Publications:

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Case report: Hepatotoxicity and nephrotoxicity induced by methotrexate in a paediatric patient, what is the role of precision medicine in 2023?

Frontiers In Pharmacology

El Masri, Ali El Rida AER; Tobler, Caroline C; Willemijn, Breunis B; Von Bueren, Andre O AO; Ansari, Marc M; Samer, Caroline Flora CF

Publication Date: 2023

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 37201023

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• Main text

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MTHFR and MTRR Genetic Polymorphism of Methotrexate Therapy Outcomes in Early Rheumatoid Arthritis.

Pharmacogenomics And Personalized Medicine

Zhang, Qian Q; Fu, Pan P; Cao, Zhanglei Z; Huang, Hua H; Wen, Qinwen Q; Wang, Kaizhe K; Kong, Tong T; Wu, Xiudi X; Zheng, Jianping J

Publication Date: 2023

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 37159804

Variant Present in the following documents:

• pgpm-16-407.pdf

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A duplex tetra-primer ARMS-PCR assay to discriminate three species of the Schistosoma haematobium group: Schistosoma curassoni, S. bovis, S. haematobium and their hybrids.

Parasites & Vectors

Blin, Manon M; Dametto, Sarah S; Agniwo, Privat P; Webster, Bonnie L BL; Angora, Etienne E; Dabo, Abdoulaye A; Boissier, Jérôme J

Publication Date: 2023-04-07

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 37029440

Variant Present in the following documents:

• 13071_2023_Article_5754.pdf

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Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant - Case report and literature review.

Frontiers In Cardiovascular Medicine

Fãgãrãşan, Amalia A; Gozar, Liliana L; Ghiragosian, Simina-Elena Rusu SR; Murariu, Mircea M; Pop, Marian M; Crauciuc, Andrei A; Miclea, Diana D; Şuteu, Carmen Corina CC

Publication Date: 2022

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 36606277

Variant Present in the following documents:

• fcvm-09-1032519.pdf

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Successful heparin-perfusion therapy for complete thrombosis of the intra- and extrahepatic portal and mesenteric vein. A case report and literature review.

Radiology Case Reports

Misbahuddin-Leis, Mohammed M; Ademi, Burhan B; Ankolvi, Muzaffer M; Dubasz, Krisztina K; Mishra, Manisha M; Riechmann, Maren M; Graeb, Christian C; Radeleff, Boris B

Publication Date: 2023-03

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 36589499

Variant Present in the following documents:

• Main text
• main.pdf

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Venous Thrombosis Has a Constellation of Different Risk Factors: A Case Report and State-of-the-Art Review.

Cureus

Silva Cruz, Margarida M; Rodrigues Santos, Ligia L; Esteves Rodrigues, Tiago T; Manuel Pereira da Silva, Francisco F; Ferraz Moreira, Vera V

Publication Date: 2022-10

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 36447700

Variant Present in the following documents:

• Main text
• cureus-0014-00000030766.pdf

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Concomitant Administration of Capecitabine and Folate Supplements: Need to Encourage Medication Reconciliation.

Pharmaceuticals (Basel, Switzerland)

Stefanelli, Berenice B; Sellitto, Carmine C; De Bellis, Emanuela E; Torsiello, Martina M; Bertini, Nicola N; Pezzullo, Angelo Maria AM; Corbi, Graziamaria G; Sabbatino, Francesco F; Pepe, Stefano S; Tesse, Angela A; Conti, Valeria V; Filippelli, Amelia A

Publication Date: 2022-11-10

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 36355560

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-01388.pdf

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Genetic Aspects of Micronutrients Important for Inflammatory Bowel Disease.

Life (Basel, Switzerland)

Dragasevic, Sanja S; Stankovic, Biljana B; Kotur, Nikola N; Milutinovic, Aleksandra Sokic AS; Milovanovic, Tamara T; Stojkovic Lalosevic, Milica M; Stojanovic, Maja M; Pavlovic, Sonja S; Popovic, Dragan D

Publication Date: 2022-10-18

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 36295058

Variant Present in the following documents:

• Main text
• life-12-01623.pdf

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Methotrexate-Mediated Arachnoiditis in a Child with Acute Lymphoblastic Leukemia

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Karamercan, Sırma S; Kaya, Zühre Z; Uyar Göcün, Pınar P; Topuz Türkcan, Büşra B; Yazol, Merve M; Boyunağa, Öznur Ö; Koçak, Ülker Ü

Publication Date: 2022-12-01

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 36172826

Variant Present in the following documents:

• Main text
• TJH-39-266.pdf

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MTHFR SNPs (Methyl Tetrahydrofolate Reductase, Single Nucleotide Polymorphisms) C677T and A1298C Prevalence and Serum Homocysteine Levels in >2100 Hypofertile Caucasian Male Patients.

Biomolecules

Clément, Arthur A; Amar, Edouard E; Brami, Charles C; Clément, Patrice P; Alvarez, Silvia S; Jacquesson-Fournols, Laetitia L; Davy, Céline C; Lalau-Keraly, Marc M; Menezo, Yves Y

Publication Date: 2022-08-07

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 36008980

Variant Present in the following documents:

• Main text
• biomolecules-12-01086.pdf

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Female infertility and diet, is there a role for a personalized nutritional approach in assisted reproductive technologies? A Narrative Review.

Frontiers In Nutrition

Kohil, Amira A; Chouliaras, Spyridon S; Alabduljabbar, Shaikha S; Lakshmanan, Arun Prasath AP; Ahmed, Salma Hayder SH; Awwad, Johnny J; Terranegra, Annalisa A

Publication Date: 2022

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 35938101

Variant Present in the following documents:

• Main text
• fnut-09-927972.pdf

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T677T Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms Increased Prevalence in a Subgroup of Infertile Patients with Endometriosis.

Journal Of Women'S Health (2002)

Clément, Patrice P; Alvarez, Silvia S; Jacquesson-Fournols, Laetitia L; Cornet, Dominique D; Clément, Arthur A; Brack, Michel M; Lalau-Keraly, Marc M; Delafontaine, Didier D; Cohen, Marc M; Menezo, Yves Y

Publication Date: 2022-10

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 35788150

Variant Present in the following documents:

• jwh.2022.0019.pdf

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A Common Polymorphism in the MTHFD1 Gene Is a Modulator of Risk of Congenital Heart Disease.

Journal Of Cardiovascular Development And Disease

Karas Kuželički, Nataša N; Šmid, Alenka A; Vidmar Golja, Maša M; Kek, Tina T; Geršak, Borut B; Mazič, Uroš U; Mlinarič-Raščan, Irena I; Geršak, Ksenija K

Publication Date: 2022-05-24

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 35735795

Variant Present in the following documents:

• Main text
• jcdd-09-00166.pdf

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Association between Genetic Polymorphisms in Methylenetetrahydrofolate Reductase and Risk of Autoimmune Diseases: A Systematic Review and Meta-Analysis.

Disease Markers

Lu, Mao M; Peng, Ke K; Song, Li L; Luo, Li L; Liang, Peng P; Liang, Yundan Y

Publication Date: 2022

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 35686035

Variant Present in the following documents:

• DM2022-4568145.pdf

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The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.

International Journal Of Molecular Sciences

Jankovic, Milena M; Petrovic, Bojana B; Novakovic, Ivana I; Brankovic, Slavko S; Radosavljevic, Natasa N; Nikolic, Dejan D

Publication Date: 2022-01-29

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 35163523

Variant Present in the following documents:

• Main text
• ijms-23-01601.pdf

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The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.

International Journal Of Molecular Sciences

Jankovic, Milena M; Petrovic, Bojana B; Novakovic, Ivana I; Brankovic, Slavko S; Radosavljevic, Natasa N; Nikolic, Dejan D

Publication Date: 2022-01-29

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 35163523

Variant Present in the following documents:

• Main text
• ijms-23-01601.pdf

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Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.

Biomedicines

Sánchez-Monteagudo, Ana A; Ripollés, Edna E; Berenguer, Marina M; Espinós, Carmen C

Publication Date: 2021-08-28

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 34572285

Variant Present in the following documents:

• Main text
• biomedicines-09-01100.pdf

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Decreased Production of TNF-α and IL-6 Inflammatory Cytokines in Non-Pregnant Idiopathic RPL Women Immunomodulatory Effect of Sildenafil Citrate on the Cellular Response of Idiopathic RPL Women.

Journal Of Clinical Medicine

Kniotek, Monika M; Zych, Michał M; Roszczyk, Aleksander A; Szafarowska, Monika M; Jerzak, Małgorzata Maria MM

Publication Date: 2021-07-15

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 34300281

Variant Present in the following documents:

• jcm-10-03115.pdf

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Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

Frontiers In Neuroscience

Žigman, Tamara T; Petković Ramadža, Danijela D; Šimić, Goran G; Barić, Ivo I

Publication Date: 2021

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 34121999

Variant Present in the following documents:

• Main text
• fnins-15-673600.pdf

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Single-nucleotide polymorphisms of methylenetetrahydrofolate reductase gene in a South Indian cohort with nonsyndromic cleft lip with or without palate.

Journal Of Oral And Maxillofacial Pathology : Jomfp

Abdulla, Riaz R; Kudkuli, Jagadish J; Kapoor, Saketh S; Prabhu, Vishnudas V; Shetty, Pushparaja P; Aziz, Niloufa Z NZ

Publication Date: 2020

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 33967480

Variant Present in the following documents:

• Main text

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Effects of Methylene Tetrahydro Folate Reductase Gene Polymorphisms on Methotrexate Toxicity in Egyptian Pediatric Acute Lymphocytic Leukaemia Patients.

Iranian Journal Of Pharmaceutical Research : Ijpr

Mostafa-Hedeab, Gomaa G; Elborai, Yasser Y; Ebid, Gamal Thabet Ali GTA

Publication Date: 2020

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 33841551

Variant Present in the following documents:

• Main text

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Strategies to Improve the Clinical Outcomes for Direct-to-Consumer Pharmacogenomic Tests.

Genes

Tafazoli, Alireza A; Guggilla, Rama Krishna RK; Kamel-Koleti, Zahra Z; Miltyk, Wojciech W

Publication Date: 2021-03-03

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 33802585

Variant Present in the following documents:

• Main text

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Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report.

Chinese Medical Journal

Liao, Ying Y; Qi, Jian-Guang JG; Yan, Hui H; Zhang, Qing-You QY; Ji, Tao-Yun TY; Chang, Xing-Zhi XZ; Yang, Hai-Po HP; Jin, Hong-Fang HF; Du, Jun-Bao JB

Publication Date: 2021-03-25

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 33788782

Variant Present in the following documents:

• Main text
• cm9-134-1495.pdf

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Influence of Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphism on High-Dose Methotrexate-Related Toxicities in Pediatric Non-Hodgkin Lymphoma Patients.

Frontiers In Oncology

Lu, Suying S; Zhu, Xiaoqin X; Li, Wei W; Chen, Huimou H; Zhou, Dalei D; Zhen, Zijun Z; Sun, Feifei F; Huang, Junting J; Zhu, Jia J; Wang, Juan J; Zhang, Yizhuo Y; Sun, Xiaofei X

Publication Date: 2021

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 33718146

Variant Present in the following documents:

• Main text
• fonc-11-598226.pdf

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Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy.

World Journal Of Biological Chemistry

Palakuzhiyil, Shruti V SV; Christopher, Rita R; Chandra, Sadanandavalli Retnaswami SR

Publication Date: 2020-11-27

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 33274015

Variant Present in the following documents:

• Main text
• WJBC-11-99.pdf

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Variants c.677 C>T, c.1298 A>C in MTHFR, and c.66 A>G in MTRR Affect the Occurrence of Recurrent Pregnancy Loss in Chinese Women.

Genetic Testing And Molecular Biomarkers

Zhang, Yan Y; Zhan, Wenli W; Du, Qianyi Q; Wu, Li L; Ding, Hongke H; Liu, Fenghua F; Yin, Aihua A

Publication Date: 2020-11

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 33121283

Variant Present in the following documents:

• Main text
• gtmb.2020.0106.pdf

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In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

Journal Of Clinical Medicine

Hishinuma, Eiji E; Gutiérrez Rico, Evelyn E; Hiratsuka, Masahiro M

Publication Date: 2020-07-22

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 32707991

Variant Present in the following documents:

• Main text

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Pharmacogenomic Markers of Methotrexate Response in the Consolidation Phase of Pediatric Acute Lymphoblastic Leukemia Treatment.

Genes

Kotur, Nikola N; Lazic, Jelena J; Ristivojevic, Bojan B; Stankovic, Biljana B; Gasic, Vladimir V; Dokmanovic, Lidija L; Krstovski, Nada N; Milosevic, Goran G; Janic, Dragana D; Zukic, Branka B; Pavlovic, Sonja S

Publication Date: 2020-04-24

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 32344632

Variant Present in the following documents:

• Main text
• genes-11-00468.pdf

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Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community.

Neuropsychiatric Disease And Treatment

Arab, Arwa H AH; Elhawary, Nasser A NA

Publication Date: 2019

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 31920317

Variant Present in the following documents:

• Main text

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Molecular mechanisms of congenital heart disease in down syndrome.

Genes & Diseases

Zhang, Hui H; Liu, Lingjuan L; Tian, Jie J

Publication Date: 2019-12

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 31832516

Variant Present in the following documents:

• main.pdf

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Serum folate levels in bipolar disorder: a systematic review and meta-analysis.

Bmc Psychiatry

Hsieh, Yung-Chi YC; Chou, Li-Shiu LS; Lin, Ching-Hua CH; Wu, Hung-Chi HC; Li, Dian-Jeng DJ; Tseng, Ping-Tao PT

Publication Date: 2019-10-22

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 31640634

Variant Present in the following documents:

• 12888_2019_Article_2269.pdf

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MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics

Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J

Publication Date: 2019-07-01

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 31262291

Variant Present in the following documents:

• 12920_2019_546_MOESM3_ESM.xlsx, sheet 1

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Nutrition and Female Fertility: An Interdependent Correlation.

Frontiers In Endocrinology

Silvestris, Erica E; Lovero, Domenica D; Palmirotta, Raffaele R

Publication Date: 2019

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 31231310

Variant Present in the following documents:

• Main text
• fendo-10-00346.pdf

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Association between MTHFR 677C>T Polymorphism and Vitamin B12 Deficiency: A Case-control Study.

Journal Of Medical Biochemistry

Al-Batayneh, Khalid M KM; Zoubi, Mazhar Salim Al MSA; Shehab, Murad M; Al-Trad, Bahaa B; Bodoor, Khaldon K; Khateeb, Wesam Al WA; Aljabali, Alaa A A AAA; Hamad, Mohammad Al MA; Eaton, Greg G

Publication Date: 2018-04

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 30581350

Variant Present in the following documents:

• Main text

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Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism: A case report.

Medicine

Saviola, Gianantonio G; Abdi-Ali, Lul L; Sacco, Silvano S; Comini, Laura L; Plewnia, Katrin K; Rossi, Maja M; Orrico, Alfredo A

Publication Date: 2018-12

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 30544400

Variant Present in the following documents:

• Main text
• medi-97-e13350.pdf

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Impact of pregnancy on inborn errors of metabolism.

Reviews In Endocrine & Metabolic Disorders

Wilcox, Gisela G

Publication Date: 2018-03

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 30198059

Variant Present in the following documents:

• 11154_2018_Article_9455.pdf

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Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

International Journal Of Molecular Sciences

Colombo, Elisa A EA; Locatelli, Andrea A; Cubells Sánchez, Laura L; Romeo, Sara S; Elcioglu, Nursel H NH; Maystadt, Isabelle I; Esteve Martínez, Altea A; Sironi, Alessandra A; Fontana, Laura L; Finelli, Palma P; Gervasini, Cristina C; Pecile, Vanna V; Larizza, Lidia L

Publication Date: 2018-04-06

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 29642415

Variant Present in the following documents:

• Main text
• ijms-19-01103.pdf

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Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California.

Journal Of Genetic Counseling

Shen, Joseph J JJ; Carmichael, Jason J; Vásquez Santos, Leoncio L

Publication Date: 2018-08

Variant appearance in text: MTHFR: 1298A>C

PubMed Link: 29397479

Variant Present in the following documents:

• 10897_2018_Article_221.pdf

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