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Piero Giordano

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

TOP 3
Van Delft P; Lenters E; Bakker-Verweij M; de Korte M; Baylan U; Harteveld C L; Giordano P C
Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations.
Phylipsen Marion; Amato Antonio; Cappabianca Maria Pia; Traeger-Synodinos Jan; Kanavakis Emmanuel; Basak Nazli; Galanello Renzo; Tuveri Teresa; Ivaldi Giovanni; Harteveld Cornelis L; Giordano Piero C
Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.
van Zwieten Rob; Kaufmann Judith O; Vuil Herma; Kouwenberg Jan; Verhoeven Arthur J; Fogelberg Kea; Harteveld Cornelis L; Giordano Piero C
Hb Nile[A1] and Hb Nile[A2]: novel identical [alpha77(EF6)Pro-->Ser] variants found in either the alpha1- or alpha2-globin genes.

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All Publications

2009: Van Delft P; Lenters E; Bakker-Verweij M; de Korte M; Baylan U; Harteveld C L; Giordano P C
Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations.
International journal of laboratory hematology 2009;31(5):484-95.
2009: Phylipsen Marion; Amato Antonio; Cappabianca Maria Pia; Traeger-Synodinos Jan; Kanavakis Emmanuel; Basak Nazli; Galanello Renzo; Tuveri Teresa; Ivaldi Giovanni; Harteveld Cornelis L; Giordano Piero C
Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.
Haematologica 2009;94(9):1289-92.
2009: van Zwieten Rob; Kaufmann Judith O; Vuil Herma; Kouwenberg Jan; Verhoeven Arthur J; Fogelberg Kea; Harteveld Cornelis L; Giordano Piero C
Hb Nile[A1] and Hb Nile[A2]: novel identical [alpha77(EF6)Pro-->Ser] variants found in either the alpha1- or alpha2-globin genes.
Hemoglobin 2009;33(3):188-95.
2009: Lederer Carsten W; Basak A Nazli; Aydinok Yesim; Christou Soteroula; El-Beshlawy Amal; Eleftheriou Androulla; Fattoum Slaheddine; Felice Alex E; Fibach Eitan; Galanello Renzo; Gambari Roberto; Gavrila Lucian; Giordano Piero C; Grosveld Frank; Hassapopoulou Helen; Hladka Eva; Kanavakis Emmanuel; Locatelli Franco; Old John; Patrinos George P; Romeo Giovanni; Taher Ali; Traeger-Synodinos Joanne; Vassiliou Panayiotis; Villegas Ana; Voskaridou Ersi; Wajcman Henri; Zafeiropoulos Anastasios; Kleanthous Marina
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.
Hemoglobin 2009;33(3):163-76.
2009: Giordano Piero C; Bakker-Verwij Margaretha; Harteveld Cornelis L
Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations.
Hemoglobin 2009;33(2):124-31.
2008: Zanella-Cleon Isabelle; Becchi Michel; Lacan Philippe; Giordano Piero C; Wajcman Henri; Francina Alain
Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography.
Clinical chemistry 2008;54(6):1053-9.
2008: Harteveld C L; Refaldi C; Cassinerio E; Cappellini M D; Giordano P C
Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.
Blood cells, molecules & diseases 2008;40(3):312-6.
2008: Harteveld Cornelis L; Wijermans Pierre W; Arkesteijn Sandra G J; Van Delft Peter; Kerkhoffs Jean-Louis; Giordano Piero C
Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype.
Hemoglobin 2008;32(5):446-53.
2008: Moradkhani Kamran; Mazurier Elodie; Giordano Piero C; Wajcman Henri; Préhu Claude
An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene.
Hemoglobin 2008;32(4):419-24.
2008: Wajcman Henri; Traeger-Synodinos Jan; Papassotiriou Ioannis; Giordano Piero C; Harteveld Cornelis L; Baudin-Creuza Véronique; Old John
Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.
Hemoglobin 2008;32(4):327-49.
2008: van den Ouweland Johannes M W; van Daal Henny; Klaassen Corné H; van Aarssen Yvonne; Harteveld Cornelis L; Giordano Piero C
The silent hemoglobin alpha chain variant Hb Riccarton [alpha51(CE9)Gly-->Ser] may affect HbA1c determination on the HLC-723 G7 analyzer.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2008;46(6):827-30.
2007: Harteveld Cornelis L; Kriek Marjolein; Bijlsma Emilia K; Erjavec Zoran; Balak Deepak; Phylipsen Marion; Voskamp Astrid; di Capua Emmanora; White Stefan J; Giordano Piero C
Refinement of the genetic cause of ATR-16.
Human genetics 2007;122(3-4):283-92.
2007: Leers Mathie P G; Pelikan Harold M P; Salemans Tom H B; Giordano Piero C; Scharnhorst Volkher
Discriminating fetomaternal hemorrhage from maternal HbF-containing erythrocytes by dual-parameter flow cytometry.
European journal of obstetrics, gynecology, and reproductive biology 2007;134(1):127-9.
2007: Nooitgedagt J E; Harteveld C L; Starreveld J S; Versteegh F G A; Giordano P C
A new deletion defect leading to alpha-thalassaemia in a large Dutch Caucasian family.
British journal of haematology 2007;136(4):662-5.
2007: Harteveld Cornelis L; van Helden Willem C H; Boxma George L; van Delft Peter; Bakker-Verweij Margaretha; Wajcman Henri; Zanella-Cleon Isabelle; Becchi Michel; Giordano Piero C
Hb Zoetermeer: a new mutation on the alpha2 gene inducing an Ala-->Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype.
Hemoglobin 2007;31(3):325-32.
2007: Harteveld Cornelis L; Versteegh Florens G A; van Leer Eduard H G; Starreveld Jaap S; Kok Peter J M J; van Rooijen-Nijdam Irene; van Delft Peter; Zanella-Cleon Isabelle; Becchi Michel; Wajcman Henri; Giordano Piero C
Hb St. Jozef, A Val-->Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in Cis with a -alpha3.7 thalassemia deletion.
Hemoglobin 2007;31(3):313-23.
2007: Cremonesi Laura; Ferrari Maurizio; Giordano Piero C; Harteveld Cornelis L; Kleanthous Marina; Papasavva Thessalia; Patrinos George P; Traeger-Synodinos Joanne
An overview of current microarray-based human globin gene mutation detection methods.
Hemoglobin 2007;31(3):289-311.
2007: Giordano Piero C; Zweegman Sonja; Akkermans Nicole; Arkesteijn Sandra G J; van Delft Peter; Versteegh Florens G A; Wajcman Henri; Harteveld Cornelis L
The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant.
Hemoglobin 2007;31(2):179-82.
2007: Giordano Piero C; Addo-Daaku Akosua; Sander Margaretha J; van Rooijen-Nijdam Irene; van Delft Peter; Harteveld Cornelis L; Kok Peter J M J
The rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination.
Hemoglobin 2007;31(2):167-71.
2006: Giordano Piero C; Maatman R G H J; Niessen R W L M; van Delft Peter; Harteveld Cornelis L
Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient.
Haematologica 2006;91(12 Suppl):ECR56.
2006: Giordano P C; Plancke A; Van Meir C A; Janssen C A H; Kok P J M J; Van Rooijen-Nijdam I H; Tanis B C; van Huisseling J C M; Versteegh F G A
Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study.
Prenatal diagnosis 2006;26(8):719-24.
2006: Slomp J; Bosschaart A; Dousma M; van Zwieten R; Giordano P C; van den Bergh F A J T M
[Acute anaemia in a Vietnamese patient with alpha-thalassaemia and a parvovirus infection]
Nederlands tijdschrift voor geneeskunde 2006;150(28):1577-82.
2006: Viprakasit Vip; Harteveld Cornelis L; Ayyub Helena; Stanley Jackie S; Giordano Piero C; Wood William G; Higgs Douglas R
A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element.
Blood 2006;107(9):3811-2.
2006: Harteveld Cornelis L; Steen Gerard; Vlasveld L Thomas; van Delft Peter; Giordano Piero C
Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype.
Haematologica 2006;91(4):570-1.
2006: Bouva Marelle J; Harteveld Cornelis L; van Delft Peter; Giordano Piero C
Known and new delta globin gene mutations and their diagnostic significance.
Haematologica 2006;91(1):129-32.
2006: Bouva Marelle J; Harteveld Cornelis L; Bakker-Verweij Greet; van Delft Peter; Giordano Piero C
Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia.
Hemoglobin 2006;30(3):371-7.
2006: Harteveld Cornelis L; Versteegh Florens G A; Kok Peter J M J; van Rooijen-Nijdam Irene H; van Delft Peter; Giordano Piero C
Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.
Hemoglobin 2006;30(3):349-54.
2006: Eng Barry; Patterson Margie; Walker Lynda; Hoppe Carolyn; Azimi Mahin; Lee Helen; Giordano Piero C; Waye John S
Three new alpha-thalassemia point mutations ascertained through newborn screening.
Hemoglobin 2006;30(2):149-53.
2006: Harteveld Cornelis L; Jebbink Max C W; van der Lely Nico; van Delft Peter; Akkermans Nicole; Arkesteyn Sandra; Giordano Piero C
Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene.
Hemoglobin 2006;30(1):3-7.
2005: Harteveld C L; Voskamp A; Phylipsen M; Akkermans N; den Dunnen J T; White S J; Giordano P C
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.
Journal of medical genetics 2005;42(12):922-31.
2005: Giordano Piero C; Dihal Ashwin A; Harteveld Cornelis L
Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies.
Prenatal diagnosis 2005;25(10):885-93.
2005: Giordano Piero C; Bouva Marelle J; Van Delft Peter; Akkerman Nicole; Kappers-Klunne Mies C; Harteveld Cornelis L
A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype.
Haematologica 2005;90(4):551-2.
2005: van der Padt Annemiek; Bouva Marelle; Auwerda Johannes J A; Dees Adriaan; Harteveld Cornelis L; Giordano Piero C
Adult onset of a Thalassemia intermedia genotype in association with a -alpha-3.7 homozygosity. Hb G-Accra [beta73(e17)Asp-->Asn] in combination with beta- and alpha-thalassemia in the same family.
Hemoglobin 2005;29(4):269-76.
2005: Harteveld Cornelis L; Vervloet Mark; Zweegman Sonja; van Delft Peter; Akkermans Nicole; Arkestijn Sandra; Giordano Piero C
Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism.
Hemoglobin 2005;29(4):257-62.
2005: Harteveld Cornelis L; Rozendaal Lieke; Blom Nico A; Lo-A-Njoe Shirley; Akkerman Nicole; Arkestijn Sandra; Van Delft Peter; Giordano Piero C
Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.
Hemoglobin 2005;29(3):165-9.
2005: Harteveld Cornelis L; Thelen Marc H M; Rutten Johannes J A; Leuverman Jolanda; Akkermans Nicole; van Delft Peter; Arkesteijn Sandra; Giordano Piero C
Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient.
Hemoglobin 2005;29(2):107-12.
2005: Yavarian Majid; Karimi Mehran; Zorai Amine; Harteveld Cornelis L; Giordano Piero C
Molecular basis of Hb H disease in southwest Iran.
Hemoglobin 2005;29(1):43-50.
2005: Harteveld Cornelis L; Groeneveld J H Marc; van Dam Bastiaan; Van Delft Peter; Akkerman Nicole; Arkesteijn Sandra; Giordano Piero C
Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis.
Hemoglobin 2005;29(1):11-7.
2004: Yavarian Majid; Karimi Mehran; Bakker Egbert; Harteveld Cornelis L; Giordano Piero C
Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.
Haematologica 2004;89(10):1172-8.
2004: Harteveld Cornelis L; Wijermans Pierre W; van Delft Peter; Rasp Ellen; Haak Hans L; Giordano Piero C
An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene.
Hemoglobin 2004;28(3):255-9.
2004: Harteveld Cornelis L; Van Delft Peter; Akkermans Nicole; Arkesteijn Sandra; Van Rooijen-Nijdam Irene H; Kok Peter J M J; Versteegh Florens G A; Giordano Piero C
Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity.
Hemoglobin 2004;28(3):223-7.
2004: Regtuijt Marlies E; Harteveld Cornelis L; Van Delft Peter; Akkermans Nicole; Giordano Piero C
Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry.
Hemoglobin 2004;28(3):173-6.
2004: van Moorsel Coline H M; van Wijngaarden Erwin E; Fokkema Ivo F A C; den Dunnen Johan T; Roos Dirk; van Zwieten Rob; Giordano Piero C; Harteveld Cornelis L
beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.
European journal of human genetics : EJHG 2004;12(7):567-73.
2004: Harteveld Cornelis L; Wijermans Pierre W; de Ree Juliette E L M; Ter Hal Pauline; Van Delft Peter; Van Rooijen-Nijdam Irene H; Rasp Ellen; Kok Peter J M J; Souverijn John H M; Versteegh Florens G A; Giordano Piero C
A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.
Hemoglobin 2004;28(1):1-5.
2004: Giordano Piero C; Bouva Marelle J; Harteveld Cornelis L
A confidential inquiry estimating the number of patients affected with sickle cell disease and thalassemia major confirms the need for a prevention strategy in the Netherlands.
Hemoglobin 2004;28(4):287-96.
2004: Karimi Mehran; Yavarian Majid; Delbini Paola; Harteveld Cornelis L; Farjadian Shirin; Fiorelli Gemino; Giordano Piero C
Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous.
The hematology journal : the official journal of the European Haematology Association / EHA 2004;5(6):524-7.
2003: Harteveld C L; Yavarian M; Zorai A; Quakkelaar E D; van Delft P; Giordano P C
Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects.
American journal of hematology 2003;74(2):99-103.
2003: Harteveld Cornelis L; Osborne Cameron S; Peters Marjolein; van der Werf Steffie; Plug Rob; Fraser Peter; Giordano Piero C
Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family.
British journal of haematology 2003;122(5):855-8.
2003: Ball L M; Lankester A C; Giordano P C; van Weel M H; Harteveld C L; Bredius R G M; Smiers F J; Egeler R M; Vossen J M J J
Paediatric allogeneic bone marrow transplantation for homozygous beta-thalassaemia, the Dutch experience.
Bone marrow transplantation 2003;31(12):1081-7.
2003: Harteveld Cornelis L; Van Lom Kirsten; Gomez Garcia Encarna B; van Delft Peter; Giordano Piero C
The Dutch IVS-I-116 (A --> G) (alpha2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha3.7 deletion defect.
Hemoglobin 2003;27(1):49-51.
2003: Harteveld Cornelis L; van Delft Peter; Wijermans Pierre W; Kappers-Klunne Mies C; Weegenaar Jitske; Losekoot Monique; Giordano Piero C
A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin.
British journal of haematology 2003;120(2):364-6.
2003: Zorai Amine; Harteveld Cornelis L; Rachdi Radhouane; Dellagi Koussay; Abbes Salem; Delbini Paola; Giordano Piero C
Frequency and spectrum of hemochromatosis mutations in Tunisia.
The hematology journal : the official journal of the European Haematology Association / EHA 2003;4(6):433-5.
2002: Zorai Amine; Harteveld Cornelis L; Bakir Achech; Van Delft Peter; Falfoul Abdelaziz; Dellagi Koussay; Abbes Salem; Giordano Piero C
Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth.
Hemoglobin 2002;26(4):353-62.
2002: Harteveld Cornelis L; van Delft Peter; Plug Rob; Versteegh Florens G A; Hagen Balt; van Rooijen Irene; Kok Peter J M J; Wajcman Henri; Kister Jean; Giordano Piero C
Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype.
Hemoglobin 2002;26(3):255-60.
2002: Harteveld Cornelis L; Van Delft Peter; Plug Robert J; Erjavec Zoran; Wajcman Henri; Giordano Piero C
Hb delfzicht [alpha9(A7)Asn-->Lys (alpha1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient.
Hemoglobin 2002;26(2):181-4.
2002: Karimi Mehran; Yarmohammadi Hooman; Farjadian Shirin; Zeinali Sirus; Moghaddam Zahra; Cappellini Maria D; Giordano Piero C
Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele.
Hemoglobin 2002;26(2):147-54.
2002: Elion-Gerritzen W E; Giordano P C; Haak H L
[The 'Anemia in the midwife practice' standard issued by the Royal Dutch Organisation of Midwives: a risk of not recognizing iron deficiency and hemoglobinopathy]
Nederlands tijdschrift voor geneeskunde 2002;146(10):457-9.
2001: Harteveld C; Plug R J; Van Delft P; Van Helden W C; Giordano P C
Hb 't Lange Land [beta136(H14)Gly --> Arg]: a new hemoglobin variant described in a Dutch patient of Chinese origin.
Hemoglobin 2001;25(3):331-6.
2001: Yavarian M; Harteveld C L; Batelaan D; Bernini L F; Giordano P C
Molecular spectrum of beta-thalassemia in the Iranian Province of Hormozgan.
Hemoglobin 2001;25(1):35-43.
2000: Harteveld C L; Beijer C; van Delft P; Zanardini R; Bernini L F; Giordano P C
alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene.
British journal of haematology 2000;110(3):694-8.
2000: Kerkhoffs J L; Harteveld C L; Wijermans P; van Delft P; Haak H L; Bernini L F; Giordano P C
Very mild pathology in a case of Hb S/beta0-thalassemia in combination with a homozygosity for the alpha-thalassemia 3.7 kb deletion.
Hemoglobin 2000;24(3):259-63.
1999: Van Weel M; Harteveld C L; Bernini L F; Brouwers T M; Giordano P C
The second case of dominant beta-thalassemia induced by the codon 127 (CAG-->TAG) described as a de novo mutation in a Dutch boy.
Hemoglobin 1999;23(4):389-93.
1999: Traeger-Synodinos J; Harteveld C L; Kanavakis E; Giordano P C; Kattamis C; Bernini L F
Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia.
Hemoglobin 1999;23(4):317-24.
1999: Giordano P C; Van Delft P; Batelaan D; Harteveld C L; Bernini L F
Haemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method.
Clinical and laboratory haematology 1999;21(4):247-56.
1999: Giordano P C; Harteveld C L; Bernini L F; Doorduijn J K; Geenen A A; Kok P J; Versteegh F G
Haplotype analysis of two new, independent cases of Hb Osu-Christiansborg.
Hemoglobin 1999;23(2):193-5.
1999: van den Berg H M; Bruin M C; Batelaan D; van Delft P; van Zwieten R; Roos D; Harteveld C L; Bernini L F; Giordano P C
Hb Nijkerk: a new mutation at codons 138/139 of the beta-globin gene inducing severe hemolytic anemia in a Dutch girl.
Hemoglobin 1999;23(2):135-44.
1999: Giordano P C; Harteveld C L; Bok L A; van Delft P; Batelaan D; Beemer F A; Bernini L F
A complex haemoglobinopathy diagnosis in a family with both beta zero- and alpha (zero/+)-thalassaemia homozygosity.
European journal of human genetics : EJHG 1999;7(2):163-8.
1998: Giordano P C; Harteveld C L; Michiels J J; Terpstra W; Schelfhout L J; Appel I M; Batelaan D; van Delft P; Plug R J; Bernini L F
Phenotype variability of the dominant beta-thalassemia induced in four Dutch families by the rare cd121 (G-->T) mutation.
Annals of hematology 1998;77(6):249-55.
1998: Giordano P C; Harteveld C L; Haak H L; Batelaan D; van Delft P; Plug R J; Emonts M; Zanardini R; Bernini L F
A case of non-beta-globin gene linked beta thalassaemia in a Dutch family with two additional alpha-gene defects: the common -alpha3.7 deletion and the rare IVS1-116 (A-->G) acceptor splice site mutation.
British journal of haematology 1998;103(2):370-6.
1998: Giordano P C; Harteveld C L; Heister A J; Batelaan D; van Delft P; Plug R; Losekoot M; Bernini L F
The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous dutch population.
Community genetics 1998;1(4):243-51.
1997: Harteveld K L; Losekoot M; Heister A J; van der Wielen M; Giordano P C; Bernini L F
alpha-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations.
Human genetics 1997;100(3-4):465-71.
1997: Harteveld K L; Losekoot M; Fodde R; Giordano P C; Bernini L F
The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints.
Human genetics 1997;99(4):528-34.
1997: Giordano P C; Harteveld C L; Michiels J J; Terpstra W; Batelaan D; van Delft P; Plug R J; van der Wielen M J; Losekoot M; Bernini L F
Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -alpha 3.7 deletions with HbC heterozygosity.
British journal of haematology 1997;96(4):801-5.
1996: Harteveld C L; Heister J G; Giordano P C; Batelaan D; von Delft P; Haak H L; Wijermans P W; Losekoot M; Bernini L F
An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families.
British journal of haematology 1996;95(3):461-6.
1996: Aygün V; van Zwieten R; Pronk-Admiraal C J; Ponjee G A; de Regt J; Harteveld C L; Giordano P C; Roos D
A Dutch family with Hb Atlanta [beta 75(E19)Leu-->Pro]
Hemoglobin 1996;20(4):351-9.
1996: Rosetto M; Manetti A G; Giordano P C; Marri L; Amons R; Baldari C T; Marchini D; Dallai R
Molecular characterization of ceratotoxin C, a novel antibacterial female-specific peptide of the ceratotoxin family from the medfly Ceratitis capitata.
European journal of biochemistry / FEBS 1996;241(2):330-7.
1996: Giordano P C; Harteveld C L; Brand A; Willems L N; Kluin-Nelemans H C; Plug R J; Batelaan D N; Bernini L F
Hb Malmö [beta-97(FG-4)His-->Gln] leading to polycythemia in a Dutch family.
Annals of hematology 1996;73(4):183-8.
1996: Harteveld C L; Giordano P C; Losekoot M; Heister J G; Batelaan D; van Delft P; Bruin M C; Bernini L F
Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype.
British journal of haematology 1996;94(3):483-5.
1996: Peters D J; Spruit L; Klingel R; Prins F; Baelde H J; Giordano P C; Bernini L F; de Heer E; Breuning M H; Bruijn J A
Adult, fetal, and polycystic kidney expression of polycystin, the polycystic kidney disease-1 gene product.
Laboratory investigation; a journal of technical methods and pathology 1996;75(2):221-30.
1996: Giordano P C; Harteveld C L; Kok P J; Geenen A; Batelaan D; Amons R; Bemini L F
HB Gouda [alpha 72(EF1)His-->Gln], a new silent alpha chain variant.
Hemoglobin 1996;20(1):21-9.
1996: Harteveld K L; Heister A J; Giordano P C; Losekoot M; Bernini L F
Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA.
Human mutation 1996;7(2):114-22.
1994: Harteveld C L; Losekoot M; Haak H; Heister G A; Giordano P C; Bernini L F
A novel polyadenylation signal mutation in the alpha 2-globin gene causing alpha thalassaemia.
British journal of haematology 1994;87(1):139-43.
1994: Giordano P C; Harteveld C L; Streng H; Oosterwijk J C; Heister J G; Amons R; Bernini L F
Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia.
Hemoglobin 1994;18(1):11-8.
1993: Marchini D; Giordano P C; Amons R; Bernini L F; Dallai R
Purification and primary structure of ceratotoxin A and B, two antibacterial peptides from the female reproductive accessory glands of the medfly Ceratitis capitata (Insecta:Diptera).
Insect biochemistry and molecular biology 1993;23(5):591-8.
1992: Losekoot M; van Heeren H; Schipper J J; Giordano P C; Bernini L F; Fodde R
Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis.
Journal of medical genetics 1992;29(8):574-7.
1992: Losekoot M; Fodde R; Giordano P C
[Hemoglobinopathies, screening and molecular-genetic studies in foreign women in The Netherlands]
Nederlands tijdschrift voor geneeskunde 1992;136(30):1477-8.
1991: Losekoot M; Fodde R; Harteveld C L; van Heeren H; Giordano P C; Went L N; Bernini L F
Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.
Journal of medical genetics 1991;28(4):252-5.
1991: Losekoot M; Fodde R; Gerritsen E J; van de Kuit I; Schreuder A; Giordano P C; Vossen J M; Bernini L F
Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant.
Blood 1991;77(4):861-7.
1991: Fodde R; Harteveld C L; Losekoot M; Giordano P C; Khan P M; Nayudu N V; Bernini L F
Multiple recombination events are responsible for the heterogeneity of alpha(+)-thalassemia haplotypes among the forest tribes of Andhra Pradesh, India.
Annals of human genetics 1991;55(Pt 1):43-50.
1990: Losekoot M; Fodde R; Harteveld C L; van Heeren H; Giordano P C; Bernini L F
Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia.
British journal of haematology 1990;76(2):269-74.
1990: Bernini L F; Natarajan A T; Schreuder-Rotteveel A H; Giordano P C; Ploem J S; Tates A
Assay for somatic mutation of human hemoglobins.
Progress in clinical and biological research 1990;340C():57-67.
1990: Losekoot M; Fodde R; van Heeren H; Harteveld C L; Giordano P C; Bernini L F
A novel frameshift mutation [FSC 47 (+A)] causing beta-thalassemia in a Surinam patient.
Hemoglobin 1990;14(4):467-70.
1990: Giordano P C; Fodde R; Amons R; Ploem J E; Bernini L F
Hb J-Anatolia [alpha 61(E10)Lys----Thr]: structural characterization and gene localization of a new alpha chain variant.
Hemoglobin 1990;14(2):119-28.
1989: Losekoot M; Fodde R; Giordano P C; Bernini L F
A novel delta zero-thalassemia arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA.
Human genetics 1989;83(1):75-8.
1989: Losekoot M; Beijer C; Giordano P C; van Gemeren A D; Oei Y B; Bernini L F
[Combined alpha and beta thalassemia in a Chinese family in The Netherlands]
Nederlands tijdschrift voor geneeskunde 1989;133(24):1218-23.
1988: Bernini L F; Giordano P C
Hemoglobin Tilburg: alpha 2-beta 2 73 (E 17) Asp----Gly. A new hemoglobin with reduced oxygen affinity.
Biochimica et biophysica acta 1988;957(2):281-5.
1988: Fodde R; Losekoot M; van den Broek M H; Oldenburg M; Rashida N; Schreuder A; Wijnen J T; Giordano P C; Nayudu N V; Khan P M
Prevalence and molecular heterogeneity of alfa+ thalassemia in two tribal populations from Andhra Pradesh, India.
Human genetics 1988;80(2):157-60.

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