Publications:

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Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene

Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M

Publication Date: 2022-06

Variant appearance in text: rs104893670

PubMed Link: 36479490

Variant Present in the following documents:

• Main text
• jpmh-2022-02-e102.pdf

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Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis

Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M

Publication Date: 2020-11-09

Variant appearance in text: rs104893670

PubMed Link: 33170161

Variant Present in the following documents:

• Main text
• ACTA-91-11.pdf

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Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Pharmaceuticals (Basel, Switzerland)

Vlasveld, L Tom LT; Janssen, Roel R; Bardou-Jacquet, Edouard E; Venselaar, Hanka H; Hamdi-Roze, Houda H; Drakesmith, Hal H; Swinkels, Dorine W DW

Publication Date: 2019-09-09

Variant appearance in text: FPN1: Gln182His

PubMed Link: 31505869

Variant Present in the following documents:

• Main text
• pharmaceuticals-12-00132.pdf

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Ferroportin disease: pathogenesis, diagnosis and treatment.

Haematologica

Pietrangelo, Antonello A

Publication Date: 2017-12

Variant appearance in text: SLC40A1: 546G>T

PubMed Link: 29101207

Variant Present in the following documents:

• 1021972.pdf

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Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.

Medicine

Zhang, Wei W; Lv, Tingxia T; Huang, Jian J; Ou, Xiaojuan X

Publication Date: 2017-09

Variant appearance in text: SLC40A1: Q182H

PubMed Link: 28930842

Variant Present in the following documents:

• Main text
• medi-96-e8064.pdf

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Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Scientific Reports

Li, Chenguang C; Gao, Zhibo Z; Li, Fei F; Li, Xiangchun X; Sun, Yihua Y; Wang, Mengyun M; Li, Dan D; Wang, Rui R; Li, Fuming F; Fang, Rong R; Pan, Yunjian Y; Luo, Xiaoyang X; He, Jing J; Zheng, Liangtao L; Xia, Jufeng J; Qiu, Lixin L; He, Jun J; Ye, Ting T; Zhang, Ruoxin R; He, Minghui M; Zhu, Meiling M; Hu, Haichuan H; Shi, Tingyan T; Zhou, Xiaoyan X; Sun, Menghong M; Tian, Shilin S; Zhou, Yong Y; Wang, Qiaoxiu Q; Chen, Longyun L; Yin, Guangliang G; Lu, Jingya J; Wu, Renhua R; Guo, Guangwu G; Li, Yingrui Y; Hu, Xueda X; Li, Lin L; Asan, ; Wang, Qin Q; Yin, Ye Y; Feng, Qiang Q; Wang, Bin B; Wang, Hang H; Wang, Mingbang M; Yang, Xiaonan X; Zhang, Xiuqing X; Yang, Huanming H; Jin, Li L; Wang, Cun-Yu CY; Ji, Hongbin H; Chen, Haiquan H; Wang, Jun J; Wei, Qingyi Q

Publication Date: 2015-10-27

Variant appearance in text: SLC40A1: Q182H; rs104893670

PubMed Link: 26503331

Variant Present in the following documents:

• srep14237-s2.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: N/A

PubMed Link: 26206375

Variant Present in the following documents:

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Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.

Przeglad Gastroenterologiczny

Raszeja-Wyszomirska, Joanna J; Caleffi, Angela A; Milkiewicz, Piotr P; Pietrangelo, Antonello A

Publication Date: 2014

Variant appearance in text: SLC40A1: Q182H

PubMed Link: 25396007

Variant Present in the following documents:

• Main text
• PG-9-23748.pdf

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Non-HFE hemochromatosis.

Revista Brasileira De Hematologia E Hemoterapia

Santos, Paulo Caleb Júnior de Lima PC; Dinardo, Carla Luana CL; Cançado, Rodolfo Delfini RD; Schettert, Isolmar Tadeu IT; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC

Publication Date: 2012

Variant appearance in text: SLC40A1: Gln182His

PubMed Link: 23049448

Variant Present in the following documents:

• Main text
• rbhh-34-311.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: SLC40A1: Gln182His

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: SLC40A1: Gln182His

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Journal Of Hepatology

Mayr, Roman R; Janecke, Andreas R AR; Schranz, Melanie M; Griffiths, William J H WJ; Vogel, Wolfgang W; Pietrangelo, Antonello A; Zoller, Heinz H

Publication Date: 2010-11

Variant appearance in text: SLC40A1: Q182H

PubMed Link: 20691492

Variant Present in the following documents:

• Main text

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Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.

Journal Of Molecular Biology

Rice, Adrian E AE; Mendez, Michael J MJ; Hokanson, Craig A CA; Rees, Douglas C DC; Björkman, Pamela J PJ

Publication Date: 2009-02-27

Variant appearance in text: IREG1: Q182H

PubMed Link: 19150361

Variant Present in the following documents:

• Main text

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Iron imports. III. Transfer of iron from the mucosa into circulation.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Wessling-Resnick, Marianne M

Publication Date: 2006-01

Variant appearance in text: SLC11A3: Q182H

PubMed Link: 16354771

Variant Present in the following documents:

• Main text

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The molecular basis of ferroportin-linked hemochromatosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

De Domenico, Ivana I; Ward, Diane McVey DM; Nemeth, Elizabeta E; Vaughn, Michael B MB; Musci, Giovanni G; Ganz, Tomas T; Kaplan, Jerry J

Publication Date: 2005-06-21

Variant appearance in text: SLC40A1: Q182H

PubMed Link: 15956209

Variant Present in the following documents:

• Main text

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