共 50 条
- [1] Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutationsHUMAN MOLECULAR GENETICS, 2014, 23 (07) : 1709 - 1722Kuo, Debbie S.论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Anat, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USALabelle-Dumais, Cassandre论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Anat, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USAMao, Mao论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Anat, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USAJeanne, Marion论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Anat, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USAKauffman, William B.论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Anat, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USAAllen, Jennifer论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Anat, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USAFavor, Jack论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USAGould, Douglas B.论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Anat, San Francisco, CA 94143 USA UCSF Sch Med, Inst Human Genet, Dept Ophthalmol, San Francisco, CA 94143 USA
- [2] Allelic Differences Contribute to Variation in Ocular Dysgenesis, Myopathy and Neuronal Lamination Defects Caused by Col4a1 and Col4a2 MutationsGLYCOBIOLOGY, 2012, 22 (11) : 1572 - 1573Kuo, Debbie论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USA UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USALabelle-Dumais, Cassandre论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USA UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USAMao, Mao论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USA UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USAJeanne, Marion论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USA UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USAKauffman, Berkeley论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USA UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USAAllen, Jennifer论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USA UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USAFavor, Jack论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Munich, Germany UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USAGould, Douglas论文数: 0 引用数: 0 h-index: 0机构: UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USA UCSF Sch Med, Dept Anat, Inst Human Genet, Dept Ophthalmol, San Francisco, CA USA
- [3] COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic StrokeAMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (01) : 91 - 101Jeanne, Marion论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Anat, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USALabelle-Dumais, Cassandre论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Anat, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USAJorgensen, Jeff论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Anat, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USAKauffman, W. Berkeley论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Anat, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USAMancini, Grazia M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, NL-3015 GJ Rotterdam, Netherlands Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USAFavor, Jack论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USAValant, Valerie论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Hemorrhag Stroke Res Grp, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Massachusetts Gen Hosp, Div Neurocrit Care & Emergency Neurol, Boston, MA 02114 USA Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USAGreenberg, Steven M.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Hemorrhag Stroke Res Grp, Boston, MA 02114 USA Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USARosand, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Hemorrhag Stroke Res Grp, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Massachusetts Gen Hosp, Div Neurocrit Care & Emergency Neurol, Boston, MA 02114 USA Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USAGould, Douglas B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Anat, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Ophthalmol, Inst Human Genet, San Francisco, CA 94143 USA
- [4] Further refinement of COL4A1 and COL4A2 related cortical malformationsEUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 61 (12) : 765 - 772Cavallin, Mara论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France INSERM, UMR 1163, Imagine Inst, Lab Embryol & Genet Congenital Malformat, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceMine, Manuele论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp St Louis Lariboisiere Fernand Widal, AP HP, Serv Genet Mol Neurovasc, Ctr Reference Malad Vasc Rares Cerveau & Oeil CER, Paris, France INSERM, UMR 1161, Genet & Physiopathol Malad Cerebrovasc, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FrancePhilbert, Marion论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France INSERM, UMR 1163, Imagine Inst, Lab Embryol & Genet Congenital Malformat, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France论文数: 引用数: h-index:机构:Lepage, Jean Marie论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Neuropediat, Rennes, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceCoste, Thibault论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp St Louis Lariboisiere Fernand Widal, AP HP, Serv Genet Mol Neurovasc, Ctr Reference Malad Vasc Rares Cerveau & Oeil CER, Paris, France INSERM, UMR 1161, Genet & Physiopathol Malad Cerebrovasc, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceLopez-Gonzalez, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, IMIB Arrixaca, Secc Genet Med & Dismorfol, Serv Pediat, Murcia, Spain Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceSanchez-Soler, Maria Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, IMIB Arrixaca, Secc Genet Med & Dismorfol, Serv Pediat, Murcia, Spain Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceBallesta-Martinez, Maria Juliana论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, IMIB Arrixaca, Secc Genet Med & Dismorfol, Serv Pediat, Murcia, Spain Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceRemerand, Ganaelle论文数: 0 引用数: 0 h-index: 0机构: CHU Estaing, Serv Neonatol, Clermont Ferrand, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FrancePasquier, Laurent论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Genet, Rennes, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceGuet, Agnes论文数: 0 引用数: 0 h-index: 0机构: Hop Louis Mourier, Neonatol Pediat, Colombes, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceChelly, Jamel论文数: 0 引用数: 0 h-index: 0机构: Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France CNRS, U7104, Illkirch Graffenstaden, France INSERM, U964, Illkirch Graffenstaden, France Univ Strasbourg, Illkirch Graffenstaden, France Hop Univ Strasbourg, Hop Civil Strasbourg, Serv Diagnost Genet, Strasbourg, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceLascelles, Karine论文数: 0 引用数: 0 h-index: 0机构: St Thomas Hosp, Evelina London Childrens Hosp, Dept Neurosci, Westminster Bridge Rd, London SE1 7EH, England Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FrancePrieto-Morin, Carol论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp St Louis Lariboisiere Fernand Widal, AP HP, Serv Genet Mol Neurovasc, Ctr Reference Malad Vasc Rares Cerveau & Oeil CER, Paris, France INSERM, UMR 1161, Genet & Physiopathol Malad Cerebrovasc, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceKossorotoff, Manoelle论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malad Hosp, AP HP, Pediat Neurol, Paris, France Necker Enfants Malad, AP HP, French Ctr Paediat Stroke, F-75015 Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceLasserve, Elisabeth Tournier论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp St Louis Lariboisiere Fernand Widal, AP HP, Serv Genet Mol Neurovasc, Ctr Reference Malad Vasc Rares Cerveau & Oeil CER, Paris, France INSERM, UMR 1161, Genet & Physiopathol Malad Cerebrovasc, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, FranceBahi-Buisson, Nadia论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France INSERM, UMR 1163, Imagine Inst, Lab Embryol & Genet Congenital Malformat, Paris, France Necker Enfants Malad Hosp, AP HP, Pediat Neurol, Paris, France Necker Enfants Malad, AP HP, Natl Rare Dis Ctr, Ctr Reference Deficiences Intellectuelles Causes, F-75015 Paris, France Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France
- [5] ASSESSMENT OF RETINAL ARTERIOLAR TORTUOSITY IN PATIENTS WITH COL4A1 OR COL4A2 MUTATIONSRETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2025, 45 (02): : 296 - 302Krivosic, Valerie论文数: 0 引用数: 0 h-index: 0机构: Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, France Univ Paris Cite, Paris, France Hop Lariboisiere, AP HP, Ctr Reference Malad Vasc Rares Cerveau & Oeil CERV, Paris, France Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, FranceGoupillou, Paul论文数: 0 引用数: 0 h-index: 0机构: Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, France Univ Paris Cite, Paris, France Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, FranceBuffon-Porcher, Frederic论文数: 0 引用数: 0 h-index: 0机构: Hop Lariboisiere, AP HP, Ctr Reference Malad Vasc Rares Cerveau & Oeil CERV, Paris, France FHU NeuroVasc, Translat Neurovasc Ctr, Paris, France FHU NeuroVasc, Dept Neurol, Paris, France Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, FranceMorel, Helene论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, AP HP, INSERM, NeuroDiderot,UMR 1141, Paris, France Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, FranceGuey, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Hop Lariboisiere, AP HP, Ctr Reference Malad Vasc Rares Cerveau & Oeil CERV, Paris, France FHU NeuroVasc, Translat Neurovasc Ctr, Paris, France FHU NeuroVasc, Dept Neurol, Paris, France Univ Paris Cite, INSERM, NeuroDiderot, U1161, F-75019 Paris, France Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, France论文数: 引用数: h-index:机构:Lasserve, Elisabeth Tournier论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, AP HP, INSERM, NeuroDiderot,UMR 1141, Paris, France Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, FranceChabriat, Hugues论文数: 0 引用数: 0 h-index: 0机构: Hop Lariboisiere, AP HP, Ctr Reference Malad Vasc Rares Cerveau & Oeil CERV, Paris, France FHU NeuroVasc, Translat Neurovasc Ctr, Paris, France FHU NeuroVasc, Dept Neurol, Paris, France Univ Paris Cite, INSERM, NeuroDiderot, U1161, F-75019 Paris, France Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, FranceGaudric, Alain论文数: 0 引用数: 0 h-index: 0机构: Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, France Univ Paris Cite, Paris, France Hop Lariboisiere, AP HP, Ctr Reference Malad Vasc Rares Cerveau & Oeil CERV, Paris, France Hop Lariboisiere, AP HP, Ophthalmol Dept, Paris, France
- [6] Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthoodANNALS OF NEUROLOGY, 2012, 71 (04) : 439 - 441de Vries, Linda S.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr, Dept Neonatol, Utrecht, Netherlands Univ Utrecht, Univ Med Ctr, Dept Neonatol, Utrecht, NetherlandsMancini, Grazia M. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Clin Genet, Med Ctr, NL-3000 DR Rotterdam, Netherlands Univ Utrecht, Univ Med Ctr, Dept Neonatol, Utrecht, Netherlands
- [7] The correlation and role analysis of COL4A1 and COL4A2 in hepatocarcinogenesisAGING-US, 2020, 12 (01): : 204 - 223Liu, Yanli论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R ChinaZhang, Jiaye论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Guangzhou Inst Biomed & Hlth, Inst Publ Hlth, Guangzhou, Peoples R China Chinese Acad Sci, South China Inst Stem Cell Biol & Regenerat Med, Guangzhou Inst Biomed & Hlth, Key Lab Regenerat Biol, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R ChinaChen, Yan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Guangzhou Inst Biomed & Hlth, Inst Publ Hlth, Guangzhou, Peoples R China Chinese Acad Sci, South China Inst Stem Cell Biol & Regenerat Med, Guangzhou Inst Biomed & Hlth, Key Lab Regenerat Biol, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R ChinaSohel, Hasan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Guangzhou Inst Biomed & Hlth, Inst Publ Hlth, Guangzhou, Peoples R China Chinese Acad Sci, South China Inst Stem Cell Biol & Regenerat Med, Guangzhou Inst Biomed & Hlth, Key Lab Regenerat Biol, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R ChinaKe, Xinrong论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R ChinaChen, Jingqi论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, Guangzhou, Peoples R China Guangzhou Med Univ, Dept Med Oncol, Guangzhou, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R ChinaLi, Yin-Xiong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Guangzhou Inst Biomed & Hlth, Inst Publ Hlth, Guangzhou, Peoples R China Chinese Acad Sci, South China Inst Stem Cell Biol & Regenerat Med, Guangzhou Inst Biomed & Hlth, Key Lab Regenerat Biol, Guangzhou, Peoples R China Chinese Acad Sci, Guangzhou Inst Biomed & Hlth, Guangdong Prov Key Lab Biocomp, Guangzhou, Peoples R China Guangdong Prov Key Lab Stem Cell & Regenerat Med, Guangzhou, Peoples R China Univ Chinese Acad Sci, Beijing, Peoples R China Guangzhou Med Univ, Affiliated Hosp 2, Stem Cell Translat Med Ctr, State Key Lab Resp Dis, Guangzhou, Peoples R China
- [8] Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotypeULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2022, 60 (06) : 805 - 811Coste, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, INSERM, NeuroDiderot, Paris, France Hop St Louis, AP HP, Serv Genet Mol Neurovasc, Paris, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, FranceAloui, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, INSERM, NeuroDiderot, Paris, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, FrancePetit, F.论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Clin Genet Guy Fontaine, Lille, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, FranceMoutton, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, INSERM, NeuroDiderot, Paris, FranceDevisme, L.论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Inst Pathol, Lille, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, FranceWells, C. F.论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Dept Genet Med & Foetopathol, Montpellier, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, FranceLeboucq, N.论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Dept Neuroradiol, Neuroradiol Diagnost Pediat, Montpellier, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, FranceVerpillat, P.论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Radiol, Lille, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, FranceYvert, M.论文数: 0 引用数: 0 h-index: 0机构: MSP Bordeaux Bagatelle, Ctr Pluridisciplinaire Diagnost Prenatal, Talence, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, FranceRivier, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Dept Neurol Pediat, CHU Montpellier, INSERM,CNRS,PhyMedExp, Montpellier, France Univ Paris Cite, INSERM, NeuroDiderot, Paris, France论文数: 引用数: h-index:机构:
- [9] COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targetsHUMAN MOLECULAR GENETICS, 2012, 21 : R97 - R110Kuo, Debbie S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Sch Med, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Sch Med, Dept Ophthalmol, San Francisco, CA 94143 USALabelle-Dumais, Cassandre论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Sch Med, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Sch Med, Dept Ophthalmol, San Francisco, CA 94143 USAGould, Douglas B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Sch Med, Dept Ophthalmol, San Francisco, CA 94143 USA Univ Calif San Francisco, Sch Med, Dept Anat, San Francisco, CA 94143 USA Univ Calif San Francisco, Sch Med, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Sch Med, Dept Ophthalmol, San Francisco, CA 94143 USA
- [10] Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?PEDIATRIC NEPHROLOGY, 2007, 22 (05) : 645 - 651Zhang, Ke Wei论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, Australia Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, AustraliaTonna, Stephen论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, Australia Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, AustraliaWang, Yan Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, Australia Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, AustraliaRana, Kesha论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, Australia Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, AustraliaPadavarat, Smitha论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, Australia Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, AustraliaSavige, Judy论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, Australia Univ Melbourne, No Hosp, Austin Hlth & No Hlth, Dept Med, Epping, NSW 3076, Australia