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Single-exon fetal RHD genotyping: a 31-month follow up in the obstetric population of Western Sweden

Blood transfusion = Trasfusione del sangue, 2024-09, Vol.22 (5), p.387-394

2024

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Novel RHD variant causing RhD negative phenotype identified in a pregnant woman

Transfusion (Philadelphia, Pa.), 2022-08, Vol.62 (8), p.E37-E39

2022

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External quality assessment of noninvasive fetal RHD genotyping

Vox sanguinis, 2020-07, Vol.115 (5), p.466-471

2020

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The P1 histo‐blood group antigen is present on human red blood cell glycoproteins

Transfusion (Philadelphia, Pa.), 2019-03, Vol.59 (3), p.1108-1117

2019

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Truncated glycosyltransferase coding regions in novel ABO alleles give rise to weak A or B blood group expression and discrepant typing results

Transfusion (Philadelphia, Pa.), 2023-10, Vol.63 (10), p.1951-1961

2023

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A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with B w phenotype

Transfusion (Philadelphia, Pa.), 2022-10, Vol.62 (10), p.E55

2022

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A novel single‐nucleotide substitution in the proximal ABO promoter gives rise to the B3 phenotype

Transfusion (Philadelphia, Pa.), 2019-10, Vol.59 (10), p.E1-E3

2019

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A Bioinformatically Initiated Approach to Evaluate GATA1 Regulatory Regions in Samples with Weak D, Del, or D– Phenotypes Despite Normal RHD Exons

Transfusion medicine and hemotherapy, 2024-08, Vol.51 (4), p.252-264

2024

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A novel nonsense variant in RHAG underlies a Nordic Rhnull phenotype

Vox sanguinis, 2023-08, Vol.118 (8), p.690-694

2023

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A novel RHCE02 allele, containing the single-nucleotide change c.460A>G, encodes weakened expression of C and e antigens

Transfusion (Philadelphia, Pa.), 2016-09, Vol.56 (9), p.2391-2392

2016

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Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes

The Journal of biological chemistry, 2015-07, Vol.290 (30), p.18505-18518

2015

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A novel ABO allele with a 21‐bp duplication identified in two unrelated European individuals with weak A expression

Transfusion medicine (Oxford, England), 2020-12, Vol.30 (6), p.508-512

2020

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P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems

Transfusion (Philadelphia, Pa.), 2013-11, Vol.53 (11pt2), p.2928-2939

2013

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Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping

The Journal of molecular diagnostics : JMD, 2019-05, Vol.21 (3), p.525-537

2019

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Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles

Transfusion (Philadelphia, Pa.), 2014-07, Vol.54 (7), p.1831-1835

2014

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Weak A phenotypes associated with novel ABO alleles carrying the A2-related 1061C deletion and various missense substitutions

Transfusion (Philadelphia, Pa.), 2010-07, Vol.50 (7), p.1471-1486

2010

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Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System

International journal of molecular sciences, 2022-04, Vol.23 (7), p.3936

2022

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An extensive polymerase chain reaction-allele-specific polymorphism strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup, and hybrid alleles

Transfusion (Philadelphia, Pa.), 2007-11, Vol.47 (11), p.2110-2125

2007

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Noninvasive Prenatal Testing in Immunohematology-Clinical, Technical and Ethical Considerations

Journal of clinical medicine, 2022-05, Vol.11 (10), p.2877

2022

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A multi‐centre study on the performance of the molecular genotyping platform ID RHD XT for resolving serological weak RhD phenotype in routine clinical practice

Vox sanguinis, 2020-04, Vol.115 (3), p.241-248

2020

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Missense mutations in the C-terminal portion of the B4GALNT2 -encoded glycosyltransferase underlying the Sd(a-) phenotype

Biochemistry and biophysics reports, 2019-09, Vol.19, p.100659-100659, Article 100659

2019

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Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene

The Journal of biological chemistry, 2002-08, Vol.277 (33), p.29455-29459

2002

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Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype

Transfusion (Philadelphia, Pa.), 2008-03, Vol.48 (3), p.479-487

2008

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Single-exon fetal RHD genotyping: a 31-month follow up in the obstetric population of Western Sweden

Novel RHD variant causing RhD negative phenotype identified in a pregnant woman

External quality assessment of noninvasive fetal RHD genotyping

The P1 histo‐blood group antigen is present on human red blood cell glycoproteins

Truncated glycosyltransferase coding regions in novel ABO alleles give rise to weak A or B blood group expression and discrepant typing results

A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with B w phenotype

A novel single‐nucleotide substitution in the proximal ABO promoter gives rise to the B3 phenotype

International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology Report of Basel and three virtual business meetings: Update on blood group systems

A Bioinformatically Initiated Approach to Evaluate GATA1 Regulatory Regions in Samples with Weak D, Del, or D– Phenotypes Despite Normal RHD Exons

A novel nonsense variant in RHAG underlies a Nordic Rhnull phenotype

A novel RHCE02 allele, containing the single-nucleotide change c.460A>G, encodes weakened expression of C and e antigens

Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes

Recommendation for validation and quality assurance of non‐invasive prenatal testing for foetal blood groups and implications for IVD risk classification according to EU regulations

A novel ABO allele with a 21‐bp duplication identified in two unrelated European individuals with weak A expression

P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems

Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping

Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles

Weak A phenotypes associated with novel ABO alleles carrying the A2-related 1061C deletion and various missense substitutions

Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System

An extensive polymerase chain reaction-allele-specific polymorphism strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup, and hybrid alleles

Noninvasive Prenatal Testing in Immunohematology-Clinical, Technical and Ethical Considerations

A multi‐centre study on the performance of the molecular genotyping platform ID RHD XT for resolving serological weak RhD phenotype in routine clinical practice

Missense mutations in the C-terminal portion of the B4GALNT2 -encoded glycosyltransferase underlying the Sd(a-) phenotype

Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene

Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype

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