Publications:

---

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Genes

Hernández, Gonzalo G; Ferrer-Cortès, Xenia X; Venturi, Veronica V; Musri, Melina M; Pilquil, Martin Floor MF; Torres, Pau Marc Muñoz PMM; Rodríguez, Ines Hernandez IH; Mínguez, Maria Àngels Ruiz MÀR; Kelleher, Nicholas J NJ; Pelucchi, Sara S; Piperno, Alberto A; Alberca, Esther Plensa EP; Ricós, Georgina Gener GG; Giró, Eloi Cañamero EC; Pérez-Montero, Santiago S; Tornador, Cristian C; Villà-Freixa, Jordi J; Sánchez, Mayka M

Publication Date: 2021-12-13

Variant appearance in text: TFR2: Gly792Arg

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

View BVdb publication page

---

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Genes

Hernández, Gonzalo G; Ferrer-Cortès, Xenia X; Venturi, Veronica V; Musri, Melina M; Pilquil, Martin Floor MF; Torres, Pau Marc Muñoz PMM; Rodríguez, Ines Hernandez IH; Mínguez, Maria Àngels Ruiz MÀR; Kelleher, Nicholas J NJ; Pelucchi, Sara S; Piperno, Alberto A; Alberca, Esther Plensa EP; Ricós, Georgina Gener GG; Giró, Eloi Cañamero EC; Pérez-Montero, Santiago S; Tornador, Cristian C; Villà-Freixa, Jordi J; Sánchez, Mayka M

Publication Date: 2021-12-13

Variant appearance in text: TFR2: Gly792Arg

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

View BVdb publication page

---

Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.

The Application Of Clinical Genetics

Kowdley, Devan S DS; Kowdley, Kris V KV

Publication Date: 2021

Variant appearance in text: TFR2: G792R

PubMed Link: 34413666

Variant Present in the following documents:

• Main text
• tacg-14-353.pdf

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TFR2: 2374G>C; G792R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: TFR2: 2374G>C; G792R

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

---

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

Molecular Genetics & Genomic Medicine

Joshi, Ricky R; Shvartsman, Maya M; Morán, Erica E; Lois, Sergi S; Aranda, Jessica J; Barqué, Anna A; de la Cruz, Xavier X; Bruguera, Miquel M; Vagace, José Manuel JM; Gervasini, Guillermo G; Sanz, Cristina C; Sánchez, Mayka M

Publication Date: 2015-05

Variant appearance in text: TFR2: Gly792Arg

PubMed Link: 26029709

Variant Present in the following documents:

• Main text
• mgg30003-0221.pdf

View BVdb publication page

---

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.

Comparative Medicine

Bartnikas, Thomas B TB; Wildt, Sheryl J SJ; Wineinger, Amy E AE; Schmitz-Abe, Klaus K; Markianos, Kyriacos K; Cooper, Dale M DM; Fleming, Mark D MD

Publication Date: 2013-04

Variant appearance in text: TFR2: G792R

PubMed Link: 23582421

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: TFR2: Gly792Arg

PubMed Link: 23049448

Variant Present in the following documents:

• Main text
• rbhh-34-311.pdf

View BVdb publication page

---

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: TFR2: Gly792Arg

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page

---

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: TFR2: Gly792Arg

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page

---