References

  1. Ceppellini R et al. AN INTERACTION BETWEEN ALLELES AT THE RH LOCUS IN MAN WHICH WEAKENS THE REACTIVITY OF THE RH(0) FACTOR (D). Proc Natl Acad Sci U S A, 1955. [Citation] [RHeference]
  2. Salmon C et al. [The gene complex DIV (C)-]. Rev Fr Transfus, 1969. [Citation] [RHeference]
  3. Colin Y et al. Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood, 1991. [Citation] [RHeference]
  4. Le van Kim C et al. Molecular cloning and primary structure of the human blood group RhD polypeptide. Proc Natl Acad Sci U S A, 1992. [Citation] [RHeference]
  5. Arce MA et al. Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals. Blood, 1993. [Citation] [RHeference]
  6. Chérif-Zahar B et al. Molecular analysis of the structure and expression of the RH locus in individuals with D--, Dc-, and DCw- gene complexes. Blood, 1994. [Citation] [RHeference]
  7. Mouro I et al. Rearrangements of the blood group RhD gene associated with the DVI category phenotype. Blood, 1994. [Citation] [RHeference]
  8. Rouillac C et al. Transcript analysis of D category phenotypes predicts hybrid Rh D-CE-D proteins associated with alteration of D epitopes. Blood, 1995. [Citation] [RHeference]
  9. Rouillac C et al. Lack of G blood group antigen in DIIIb erythrocytes is associated with segmental DNA exchange between RH genes. Br J Haematol, 1995. [Citation] [RHeference]
  10. Rouillac C et al. Leu110Pro substitution in the RhD polypeptide is responsible for the DVII category blood group phenotype. Am J Hematol, 1995. [Citation] [RHeference]
  11. Beckers EA et al. The RoHar antigenic complex is associated with a limited number of D epitopes and alloanti-D production: a study of three unrelated persons and their families. Transfusion, 1996. [Citation] [RHeference]
  12. Liu et al. Molecular analysis of two D-variants, DHMi and DHMii. Transfusion Medicine, 1996. — Abstract — [RHeference]
  13. Cartron JP et al. Tentative model for the mapping of D epitopes on the RhD polypeptide. Transfus Clin Biol, 1996. [Citation] [RHeference]
  14. Noizat-Pirenne F et al. Molecular analysis of selected Rh variants. Transfus Clin Biol, 1996. [Citation] [RHeference]
  15. Beckers EA et al. Characterization of the hybrid RHD gene leading to the partial D category IIIc phenotype. Transfusion, 1996. [Citation] [RHeference]
  16. Scott ML et al. A structural model for 30 Rh D epitopes based on serological and DNA sequence data from partial D phenotypes. Transfus Clin Biol, 1996. [Citation] [RHeference]
  17. Avent ND et al. Molecular biology of partial D phenotypes. Transfus Clin Biol, 1996. [Citation] [RHeference]
  18. Rouillac C et al. Molecular basis of the altered antigenic expression of RhD in weak D(Du) and RhC/e in RN phenotypes. Blood, 1996. [Citation] [RHeference]
  19. Faas BH et al. Molecular background of VS and weak C expression in blacks. Transfusion, 1997. [Citation] [RHeference]
  20. Jones JW et al. The serological profile and molecular basis of a new partial D phenotype, DHR. Vox Sang, 1997. [Citation] [RHeference]
  21. Avent ND et al. Molecular basis of the D variant phenotypes DNU and DII allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein. Br J Haematol, 1997. [Citation] [RHeference]
  22. Maaskant-van Wijk PA et al. Evidence That the RHDVI Deletion Genotype Does Not Exist Blood, 1997. [Citation] [RHeference]
  23. Avent ND et al. Molecular analysis of Rh transcripts and polypeptides from individuals expressing the DVI variant phenotype: an RHD gene deletion event does not generate All DVIccEe phenotypes. Blood, 1997. [Citation] [RHeference]
  24. Avent ND et al. Evidence of genetic diversity underlying Rh D-, weak D (Du), and partial D phenotypes as determined by multiplex polymerase chain reaction analysis of the RHD gene. Blood, 1997. [Citation] [RHeference]
  25. Reid ME et al. Two examples of an inseparable antibody that reacts equally well with DW+ and Rh32+ red blood cells. Vox Sang, 1998. [Citation] [RHeference]
  26. Liu W et al. Site-directed mutagenesis of the human D antigen: definition of D epitopes on the sixth external domain of the D protein expressed on K562 cells. Transfusion, 1999. [Citation] [RHeference]
  27. Hemker MB et al. DAR, a new RhD variant involving exons 4, 5, and 7, often in linkage with ceAR, a new Rhce variant frequently found in African blacks. Blood, 1999. [Citation] [RHeference]
  28. Xu Q et al. [Study on polymorphism of D gene exons among RhD-negative Chinese Han population]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2001. [Citation] [RHeference]
  29. Faas BH et al. Partial expression of RHc on the RHD polypeptide. Transfusion, 2001. [Citation] [RHeference]
  30. Ekman GC et al. Rh genotyping: avoiding false-negative and false-positive results among individuals of African ancestry. Am J Hematol, 2002. [Citation] [RHeference]
  31. Peng CT et al. Molecular basis for the RhD negative phenotype in Chinese. Int J Mol Med, 2003. [Citation] [RHeference]
  32. Lin IL et al. Molecular basis of weak D in Taiwanese. Ann Hematol, 2003. [Citation] [RHeference]
  33. Chen JC et al. RHD 1227A is an important genetic marker for RhD(el) individuals. Am J Clin Pathol, 2004. [Citation] [RHeference]
  34. D. G. Bruce et al. Immune Alloanti-D in a Patient with a Novel RHD Mutation Transfusion Medicine, 2005. — Abstract — [RHeference]
  35. Gassner C et al. Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study. Transfusion, 2005. [Citation] [RHeference]
  36. Denomme GA et al. Partial D, weak D types, and novel RHD alleles among 33,864 multiethnic patients: implications for anti-D alloimmunization and prevention. Transfusion, 2005. [Citation] [RHeference]
  37. Grootkerk-Tax MG et al. RHD(T201R, F223V) cluster analysis in five different ethnic groups and serologic characterization of a new Ethiopian variant DARE, the DIII type 6, and the RHD(F223V). Transfusion, 2006. [Citation] [RHeference]
  38. Sun GD et al. [Molecular background of weak D type 15 as the predominant weak D type found in Chinese population]. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2006. [Citation] [RHeference]
  39. Li Q et al. [Study on the molecular background of Del phenotype in Chinese population]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2006. [Citation] [RHeference]
  40. Richard M et al. A new DEL variant caused by exon 8 deletion. Transfusion, 2007. [Citation] [RHeference]
  41. Le Maréchal C et al. Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis. Transfusion, 2007. [Citation] [RHeference]
  42. Vaglio S et al. Anti-D in a D-positive patient: autoantibody or alloantibody? Blood Transfus, 2007. [Citation] [RHeference]
  43. Noizat-Pirenne F et al. Weak D phenotypes and transfusion safety: where do we stand in daily practice? Transfusion, 2007. [Citation] [RHeference]
  44. Polin H et al. Effective molecular RHD typing strategy for blood donations. Transfusion, 2007. [Citation] [RHeference]
  45. Ye LY et al. Molecular and family analyses revealed two novel RHD alleles in a survey of a Chinese RhD-negative population. Vox Sang, 2007. [Citation] [RHeference]
  46. Li Q et al. Molecular basis of D variants between Uigur and Han blood donors in Xinjiang. Transfus Med, 2008. [Citation] [RHeference]
  47. Polin H et al. Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria. Transfusion, 2009. [Citation] [RHeference]
  48. Flegel WA et al. D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters. Transfusion, 2009. [Citation] [RHeference]
  49. Li Q et al. Molecular basis of the RHD gene in blood donors with DEL phenotypes in Shanghai. Vox Sang, 2009. [Citation] [RHeference]
  50. Ye L et al. Molecular bases of unexpressed RHD alleles in Chinese D- persons. Transfusion, 2009. [Citation] [RHeference]
  51. Liu HC et al. Aberrant RNA splicing in RHD 7-9 exons of DEL individuals in Taiwan: a mechanism study. Biochim Biophys Acta, 2010. [Citation] [RHeference]
  52. Shao CP et al. Antenatal Rh prophylaxis is unnecessary for "Asia type" DEL women. Transfus Clin Biol, 2010. [Citation] [RHeference]
  53. Xu H et al. [Molecular study of two novel RHD alleles and pedigree analysis]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2011. [Citation] [RHeference]
  54. C Lomas-Francis et al. Surprising findings with RBCs expressing the low prevalence RH antigen Evans Transfusion, 2011. — Abstract — [RHeference]
  55. Dogic V et al. Distribution of weak D types in the Croatian population. Transfus Med, 2011. [Citation] [RHeference]
  56. Stabentheiner S et al. Overcoming methodical limits of standard RHD genotyping by next-generation sequencing. Vox Sang, 2011. [Citation] [RHeference]
  57. Gardener GJ et al. Anti-D in pregnant women with the RHD(IVS3+1G>A)-associated DEL phenotype. Transfusion, 2012. [Citation] [RHeference]
  58. C Fong et al. An RHD*455C Allele Encodes a Partial D Phenotype Associated With Production of Allo Anti-D Transfusion, 2012. — Abstract — [RHeference]
  59. Villa MA et al. A novel mutation of the RHD antigen Vox Sanguinis, 2012. — Abstract — [RHeference]
  60. Reid ME et al. Molecular background of RH in Bastiaan, the RH:-31,-34 index case, and two novel RHD alleles. Immunohematology, 2012. [Citation] [RHeference]
  61. Ye L et al. Partial D phenotypes and genotypes in the Chinese population. Transfusion, 2012. [Citation] [RHeference]
  62. Rizzo C et al. Weak D and partial D: our experience in daily activity. Blood Transfus, 2012. [Citation] [RHeference]
  63. Sandler SG et al. New laboratory procedures and Rh blood type changes in a pregnant woman. Obstet Gynecol, 2012. [Citation] [RHeference]
  64. Lomas-Francis C et al. DIII Type 7 is likely the original serologically defined DIIIb. Transfusion, 2012. [Citation] [RHeference]
  65. Polin H et al. On the trail of anti-CDE to unexpected highlights of the RHD*weak 4.3 allele in the Upper Austrian population. Vox Sang, 2012. [Citation] [RHeference]
  66. Chen Q et al. Molecular basis of weak D and DEL in Han population in Anhui Province, China. Chin Med J (Engl), 2012. [Citation] [RHeference]
  67. Orzińska A et al. RHD variants in Polish blood donors routinely typed as D-. Transfusion, 2013. [Citation] [RHeference]
  68. Westhoff CM et al. RHCE*ceTI encodes partial c and partial e and is often in cis to RHD*DIVa. Transfusion, 2013. [Citation] [RHeference]
  69. O'Suoji C et al. Alloimmunization in sickle cell anemia in the era of extended red cell typing. Pediatr Blood Cancer, 2013. [Citation] [RHeference]
  70. Gu J et al. Analysis of density and epitopes of D antigen on the surface of erythrocytes from DEL phenotypic individuals carrying the RHD1227A allele. Blood Transfus, 2014. [Citation] [RHeference]
  71. Scott SA et al. The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes. Transfusion, 2014. [Citation] [RHeference]
  72. Lin F et al. [Molecular genetic analysis of a weak D phenotype]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2014. [Citation] [RHeference]
  73. Wang QP et al. An investigation of secondary anti-D immunisation among phenotypically RhD-negative individuals in the Chinese population. Blood Transfus, 2014. [Citation] [RHeference]
  74. Quaglietta A et al. Case-report of a newly described RHD allele Vox Sanguinis, 2015. — Abstract — [RHeference]
  75. Yang HS et al. Primary anti-D alloimmunization induced by "Asian type" RHD (c.1227G>A) DEL red cell transfusion. Ann Lab Med, 2015. [Citation] [RHeference]
  76. Sippert E et al. Variant RH alleles and Rh immunisation in patients with sickle cell disease. Blood Transfus, 2015. [Citation] [RHeference]
  77. Zhang X et al. [Molecular mechanism of 101A>G and 845G>A mutations of RHD gene responsible for a weak RhD]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2015. [Citation] [RHeference]
  78. Seo MH et al. An effective diagnostic strategy for accurate detection of RhD variants including Asian DEL type in apparently RhD-negative blood donors in Korea. Vox Sang, 2016. [Citation] [RHeference]
  79. Vege S et al. D typing discrepancies and anti-D production associated with six new RHD alleles. Transfusion, 2016. — Abstract — [RHeference]
  80. Goldman M et al. Identification of six new RHCE variant alleles in individuals of diverse racial origin. Transfusion, 2016. [Citation] [RHeference]
  81. Lopez GH et al. A D+ blood donor with a novel RHD*D-CE(5-6)-D gene variant exhibits the low-frequency antigen RH23 (D(W) ) characteristic of the partial DVa phenotype. Transfusion, 2016. [Citation] [RHeference]
  82. Clarke G et al. Resolving variable maternal D typing using serology and genotyping in selected prenatal patients. Transfusion, 2016. [Citation] [RHeference]
  83. C Henny et al. Impact of the mandatory donor RHD screening in Switzerland Vox Sanguinis, 2016. — Abstract — [RHeference]
  84. Stegmann TC et al. Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women. Br J Haematol, 2016. [Citation] [RHeference]
  85. Srivastava K et al. The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens. Transfusion, 2016. [Citation] [RHeference]
  86. Polin H et al. RHD Tyr311Stop encoded by a novel nonsense mutation. Transfusion, 2016. [Citation] [RHeference]
  87. S Vege et al. Expansion of the RHD DAU Cluster: Identification of Two Additional Novel Alleles Transfusion, 2017. — Abstract — [RHeference]
  88. S Vege et al. RHD Genotyping of Discrepant or Weak D Samples: Over a Year’s Experience. Transfusion, 2017. — Abstract — [RHeference]
  89. J Aeschlimann et al. Gene Conversion within the r’S Haplotype Complicates RHD Genotype Interpretations Transfusion, 2017. — Abstract — [RHeference]
  90. Floch A et al. Molecular characterization of 13 new RHD alleles. Transfusion, 2017. [Citation] [RHeference]
  91. Jérôme Babinet et al. Inscription des individus RH : −1, −4 ou RH : −1, −5 dans le registre national de référence des sujets présentant un phénotype/génotype érythrocytaire rare : intérêt de la réalisation d’une PCR multiplexe systématique pour le dépistage des variants RH1 affaiblis non détectés par sérologie de routine Transfusion Clinique et Biologique, 2017. — Abstract — [RHeference]
  92. Quantock KM et al. Anti-D in a mother, hemizygous for the variant RHD*DNB gene, associated with hemolytic disease of the fetus and newborn. Transfusion, 2017. [Citation] [RHeference]
  93. A Matteocci et al. Identification of weak D type 100 in two unrelated italian donors Vox Sanguinis, 2017. — Abstract — [RHeference]
  94. Ji YL et al. RHD genotype and zygosity analysis in the Chinese Southern Han D+, D- and D variant donors using the multiplex ligation-dependent probe amplification assay. Vox Sang, 2017. [Citation] [RHeference]
  95. Dezan MR et al. RHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients. Blood Cells Mol Dis, 2017. [Citation] [RHeference]
  96. McGowan EC et al. Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management. Vox Sang, 2017. [Citation] [RHeference]
  97. Lopez GH et al. Genotyping by sequencing defines independent novel RHD variants for an antenatal patient and a blood donor. Transfusion, 2017. [Citation] [RHeference]
  98. Luo H et al. [Phenotype Types and Genetic Mutation Mechanism of Rhesus D Variant Individuals]. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2017. [Citation] [RHeference]
  99. Saleheen D et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature, 2017. [Citation] [RHeference]
  100. Matteocci A et al. Two novel RHD alleles encoding truncated, nonfunctional D polypeptides. Transfusion, 2018. [Citation] [RHeference]
  101. Turley E et al. Severe hemolytic disease of the fetus and newborn due to allo-anti-D in a patient with a partial DEL phenotype arising from the variant allele described as RHD*148+1T (RHD*01EL.31). Transfusion, 2018. [Citation] [RHeference]
  102. Dezan MR et al. High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak-D phenotype. J Clin Lab Anal, 2018. [Citation] [RHeference]
  103. Lopez GH et al. A DEL phenotype attributed to RHD Exon 9 sequence deletion: slipped-strand mispairing and blood group polymorphisms. Transfusion, 2018. [Citation] [RHeference]
  104. Schoeman EM et al. Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting. Transfusion, 2018. [Citation] [RHeference]
  105. C Vrignaud et al. A Novel RHCE Allele Expressing RHD Epitopes Responsible for a False-Positive D Typing and Post-Transfusion Anti-D Alloimmunization in a Patient of Western European Descent Transfusion, 2018. — Abstract — [RHeference]
  106. J Aeschlimann et al. Serological and Molecular Characterization of Three New RHD Alleles Transfusion, 2018. — Abstract — [RHeference]
  107. Jérôme Babinet et al. Erratum à l’article : « Résumés des Posters » [Transfus. Clin. Biol. 24 (2017) 3S] Transfusion Clinique et Biologique, 2018. — Abstract — [RHeference]
  108. Aeschlimann J et al. Four novel silenced RHCE. Transfusion, 2018. [Citation] [RHeference]
  109. Liao Z et al. [A weak D type 59 case identified in the Chinese Han population]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2018. [Citation] [RHeference]
  110. Polin H et al. Identification of four novel RHD alleles by weakened antigen D expression. Transfusion, 2018. [Citation] [RHeference]
  111. Xu HY et al. [Identification of Phenotype and Genotype in One Case with Weak D blood group]. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2018. [Citation] [RHeference]
  112. Dezan MR et al. Evaluation of the applicability and effectiveness of a molecular strategy for identifying weak D and DEL phenotype among D- blood donors of mixed origin exhibiting high frequency of RHD*Ψ. Transfusion, 2018. [Citation] [RHeference]
  113. Qian C et al. A new RhD variant allele is caused by a RhD 26 T > G mutation in a Chinese Han woman with a weak D phenotype. Transfusion, 2019. [Citation] [RHeference]
  114. Zhang X et al. Molecular and computational analysis of 45 samples with a serologic weak D phenotype detected among 132,479 blood donors in northeast China. J Transl Med, 2019. [Citation] [RHeference]
  115. J Morrison et al. Severe case of haemolytic disease of fetus and newborn occurring in baby who has inherited a novel RHD allele associated with a “partial” RhD positive phenotype Vox Sanguinis, 2019. — Abstract — [RHeference]
  116. L Castilho et al. From genotyping to the functional and clinical interpretation of variations in blood group genes by 3D-protein structure investigation: two novel variant alleles in the RHD gene Vox Sanguinis, 2019. — Abstract — [RHeference]
  117. Koutsouri T et al. Frequency distribution of RHD alleles among Greek donors with weak D phenotypes demonstrates a distinct pattern in central European countries. Transfus Med, 2019. [Citation] [RHeference]
  118. Izaskun Apraiz et al. Performance Evaluation Study of ID RHD XT as a Molecular Tool for RHD Gene Screening in Pooled Blood Samples of Serologically D− C/E+ Donors Transfusion, 2019. — Abstract — [RHeference]
  119. Matzhold EM et al. RHD del28Phe (DMW) encoded by a novel in-frame deletion resulting in reduced D antigen expression. Transfusion, 2019. [Citation] [RHeference]
  120. Sunitha Vege et al. Novel RHD Alleles Identified When Resolving Serologic Weak D Phenotypes Transfusion, 2019. — Abstract — [RHeference]
  121. Schoeman EM et al. Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data. Transfusion, 2019. [Citation] [RHeference]
  122. Guzijan G et al. Implementation of Molecular RHD Typing at Two Blood Transfusion Institutes from Southeastern Europe. Transfus Med Hemother, 2019. [Citation] [RHeference]
  123. El Housse H et al. Comprehensive phenotypic and molecular investigation of RhD and RhCE variants in Moroccan blood donors. Blood Transfus, 2019. [Citation] [RHeference]
  124. Aline Floch et al. Understanding anti-D formation in RhD variants through the study of 3D intraprotein interactions manuscript in preparation, 2020. — Article — [RHeference]
  125. Sunitha Vege et al. Novel RHD Alleles and Predicting Risk for Anti-D Transfusion, 2020. — Abstract — [RHeference]
  126. Sunitha Vege et al. Novel RHCE*ceS with c.462G>T (p. Arg154Ser) Encodes Expression of a D Reactive Epitope Transfusion, 2020. — Abstract — [RHeference]
  127. Vege S et al. Impact of RHD genotyping on transfusion practice in Denmark and the United States and identification of novel RHD alleles. Transfusion, 2021. [Citation] [RHeference]
  128. Matteocci A et al. Two new RHD alleles with deletions spanning multiple exons. Transfusion, 2021. [Citation] [RHeference]