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Showing 1 to 12 of 208 entries
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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....

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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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Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.

European journal of medical genetics

Troisi S, Maitz S, Severino M, Spano A, Cappuccio G, Brunetti-Pierri N, Torella A, Nigro V, Tudp, Bilo L, Coppola A.
PMID: 34748993
Eur J Med Genet. 2021 Nov 05;65(1):104380. doi: 10.1016/j.ejmg.2021.104380. Epub 2021 Nov 05.

Pathogenic variants in KAT6A, encoding a histone acetyltransferase, have been identified as a cause of a developmental disorder with a definite clinical spectrum including intellectual disability, speech delay, dysmorphic facial features, microcephaly, cardiac and gastrointestinal defects. Seizures have been...

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Troisi S, Maitz S, Severino M, et al. Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. Eur J Med Genet. 2021;65(1):104380doi: 10.1016/j.ejmg.2021.104380.
Troisi, S., Maitz, S., Severino, M., Spano, A., Cappuccio, G., Brunetti-Pierri, N., Torella, A., Nigro, V., Tudp, Bilo, L., & Coppola, A. (2021). Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. European journal of medical genetics, 65(1), 104380. https://doi.org/10.1016/j.ejmg.2021.104380
Troisi, Serena, et al. "Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature." European journal of medical genetics vol. 65,1 (2021): 104380. doi: https://doi.org/10.1016/j.ejmg.2021.104380
Troisi S, Maitz S, Severino M, Spano A, Cappuccio G, Brunetti-Pierri N, Torella A, Nigro V, Tudp, Bilo L, Coppola A. Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature. Eur J Med Genet. 2021 Nov 05;65(1):104380. doi: 10.1016/j.ejmg.2021.104380. Epub 2021 Nov 05. PMID: 34748993.
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Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics

Digilio MC, Dentici ML, Loddo S, Laino L, Calcagni G, Genovese S, Capolino R, Bottillo I, Calvieri G, Dallapiccola B, Marino B, Novelli A, Versacci P.
PMID: 34763108
Eur J Med Genet. 2021 Nov 08;65(1):104381. doi: 10.1016/j.ejmg.2021.104381. Epub 2021 Nov 08.

The recurrent 2q13 deletion syndrome is a rare genetic disorder associated with developmental delay, cardiac and urogenital malformations, and minor facial anomalies. Congenital heart defects (CHDs) are the most frequent malformations associated with del2q13. Experimental studies in zebrafish suggest...

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Digilio MC, Dentici ML, Loddo S, et al. Congenital heart defects in the recurrent 2q13 deletion syndrome. Eur J Med Genet. 2021;65(1):104381doi: 10.1016/j.ejmg.2021.104381.
Digilio, M. C., Dentici, M. L., Loddo, S., Laino, L., Calcagni, G., Genovese, S., Capolino, R., Bottillo, I., Calvieri, G., Dallapiccola, B., Marino, B., Novelli, A., & Versacci, P. (2021). Congenital heart defects in the recurrent 2q13 deletion syndrome. European journal of medical genetics, 65(1), 104381. https://doi.org/10.1016/j.ejmg.2021.104381
Digilio, M C, et al. "Congenital heart defects in the recurrent 2q13 deletion syndrome." European journal of medical genetics vol. 65,1 (2021): 104381. doi: https://doi.org/10.1016/j.ejmg.2021.104381
Digilio MC, Dentici ML, Loddo S, Laino L, Calcagni G, Genovese S, Capolino R, Bottillo I, Calvieri G, Dallapiccola B, Marino B, Novelli A, Versacci P. Congenital heart defects in the recurrent 2q13 deletion syndrome. Eur J Med Genet. 2021 Nov 08;65(1):104381. doi: 10.1016/j.ejmg.2021.104381. Epub 2021 Nov 08. PMID: 34763108.
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A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia.

European journal of medical genetics

Park HS, Oh A, Keum CW, Lee J, Lee JK, Son BR, Shin KS, Hahn YS.
PMID: 34768012
Eur J Med Genet. 2021 Nov 09;65(1):104387. doi: 10.1016/j.ejmg.2021.104387. Epub 2021 Nov 09.

Pathogenic variants of PLCG2 encoding phospholipase C gamma 2 (PLCγ2) were first reported in 2012 and their clinical manifestations vary widely. PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammation and PLCγ2-associated antibody deficiency and immune dysregulation (APLAID) are...

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Park HS, Oh A, Keum CW, et al. A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia. Eur J Med Genet. 2021;65(1):104387doi: 10.1016/j.ejmg.2021.104387.
Park, H. S., Oh, A., Keum, C. W., Lee, J., Lee, J. K., Son, B. R., Shin, K. S., & Hahn, Y. S. (2021). A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia. European journal of medical genetics, 65(1), 104387. https://doi.org/10.1016/j.ejmg.2021.104387
Park, Hee Sue, et al. "A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia." European journal of medical genetics vol. 65,1 (2021): 104387. doi: https://doi.org/10.1016/j.ejmg.2021.104387
Park HS, Oh A, Keum CW, Lee J, Lee JK, Son BR, Shin KS, Hahn YS. A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia. Eur J Med Genet. 2021 Nov 09;65(1):104387. doi: 10.1016/j.ejmg.2021.104387. Epub 2021 Nov 09. PMID: 34768012.
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Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss.

European journal of medical genetics

Jin X, Zhang L, Wang X, An L, Huang S, Dai P, Gao H, Ma X.
PMID: 34968750
Eur J Med Genet. 2021 Dec 27;65(2):104406. doi: 10.1016/j.ejmg.2021.104406. Epub 2021 Dec 27.

Hereditary hearing loss is a common defect of the auditory nervous system with high-incidence, seriously affecting the quality of life of the patients. The clinical manifestations of SLC26A4 mutation-related hearing loss are congenital sensorineural or mixed deafness. Sensitive and...

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Jin X, Zhang L, Wang X, et al. Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss. Eur J Med Genet. 2021;65(2):104406doi: 10.1016/j.ejmg.2021.104406.
Jin, X., Zhang, L., Wang, X., An, L., Huang, S., Dai, P., Gao, H., & Ma, X. (2021). Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss. European journal of medical genetics, 65(2), 104406. https://doi.org/10.1016/j.ejmg.2021.104406
Jin, Xiaohua, et al. "Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss." European journal of medical genetics vol. 65,2 (2021): 104406. doi: https://doi.org/10.1016/j.ejmg.2021.104406
Jin X, Zhang L, Wang X, An L, Huang S, Dai P, Gao H, Ma X. Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss. Eur J Med Genet. 2021 Dec 27;65(2):104406. doi: 10.1016/j.ejmg.2021.104406. Epub 2021 Dec 27. PMID: 34968750.
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Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters.

European journal of medical genetics

Smol T, Frénois F, Manouvrier-Hanu S, Petit F, Ghoumid J.
PMID: 34798324
Eur J Med Genet. 2021 Nov 16;65(1):104398. doi: 10.1016/j.ejmg.2021.104398. Epub 2021 Nov 16.

MED13L syndrome is a rare congenital disorder comprising moderate intellectual disability, hypotonia and facial dysmorphism. Whole exome or genome sequencing in patients with non-specific neurodevelopmental disorders leads to identification of an increasing number of MED13L missense variations of unknown...

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Smol T, Frénois F, Manouvrier-Hanu S, et al. Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters. Eur J Med Genet. 2021;65(1):104398doi: 10.1016/j.ejmg.2021.104398.
Smol, T., Frénois, F., Manouvrier-Hanu, S., Petit, F., & Ghoumid, J. (2021). Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters. European journal of medical genetics, 65(1), 104398. https://doi.org/10.1016/j.ejmg.2021.104398
Smol, Thomas, et al. "Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters." European journal of medical genetics vol. 65,1 (2021): 104398. doi: https://doi.org/10.1016/j.ejmg.2021.104398
Smol T, Frénois F, Manouvrier-Hanu S, Petit F, Ghoumid J. Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters. Eur J Med Genet. 2021 Nov 16;65(1):104398. doi: 10.1016/j.ejmg.2021.104398. Epub 2021 Nov 16. PMID: 34798324.
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Duplication, not partial trisomy, is the cytogenetic term to describe a gain of a DNA segment.

European journal of medical genetics

Madan K, Miller K.
PMID: 34923169
Eur J Med Genet. 2022 Jan;65(1):104408. doi: 10.1016/j.ejmg.2021.104408. Epub 2021 Dec 16.

No abstract available.

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Madan K, Miller K. Duplication, not partial trisomy, is the cytogenetic term to describe a gain of a DNA segment. Eur J Med Genet. 2021;65(1):104408doi: 10.1016/j.ejmg.2021.104408.
Madan, K., & Miller, K. (2022). Duplication, not partial trisomy, is the cytogenetic term to describe a gain of a DNA segment. European journal of medical genetics, 65(1), 104408. https://doi.org/10.1016/j.ejmg.2021.104408
Madan, Kamlesh, and Miller, Konstantin. "Duplication, not partial trisomy, is the cytogenetic term to describe a gain of a DNA segment." European journal of medical genetics vol. 65,1 (2022): 104408. doi: https://doi.org/10.1016/j.ejmg.2021.104408
Madan K, Miller K. Duplication, not partial trisomy, is the cytogenetic term to describe a gain of a DNA segment. Eur J Med Genet. 2022 Jan;65(1):104408. doi: 10.1016/j.ejmg.2021.104408. Epub 2021 Dec 16. PMID: 34923169.
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Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?.

European journal of medical genetics

Lucci-Cordisco E, Amenta S, Panfili A, Del Valle J, Capellá G, Pineda M, Genuardi M.
PMID: 34813939
Eur J Med Genet. 2021 Nov 20;65(1):104400. doi: 10.1016/j.ejmg.2021.104400. Epub 2021 Nov 20.

One of the main factors influencing the clinical utility of genetic tests for cancer predisposition is the ability to provide actionable classifications (ie pathogenic or benign). However, a large fraction of the variants identified in cancer predisposing genes (CPGs)...

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Lucci-Cordisco E, Amenta S, Panfili A, et al. Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?. Eur J Med Genet. 2021;65(1):104400doi: 10.1016/j.ejmg.2021.104400.
Lucci-Cordisco, E., Amenta, S., Panfili, A., Del Valle, J., Capellá, G., Pineda, M., & Genuardi, M. (2021). Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?. European journal of medical genetics, 65(1), 104400. https://doi.org/10.1016/j.ejmg.2021.104400
Lucci-Cordisco, Emanuela, et al. "Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?." European journal of medical genetics vol. 65,1 (2021): 104400. doi: https://doi.org/10.1016/j.ejmg.2021.104400
Lucci-Cordisco E, Amenta S, Panfili A, Del Valle J, Capellá G, Pineda M, Genuardi M. Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?. Eur J Med Genet. 2021 Nov 20;65(1):104400. doi: 10.1016/j.ejmg.2021.104400. Epub 2021 Nov 20. PMID: 34813939.
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Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes.

European journal of medical genetics

Garcia-Pelaez J, Barbosa-Matos R, José CS, Sousa S, Gullo I, Hoogerbrugge N, Carneiro F, Oliveira C.
PMID: 34871783
Eur J Med Genet. 2021 Dec 03;104401. doi: 10.1016/j.ejmg.2021.104401. Epub 2021 Dec 03.

Tumour risk syndromes (TRS) are characterized by increased risk of early-onset cancers in a familial context. High cancer risk is mostly driven by loss-of-function variants in a single cancer-associated gene. Presently, predisposition to diffuse gastric cancer (DGC) is explained...

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Garcia-Pelaez J, Barbosa-Matos R, José CS, et al. Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes. Eur J Med Genet. 2021;104401doi: 10.1016/j.ejmg.2021.104401.
Garcia-Pelaez, J., Barbosa-Matos, R., José, C. S., Sousa, S., Gullo, I., Hoogerbrugge, N., Carneiro, F., & Oliveira, C. (2021). Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes. European journal of medical genetics, 104401. https://doi.org/10.1016/j.ejmg.2021.104401
Garcia-Pelaez, José, et al. "Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes." European journal of medical genetics vol. (2021): 104401. doi: https://doi.org/10.1016/j.ejmg.2021.104401
Garcia-Pelaez J, Barbosa-Matos R, José CS, Sousa S, Gullo I, Hoogerbrugge N, Carneiro F, Oliveira C. Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes. Eur J Med Genet. 2021 Dec 03;104401. doi: 10.1016/j.ejmg.2021.104401. Epub 2021 Dec 03. PMID: 34871783.
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Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum.

European journal of medical genetics

Villy MC, Masliah-Planchon J, Buecher B, Beaulaton C, Vincent-Salomon A, Stoppa-Lyonnet D, Colas C.
PMID: 34775073
Eur J Med Genet. 2022 Jan;65(1):104385. doi: 10.1016/j.ejmg.2021.104385. Epub 2021 Nov 11.

The MUTYH gene encodes a DNA glycosylase that prevents G:C→T:A transversions. Patients with biallelic pathogenic germline MUTYH variants develop an adenomatous polyposis called MUTYH-associated polyposis (MAP). Endometrial cancers have been reported in patients with MAP, but the role of...

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Villy MC, Masliah-Planchon J, Buecher B, et al. Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. Eur J Med Genet. 2021;65(1):104385doi: 10.1016/j.ejmg.2021.104385.
Villy, M. C., Masliah-Planchon, J., Buecher, B., Beaulaton, C., Vincent-Salomon, A., Stoppa-Lyonnet, D., & Colas, C. (2022). Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. European journal of medical genetics, 65(1), 104385. https://doi.org/10.1016/j.ejmg.2021.104385
Villy, Marie-Charlotte, et al. "Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum." European journal of medical genetics vol. 65,1 (2022): 104385. doi: https://doi.org/10.1016/j.ejmg.2021.104385
Villy MC, Masliah-Planchon J, Buecher B, Beaulaton C, Vincent-Salomon A, Stoppa-Lyonnet D, Colas C. Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum. Eur J Med Genet. 2022 Jan;65(1):104385. doi: 10.1016/j.ejmg.2021.104385. Epub 2021 Nov 11. PMID: 34775073.
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Somatic mosaics in hereditary tumor predisposition syndromes.

European journal of medical genetics

Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KB.
PMID: 34655802
Eur J Med Genet. 2021 Dec;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub 2021 Oct 13.

Historically, it is estimated that 5-10% of cancer patients carry a causative genetic variant for a tumor predisposition syndrome. These conditions have high clinical relevance as they are actionable regarding risk-specific surveillance, predictive genetic testing, reproductive options, and -...

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Steinke-Lange V, de Putter R, Holinski-Feder E, et al. Somatic mosaics in hereditary tumor predisposition syndromes. Eur J Med Genet. 2021;64(12):104360doi: 10.1016/j.ejmg.2021.104360.
Steinke-Lange, V., de Putter, R., Holinski-Feder, E., & Claes, K. B. (2021). Somatic mosaics in hereditary tumor predisposition syndromes. European journal of medical genetics, 64(12), 104360. https://doi.org/10.1016/j.ejmg.2021.104360
Steinke-Lange, Verena, et al. "Somatic mosaics in hereditary tumor predisposition syndromes." European journal of medical genetics vol. 64,12 (2021): 104360. doi: https://doi.org/10.1016/j.ejmg.2021.104360
Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KB. Somatic mosaics in hereditary tumor predisposition syndromes. Eur J Med Genet. 2021 Dec;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub 2021 Oct 13. PMID: 34655802.
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Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect.

European journal of medical genetics

Huang S, Wu Y, Chen S, Yang Y, Wang Y, Wang H, Li P, Zhuang J, Xia Y.
PMID: 34481090
Eur J Med Genet. 2021 Nov;64(11):104314. doi: 10.1016/j.ejmg.2021.104314. Epub 2021 Sep 01.

OBJECTIVE: Atrial septal defect, secundum (ASD Ⅱ, OMIM: 603642) is the second common congenital heart defect (CHD) in China. However, the genetic etiology of familial ASD II remains elusive.METHODS AND RESULTS: Using whole-exome sequencing (WES) and Sanger sequencing, we...

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Huang S, Wu Y, Chen S, et al. Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect. Eur J Med Genet. 2021;64(11):104314doi: 10.1016/j.ejmg.2021.104314.
Huang, S., Wu, Y., Chen, S., Yang, Y., Wang, Y., Wang, H., Li, P., Zhuang, J., & Xia, Y. (2021). Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect. European journal of medical genetics, 64(11), 104314. https://doi.org/10.1016/j.ejmg.2021.104314
Huang, Shufang, et al. "Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect." European journal of medical genetics vol. 64,11 (2021): 104314. doi: https://doi.org/10.1016/j.ejmg.2021.104314
Huang S, Wu Y, Chen S, Yang Y, Wang Y, Wang H, Li P, Zhuang J, Xia Y. Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect. Eur J Med Genet. 2021 Nov;64(11):104314. doi: 10.1016/j.ejmg.2021.104314. Epub 2021 Sep 01. PMID: 34481090.
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Showing 1 to 12 of 208 entries