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Hans Joenje
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48
Arwert, Fré
39
de Winter, Johan
26
Waisfisz, Quinten
25
Rooimans, Martin
22
Oostra, Anneke
21
Hoatlin, Maureen
21
Mathew, Christopher
14
van Berkel, Carola
13
Pals, Gerard
11
Medhurst, Annette
9
Kruyt, Frank
9
Digweed, Martin
9
D'Andrea, Alan
9
Buchwald, Manuel
9
van de Vrugt, Henri
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All Publications
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2009: Ameziane Najim; van den Ouweland Ans M W; Adank Muriel A; Vijzelaar Raymond N C P; Errami Abdellatif; Dorsman Josephine C; Joenje Hans; Meijers-Heijboer Hanne; Waisfisz Quinten
Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer.
Breast cancer research and treatment 2009;118(3):651-3.
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2009: Bakker Sietske T; van de Vrugt Henri J; Rooimans Martin A; Oostra Anneke B; Steltenpool Jurgen; Delzenne-Goette Elly; van der Wal Anja; van der Valk Martin; Joenje Hans; te Riele Hein; de Winter Johan P
Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M.
Human molecular genetics 2009;18(18):3484-95.
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2009: Singh Thiyam Ramsing; Bakker Sietske T; Agarwal Sheba; Jansen Michael; Grassman Elke; Godthelp Barbara C; Ali Abdullah Mahmood; Du Chang-hu; Rooimans Martin A; Fan Qiang; Wahengbam Kebola; Steltenpool Jurgen; Andreassen Paul R; Williams David A; Joenje Hans; de Winter Johan P; Meetei Amom Ruhikanta
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.
Blood 2009;114(1):174-80.
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2009: de Winter Johan P; Joenje Hans
The genetic and molecular basis of Fanconi anemia.
Mutation research 2009;668(1-2):11-9.
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2009: van der Lelij Petra; Godthelp Barbara C; van Zon Wouter; van Gosliga Djoke; Oostra Anneke B; Steltenpool Jûrgen; de Groot Jan; Scheper Rik J; Wolthuis Rob M; Waisfisz Quinten; Darroudi Firouz; Joenje Hans; de Winter Johan P
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.
PloS one 2009;4(9):e6936.
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2008: van Zeeburg Hester J T; Snijders Peter J F; Wu Thijs; Gluckman Eliane; Soulier Jean; Surralles Jordi; Castella Maria; van der Wal Jacqueline E; Wennerberg Johan; Califano Joseph; Velleuer Eunike; Dietrich Ralf; Ebell Wolfram; Bloemena Elisabeth; Joenje Hans; Leemans C René; Brakenhoff Ruud H
Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients.
Journal of the National Cancer Institute 2008;100(22):1649-53.
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2008: Ameziane Najim; Errami Abdellatif; Léveillé France; Fontaine Chantal; de Vries Yne; van Spaendonk Rosalina M L; de Winter Johan P; Pals Gerard; Joenje Hans
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
Human mutation 2008;29(1):159-66.
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2008: van der Groep Petra; Hoelzel Michael; Buerger Horst; Joenje Hans; de Winter Johan P; van Diest Paul J
Loss of expression of FANCD2 protein in sporadic and hereditary breast cancer.
Breast cancer research and treatment 2008;107(1):41-7.
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2008: Hess C J; Ameziane N; Schuurhuis G J; Errami A; Denkers F; Kaspers G J L; Cloos J; Joenje H; Reinhardt D; Ossenkoppele G J; Zwaan C M; Waisfisz Q
Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.
Cellular oncology : the official journal of the International Society for Cellular Oncology 2008;30(4):299-306.
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2007: Stone Stacie; Sobeck Alexandra; van Kogelenberg Margriet; de Graaf Bendert; Joenje Hans; Christian Jan; Hoatlin Maureen E
Identification, developmental expression and regulation of the Xenopus ortholog of human FANCG/XRCC9.
Genes to cells : devoted to molecular & cellular mechanisms 2007;12(7):841-51.
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2007: Patel Ketan J; Joenje Hans
Fanconi anemia and DNA replication repair.
DNA repair 2007;6(7):885-90.
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2007: Kalb Reinhard; Neveling Kornelia; Hoehn Holger; Schneider Hildegard; Linka Yvonne; Batish Sat Dev; Hunt Curtis; Berwick Marianne; Callen Elsa; Surralles Jordi; Casado Jose A; Bueren Juan; Dasi Angeles; Soulier Jean; Gluckman Eliane; Zwaan C Michel; van Spaendonk Rosalina; Pals Gerard; de Winter Johan P; Joenje Hans; Grompe Markus; Auerbach Arleen D; Hanenberg Helmut; Schindler Detlev
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
American journal of human genetics 2007;80(5):895-910.
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2007: Ling Chen; Ishiai Masamichi; Ali Abdullah Mahmood; Medhurst Annette L; Neveling Kornelia; Kalb Reinhard; Yan Zhijiang; Xue Yutong; Oostra Anneke B; Auerbach Arleen D; Hoatlin Maureen E; Schindler Detlev; Joenje Hans; de Winter Johan P; Takata Minoru; Meetei Amom Ruhikanta; Wang Weidong
FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.
The EMBO journal 2007;26(8):2104-14.
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2007: Ciccia Alberto; Ling Chen; Coulthard Rachel; Yan Zhijiang; Xue Yutong; Meetei Amom Ruhikanta; Laghmani El Houari; Joenje Hans; McDonald Neil; de Winter Johan P; Wang Weidong; West Stephen C
Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM.
Molecular cell 2007;25(3):331-43.
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2007: Xia Bing; Dorsman Josephine C; Ameziane Najim; de Vries Yne; Rooimans Martin A; Sheng Qing; Pals Gerard; Errami Abdellatif; Gluckman Eliane; Llera Julian; Wang Weidong; Livingston David M; Joenje Hans; de Winter Johan P
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Nature genetics 2007;39(2):159-61.
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2007: Dorsman Josephine C; Levitus Marieke; Rockx Davy; Rooimans Martin A; Oostra Anneke B; Haitjema Anneke; Bakker Sietske T; Steltenpool Jûrgen; Schuler Dezsö; Mohan Sheila; Schindler Detlev; Arwert Fré; Pals Gerard; Mathew Christopher G; Waisfisz Quinten; de Winter Johan P; Joenje Hans
Identification of the Fanconi anemia complementation group I gene, FANCI.
Cellular oncology : the official journal of the International Society for Cellular Oncology 2007;29(3):211-8.
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2006: Godthelp Barbara C; van Buul Paul P W; Jaspers Nicolaas G J; Elghalbzouri-Maghrani Elhaam; van Duijn-Goedhart Annemarie; Arwert Fré; Joenje Hans; Zdzienicka Malgorzata Z
Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2.
Mutation research 2006;601(1-2):191-201.
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2006: Medhurst Annette L; Laghmani El Houari; Steltenpool Jurgen; Ferrer Miriam; Fontaine Chantal; de Groot Jan; Rooimans Martin A; Scheper Rik J; Meetei Amom Ruhikanta; Wang Weidong; Joenje Hans; de Winter Johan P
Evidence for subcomplexes in the Fanconi anemia pathway.
Blood 2006;108(6):2072-80.
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2006: Meyer Stefan; Barber Lisa M; White Daniel J; Will Andrew M; Birch Jillian M; Kohler Janice A; Ersfeld Klaus; Blom Eric; Joenje Hans; Eden Tim O B; Malcolm Taylor G
Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia.
British journal of haematology 2006;133(3):284-92.
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2006: Hussain Shobbir; Wilson James B; Blom Eric; Thompson Larry H; Sung Patrick; Gordon Susan M; Kupfer Gary M; Joenje Hans; Mathew Christopher G; Jones Nigel J
Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2.
DNA repair 2006;5(5):629-40.
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2006: Léveillé France; Ferrer Miriam; Medhurst Annette L; Laghmani El Houari; Rooimans Martin A; Bier Patrick; Steltenpool Jurgen; Titus Tom A; Postlethwait John H; Hoatlin Maureen E; Joenje Hans; de Winter Johan P
The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC.
DNA repair 2006;5(5):556-65.
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2006: Godthelp Barbara C; Wiegant Wouter W; Waisfisz Quinten; Medhurst Annette L; Arwert Fré; Joenje Hans; Zdzienicka Malgorzata Z
Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2.
Mutation research 2006;594(1-2):39-48.
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2006: Bakhshi Sameer; Joenje Hans; Schindler Detlev; Oostra Anneke; Mohamed Anwar N; Madgy David; Ravindranath Yaddanapudi; Abella Esteban
A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma.
Cancer genetics and cytogenetics 2006;164(2):168-71.
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2006: Sobeck Alexandra; Stone Stacie; Costanzo Vincenzo; de Graaf Bendert; Reuter Tanja; de Winter Johan; Wallisch Michael; Akkari Yassmine; Olson Susan; Wang Weidong; Joenje Hans; Christian Jan L; Lupardus Patrick J; Cimprich Karlene A; Gautier Jean; Hoatlin Maureen E
Fanconi anemia proteins are required to prevent accumulation of replication-associated DNA double-strand breaks.
Molecular and cellular biology 2006;26(2):425-37.
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2006: Levitus Marieke; Joenje Hans; de Winter Johan P
The Fanconi anemia pathway of genomic maintenance.
Cellular oncology : the official journal of the International Society for Cellular Oncology 2006;28(1-2):3-29.
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2005: Levitus Marieke; Waisfisz Quinten; Godthelp Barbara C; de Vries Yne; Hussain Shobbir; Wiegant Wouter W; Elghalbzouri-Maghrani Elhaam; Steltenpool Jûrgen; Rooimans Martin A; Pals Gerard; Arwert Fré; Mathew Christopher G; Zdzienicka Malgorzata Z; Hiom Kevin; De Winter Johan P; Joenje Hans
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Nature genetics 2005;37(9):934-5.
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2005: Meetei Amom Ruhikanta; Medhurst Annette L; Ling Chen; Xue Yutong; Singh Thiyam Ramsing; Bier Patrick; Steltenpool Jurgen; Stone Stacie; Dokal Inderjeet; Mathew Christopher G; Hoatlin Maureen; Joenje Hans; de Winter Johan P; Wang Weidong
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.
Nature genetics 2005;37(9):958-63.
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2005: Faivre Laurence; Portnoï Marie France; Pals Gerard; Stoppa-Lyonnet Dominique; Le Merrer Martine; Thauvin-Robinet Christel; Huet Frédéric; Mathew Christopher G; Joenje Hans; Verloes Alain; Baumann Clarisse
Should chromosome breakage studies be performed in patients with VACTERL association?
American journal of medical genetics. Part A 2005;137(1):55-8.
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2005: Alter Blanche P; Joenje Hans; Oostra Anneke B; Pals Gerard
Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism.
Archives of otolaryngology--head & neck surgery 2005;131(7):635-9.
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2005: Vega Hugo; Waisfisz Quinten; Gordillo Miriam; Sakai Norio; Yanagihara Itaru; Yamada Minoru; van Gosliga Djoke; Kayserili Hülya; Xu Chengzhe; Ozono Keiichi; Jabs Ethylin Wang; Inui Koji; Joenje Hans
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
Nature genetics 2005;37(5):468-70.
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2005: Morgan Neil V; Essop Fahmida; Demuth Ilja; de Ravel Thomy; Jansen Stander; Tischkowitz Marc; Lewis Cathryn M; Wainwright Linda; Poole Janet; Joenje Hans; Digweed Martin; Krause Amanda; Mathew Christopher G
A common Fanconi anemia mutation in black populations of sub-Saharan Africa.
Blood 2005;105(9):3542-4.
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2005: Meyer Stefan; Fergusson William D; Oostra Anneke B; Medhurst Annette L; Waisfisz Quinten; de Winter Johan P; Chen Fei; Carr Trevor F; Clayton-Smith Jill; Clancy Tara; Green Mike; Barber Lisa; Eden Osborn B; Will Andrew M; Joenje Hans; Taylor G Malcolm
A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.
Genes, chromosomes & cancer 2005;42(4):404-15.
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2005: Callén Elsa; Casado José A; Tischkowitz Marc D; Bueren Juan A; Creus Amadeu; Marcos Ricard; Dasí Angeles; Estella Jesús M; Muñoz Arturo; Ortega Juan J; de Winter Johan; Joenje Hans; Schindler Detlev; Hanenberg Helmut; Hodgson Shirley V; Mathew Christopher G; Surrallés Jordi
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.
Blood 2005;105(5):1946-9.
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2005: van Zeeburg Hester J T; Snijders Peter J F; Pals Gerard; Hermsen Mario A J A; Rooimans Martin A; Bagby Grover; Soulier Jean; Gluckman Eliane; Wennerberg Johan; Leemans C René; Joenje Hans; Brakenhoff Ruud H
Generation and molecular characterization of head and neck squamous cell lines of fanconi anemia patients.
Cancer research 2005;65(4):1271-6.
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2004: Alderton Gemma K; Joenje Hans; Varon Raymonda; Børglum Anders D; Jeggo Penny A; O'Driscoll Mark
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.
Human molecular genetics 2004;13(24):3127-38.
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2004: Meetei Amom Ruhikanta; Levitus Marieke; Xue Yutong; Medhurst Annette L; Zwaan Michel; Ling Chen; Rooimans Martin A; Bier Patrick; Hoatlin Maureen; Pals Gerard; de Winter Johan P; Wang Weidong; Joenje Hans
X-linked inheritance of Fanconi anemia complementation group B.
Nature genetics 2004;36(11):1219-24.
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2004: Chen F; Medhurst A L; de Winter J P; Waisfisz Q; Rooimans M A; Oostra A B; Meyer S; Zhang K J; Xia B; Pals G; Arwert F; Zwaan C M; Joenje H
Apparent absence of BRCA2 protein in a proportion of acute myeloid leukemia cell lines.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 2004;18(11):1918-20.
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2004: Léveillé France; Blom Eric; Medhurst Annette L; Bier Patrick; Laghmani El Houari; Johnson Mark; Rooimans Martin A; Sobeck Alexandra; Waisfisz Quinten; Arwert Fré; Patel K J; Hoatlin Maureen E; Joenje Hans; de Winter Johan P
The Fanconi anemia gene product FANCF is a flexible adaptor protein.
The Journal of biological chemistry 2004;279(38):39421-30.
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2004: van Zeeburg Hester J T; Snijders Peter J F; Joenje Hans; Brakenhoff Ruud H
Re: Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients.
Journal of the National Cancer Institute 2004;96(12):968; author reply 968-9.
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2004: Surrallés Jordi; Jackson Stephen P; Jasin Maria; Kastan Michael B; West Stephen C; Joenje Hans
Molecular cross-talk among chromosome fragility syndromes.
Genes & development 2004;18(12):1359-70.
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2004: Levitus Marieke; Rooimans Martin A; Steltenpool Jûrgen; Cool Nicolle F C; Oostra Anneke B; Mathew Christopher G; Hoatlin Maureen E; Waisfisz Quinten; Arwert Fré; de Winter Johan P; Joenje Hans
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes.
Blood 2004;103(7):2498-503.
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2004: Kalb Reinhard; Duerr Michael; Wagner Matthias; Herterich Sabine; Gross Michaela; Digweed Martin; Joenje Hans; Hoehn Holger; Schindler Detlev
Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation.
Radiation research 2004;161(3):318-25.
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2004: Blom Eric; van de Vrugt Henri J; de Vries Yne; de Winter Johan P; Arwert Fré; Joenje Hans
Multiple TPR motifs characterize the Fanconi anemia FANCG protein.
DNA repair 2004;3(1):77-84.
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2003: Tischkowitz Marc; Ameziane Najim; Waisfisz Quinten; De Winter Johan P; Harris Richard; Taniguchi Toshiyasu; D'Andrea Alan; Hodgson Shirley V; Mathew Christopher G; Joenje Hans
Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia.
British journal of haematology 2003;123(3):469-71.
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2003: Hölzel Michael; van Diest Paul J; Bier Patrick; Wallisch Michael; Hoatlin Maureen E; Joenje Hans; de Winter Johan P
FANCD2 protein is expressed in proliferating cells of human tissues that are cancer-prone in Fanconi anaemia.
The Journal of pathology 2003;201(2):198-203.
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2003: Reuter Tanja Y; Medhurst Annette L; Waisfisz Quinten; Zhi Yu; Herterich Sabine; Hoehn Holger; Gross Hans J; Joenje Hans; Hoatlin Maureen E; Mathew Christopher G; Huber Pia A J
Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport.
Experimental cell research 2003;289(2):211-21.
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2003: Meetei Amom Ruhikanta; de Winter Johan P; Medhurst Annette L; Wallisch Michael; Waisfisz Quinten; van de Vrugt Henri J; Oostra Anneke B; Yan Zhijiang; Ling Chen; Bishop Colin E; Hoatlin Maureen E; Joenje Hans; Wang Weidong
A novel ubiquitin ligase is deficient in Fanconi anemia.
Nature genetics 2003;35(2):165-70.
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2003: Savino Maria; Borriello Adriana; D'Apolito Maria; Criscuolo Maria; Del Vecchio Maria; Bianco Anna Monica; Di Perna Michele; Calzone Rita; Nobili Bruno; Zatterale Adriana; Zelante Leopoldo; Joenje Hans; Della Ragione Fulvio; Savoia Anna
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.
Human mutation 2003;22(4):338-9.
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2003: Ikeda Hideyuki; Matsushita Maiko; Waisfisz Quinten; Kinoshita Akitoshi; Oostra Anneke B; Nieuwint Aggie W M; De Winter Johan P; Hoatlin Maureen E; Kawai Yohko; Sasaki Masao S; D'Andrea Alan D; Kawakami Yutaka; Joenje Hans
Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2.
Cancer research 2003;63(10):2688-94.
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2003: Meetei Amom Ruhikanta; Sechi Salvatore; Wallisch Michael; Yang Dafeng; Young Mary K; Joenje Hans; Hoatlin Maureen E; Wang Weidong
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.
Molecular and cellular biology 2003;23(10):3417-26.
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2003: Taniguchi Toshiyasu; Tischkowitz Marc; Ameziane Najim; Hodgson Shirley V; Mathew Christopher G; Joenje Hans; Mok Samuel C; D'Andrea Alan D
Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors.
Nature medicine 2003;9(5):568-74.
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2002: Río Paula; Segovia José Carlos; Hanenberg Helmut; Casado José Antonio; Martínez Jesús; Göttsche Kerstin; Cheng Ngan Ching; Van de Vrugt Henri J; Arwert Fré; Joenje Hans; Bueren Juan A
In vitro phenotypic correction of hematopoietic progenitors from Fanconi anemia group A knockout mice.
Blood 2002;100(6):2032-9.
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2002: Godthelp Barbara C; Artwert Fré; Joenje Hans; Zdzienicka Malgorzata Z
Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1.
Oncogene 2002;21(32):5002-5.
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2002: Pace Paul; Johnson Mark; Tan Wu Meng; Mosedale Georgina; Sng Chelvin; Hoatlin Maureen; de Winter Johan; Joenje Hans; Gergely Fanni; Patel K J
FANCE: the link between Fanconi anaemia complex assembly and activity.
The EMBO journal 2002;21(13):3414-23.
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2002: Howlett Niall G; Taniguchi Toshiyasu; Olson Susan; Cox Barbara; Waisfisz Quinten; De Die-Smulders Christine; Persky Nicole; Grompe Markus; Joenje Hans; Pals Gerard; Ikeda Hideyuki; Fox Edward A; D'Andrea Alan D
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science (New York, N.Y.) 2002;297(5581):606-9.
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2002: van de Vrugt Henri J; Koomen Mireille; Berns Mariska A D; de Vries Yne; Rooimans Martin A; van der Weel Laura; Blom Eric; de Groot Jan; Schepers Rik J; Stone Stacie; Hoatlin Maureen E; Cheng Ngan Ching; Joenje Hans; Arwert Fré
Characterization, expression and complex formation of the murine Fanconi anaemia gene product Fancg.
Genes to cells : devoted to molecular & cellular mechanisms 2002;7(3):333-42.
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2002: Koomen Mireille; Cheng Ngan C; van de Vrugt Henri J; Godthelp Barbara C; van der Valk Martin A; Oostra Anneke B; Zdzienicka Malgorzata Z; Joenje Hans; Arwert Fré
Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice.
Human molecular genetics 2002;11(3):273-81.
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2002: Blom Eric; van de Vrugt Henri J; de Winter Johan P; Arwert Fré; Joenje Hans
Evolutionary clues to the molecular function of fanconi anemia genes.
Acta haematologica 2002;108(4):231-6.
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2001: Holmes R K; Harutyunyan K; Shah M; Joenje H; Youssoufian H
Correction of cross-linker sensitivity of Fanconi anemia group F cells by CD33-mediated protein transfer.
Blood 2001;98(13):3817-22.
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2001: Joenje H; Patel K J
The emerging genetic and molecular basis of Fanconi anaemia.
Nature reviews. Genetics 2001;2(6):446-57.
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2001: Tipping A J; Pearson T; Morgan N V; Gibson R A; Kuyt L P; Havenga C; Gluckman E; Joenje H; de Ravel T; Jansen S; Mathew C G
Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(10):5734-9.
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2001: Hermsen M A; Xie Y; Rooimans M A; Meijer G A; Baak J P; Plukker J T; Arwert F; Joenje H
Cytogenetic characteristics of oral squamous cell carcinomas in Fanconi anemia.
Familial cancer 2001;1(1):39-43.
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2000: Xie Y; de Winter J P; Waisfisz Q; Nieuwint A W; Scheper R J; Arwert F; Hoatlin M E; Ossenkoppele G J; Schuurhuis G J; Joenje H
Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells.
British journal of haematology 2000;111(4):1057-64.
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2000: Faivre L; Guardiola P; Lewis C; Dokal I; Ebell W; Zatterale A; Altay C; Poole J; Stones D; Kwee M L; van Weel-Sipman M; Havenga C; Morgan N; de Winter J; Digweed M; Savoia A; Pronk J; de Ravel T; Jansen S; Joenje H; Gluckman E; Mathew C G
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.
Blood 2000;96(13):4064-70.
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2000: Demuth I; Wlodarski M; Tipping A J; Morgan N V; de Winter J P; Thiel M; Gräsl S; Schindler D; D'Andrea A D; Altay C; Kayserili H; Zatterale A; Kunze J; Ebell W; Mathew C G; Joenje H; Sperling K; Digweed M
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
European journal of human genetics : EJHG 2000;8(11):861-8.
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2000: de Winter J P; van der Weel L; de Groot J; Stone S; Waisfisz Q; Arwert F; Scheper R J; Kruyt F A; Hoatlin M E; Joenje H
The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.
Human molecular genetics 2000;9(18):2665-74.
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2000: de Winter J P; Léveillé F; van Berkel C G; Rooimans M A; van Der Weel L; Steltenpool J; Demuth I; Morgan N V; Alon N; Bosnoyan-Collins L; Lightfoot J; Leegwater P A; Waisfisz Q; Komatsu K; Arwert F; Pronk J C; Mathew C G; Digweed M; Buchwald M; Joenje H
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
American journal of human genetics 2000;67(5):1306-8.
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2000: Joenje H; Levitus M; Waisfisz Q; D'Andrea A; Garcia-Higuera I; Pearson T; van Berkel C G; Rooimans M A; Morgan N; Mathew C G; Arwert F
Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A.
American journal of human genetics 2000;67(3):759-62.
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2000: Cheng N C; van de Vrugt H J; van der Valk M A; Oostra A B; Krimpenfort P; de Vries Y; Joenje H; Berns A; Arwert F
Mice with a targeted disruption of the Fanconi anemia homolog Fanca.
Human molecular genetics 2000;9(12):1805-11.
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2000: van de Vrugt H J; Cheng N C; de Vries Y; Rooimans M A; de Groot J; Scheper R J; Zhi Y; Hoatlin M E; Joenje H; Arwert F
Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary.
Mammalian genome : official journal of the International Mammalian Genome Society 2000;11(4):326-31.
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2000: de Winter J P; Rooimans M A; van Der Weel L; van Berkel C G; Alon N; Bosnoyan-Collins L; de Groot J; Zhi Y; Waisfisz Q; Pronk J C; Arwert F; Mathew C G; Scheper R J; Hoatlin M E; Buchwald M; Joenje H
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM.
Nature genetics 2000;24(1):15-6.
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1999: Morgan N V; Tipping A J; Joenje H; Mathew C G
High frequency of large intragenic deletions in the Fanconi anemia group A gene.
American journal of human genetics 1999;65(5):1330-41.
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1999: Carreau M; Alon N; Bosnoyan-Collins L; Joenje H; Buchwald M
Drug sensitivity spectra in Fanconi anemia lymphoblastoid cell lines of defined complementation groups.
Mutation research 1999;435(1):103-9.
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1999: Waisfisz Q; de Winter J P; Kruyt F A; de Groot J; van der Weel L; Dijkmans L M; Zhi Y; Arwert F; Scheper R J; Youssoufian H; Hoatlin M E; Joenje H
A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(18):10320-5.
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1999: Waisfisz Q; Morgan N V; Savino M; de Winter J P; van Berkel C G; Hoatlin M E; Ianzano L; Gibson R A; Arwert F; Savoia A; Mathew C G; Pronk J C; Joenje H
Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
Nature genetics 1999;22(4):379-83.
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1999: Waisfisz Q; Saar K; Morgan N V; Altay C; Leegwater P A; de Winter J P; Komatsu K; Evans G R; Wegner R D; Reis A; Joenje H; Arwert F; Mathew C G; Pronk J C; Digweed M
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
American journal of human genetics 1999;64(5):1400-5.
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1998: de Winter J P; Waisfisz Q; Rooimans M A; van Berkel C G; Bosnoyan-Collins L; Alon N; Carreau M; Bender O; Demuth I; Schindler D; Pronk J C; Arwert F; Hoehn H; Digweed M; Buchwald M; Joenje H
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
Nature genetics 1998;20(3):281-3.
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1998: Yamashita T; Kupfer G M; Naf D; Suliman A; Joenje H; Asano S; D'Andrea A D
The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(22):13085-90.
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1998: Joenje H; Arwert F; Kwee M L; Madan K; Hoehn H
Confounding factors in the diagnosis of Fanconi anaemia.
American journal of medical genetics 1998;79(5):403-5.
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1998: Saar K; Schindler D; Wegner R D; Reis A; Wienker T F; Hoehn H; Joenje H; Sperling K; Digweed M
Localisation of a Fanconi anaemia gene to chromosome 9p.
European journal of human genetics : EJHG 1998;6(5):501-8.
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1998: Pulsipher M; Kupfer G M; Naf D; Suliman A; Lee J S; Jakobs P; Grompe M; Joenje H; Sieff C; Guinan E; Mulligan R; D'Andrea A D
Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer.
Molecular medicine (Cambridge, Mass.) 1998;4(7):468-79.
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1998: Lo Ten Foe J R; Kruyt F A; Zweekhorst M B; Pals G; Gibson R A; Mathew C G; Joenje H; Arwert F
Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.
Human mutation 1998;Suppl 1():S25-7.
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1997: Savino M; Ianzano L; Strippoli P; Ramenghi U; Arslanian A; Bagnara G P; Joenje H; Zelante L; Savoia A
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.
American journal of human genetics 1997;61(6):1246-53.
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1997: Hermsen M A; Joenje H; Arwert F; Braakhuis B J; Baak J P; Westerveld A; Slater R
Assessment of chromosomal gains and losses in oral squamous cell carcinoma by comparative genomic hybridisation.
Oral oncology 1997;33(6):414-8.
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1997: Kruyt F A; Waisfisz Q; Dijkmans L M; Hermsen M A; Youssoufian H; Arwert F; Joenje H
Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells.
Blood 1997;90(9):3288-95.
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1997: Joenje H; Oostra A B; Wijker M; di Summa F M; van Berkel C G; Rooimans M A; Ebell W; van Weel M; Pronk J C; Buchwald M; Arwert F
Evidence for at least eight Fanconi anemia genes.
American journal of human genetics 1997;61(4):940-4.
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1997: Kruyt F A; Dijkmans L M; Arwert F; Joenje H
Involvement of the Fanconi's anemia protein FAC in a pathway that signals to the cyclin B/cdc2 kinase.
Cancer research 1997;57(11):2244-51.
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1997: Lo Ten Foe J R; Kwee M L; Rooimans M A; Oostra A B; Veerman A J; van Weel M; Pauli R M; Shahidi N T; Dokal I; Roberts I; Altay C; Gluckman E; Gibson R A; Mathew C G; Arwert F; Joenje H
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.
European journal of human genetics : EJHG 1997;5(3):137-48.
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1997: Kwee M L; van der Kleij J M; van Essen A J; Begeer J H; Joenje H; Arwert F; ten Kate L P
An atypical case of Fanconi anemia in elderly sibs.
American journal of medical genetics 1997;68(3):362-6.
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1997: Savoia A; Piemontese M R; Savino M; Zatterale A; Pronk J; Arwert F; Joenje H; Ramenghi U; Dagna-Bricarelli F; Dallapiccola B; Zelante L
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.
Human genetics 1997;99(1):93-7.
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1996: Foe J R; Rooimans M A; Bosnoyan-Collins L; Alon N; Wijker M; Parker L; Lightfoot J; Carreau M; Callen D F; Savoia A; Cheng N C; van Berkel C G; Strunk M H; Gille J J; Pals G; Kruyt F A; Pronk J C; Arwert F; Buchwald M; Joenje H
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Nature genetics 1996;14(4):488.
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1996: Lo Ten Foe J R; Rooimans M A; Bosnoyan-Collins L; Alon N; Wijker M; Parker L; Lightfoot J; Carreau M; Callen D F; Savoia A; Cheng N C; van Berkel C G; Strunk M H; Gille J J; Pals G; Kruyt F A; Pronk J C; Arwert F; Buchwald M; Joenje H
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Nature genetics 1996;14(3):320-3.
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1996: Lo ten Foe J R; Barel M T; Thuss P; Digweed M; Arwert F; Joenje H
Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.
Human genetics 1996;98(5):522-3.
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1996: Savoia A; Zatterale A; Del Principe D; Joenje H
Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters.
Human genetics 1996;97(5):599-603.
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1996: Yamashita T; Wu N; Kupfer G; Corless C; Joenje H; Grompe M; D'Andrea A D
Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.
Blood 1996;87(10):4424-32.
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1996: Hermsen M A; Meijer G A; Baak J P; Joenje H; Walboomers J J
Comparative genomic hybridization: a new tool in cancer pathology.
Human pathology 1996;27(4):342-9.
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1996: Jakobs P M; Sahaayaruban P; Saito H; Reifsteck C; Olson S; Joenje H; Moses R E; Grompe M
Immortalization of four new Fanconi anemia fibroblast cell lines by an improved procedure.
Somatic cell and molecular genetics 1996;22(2):151-7.
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1996: Kruyt F A; Dijkmans L M; van den Berg T K; Joenje H
Fanconi anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines.
Blood 1996;87(3):938-48.
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1996: Hermsen M A; Joenje H; Arwert F; Welters M J; Braakhuis B J; Bagnay M; Westerveld A; Slater R
Centromeric breakage as a major cause of cytogenetic abnormalities in oral squamous cell carcinoma.
Genes, chromosomes & cancer 1996;15(1):1-9.
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1996: Gille J J; Wientjes N M; Lafleur M V; Joenje H; Retèl J
Biological consequences of DNA damage introduced in bacteriophage PM2 DNA by hydrogen peroxide-mediated free radical reactions.
Carcinogenesis 1996;17(1):5-11.
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1996: Lo Ten Foe J R; Rooimans M A; Joenje H; Arwert F
Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC.
Human mutation 1996;7(3):264-5.
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1995: Steenbergen R D; Hermsen M A; Walboomers J M; Joenje H; Arwert F; Meijer C J; Snijders P J
Integrated human papillomavirus type 16 and loss of heterozygosity at 11q22 and 18q21 in an oral carcinoma and its derivative cell line.
Cancer research 1995;55(22):5465-71.
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1995: Whitney M; Thayer M; Reifsteck C; Olson S; Smith L; Jakobs P M; Leach R; Naylor S; Joenje H; Grompe M
Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p.
Nature genetics 1995;11(3):341-3.
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1995: Joenje H; Lo ten Foe J R; Oostra A B; van Berkel C G; Rooimans M A; Schroeder-Kurth T; Wegner R D; Gille J J; Buchwald M; Arwert F
Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.
Blood 1995;86(6):2156-60.
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1995: Van Rijn J; Van den Berg J; Souren J E; Van Wijk R; Joenje H
Hepatoma cells adapted to proliferate under normally lethal hyperthermic stress conditions show rapid decay of thermoresistance and heat shock protein synthesis when returned to 37 degrees C.
International journal of hyperthermia : the official journal of European Society for Hyperthermic Oncology, North American Hyperthermia Group 1995;11(5):697-708.
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1995: Joenje H; Youssoufian H; Kruyt F A; dos Santos C C; Wevrick R; Buchwald M
Expression of the Fanconi anemia gene FAC in human cell lines: lack of effect of oxygen tension.
Blood cells, molecules & diseases 1995;21(3):182-91.
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1995: Joenje H; Mathew C; Gluckman E
Fanconi anaemia research: current status and prospects.
European journal of cancer (Oxford, England : 1990) 1995;31A(2):268-72.
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1994: Gille J J; van Berkel C G; Joenje H
Mutagenicity of metabolic oxygen radicals in mammalian cell cultures.
Carcinogenesis 1994;15(12):2695-9.
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1994: van den Akker E; Lutgerink J T; Lafleur M V; Joenje H; Retèl J
The formation of one-G deletions as a consequence of single-oxygen-induced DNA damage.
Mutation research 1994;309(1):45-52.
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1994: Joenje H; Lo Ten Foe J R; Arwert F; ten Kate L P
Complementation testing and genetic classification of Fanconi's anaemia.
Lancet 1994;343(8901):862.
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1993: Retèl J; Hoebee B; Braun J E; Lutgerink J T; van den Akker E; Wanamarta A H; Joenje H; Lafleur M V
Mutational specificity of oxidative DNA damage.
Mutation research 1993;299(3-4):165-82.
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1993: Lutgerink J T; van den Akker E; Pachen D; Smeets E J; van Dijk P; Aubry J M; Joenje H; Lafleur M V; Retèl J
Singlet oxygen-induced DNA damage: product analysis, studies of biological consequences and characterization of mutations.
IARC scientific publications 1993;(124):115-25.
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1993: Gille J J; van Berkel C G; Joenje H
Mechanism of hyperoxia-induced chromosomal breakage in Chinese hamster cells.
Environmental and molecular mutagenesis 1993;22(4):264-70.
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1992: Pruijn F B; Schoonen W G; Joenje H
Inactivation of mitochondrial metabolism by hyperoxia-induced oxidative stress.
Annals of the New York Academy of Sciences 1992;663():453-5.
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1992: Gille J J; Joenje H
Cell culture models for oxidative stress: superoxide and hydrogen peroxide versus normobaric hyperoxia.
Mutation research 1992;275(3-6):405-14.
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1992: Lutgerink J T; van den Akker E; Smeets I; Pachen D; van Dijk P; Aubry J M; Joenje H; Lafleur M V; Retèl J
Interaction of singlet oxygen with DNA and biological consequences.
Mutation research 1992;275(3-6):377-86.
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1992: Nieuwint A W; Baas F; Wiegant J; Joenje H
Cytogenetic alterations associated with P-glycoprotein- and non-P-glycoprotein-mediated multidrug resistance in SW-1573 human lung tumor cell lines.
Cancer research 1992;52(16):4361-71.
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1992: Gille J J; van Berkel C G; Joenje H
Effect of iron chelators on the cytotoxic and genotoxic action of hyperoxia in Chinese hamster ovary cells.
Mutation research 1992;275(1):31-9.
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1991: Gille J J; Pasman P; van Berkel C G; Joenje H
Effect of antioxidants on hyperoxia-induced chromosomal breakage in Chinese hamster ovary cells: protection by carnosine.
Mutagenesis 1991;6(4):313-8.
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1991: Schoonen W G; Wanamarta A H; van der Klei-van Moorsel J M; Jakobs C; Joenje H
Characterization of oxygen-resistant Chinese hamster ovary cells. III. Relative resistance of succinate and alpha-ketoglutarate dehydrogenases to hyperoxic inactivation.
Free radical biology & medicine 1991;10(2):111-8.
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1990: Baas F; Jongsma A P; Broxterman H J; Arceci R J; Housman D; Scheffer G L; Riethorst A; van Groenigen M; Nieuwint A W; Joenje H
Non-P-glycoprotein mediated mechanism for multidrug resistance precedes P-glycoprotein expression during in vitro selection for doxorubicin resistance in a human lung cancer cell line.
Cancer research 1990;50(17):5392-8.
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1990: Schoonen W G; Wanamarta A H; van der Klei-van Moorsel J M; Jakobs C; Joenje H
Respiratory failure and stimulation of glycolysis in Chinese hamster ovary cells exposed to normobaric hyperoxia.
The Journal of biological chemistry 1990;265(19):1118-24.
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1990: Schoonen W G; Wanamarta A H; van der Klei-van Moorsel J M; Jakobs C; Joenje H
Hyperoxia-induced clonogenic killing of HeLa cells associated with respiratory failure and selective inactivation of Krebs cycle enzymes.
Mutation research 1990;237(3-4):173-81.
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1990: Keizer H G; Pinedo H M; Schuurhuis G J; Joenje H
Doxorubicin (adriamycin): a critical review of free radical-dependent mechanisms of cytotoxicity.
Pharmacology & therapeutics 1990;47(2):219-31.
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1989: Gille J J; van Berkel C G; Mullaart E; Vijg J; Joenje H
Effects of lethal exposure to hyperoxia and to hydrogen peroxide on NAD(H) and ATP pools in Chinese hamster ovary cells.
Mutation research 1989;214(1):89-96.
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1989: Gille J J; Joenje H
Chromosomal instability and progressive loss of chromosomes in HeLa cells during adaptation to hyperoxic growth conditions.
Mutation research 1989;219(4):225-30.
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1989: Joenje H
Genetic toxicology of oxygen.
Mutation research 1989;219(4):193-208.
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1989: Keizer H G; De Leeuw S J; Van Rijn J; Pinedo H M; Joenje H
Effect of artificial electron acceptors on the cytotoxicity of mitomycin C and doxorubicin in human lung tumor cells.
European journal of cancer & clinical oncology 1989;25(7):1113-8.
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1989: Keizer H G; Schuurhuis G J; Broxterman H J; Lankelma J; Schoonen W G; van Rijn J; Pinedo H M; Joenje H
Correlation of multidrug resistance with decreased drug accumulation, altered subcellular drug distribution, and increased P-glycoprotein expression in cultured SW-1573 human lung tumor cells.
Cancer research 1989;49(11):2988-93.
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1989: Gille J J; Mullaart E; Vijg J; Leyva A L; Arwert F; Joenje H
Chromosomal instability in an oxygen-tolerant variant of Chinese hamster ovary cells.
Mutation research 1989;219(1):17-28.
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1989: Wanamarta A H; van Rijn J; Blank L E; Haveman J; van Zandwijk N; Joenje H
Effect of N-acetylcysteine on the antiproliferative action of X-rays or bleomycin in cultured human lung tumor cells.
Journal of cancer research and clinical oncology 1989;115(4):340-4.
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1988: Van der Bliek A M; Baas F; Van der Velde-Koerts T; Biedler J L; Meyers M B; Ozols R F; Hamilton T C; Joenje H; Borst P
Genes amplified and overexpressed in human multidrug-resistant cell lines.
Cancer research 1988;48(21):5927-32.
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1988: Keizer H G; van Rijn J; Pinedo H M; Joenje H
Effect of endogenous glutathione, superoxide dismutases, catalase, and glutathione peroxidase on adriamycin tolerance of Chinese hamster ovary cells.
Cancer research 1988;48(16):4493-7.
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1988: van der Valk P; Gille J J; van der Plas L H; Jongkind J F; Verkerk A; Konings A W; Joenje H
Characterization of oxygen-tolerant Chinese hamster ovary cells. II. Energy metabolism and antioxidant status.
Free radical biology & medicine 1988;4(6):345-56.
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1988: Gille J J; Wortelboer H M; Joenje H
Effect of normobaric hyperoxia on antioxidant defenses of HeLa and CHO cells.
Free radical biology & medicine 1988;4(2):85-91.
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1987: Gille J J; Wortelboer H M; Joenje H
Antioxidant status of Fanconi anemia fibroblasts.
Human genetics 1987;77(1):28-31.
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1987: Joenje H; Nieuwint A W; Oostra A B; Arwert F; de Koning H; Roozendaal K J
Cytogenetic toxicity of paraquat and streptonigrin in Fanconi's anemia.
Cancer genetics and cytogenetics 1987;25(1):37-45.
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1987: Joenje H; Nieuwint A W; Taylor A M; Harnden D G
Oxygen toxicity and chromosomal breakage in ataxia telangiectasia.
Carcinogenesis 1987;8(2):341-4.
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1987: Lafleur M V; Nieuwint A W; Aubry J M; Kortbeek H; Arwert F; Joenje H
DNA damage by chemically generated singlet oxygen.
Free radical research communications 1987;2(4-6):343-50.
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1986: Joenje H; Oostra A B
Oxygen-induced cytogenetic instability in normal human lymphocytes.
Human genetics 1986;74(4):438-40.
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1986: Joenje H; Oostra A B
Clastogenicity of cyclophosphamide in Fanconi's anemia lymphocytes without exogenous metabolic activation.
Cancer genetics and cytogenetics 1986;22(4):339-45.
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1985: Joenje H; Gille J J; Oostra A B; Van der Valk P
Some characteristics of hyperoxia-adapted HeLa cells. A tissue culture model for cellular oxygen tolerance.
Laboratory investigation; a journal of technical methods and pathology 1985;52(4):420-8.
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1985: Poll E H; Arwert F; Joenje H; Wanamarta A H
Differential sensitivity of Fanconi anaemia lymphocytes to the clastogenic action of cis-diamminedichloroplatinum (II) and trans-diamminedichloroplatinum (II).
Human genetics 1985;71(3):206-10.
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1985: Nieuwint A W; Aubry J M; Arwert F; Kortbeek H; Herzberg S; Joenje H
Inability of chemically generated singlet oxygen to break the DNA backbone.
Free radical research communications 1985;1(1):1-9.
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1983: Joenje H; Oostra A B; Wanamarta A H
Cytogenetic toxicity of D2O in human lymphocyte cultures. Increased sensitivity in Fanconi's anemia.
Experientia 1983;39(7):782-4.
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1983: Joenje H; Oostra A B
Effect of oxygen tension on chromosomal aberrations in Fanconi anaemia.
Human genetics 1983;65(2):99-101.
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1983: Kwee M L; Poll E H; van de Kamp J J; de Koning H; Eriksson A W; Joenje H
Unusual response to bifunctional alkylating agents in a case of Fanconi anaemia.
Human genetics 1983;64(4):384-7.
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1982: Poll E H; Arwert F; Joenje H; Eriksson A W
Cytogenetic toxicity of antitumor platinum compounds in Fanconi's anemia.
Human genetics 1982;61(3):228-30.
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1981: Joenje H; Arwert F; Eriksson A W; de Koning H; Oostra A B
Oxygen-dependence of chromosomal aberrations in Fanconi's anaemia.
Nature 1981;290(5802):142-3.
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