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Fanconi anemia protein FANCD2 inhibits TRF1 polyADP-ribosylation through tankyrase1-dependent manner.

Genome integrity

Lyakhovich A, Ramirez MJ, Castellanos A, Castella M, Simons AM, Parvin JD, Surralles J.
PMID: 21314979
Genome Integr. 2011 Feb 12;2(1):4. doi: 10.1186/2041-9414-2-4.

BACKGROUND: Fanconi anemia (FA) is a rare autosomal recessive syndrome characterized by developmental abnormalities, progressive bone marrow failure, and predisposition to cancer. The key FA protein FANCD2 crosstalks with members of DNA damage and repair pathways that also play...

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Lyakhovich A, Ramirez MJ, Castellanos A, et al. Fanconi anemia protein FANCD2 inhibits TRF1 polyADP-ribosylation through tankyrase1-dependent manner. Genome Integr. 2011;2(1):4doi: 10.1186/2041-9414-2-4.
Lyakhovich, A., Ramirez, M. J., Castellanos, A., Castella, M., Simons, A. M., Parvin, J. D., & Surralles, J. (2011). Fanconi anemia protein FANCD2 inhibits TRF1 polyADP-ribosylation through tankyrase1-dependent manner. Genome integrity, 2(1), 4. https://doi.org/10.1186/2041-9414-2-4
Lyakhovich, Alex, et al. "Fanconi anemia protein FANCD2 inhibits TRF1 polyADP-ribosylation through tankyrase1-dependent manner." Genome integrity vol. 2,1 (2011): 4. doi: https://doi.org/10.1186/2041-9414-2-4
Lyakhovich A, Ramirez MJ, Castellanos A, Castella M, Simons AM, Parvin JD, Surralles J. Fanconi anemia protein FANCD2 inhibits TRF1 polyADP-ribosylation through tankyrase1-dependent manner. Genome Integr. 2011 Feb 12;2(1):4. doi: 10.1186/2041-9414-2-4. PMID: 21314979; PMCID: PMC3048478.
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Fanconi-like anemia related to a FANCM mutation.

European journal of medical genetics

Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J.
PMID: 34793962
Eur J Med Genet. 2021 Nov 15;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15.

Fanconi anemia is primarily inherited as an autosomal recessive genetic disorder with common delays in diagnosis and challenging treatments. Fanconi anemia patients have a high risk of developing solid tumors, particularly in the head and neck or anogenital regions....

Cite
Encarnación JA, Cerezuela P, Español I, et al. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021;65(1):104399doi: 10.1016/j.ejmg.2021.104399.
Encarnación, J. A., Cerezuela, P., Español, I., García, M. R., Manso, C., De la Fuente, I., Garrigós, N., Viney, A., Minguillon, J., & Surrallés, J. (2021). Fanconi-like anemia related to a FANCM mutation. European journal of medical genetics, 65(1), 104399. https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación, J A, et al. "Fanconi-like anemia related to a FANCM mutation." European journal of medical genetics vol. 65,1 (2021): 104399. doi: https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021 Nov 15;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15. PMID: 34793962.
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Clinical consequences of BRCA2 hypomorphism.

NPJ breast cancer

Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J.
PMID: 34504103
NPJ Breast Cancer. 2021 Sep 09;7(1):117. doi: 10.1038/s41523-021-00322-9.

The tumor suppressor FANCD1/BRCA2 is crucial for DNA homologous recombination repair (HRR). BRCA2 biallelic pathogenic variants result in a severe form of Fanconi anemia (FA) syndrome, whereas monoallelic pathogenic variants cause mainly hereditary breast and ovarian cancer predisposition. For...

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Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, et al. Clinical consequences of BRCA2 hypomorphism. NPJ Breast Cancer. 2021;7(1):117doi: 10.1038/s41523-021-00322-9.
Castells-Roca, L., Gutiérrez-Enríquez, S., Bonache, S., Bogliolo, M., Carrasco, E., Aza-Carmona, M., Montalban, G., Muñoz-Subirana, N., Pujol, R., Cruz, C., Llop-Guevara, A., Ramírez, M. J., Saura, C., Lasa, A., Serra, V., Diez, O., Balmaña, J., & Surrallés, J. (2021). Clinical consequences of BRCA2 hypomorphism. NPJ breast cancer, 7(1), 117. https://doi.org/10.1038/s41523-021-00322-9
Castells-Roca, Laia, et al. "Clinical consequences of BRCA2 hypomorphism." NPJ breast cancer vol. 7,1 (2021): 117. doi: https://doi.org/10.1038/s41523-021-00322-9
Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J. Clinical consequences of BRCA2 hypomorphism. NPJ Breast Cancer. 2021 Sep 09;7(1):117. doi: 10.1038/s41523-021-00322-9. PMID: 34504103; PMCID: PMC8429460.
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Fanconi-like anemia related to a FANCM mutation.

European journal of medical genetics

Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J.
PMID: 34793962
Eur J Med Genet. 2022 Jan;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15.

Fanconi anemia is primarily inherited as an autosomal recessive genetic disorder with common delays in diagnosis and challenging treatments. Fanconi anemia patients have a high risk of developing solid tumors, particularly in the head and neck or anogenital regions....

Cite
Encarnación JA, Cerezuela P, Español I, et al. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021;65(1):104399doi: 10.1016/j.ejmg.2021.104399.
Encarnación, J. A., Cerezuela, P., Español, I., García, M. R., Manso, C., De la Fuente, I., Garrigós, N., Viney, A., Minguillon, J., & Surrallés, J. (2022). Fanconi-like anemia related to a FANCM mutation. European journal of medical genetics, 65(1), 104399. https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación, J A, et al. "Fanconi-like anemia related to a FANCM mutation." European journal of medical genetics vol. 65,1 (2022): 104399. doi: https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2022 Jan;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15. PMID: 34793962.
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Fanconi-like anemia related to a FANCM mutation.

European journal of medical genetics

Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J.
PMID: 34793962
Eur J Med Genet. 2021 Nov 15;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15.

Fanconi anemia is primarily inherited as an autosomal recessive genetic disorder with common delays in diagnosis and challenging treatments. Fanconi anemia patients have a high risk of developing solid tumors, particularly in the head and neck or anogenital regions....

Cite
Encarnación JA, Cerezuela P, Español I, et al. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021;65(1):104399doi: 10.1016/j.ejmg.2021.104399.
Encarnación, J. A., Cerezuela, P., Español, I., García, M. R., Manso, C., De la Fuente, I., Garrigós, N., Viney, A., Minguillon, J., & Surrallés, J. (2021). Fanconi-like anemia related to a FANCM mutation. European journal of medical genetics, 65(1), 104399. https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación, J A, et al. "Fanconi-like anemia related to a FANCM mutation." European journal of medical genetics vol. 65,1 (2021): 104399. doi: https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021 Nov 15;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15. PMID: 34793962.
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Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.

Molecular syndromology

Moreno OM, Sánchez AI, Herreño A, Giraldo G, Suárez F, Prieto JC, Clavijo AS, Olaya M, Vargas Y, Benítez J, Surallés J, Rojas A.
PMID: 33505230
Mol Syndromol. 2020 Dec;11(5):271-283. doi: 10.1159/000510910. Epub 2020 Nov 11.

VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence...

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Moreno OM, Sánchez AI, Herreño A, et al. Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. Mol Syndromol. 2020;11(5):271-283doi: 10.1159/000510910.
Moreno, O. M., Sánchez, A. I., Herreño, A., Giraldo, G., Suárez, F., Prieto, J. C., Clavijo, A. S., Olaya, M., Vargas, Y., Benítez, J., Surallés, J., & Rojas, A. (2020). Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. Molecular syndromology, 11(5), 271-283. https://doi.org/10.1159/000510910
Moreno, Olga M, et al. "Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association." Molecular syndromology vol. 11,5 (2020): 271-283. doi: https://doi.org/10.1159/000510910
Moreno OM, Sánchez AI, Herreño A, Giraldo G, Suárez F, Prieto JC, Clavijo AS, Olaya M, Vargas Y, Benítez J, Surallés J, Rojas A. Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. Mol Syndromol. 2020 Dec;11(5):271-283. doi: 10.1159/000510910. Epub 2020 Nov 11. PMID: 33505230; PMCID: PMC7802448.
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Fanconi-like anemia related to a FANCM mutation.

European journal of medical genetics

Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J.
PMID: 34793962
Eur J Med Genet. 2021 Nov 15;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15.

Fanconi anemia is primarily inherited as an autosomal recessive genetic disorder with common delays in diagnosis and challenging treatments. Fanconi anemia patients have a high risk of developing solid tumors, particularly in the head and neck or anogenital regions....

Cite
Encarnación JA, Cerezuela P, Español I, et al. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021;65(1):104399doi: 10.1016/j.ejmg.2021.104399.
Encarnación, J. A., Cerezuela, P., Español, I., García, M. R., Manso, C., De la Fuente, I., Garrigós, N., Viney, A., Minguillon, J., & Surrallés, J. (2021). Fanconi-like anemia related to a FANCM mutation. European journal of medical genetics, 65(1), 104399. https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación, J A, et al. "Fanconi-like anemia related to a FANCM mutation." European journal of medical genetics vol. 65,1 (2021): 104399. doi: https://doi.org/10.1016/j.ejmg.2021.104399
Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J. Fanconi-like anemia related to a FANCM mutation. Eur J Med Genet. 2021 Nov 15;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15. PMID: 34793962.
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Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients.

Genome integrity

Joksic I, Vujic D, Guc-Scekic M, Leskovac A, Petrovic S, Ojani M, Trujillo JP, Surralles J, Zivkovic M, Stankovic A, Slijepcevic P, Joksic G.
PMID: 22980747
Genome Integr. 2012 Sep 14;3(1):6. doi: 10.1186/2041-9414-3-6.

BACKGROUND: Fanconi anemia (FA) is characterized by sensitivity to DNA cross-linking agents, mild cellular, and marked clinical radio sensitivity. In this study we investigated telomeric abnormalities of non-immortalized primary cells (lymphocytes and fibroblasts) derived from FA patients of the...

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Joksic I, Vujic D, Guc-Scekic M, et al. Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients. Genome Integr. 2012;3(1):6doi: 10.1186/2041-9414-3-6.
Joksic, I., Vujic, D., Guc-Scekic, M., Leskovac, A., Petrovic, S., Ojani, M., Trujillo, J. P., Surralles, J., Zivkovic, M., Stankovic, A., Slijepcevic, P., & Joksic, G. (2012). Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients. Genome integrity, 3(1), 6. https://doi.org/10.1186/2041-9414-3-6
Joksic, Ivana, et al. "Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients." Genome integrity vol. 3,1 (2012): 6. doi: https://doi.org/10.1186/2041-9414-3-6
Joksic I, Vujic D, Guc-Scekic M, Leskovac A, Petrovic S, Ojani M, Trujillo JP, Surralles J, Zivkovic M, Stankovic A, Slijepcevic P, Joksic G. Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients. Genome Integr. 2012 Sep 14;3(1):6. doi: 10.1186/2041-9414-3-6. PMID: 22980747; PMCID: PMC3511208.
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Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients.

Cancers

Riera P, Rodríguez-Santiago B, Lasa A, Gonzalez-Quereda L, Martín B, Salazar J, Sebio A, Virgili AC, Minguillón J, Camps C, Surrallés J, Páez D.
PMID: 32796636
Cancers (Basel). 2020 Aug 11;12(8). doi: 10.3390/cancers12082245.

BACKGROUND: About 40% of PATIENTS AND METHODS: Tumor (somatic) and blood (germline) DNA samples were obtained from two well-defined cohorts of mCRC patients, those sensitive and those resistant to EGFR blockade. Genetic variant screening of 43 EGFR-related genes was...

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Riera P, Rodríguez-Santiago B, Lasa A, et al. Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients. Cancers (Basel). 2020;12(8)doi: 10.3390/cancers12082245.
Riera, P., Rodríguez-Santiago, B., Lasa, A., Gonzalez-Quereda, L., Martín, B., Salazar, J., Sebio, A., Virgili, A. C., Minguillón, J., Camps, C., Surrallés, J., & Páez, D. (2020). Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients. Cancers, 12(8), . https://doi.org/10.3390/cancers12082245
Riera, Pau, et al. "Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients." Cancers vol. 12,8 (2020). doi: https://doi.org/10.3390/cancers12082245
Riera P, Rodríguez-Santiago B, Lasa A, Gonzalez-Quereda L, Martín B, Salazar J, Sebio A, Virgili AC, Minguillón J, Camps C, Surrallés J, Páez D. Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients. Cancers (Basel). 2020 Aug 11;12(8). doi: 10.3390/cancers12082245. PMID: 32796636; PMCID: PMC7463997.
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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

American journal of human genetics

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.
PMID: 30193137
Am J Hum Genet. 2018 Sep 06;103(3):456. doi: 10.1016/j.ajhg.2018.08.012.

No abstract available.

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Martin CA, Sarlós K, Logan CV, et al. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet. 2018;103(3):456doi: 10.1016/j.ajhg.2018.08.012.
Martin, C. A., Sarlós, K., Logan, C. V., Thakur, R. S., Parry, D. A., Bizard, A. H., Leitch, A., Cleal, L., Ali, N. S., Al-Owain, M. A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B. A. Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M. T., Cruz-Rojo, J., Dhahrabi, H. A. M., Elcioglu, N. H., Gorman, G. S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A. J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M. J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R. W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F. S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K. E., Hickson, I. D., & Jackson, A. P. (2018). Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. American journal of human genetics, 103(3), 456. https://doi.org/10.1016/j.ajhg.2018.08.012
Martin, Carol-Anne, et al. "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder." American journal of human genetics vol. 103,3 (2018): 456. doi: https://doi.org/10.1016/j.ajhg.2018.08.012
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet. 2018 Sep 06;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. PMID: 30193137; PMCID: PMC6128302.
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Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.

Blood advances

Reina-Castillón J, Pujol R, López-Sánchez M, Rodríguez-Santiago B, Aza-Carmona M, González JR, Casado JA, Bueren JA, Sevilla J, Badel I, Català A, Beléndez C, Dasí MÁ, Díaz de Heredia C, Soulier J, Schindler D, Pérez-Jurado LA, Surrallés J.
PMID: 29296947
Blood Adv. 2017 Jan 23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943. eCollection 2017 Jan 24.

Detectable clonal mosaicism for large chromosomal events has been associated with aging and an increased risk of hematological and some solid cancers. We hypothesized that genetic cancer predisposition disorders, such as Fanconi anemia (FA), could manifest a high rate...

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Reina-Castillón J, Pujol R, López-Sánchez M, et al. Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia. Blood Adv. 2017;1(5):319-329doi: 10.1182/bloodadvances.2016000943.
Reina-Castillón, J., Pujol, R., López-Sánchez, M., Rodríguez-Santiago, B., Aza-Carmona, M., González, J. R., Casado, J. A., Bueren, J. A., Sevilla, J., Badel, I., Català, A., Beléndez, C., Dasí, M. �. �., Díaz de Heredia, C., Soulier, J., Schindler, D., Pérez-Jurado, L. A., & Surrallés, J. (2017). Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia. Blood advances, 1(5), 319-329. https://doi.org/10.1182/bloodadvances.2016000943
Reina-Castillón, Judith, et al. "Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia." Blood advances vol. 1,5 (2017): 319-329. doi: https://doi.org/10.1182/bloodadvances.2016000943
Reina-Castillón J, Pujol R, López-Sánchez M, Rodríguez-Santiago B, Aza-Carmona M, González JR, Casado JA, Bueren JA, Sevilla J, Badel I, Català A, Beléndez C, Dasí MÁ, Díaz de Heredia C, Soulier J, Schindler D, Pérez-Jurado LA, Surrallés J. Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia. Blood Adv. 2017 Jan 23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943. eCollection 2017 Jan 24. PMID: 29296947; PMCID: PMC5744036.
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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

American journal of human genetics

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.
PMID: 30057030
Am J Hum Genet. 2018 Aug 02;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26.

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on...

Cite
Martin CA, Sarlós K, Logan CV, et al. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet. 2018;103(2):221-231doi: 10.1016/j.ajhg.2018.07.001.
Martin, C. A., Sarlós, K., Logan, C. V., Thakur, R. S., Parry, D. A., Bizard, A. H., Leitch, A., Cleal, L., Ali, N. S., Al-Owain, M. A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B. A. Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M. T., Cruz-Rojo, J., Dhahrabi, H. A. M., Elcioglu, N. H., Gorman, G. S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A. J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M. J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R. W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F. S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K. E., Hickson, I. D., & Jackson, A. P. (2018). Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. American journal of human genetics, 103(2), 221-231. https://doi.org/10.1016/j.ajhg.2018.07.001
Martin, Carol-Anne, et al. "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder." American journal of human genetics vol. 103,2 (2018): 221-231. doi: https://doi.org/10.1016/j.ajhg.2018.07.001
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet. 2018 Aug 02;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. PMID: 30057030; PMCID: PMC6080766.
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