian Univ Hlth Sci, Med Acad, Dept Neurol, LT-44307 Kaunas, LithuaniaJurkeviciene, Giedre论文数: 0 引用数: 0 h-index: 0机构: Lithuanian Univ Hlth Sci, Med Acad, Dept Neurol, LT-44307 Kaunas, Lithuania Lithuanian Univ Hlth Sci, Med Acad, Dept Neurol, LT-44307 Kaunas, Lithuania
- [3] Novel GNB1 pathogenic variants as a cause of developmental delayEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1497 - 1497Stefanovska, Emilija Shukarova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 Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, 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 Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje, North MacedoniaKostovska, Ivana Maleva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 Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje, North MacedoniaNovotni, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Univ Neurol Clin, Med Fac, Skopje, North Macedonia Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje, North MacedoniaAlili-Ademi, Learta论文数: 0 引用数: 0 h-index: 0机构: Univ Pediat Clin, Med Fac, Skopje, North Macedonia Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje, North Macedonia论文数: 引用数: h-index:机构:
- [4] Sensory regulation of absence seizures in a mouse model of Gnb1 encephalopathyISCIENCE, 2022, 25 (11)Teng, Sasa论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY 10032 USA Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USAZhen, Fenghua论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY 10032 USA Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USAMcRae, Briana R.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Vagelos Coll Phys & Surg, Dept Neurosci, New York, NY 10032 USA Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USAZhu, Elaine论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Columbia Coll, New York, NY 10027 USA Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USAFrankel, Wayne N.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Vagelos Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY 10032 USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Genet & Dev, New York, NY 10032 USA Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USAPeng, Yueqing论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USA Columbia Univ, Vagelos Coll Phys & Surg, Dept Pathol & Cell Biol, New York, NY 10032 USA Columbia Univ, Inst Genom Med, Vagelos Coll Phys & Surg, New York, NY 10032 USA
- [5] Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature reviewEUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 61 (03) : 157 - 160Szczaluba, Krzysztof论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandBiernacka, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Med Univ Warsaw, Postgrad Sch Mol Med, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, PolandSzymanska, Krystyna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Child Psychiat, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Ploski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Ul Pawinskiego 3c, PL-02106 Warsaw, Poland
- [6] Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 EncephalopathyMOVEMENT DISORDERS CLINICAL PRACTICE, 2022, 9 : S41 - S43Galosi, Serena论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Human Neurosci, Rome, Italy Sapienza Univ, Dept Human Neurosci, Rome, ItalyPollini, Luca论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Human Neurosci, Rome, Italy Sapienza Univ, Dept Human Neurosci, Rome, ItalyNardecchia, Francesca论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Human Neurosci, Rome, Italy Sapienza Univ, Dept Human Neurosci, Rome, ItalyCellini, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Pediat Neurol Unit & Labs, Childrens Hosp A Meyer, Florence, Italy Sapienza Univ, Dept Human Neurosci, Rome, ItalyGuerrini, Renzo论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Pediat Neurol Unit & Labs, Childrens Hosp A Meyer, Florence, Italy Sapienza Univ, Dept Human Neurosci, Rome, ItalyLeuzzi, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, Dept Human Neurosci, Rome, Italy Sapienza Univ, Dept Human Neurosci, Rome, Italy
- [7] A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulationActa Neurologica Belgica, 2023, 123 : 603 - 605Gloria Rožmarić论文数: 0 引用数: 0 h-index: 0机构: University of Rijeka,Faculty of MedicineMario Hero论文数: 0 引用数: 0 h-index: 0机构: University of Rijeka,Faculty of MedicineValentino Rački论文数: 0 引用数: 0 h-index: 0机构: University of Rijeka,Faculty of MedicineVladimira Vuletić论文数: 0 引用数: 0 h-index: 0机构: University of Rijeka,Faculty of MedicineDarko Chudy论文数: 0 引用数: 0 h-index: 0机构: University of Rijeka,Faculty of MedicineBorut Peterlin论文数: 0 引用数: 0 h-index: 0机构: University of Rijeka,Faculty of Medicine
- [8] A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulationACTA NEUROLOGICA BELGICA, 2023, 123 (02) : 603 - 605Rozmaric, Gloria论文数: 0 引用数: 0 h-index: 0机构: Univ Rijeka, Fac Med, Rijeka, Croatia Univ Rijeka, Fac Med, Rijeka, CroatiaHero, Mario论文数: 0 引用数: 0 h-index: 0机构: Clin Hosp Ctr Rijeka, Clin Neurol, Rijeka, Croatia Univ Rijeka, Fac Med, Rijeka, CroatiaRacki, Valentino论文数: 0 引用数: 0 h-index: 0机构: Clin Hosp Ctr Rijeka, Clin Neurol, Rijeka, Croatia Univ Rijeka, Dept Neurol, Fac Med, Rijeka, Croatia Univ Rijeka, Fac Med, Rijeka, CroatiaVuletic, Vladimira论文数: 0 引用数: 0 h-index: 0机构: Clin Hosp Ctr Rijeka, Clin Neurol, Rijeka, Croatia Univ Rijeka, Dept Neurol, Fac Med, Rijeka, Croatia Univ Rijeka, Fac Med, Rijeka, CroatiaChudy, Darko论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Dubrava, Dept Neurosurg, Zagreb, Croatia Univ Rijeka, Fac Med, Rijeka, CroatiaPeterlin, Borut论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Inst Med Genet, Ljubljana, Slovenia Univ Rijeka, Fac Med, Rijeka, Croatia
- [9] Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (05) : 1001 - 1010Petrovski, Slave论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Univ Melbourne, Dept Med, Austin Hlth, Melbourne, Vic 3050, Australia Univ Melbourne, Royal Melbourne Hosp, Melbourne, Vic 3050, Australia Columbia Univ, Inst Genom Med, New York, NY 10032 USAKury, Sebastien论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Columbia Univ, Inst Genom Med, New York, NY 10032 USAMyers, Candace T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAAnyane-Yeboa, Kwame论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Dept Pediat, Div Clin Genet, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USACogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Columbia Univ, Inst Genom Med, New York, NY 10032 USABialer, Martin论文数: 0 引用数: 0 h-index: 0机构: Northwell Hlth, Div Med Genet, Manhasset, NY 11030 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAXia, Fan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAHemati, Parisa论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USARiviello, James论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAMehaffey, Michele论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USABesnard, Thomas论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Columbia Univ, Inst Genom Med, New York, NY 10032 USABecraft, Emily论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAWadley, Alexandrea论文数: 0 引用数: 0 h-index: 0机构: Univ Oklahoma, Dept Pediat, Genet Sect, Norman, OK 73019 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAPoliti, Anya Revah论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAColombo, Sophie论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAZhu, Xiaolin论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USARen, Zhong论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAAndrews, Ian论文数: 0 引用数: 0 h-index: 0机构: Univ New S Wales, Sch Womens & Childrens Hlth, Kensington, NSW 2052, Australia Columbia Univ, Inst Genom Med, New York, NY 10032 USADudding-Byth, Tracy论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Genet Learning Disabil Serv, Waratah, NSW 2298, Australia Univ Newcastle, Prior Res Ctr GrowUpWell, Callaghan, NSW 2308, Australia Columbia Univ, Inst Genom Med, New York, NY 10032 USASchneider, Amy L.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic 3081, Australia Columbia Univ, Inst Genom Med, New York, NY 10032 USAWallace, Geoffrey论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Herston Sch Med, Dept Neurosci, Royal Childrens Hosp, Brisbane, Qld 4072, Australia Columbia Univ, Inst Genom Med, New York, NY 10032 USA论文数: 引用数: h-index:机构:Schelley, Susan论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAEnns, Gregory M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USACorre, Pierre论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Stomatol, F-44093 Nantes, France Columbia Univ, Inst Genom Med, New York, NY 10032 USADalton, Joline论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Neurol, Minneapolis, MN 55454 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAMercier, Sandra论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Columbia Univ, Inst Genom Med, New York, NY 10032 USALatypova, Xenia论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Columbia Univ, Inst Genom Med, New York, NY 10032 USASchmitt, Sebastien论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Columbia Univ, Inst Genom Med, New York, NY 10032 USAGuzman, Edwin论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAMoore, Christine论文数: 0 引用数: 0 h-index: 0机构: Northwell Hlth, Div Med Genet, Manhasset, NY 11030 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USABier, Louise论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAHeinzen, Erin L.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAKarachunski, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Neurol, Minneapolis, MN 55454 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAShur, Natasha论文数: 0 引用数: 0 h-index: 0机构: Albany Med Ctr, Dept Pediat, Div Genet, Albany, NY 12208 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAGrebe, Theresa论文数: 0 引用数: 0 h-index: 0机构: Univ Arizona, Coll Med, Phoenix Childrens Hosp, Phoenix, AZ 85724 USA Univ Arizona, Coll Med, Dept Child Hlth, Phoenix, AZ 85724 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USABasinger, Alice论文数: 0 引用数: 0 h-index: 0机构: Cook Childrens Phys Network, Ft Worth, TX 76102 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USANguyen, Joanne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Div Med Genet, Dept Pediat, Houston, TX 77030 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USABezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Columbia Univ, Inst Genom Med, New York, NY 10032 USA论文数: 引用数: h-index:机构:Bernstein, Jonathan A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic 3081, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3050, Australia Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic 3050, Australia Columbia Univ, Inst Genom Med, New York, NY 10032 USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USAIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France Columbia Univ, Inst Genom Med, New York, NY 10032 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Columbia Univ, Inst Genom Med, New York, NY 10032 USA
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