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- [42] A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndromeBMC ENDOCRINE DISORDERS, 2015, 15Okawa, Tetsuji论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, Japan Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, JapanYoshida, Masanori论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, Japan Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, JapanUsui, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org, Kyoto Med Ctr, Clin Res Inst, Kyoto 6128555, Japan Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, JapanKudou, Takahiro论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Inst Prot Res, Res Ctr State Of The Art Funct Prot Anal, Lab Prot Informat, Suita, Osaka 5650871, Japan Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, Japan论文数: 引用数: h-index:机构:Fukuoka, Kazuki论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, Japan Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, JapanTakahashi, Norio论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, Japan Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, JapanUehara, Yuka论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, Japan Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, JapanOiso, Yutaka论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Grad Sch Med, Dept Endocrinol & Diabet, Nagoya, Aichi 4668550, Japan Nagoya Ekisaikai Hosp, Dept Endocrinol & Diabet, Nakagawawa Ku, Nagoya, Aichi 4548502, Japan
- [43] A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndromeBMC Endocrine Disorders, 15Tetsuji Okawa论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and DiabetesMasanori Yoshida论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and DiabetesTakeshi Usui论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and DiabetesTakahiro Kudou论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and DiabetesYasumasa Iwasaki论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and DiabetesKazuki Fukuoka论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and DiabetesNorio Takahashi论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and DiabetesYuka Uehara论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and DiabetesYutaka Oiso论文数: 0 引用数: 0 h-index: 0机构: Nagoya Ekisaikai Hospital,Department of Endocrinology and Diabetes
- [44] Mutation of GATA3 in human breast tumorsOncogene, 2004, 23 : 7669 - 7678Jerry Usary论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsVictor Llaca论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsGamze Karaca论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsShafaq Presswala论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsMehmet Karaca论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsXiaping He论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsAnita Langerød论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsRolf Kåresen论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsDaniel S Oh论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsLynn G Dressler论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsPer E Lønning论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsRobert L Strausberg论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsStephen Chanock论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsAnne-Lise Børresen-Dale论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of GeneticsCharles M Perou论文数: 0 引用数: 0 h-index: 0机构: Lineberger Comprehensive Cancer Center,Department of Genetics
- [45] Mutation of GATA3 in human breast tumorsONCOGENE, 2004, 23 (46) : 7669 - 7678Usary, J论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USALlaca, V论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAKaraca, G论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAPresswala, S论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAKaraca, M论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAHe, XP论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USALangerod, A论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAKåresen, R论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAOh, DS论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USADressler, LG论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USALonning, PE论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAStrausberg, RL论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAChanock, S论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USABorresen-Dale, AL论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USAPerou, CM论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA Univ N Carolina, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA
- [46] A neonatal case of vascular ring with Alagille syndromeSAGE OPEN MEDICAL CASE REPORTS, 2023, 11Lee, Pei-Shan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USA Rady Childrens Hosp, Dept Pediat, San Diego, CA USA Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USASilva Sepulveda, Jose A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USA Rady Childrens Hosp, Dept Pediat, San Diego, CA USA Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USADel Campo, Miguel论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USA Rady Childrens Hosp, Dept Pediat, San Diego, CA USA Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USALeibel, Sandra L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USA Rady Childrens Hosp, Dept Pediat, San Diego, CA USA Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USAHildreth, Amber论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USA Rady Childrens Hosp, Dept Pediat, San Diego, CA USA Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USAMarc-Aurele, Krishelle L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USA Rady Childrens Hosp, Dept Pediat, San Diego, CA USA Univ Calif San Diego, Dept Pediat, 9300 Campus Point Dr,MC 7774, La Jolla, CA 92037 USA
- [47] A novel mutation in the GATA3 gene in a family with HDR syndrome ((H)under-barypoparathyroidism, sensorineural (D)under-bareafness and (R)under-barenal anomaly syndrome)JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2006, 19 (01): : 87 - 92Adachi, M论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, JapanTachibana, K论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, JapanAsakura, Y论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, JapanTsuchiya, T论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, Japan Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Clin Res Inst, Minami Ku, Yokohama, Kanagawa 2328555, Japan
- [48] A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese familyENDOCRINE JOURNAL, 2024, 71 (11) : 1077 - 1086Hasegawa, Yutaka论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanSegawa, Toshie论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanChida, Ai论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanYoshida, Eriko论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanKinno, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanChiba, Hiraku论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanOda, Tomoyasu论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanTakahashi, Yoshihiko论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanNata, Koji论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Sch Pharm, Div Med Biochem, Yahaba, Iwate 0283694, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, JapanIshigaki, Yasushi论文数: 0 引用数: 0 h-index: 0机构: Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan Iwate Med Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Yahaba, Iwate 0283695, Japan
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- [50] HDR: A Novel Mutation in GATA-3 with Variable Expressivity in an Affected FamilyJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2021, 32 (10): : 413 - 413Sambharia, Meenakshi论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Roy J & Lucille A Carver Coll Med, Iowa City, IA USA Univ Iowa, Roy J & Lucille A Carver Coll Med, Iowa City, IA USAMisurac, Jason论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Roy J & Lucille A Carver Coll Med, Iowa City, IA USA Univ Iowa, Roy J & Lucille A Carver Coll Med, Iowa City, IA USAThomas, Christie P.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Roy J & Lucille A Carver Coll Med, Iowa City, IA USA Univ Iowa, Roy J & Lucille A Carver Coll Med, Iowa City, IA USA