These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review. Ukonmaanaho EM; Dell'Anna S; Hakonen A; Wartiovaara-Kautto U; Kakko S; Rab MAE; van Oirschot B; Kraatari-Tiri M; van Wijk R; Rahikkala E Br J Haematol; 2024 May; 204(5):2040-2048. PubMed ID: 38415930 [TBL] [Abstract][Full Text] [Related]
5. A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms. Jamwal M; Aggarwal A; Palodi A; Sharma P; Bansal D; Maitra A; Das R Br J Haematol; 2019 Sep; 186(5):e142-e145. PubMed ID: 31119733 [No Abstract] [Full Text] [Related]
6. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Wang F; Wang Y; Zhang B; Zhao L; Lyubasyuk V; Wang K; Xu M; Li Y; Wu F; Wen C; Bernstein PS; Lin D; Zhu S; Wang H; Zhang K; Chen R Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7159-64. PubMed ID: 25316723 [TBL] [Abstract][Full Text] [Related]
7. HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. van Wijk R; Rijksen G; Huizinga EG; Nieuwenhuis HK; van Solinge WW Blood; 2003 Jan; 101(1):345-7. PubMed ID: 12393545 [TBL] [Abstract][Full Text] [Related]
8. Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population. Dongerdiye R; Bokde M; More TA; Saptarshi A; Devendra R; Chiddarwar A; Warang P; Kedar P Ann Hematol; 2023 May; 102(5):1029-1036. PubMed ID: 36892591 [TBL] [Abstract][Full Text] [Related]
9. IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations. Yang L; Xu DD; Sun CJ; Wu J; Wei HY; Liu Y; Zhang MY; Luo FH J Clin Endocrinol Metab; 2018 Nov; 103(11):3939-3944. PubMed ID: 30053089 [TBL] [Abstract][Full Text] [Related]
10. Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia. Alnouri F; Athar M; Al-Allaf FA; Abduljaleel Z; Taher MM; Bouazzaoui A; Al Ammari D; Karrar H; Albabtain M Atherosclerosis; 2018 Oct; 277():425-433. PubMed ID: 30270081 [TBL] [Abstract][Full Text] [Related]
11. Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71. Bazgir A; Agha Gholizadeh M; Kahani SM; Tavasoli AR; Garshasbi M Neurogenetics; 2024 Jul; 25(3):225-232. PubMed ID: 38622440 [TBL] [Abstract][Full Text] [Related]
12. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Okur V; Cho MT; van Wijk R; van Oirschot B; Picker J; Coury SA; Grange D; Manwaring L; Krantz I; Muraresku CC; Hulick PJ; May H; Pierce E; Place E; Bujakowska K; Telegrafi A; Douglas G; Monaghan KG; Begtrup A; Wilson A; Retterer K; Anyane-Yeboa K; Chung WK Eur J Hum Genet; 2019 Jul; 27(7):1081-1089. PubMed ID: 30778173 [TBL] [Abstract][Full Text] [Related]
13. Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family. Dongerdiye R; Sampagar A; Devendra R; Warang P; Kedar P BMC Med Genomics; 2021 Jul; 14(1):191. PubMed ID: 34321014 [TBL] [Abstract][Full Text] [Related]
14. Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1. Koralkova P; Mojzikova R; van Oirschot B; Macartney C; Timr P; Vives Corrons JL; Striezencova Laluhova Z; Lejhancova K; Divoky V; van Wijk R Blood Cells Mol Dis; 2016 Jul; 59():71-6. PubMed ID: 27282571 [TBL] [Abstract][Full Text] [Related]
15. Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. More TA; Dongerdiye R; Devendra R; Warang PP; Kedar PS Ann Hematol; 2020 Apr; 99(4):715-727. PubMed ID: 32112123 [TBL] [Abstract][Full Text] [Related]
16. Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction. Kedar PS; Dongerdiye R; Chilwirwar P; Gupta V; Chiddarwar A; Devendra R; Warang P; Prasada H; Sampagar A; Bhat S; Chandrakala S; Madkaikar M Indian J Pediatr; 2019 Aug; 86(8):692-699. PubMed ID: 31030358 [TBL] [Abstract][Full Text] [Related]
18. HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family. Sasaki E; Phelan E; O'Regan M; Kassim AH; Miletin J; McMahon C; O'Sullivan MJ; Baptista J; Lynch SA Clin Genet; 2022 Jan; 101(1):142-143. PubMed ID: 34532855 [TBL] [Abstract][Full Text] [Related]
19. Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA). He S; Chen H; Guo X; Gao J BMC Med Genomics; 2022 May; 15(1):102. PubMed ID: 35509045 [TBL] [Abstract][Full Text] [Related]
20. Targeted next-generation sequencing revealed a novel homozygous mutation in the Kedar P; Dongerdiye R; Chandrakala S; Bargir UA; Madkaikar M Hematology; 2022 Dec; 27(1):441-448. PubMed ID: 35413226 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]