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- [1] A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature reviewBMC ENDOCRINE DISORDERS, 2021, 21 (01)Zhao, Xiu论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R China Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R ChinaLi, Zhuoguang论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R China Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R ChinaWang, Li论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R China Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R ChinaLan, Zhangzhang论文数: 0 引用数: 0 h-index: 0机构: Southern Univ Sci & Technol, Sch Med, Shenzhen 518055, Guangdong, Peoples R China Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R ChinaLin, Feifei论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Radiol Dept, Shenzhen 518038, Peoples R China Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R ChinaZhang, Wenyong论文数: 0 引用数: 0 h-index: 0机构: Southern Univ Sci & Technol, Sch Med, Shenzhen 518055, Guangdong, Peoples R China Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R ChinaSu, Zhe论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R China Shenzhen Childrens Hosp, Endocrinol Dept, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R China
- [2] Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literatureFRONTIERS IN ENDOCRINOLOGY, 2024, 15Orsolini, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dept Clin & Expt Med, Endocrine Unit, Pisa, Italy Univ Pisa, Dept Clin & Expt Med, Endocrine Unit, Pisa, ItalyPignata, Luisa论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dept Clin & Expt Med, Endocrine Unit, Pisa, Italy Univ Pisa, Dept Clin & Expt Med, Endocrine Unit, Pisa, ItalyBaldinotti, Fulvia论文数: 0 引用数: 0 h-index: 0机构: Pisa Univ Hosp, Dept Lab Med, Sect Mol Genet, Pisa, Italy Univ Pisa, Dept Clin & Expt Med, Endocrine Unit, Pisa, ItalyRomano, Silvia论文数: 0 引用数: 0 h-index: 0机构: Pisa Univ Hosp, Dept Sect Med Genet, Pisa, Italy Univ Pisa, Dept Clin & Expt Med, Endocrine Unit, Pisa, Italy论文数: 引用数: h-index:机构:Canale, Domenico论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Dept Clin & Expt Med, Endocrine Unit, Pisa, Italy Univ Pisa, Dept Clin & Expt Med, Endocrine Unit, Pisa, Italy
- [3] A Novel Heterozygous Missense Variant in the LZTR1 Gene as a cause of Noonan SyndromeHORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 446 - 446Dateki, Sumito论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Nagasaki, Japan Nagasaki Univ, Grad Sch Biomed Sci, Nagasaki, JapanWatanabe, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Nagasaki, Japan Nagasaki Univ, Grad Sch Biomed Sci, Nagasaki, JapanYoshiura, Koh-ichiro论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Nagasaki, Japan Nagasaki Univ, Grad Sch Biomed Sci, Nagasaki, JapanMoriuchi, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Nagasaki Univ, Grad Sch Biomed Sci, Nagasaki, Japan Nagasaki Univ, Grad Sch Biomed Sci, Nagasaki, Japan
- [4] LZTR1: Genotype Expansion in Noonan SyndromeHORMONE RESEARCH IN PAEDIATRICS, 2020, 92 (04): : 269 - 275Guemes, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain La Princesa Res Inst, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainMartin-Rivada, Alvaro论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainOrtiz-Cabrera, Neimar Valentina论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Clin Genet, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainMartos-Moreno, Gabriel Angel论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain La Princesa Res Inst, Madrid, Spain Univ Autonoma Madrid, Dept Pediat, Madrid, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Fisiopatol Obesidad & Nutr, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainPozo-Roman, Jesus论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain La Princesa Res Inst, Madrid, Spain Univ Autonoma Madrid, Dept Pediat, Madrid, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Fisiopatol Obesidad & Nutr, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, SpainArgente, Jesus论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat Endocrinol, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain La Princesa Res Inst, Madrid, Spain Univ Autonoma Madrid, Dept Pediat, Madrid, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Fisiopatol Obesidad & Nutr, Madrid, Spain CEIUAM CSI, Food Inst, IMDEA, Madrid, Spain Hosp Infantil Univ Nino Jesus, Dept Pediat, Avda Menendez Pelayo 65, ES-28009 Madrid, Spain
- [5] Recessive and dominant patterns in Noonan Syndrome associated with LZTR1 variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 223 - 223Cambra, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainLopez-Blazquez, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Pediat, Pediat Cardiol, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainSanchez del Pozo, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Pediat Endocrinol, Dept Pediat, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainCruz-Rojo, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Pediat Endocrinol, Dept Pediat, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainGuemes, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Nino Jesus, Pediat Endocrinol, Dept Pediat, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainCarcavilla, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Pediat Endocrinol, Dept Pediat, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainSeidel, V.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Pediat, Clin Genet, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainMedrano, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Pediat, Pediat Cardiol, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, SpainEzquieta, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Inst Invest Sanitaria Gregorio Maranon IiSGM, Dept Lab Med, Mol Diagnost Lab, Madrid, Spain
- [6] Providing more evidence on LZTR1 variants in Noonan syndrome patientsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (02) : 409 - 414Chinton, Josefina论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaHuckstadt, Victoria论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaMucciolo, Mafalda论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Med Genet Lab, Med Genet Unit, Rome, Italy Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaLepri, Francesca论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Med Genet Lab, Med Genet Unit, Rome, Italy Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaNovelli, Antonio论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Med Genet Lab, Med Genet Unit, Rome, Italy Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaPablo Gravina, Luis论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, ArgentinaGabriela Obregon, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Garrahan, Serv Genet, Buenos Aires, DF, Argentina Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, Argentina
- [7] Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsGENETICS IN MEDICINE, 2018, 20 (10) : 1175 - 1185Johnston, Jennifer J.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAvan der Smagt, Jasper J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 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 NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAPagnamenta, Alistair T.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Natl Inst Hlth Res, Wellcome Ctr Human Genet, Oxford Biomed Res Ctr, Oxford, England NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAAlswaid, Abdulrahman论文数: 0 引用数: 0 h-index: 0机构: King Abdul Aziz Med City, Riyadh, Saudi Arabia NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABaker, Eva H.论文数: 0 引用数: 0 h-index: 0机构: NIH, Dept Radiol & Imaging Serv, Bldg 10, Bethesda, MD 20892 USA NIH, Clin Ctr, Bldg 10, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABlair, Edward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 NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABorck, Guntram论文数: 0 引用数: 0 h-index: 0机构: Univ Ulm, Inst Human Genet, Ulm, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABrinkmann, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Magdeburg, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USACraigen, William论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAVu Chi Dung论文数: 0 引用数: 0 h-index: 0机构: Natl Childrens Hosp, Dept Med Genet & Metab, Rare Dis & Newborn Screening Serv, Hanoi, Vietnam NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAEmrick, Lisa论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAEverman, David B.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAvan Gassen, Koen L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAGulsuner, Suleyman论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Div Med Genet, Seattle, WA 98195 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAHarr, Margaret H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAJain, Mahim论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Johns Hopkins Med Inst, Kennedy Krieger Inst, Baltimore, MD 21205 USA Johns Hopkins Med Inst, Dept Pediat, Baltimore, MD 21205 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAKuechler, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USALeppig, Kathleen A.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Washington, Genet Serv, Seattle, WA USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAMcDonald-McGinn, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USANgoc Thi Bich Can论文数: 0 引用数: 0 h-index: 0机构: Natl Childrens Hosp, Dept Med Genet & Metab, Rare Dis & Newborn Screening Serv, Hanoi, Vietnam NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAPeleg, Amir论文数: 0 引用数: 0 h-index: 0机构: Carmel Hosp, Inst Human Genet, Haifa, Israel NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USARoeder, Elizabeth R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat & Mol & Human Genet, San Antonio, TX USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USARogers, R. Curtis论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USASagi-Dain, Lena论文数: 0 引用数: 0 h-index: 0机构: Carmel Hosp, Inst Human Genet, Haifa, Israel NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USASapp, Julie C.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USASchaffer, Alejandro A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Computat Biol Branch, Natl Ctr Biotechnol Informat, Bldg 10, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USASchanze, Denny论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Magdeburg, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAStewart, Helen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 NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USATaylor, Jenny C.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Natl Inst Hlth Res, Wellcome Ctr Human Genet, Oxford Biomed Res Ctr, Oxford, England NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAVerbeek, Nienke E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAWalkiewicz, Magdalena 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 NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAZackai, Elaine H.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAZweier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USAZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Inst Human Genet, Magdeburg, Germany NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USALee, Brendan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USABiesecker, Leslie G.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA
- [8] LZTR1 haploinsufficiency: a cardiology case reportAMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2025, 369 : S54 - S55Pt, Do论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Jackson, MS USALiu, R.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Cambridge, MA USA Univ Mississippi, Med Ctr, Jackson, MS USAPomianowski, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Connecticut, Storrs, CT USA Univ Mississippi, Med Ctr, Jackson, MS USAMiller, Am论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Jackson, MS USA Univ Mississippi, Med Ctr, Jackson, MS USAGandhi, N.论文数: 0 引用数: 0 h-index: 0机构: Christiana Care, Newark, DE USA Univ Mississippi, Med Ctr, Jackson, MS USAPomianowski, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Jackson, MS USA Univ Mississippi, Med Ctr, Jackson, MS USA
- [9] A novel missense variant in the LZTR1 gene in a patient with an overlapping phenotype of autosomal dominant Noonan Syndrome and SchwannomatosisEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1127 - 1128Calosci, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyPassaglia, Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyCalo, Annapaola论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Clin Genet Unit, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyRigon, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy Ist Ric Pediat, Fdn Citta Speranza, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyAli, Dario Seif论文数: 0 引用数: 0 h-index: 0机构: AOU Marche, SOSD Genet Med & Coordinamento Malattie Rare, Ancona, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyBertolin, Cinzia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Padova, Clin Genet Unit, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, ItalyTrevisson, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy Univ Hosp Padova, Clin Genet Unit, Padua, Italy Ist Ric Pediat, Fdn Citta Speranza, Padua, Italy Univ Padua, Dept Womens & Childrens Hlth SDB, Padua, Italy
- [10] Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the TelencephalonFRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9Talley, Mary Jo论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Grad Program Mol & Dev Biol, Cincinnati Childrens Hosp, Res Fdn,Coll Med, Cincinnati, OH USA Univ Cincinnati, Grad Program Mol & Dev Biol, Cincinnati Childrens Hosp, Res Fdn,Coll Med, Cincinnati, OH USANardini, Diana论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Expt Hematol & Canc Biol, Cincinnati, OH 45229 USA Univ Cincinnati, Grad Program Mol & Dev Biol, Cincinnati Childrens Hosp, Res Fdn,Coll Med, Cincinnati, OH USAShabbir, Nisha论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Grad Program Mol & Dev Biol, Cincinnati Childrens Hosp, Res Fdn,Coll Med, Cincinnati, OH USAEhrman, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Expt Hematol & Canc Biol, Cincinnati, OH 45229 USA Univ Cincinnati, Grad Program Mol & Dev Biol, Cincinnati Childrens Hosp, Res Fdn,Coll Med, Cincinnati, OH USAPrada, Carlos E.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45267 USA Univ Cincinnati, Grad Program Mol & Dev Biol, Cincinnati Childrens Hosp, Res Fdn,Coll Med, Cincinnati, OH USAWaclaw, Ronald R.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Expt Hematol & Canc Biol, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45267 USA Cincinnati Childrens Hosp Med Ctr, Div Dev Biol, Cincinnati, OH 45229 USA Univ Cincinnati, Grad Program Mol & Dev Biol, Cincinnati Childrens Hosp, Res Fdn,Coll Med, Cincinnati, OH USA