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- [1] Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 122 - 122Wallis, M.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Clin Genet Serv, Melbourne, Vic, Australia Austin Hlth, Clin Genet Serv, Melbourne, Vic, AustraliaBaumer, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Zurich, Switzerland Austin Hlth, Clin Genet Serv, Melbourne, Vic, AustraliaSmaili, W.论文数: 0 引用数: 0 h-index: 0机构: Inst Natl Hyg, Dept Genet Med, Rabat, Morocco Austin Hlth, Clin Genet Serv, Melbourne, Vic, AustraliaSefiani, A.论文数: 0 引用数: 0 h-index: 0机构: Inst Natl Hyg, Dept Genet Med, Rabat, Morocco Austin Hlth, Clin Genet Serv, Melbourne, Vic, AustraliaJaouad, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Natl Hyg, Dept Genet Med, Rabat, Morocco Austin Hlth, Clin Genet Serv, Melbourne, Vic, AustraliaJacobson, E.论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Dept Paediat Neurosurg, Sydney, NSW, Australia Austin Hlth, Clin Genet Serv, Melbourne, Vic, AustraliaBowyer, L.论文数: 0 引用数: 0 h-index: 0机构: Royal Womens Hosp, Dept Maternal Fetal Med, Sydney, NSW, Australia Austin Hlth, Clin Genet Serv, Melbourne, Vic, AustraliaMowat, D.论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Dept Med Genet, Sydney, NSW, Australia Austin Hlth, Clin Genet Serv, Melbourne, Vic, Australia论文数: 引用数: h-index:机构:
- [2] Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (03) : 676 - 681Ruggeri, Gaia论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USATimms, Andrew E.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Dev Biol & Regenerat Med, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USACheng, Chi论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USAWeiss, Avery论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Div Ophthalmol, Roger H Johnson Vis Lab, Seattle, WA USA Univ Washington, Sch Med, Dept Ophthalmol, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USAKollros, Peter论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Div Pediat Neurol, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USAChapman, Teresa论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Dept Radiol, Seattle, WA USA Univ Washington, Sch Med, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USATully, Hannah论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA Seattle Childrens Hosp, Div Pediat Neurol, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USAMirzaa, Ghayda M.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA
- [3] Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants[J]. ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2021, 9 (01)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Marcorelles, Pascale论文数: 0 引用数: 0 h-index: 0机构: Brest Univ, UBO EA LIEN 4685, F-29609 Brest, France Brest Univ, Brest Univ Hosp, Pathol Dept, F-29609 Brest, France Normandie Univ, Rouen Univ Hosp, Dept Pathol, UNIROUEN,INSERM U1245, F-76000 Rouen, FranceAudebert-Bellanger, Severine论文数: 0 引用数: 0 h-index: 0机构: Brest Univ Hosp, Dept Genet, F-29200 Brest, France Normandie Univ, Rouen Univ Hosp, Dept Pathol, UNIROUEN,INSERM U1245, F-76000 Rouen, FranceCassinari, Kevin论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, INSERM, U1245, F-76000 Rouen, France Normandie Univ, Rouen Univ Hosp, Dept Genet, F-76000 Rouen, France Normandie Univ, Reference Ctr Dev Disorders, Normandy Ctr Genom & Personalized Med, F-76000 Rouen, France Normandie Univ, Rouen Univ Hosp, Dept Pathol, UNIROUEN,INSERM U1245, F-76000 Rouen, FranceDrouot, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, INSERM, U1245, F-76000 Rouen, France Normandie Univ, Rouen Univ Hosp, Dept Genet, F-76000 Rouen, France Normandie Univ, Reference Ctr Dev Disorders, Normandy Ctr Genom & Personalized Med, F-76000 Rouen, France Normandie Univ, Rouen Univ Hosp, Dept Pathol, UNIROUEN,INSERM U1245, F-76000 Rouen, France论文数: 引用数: h-index:机构:Gonzalez, Bruno J.论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Normandy Ctr Genom & Personalized Med, INSERM, UNIROUEN,U1245, F-76000 Rouen, France Normandie Univ, Rouen Univ Hosp, Dept Pathol, UNIROUEN,INSERM U1245, F-76000 Rouen, FranceHorowitz, Arie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Normandy Ctr Genom & Personalized Med, INSERM, UNIROUEN,U1245, F-76000 Rouen, France Normandie Univ, Rouen Univ Hosp, Dept Pathol, UNIROUEN,INSERM U1245, F-76000 Rouen, FranceLaquerriere, Annie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Rouen Univ Hosp, Dept Pathol, UNIROUEN,INSERM U1245, F-76000 Rouen, France CHR, Pathol Lab, Pavillon Jacques Delarue,1 Rue Germont, F-76031 Rouen, France Normandie Univ, Rouen Univ Hosp, Dept Pathol, UNIROUEN,INSERM U1245, F-76000 Rouen, France论文数: 引用数: h-index:机构:
- [4] Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants[J]. Acta Neuropathologica Communications, 9Florent Marguet论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyMyriam Vezain论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyPascale Marcorelles论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologySéverine Audebert-Bellanger论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyKévin Cassinari论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyNathalie Drouot论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyPascal Chambon论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyBruno J. Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyArie Horowitz论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyAnnie Laquerriere论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of PathologyPascale Saugier-Veber论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ,UNIROUEN, INSERM U1245, Rouen University Hospital, Department of Pathology
- [5] Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus[J]. JOURNAL OF MEDICAL GENETICS, 2012, 49 (11) : 708 - 712Drielsma, Anais论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, Belgium Univ Libre Bruxelles, Inst Interdisciplinary Res IRIBHM, B-1070 Brussels, Belgium Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, BelgiumJalas, Chaim论文数: 0 引用数: 0 h-index: 0机构: Bonei Olam Ctr Rare Jewish Dis, New York, NY USA Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, BelgiumSimonis, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Bioinformat Genome & Networks BiGRe, B-1070 Brussels, Belgium Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, BelgiumDesir, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, Belgium Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, BelgiumSimanovsky, Natalia论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Med Imaging, Jerusalem, Israel Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, BelgiumPirson, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Inst Interdisciplinary Res IRIBHM, B-1070 Brussels, Belgium Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, BelgiumElpeleg, Orly论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, BelgiumAbramowicz, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, Belgium Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, BelgiumEdvardson, Simon论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, Jerusalem, Israel Univ Libre Bruxelles, Hop Erasme ULB, Dept Med Genet, B-1070 Brussels, Belgium
- [6] Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum[J]. MOLECULAR SYNDROMOLOGY, 2010, 1 (03) : 99 - 112Ekici, A. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyHilfinger, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyJatzwauk, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyThiel, C. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyWenzel, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Div Neuropediat, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyLorenz, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Div Neuropediat, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyBoltshauser, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Zurich, Div Neuropediat, Zurich, Switzerland Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyGoecke, T. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Univ Womens Hosp, Div Obstet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyStaatz, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Univ Childrens Hosp, Div Pediat Radiol, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyMorris-Rosendahl, D. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Inst Human Genet, Freiburg, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanySticht, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyHehr, U.论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Inst Human Genet, Regensburg, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, GermanyReis, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany论文数: 引用数: h-index:机构: