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Showing 1 to 12 of 12 entries
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A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

Anemia

de Vries Y, Lwiwski N, Levitus M, Kuyt B, Israels SJ, Arwert F, Zwaan M, Greenberg CR, Alter BP, Joenje H, Meijers-Heijboer H.
PMID: 22701786
Anemia. 2012;2012:865170. doi: 10.1155/2012/865170. Epub 2012 Jun 04.

Fanconi anemia (FA) is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. Based on their sensitivity to DNA cross-linking agents, FA cells have been assigned to 15 complementation groups, and...

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de Vries Y, Lwiwski N, Levitus M, et al. A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites. Anemia. 2012;2012:865170doi: 10.1155/2012/865170.
de Vries, Y., Lwiwski, N., Levitus, M., Kuyt, B., Israels, S. J., Arwert, F., Zwaan, M., Greenberg, C. R., Alter, B. P., Joenje, H., & Meijers-Heijboer, H. (2012). A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites. Anemia, 2012865170. https://doi.org/10.1155/2012/865170
de Vries, Yne, et al. "A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites." Anemia vol. 2012 (2012): 865170. doi: https://doi.org/10.1155/2012/865170
de Vries Y, Lwiwski N, Levitus M, Kuyt B, Israels SJ, Arwert F, Zwaan M, Greenberg CR, Alter BP, Joenje H, Meijers-Heijboer H. A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites. Anemia. 2012;2012:865170. doi: 10.1155/2012/865170. Epub 2012 Jun 04. PMID: 22701786; PMCID: PMC3372307.
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Coregulation of FANCA and BRCA1 in human cells.

SpringerPlus

Haitjema A, Mol BM, Kooi IE, Massink MP, Jørgensen JA, Rockx DA, Rooimans MA, de Winter JP, Meijers-Heijboer H, Joenje H, Dorsman JC.
PMID: 25161863
Springerplus. 2014 Jul 28;3:381. doi: 10.1186/2193-1801-3-381. eCollection 2014.

Fanconi anemia (FA) is a genetically heterogeneous syndrome associated with increased cancer predisposition. The underlying genes govern the FA pathway which functions to protect the genome during the S-phase of the cell cycle. While upregulation of FA genes has...

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Haitjema A, Mol BM, Kooi IE, et al. Coregulation of FANCA and BRCA1 in human cells. Springerplus. 2014;3:381doi: 10.1186/2193-1801-3-381.
Haitjema, A., Mol, B. M., Kooi, I. E., Massink, M. P., Jørgensen, J. A., Rockx, D. A., Rooimans, M. A., de Winter, J. P., Meijers-Heijboer, H., Joenje, H., & Dorsman, J. C. (2014). Coregulation of FANCA and BRCA1 in human cells. SpringerPlus, 3381. https://doi.org/10.1186/2193-1801-3-381
Haitjema, Anneke, et al. "Coregulation of FANCA and BRCA1 in human cells." SpringerPlus vol. 3 (2014): 381. doi: https://doi.org/10.1186/2193-1801-3-381
Haitjema A, Mol BM, Kooi IE, Massink MP, Jørgensen JA, Rockx DA, Rooimans MA, de Winter JP, Meijers-Heijboer H, Joenje H, Dorsman JC. Coregulation of FANCA and BRCA1 in human cells. Springerplus. 2014 Jul 28;3:381. doi: 10.1186/2193-1801-3-381. eCollection 2014. PMID: 25161863; PMCID: PMC4143540.
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Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Human reproduction (Oxford, England)

Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meißner A, Kaminsky E, Wöste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tüttelmann F.
PMID: 34755185
Hum Reprod. 2021 Nov 10; doi: 10.1093/humrep/deab230. Epub 2021 Nov 10.

STUDY QUESTION: Do bi-allelic variants in the genes encoding the MSH4/MSH5 heterodimer cause male infertility?SUMMARY ANSWER: We detected biallelic, (likely) pathogenic variants in MSH5 (4 men) and MSH4 (3 men) in six azoospermic men, demonstrating that genetic variants in...

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Wyrwoll MJ, van Walree ES, Hamer G, et al. Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. Hum Reprod. 2021;doi: 10.1093/humrep/deab230.
Wyrwoll, M. J., van Walree, E. S., Hamer, G., Rotte, N., Motazacker, M. M., Meijers-Heijboer, H., Alders, M., Meißner, A., Kaminsky, E., Wöste, M., Krallmann, C., Kliesch, S., Hunt, T. J., Clark, A. T., Silber, S., Stallmeyer, B., Friedrich, C., van Pelt, A. M. M., Mathijssen, I. B., & Tüttelmann, F. (2021). Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. Human reproduction (Oxford, England), . https://doi.org/10.1093/humrep/deab230
Wyrwoll, M J, et al. "Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes." Human reproduction (Oxford, England) vol. (2021). doi: https://doi.org/10.1093/humrep/deab230
Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meißner A, Kaminsky E, Wöste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tüttelmann F. Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. Hum Reprod. 2021 Nov 10; doi: 10.1093/humrep/deab230. Epub 2021 Nov 10. PMID: 34755185.
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Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients.

Obesity surgery

Cooiman MI, Alsters SIM, Duquesnoy M, Hazebroek EJ, Meijers-Heijboer HJ, Chahal H, Le Beyec-Le Bihan J, Clément K, Soula H, Blakemore AI, Poitou C, van Haelst MM.
PMID: 34984630
Obes Surg. 2022 Jan 04; doi: 10.1007/s11695-021-05869-x. Epub 2022 Jan 04.

INTRODUCTION: Pathogenic heterozygous MC4R variants are associated with hyperphagia and variable degrees of obesity. Several research groups have reported short-term weight loss outcomes after bariatric surgery in a few patients with MC4R variants, but lack of longer-term data prevents...

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Cooiman MI, Alsters SIM, Duquesnoy M, et al. Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients. Obes Surg. 2022;doi: 10.1007/s11695-021-05869-x.
Cooiman, M. I., Alsters, S. I. M., Duquesnoy, M., Hazebroek, E. J., Meijers-Heijboer, H. J., Chahal, H., Le Beyec-Le Bihan, J., Clément, K., Soula, H., Blakemore, A. I., Poitou, C., & van Haelst, M. M. (2022). Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients. Obesity surgery, . https://doi.org/10.1007/s11695-021-05869-x
Cooiman, Mellody I, et al. "Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients." Obesity surgery vol. (2022). doi: https://doi.org/10.1007/s11695-021-05869-x
Cooiman MI, Alsters SIM, Duquesnoy M, Hazebroek EJ, Meijers-Heijboer HJ, Chahal H, Le Beyec-Le Bihan J, Clément K, Soula H, Blakemore AI, Poitou C, van Haelst MM. Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients. Obes Surg. 2022 Jan 04; doi: 10.1007/s11695-021-05869-x. Epub 2022 Jan 04. PMID: 34984630.
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Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.

eLife

Glykofridis IE, Knol JC, Balk JA, Westland D, Pham TV, Piersma SR, Lougheed SM, Derakhshan S, Veen P, Rooimans MA, van Mil SE, Böttger F, Poddighe PJ, van de Beek I, Drost J, Zwartkruis FJ, de Menezes RX, Meijers-Heijboer HE, Houweling AC, Jimenez CR, Wolthuis RM.
PMID: 33459596
Elife. 2021 Jan 18;10. doi: 10.7554/eLife.61630.

Germline mutations in the Folliculin (

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Glykofridis IE, Knol JC, Balk JA, et al. Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. Elife. 2021;10doi: 10.7554/eLife.61630.
Glykofridis, I. E., Knol, J. C., Balk, J. A., Westland, D., Pham, T. V., Piersma, S. R., Lougheed, S. M., Derakhshan, S., Veen, P., Rooimans, M. A., van Mil, S. E., Böttger, F., Poddighe, P. J., van de Beek, I., Drost, J., Zwartkruis, F. J., de Menezes, R. X., Meijers-Heijboer, H. E., Houweling, A. C., Jimenez, C. R., & Wolthuis, R. M. (2021). Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. eLife, 10. https://doi.org/10.7554/eLife.61630
Glykofridis, Iris E, et al. "Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells." eLife vol. 10 (2021). doi: https://doi.org/10.7554/eLife.61630
Glykofridis IE, Knol JC, Balk JA, Westland D, Pham TV, Piersma SR, Lougheed SM, Derakhshan S, Veen P, Rooimans MA, van Mil SE, Böttger F, Poddighe PJ, van de Beek I, Drost J, Zwartkruis FJ, de Menezes RX, Meijers-Heijboer HE, Houweling AC, Jimenez CR, Wolthuis RM. Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. Elife. 2021 Jan 18;10. doi: 10.7554/eLife.61630. PMID: 33459596; PMCID: PMC7899648.
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Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation.

Journal of community genetics

Holtkamp KCA, Henneman L, Gille JJP, Meijers-Heijboer H, Cornel MC, Lakeman P.
PMID: 30229537
J Community Genet. 2019 Apr;10(2):249-257. doi: 10.1007/s12687-018-0388-y. Epub 2018 Sep 18.

A Dutch university hospital started offering cystic fibrosis (CF) carrier screening directly to consumers (DTC) through their website in 2010. A 6-year process evaluation was conducted to evaluate the offer. Screening was implemented as intended. However, uptake was lower...

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Holtkamp KCA, Henneman L, Gille JJP, et al. Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation. J Community Genet. 2018;10(2):249-257doi: 10.1007/s12687-018-0388-y.
Holtkamp, K. C. A., Henneman, L., Gille, J. J. P., Meijers-Heijboer, H., Cornel, M. C., & Lakeman, P. (2019). Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation. Journal of community genetics, 10(2), 249-257. https://doi.org/10.1007/s12687-018-0388-y
Holtkamp, Kim C A, et al. "Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation." Journal of community genetics vol. 10,2 (2019): 249-257. doi: https://doi.org/10.1007/s12687-018-0388-y
Holtkamp KCA, Henneman L, Gille JJP, Meijers-Heijboer H, Cornel MC, Lakeman P. Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation. J Community Genet. 2019 Apr;10(2):249-257. doi: 10.1007/s12687-018-0388-y. Epub 2018 Sep 18. PMID: 30229537; PMCID: PMC6435772.
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Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy.

Frontiers in medicine

Stuurman KE, van der Mespel-Brouwer MH, Engels MAJ, Elting MW, Bhola SL, Meijers-Heijboer H.
PMID: 34733861
Front Med (Lausanne). 2021 Oct 18;8:737936. doi: 10.3389/fmed.2021.737936. eCollection 2021.

No abstract available.

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Stuurman KE, van der Mespel-Brouwer MH, Engels MAJ, et al. Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy. Front Med (Lausanne). 2021;8:737936doi: 10.3389/fmed.2021.737936.
Stuurman, K. E., van der Mespel-Brouwer, M. H., Engels, M. A. J., Elting, M. W., Bhola, S. L., & Meijers-Heijboer, H. (2021). Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy. Frontiers in medicine, 8737936. https://doi.org/10.3389/fmed.2021.737936
Stuurman, Kyra E, et al. "Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy." Frontiers in medicine vol. 8 (2021): 737936. doi: https://doi.org/10.3389/fmed.2021.737936
Stuurman KE, van der Mespel-Brouwer MH, Engels MAJ, Elting MW, Bhola SL, Meijers-Heijboer H. Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy. Front Med (Lausanne). 2021 Oct 18;8:737936. doi: 10.3389/fmed.2021.737936. eCollection 2021. PMID: 34733861; PMCID: PMC8558347.
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Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Human reproduction (Oxford, England)

Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meißner A, Kaminsky E, Wöste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tüttelmann F.
PMID: 34755185
Hum Reprod. 2021 Dec 27;37(1):178-189. doi: 10.1093/humrep/deab230.

STUDY QUESTION: Do bi-allelic variants in the genes encoding the MSH4/MSH5 heterodimer cause male infertility?SUMMARY ANSWER: We detected biallelic, (likely) pathogenic variants in MSH5 (4 men) and MSH4 (3 men) in six azoospermic men, demonstrating that genetic variants in...

Cite
Wyrwoll MJ, van Walree ES, Hamer G, et al. Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. Hum Reprod. 2021;37(1):178-189doi: 10.1093/humrep/deab230.
Wyrwoll, M. J., van Walree, E. S., Hamer, G., Rotte, N., Motazacker, M. M., Meijers-Heijboer, H., Alders, M., Meißner, A., Kaminsky, E., Wöste, M., Krallmann, C., Kliesch, S., Hunt, T. J., Clark, A. T., Silber, S., Stallmeyer, B., Friedrich, C., van Pelt, A. M. M., Mathijssen, I. B., & Tüttelmann, F. (2021). Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. Human reproduction (Oxford, England), 37(1), 178-189. https://doi.org/10.1093/humrep/deab230
Wyrwoll, M J, et al. "Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes." Human reproduction (Oxford, England) vol. 37,1 (2021): 178-189. doi: https://doi.org/10.1093/humrep/deab230
Wyrwoll MJ, van Walree ES, Hamer G, Rotte N, Motazacker MM, Meijers-Heijboer H, Alders M, Meißner A, Kaminsky E, Wöste M, Krallmann C, Kliesch S, Hunt TJ, Clark AT, Silber S, Stallmeyer B, Friedrich C, van Pelt AMM, Mathijssen IB, Tüttelmann F. Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. Hum Reprod. 2021 Dec 27;37(1):178-189. doi: 10.1093/humrep/deab230. PMID: 34755185.
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Genetic counselling for pulmonary arterial hypertension: a matter of variable variability.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

Leter EM, Boonstra AB, Postma FB, Gille JJ, Meijers-Heijboer EJ, Vonk Noordegraaf A.
PMID: 22020945
Neth Heart J. 2011 Feb;19(2):89-92. doi: 10.1007/s12471-010-0064-2.

We report three cases which highlight the complex considerations surrounding genetic counselling for pulmonary arterial hypertension (PAH). The first counselee developed PAH symptoms shortly after his daughter's death from PAH and was diagnosed with a delay of 1 year....

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Leter EM, Boonstra AB, Postma FB, et al. Genetic counselling for pulmonary arterial hypertension: a matter of variable variability. Neth Heart J. 2011;19(2):89-92doi: 10.1007/s12471-010-0064-2.
Leter, E. M., Boonstra, A. B., Postma, F. B., Gille, J. J., Meijers-Heijboer, E. J., & Vonk Noordegraaf, A. (2011). Genetic counselling for pulmonary arterial hypertension: a matter of variable variability. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 19(2), 89-92. https://doi.org/10.1007/s12471-010-0064-2
Leter, E M, et al. "Genetic counselling for pulmonary arterial hypertension: a matter of variable variability." Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation vol. 19,2 (2011): 89-92. doi: https://doi.org/10.1007/s12471-010-0064-2
Leter EM, Boonstra AB, Postma FB, Gille JJ, Meijers-Heijboer EJ, Vonk Noordegraaf A. Genetic counselling for pulmonary arterial hypertension: a matter of variable variability. Neth Heart J. 2011 Feb;19(2):89-92. doi: 10.1007/s12471-010-0064-2. PMID: 22020945; PMCID: PMC3077849.
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Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

European journal of human genetics : EJHG

van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM.
PMID: 23819146
Eur J Hum Genet. 2013 Jun;21:S1-5.

No abstract available.

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van El CG, Cornel MC, Borry P, et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:S1-5
van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., Howard, H. C., Cambon-Thomsen, A., Knoppers, B. M., Meijers-Heijboer, H., Scheffer, H., Tranebjaerg, L., Dondorp, W., de Wert, G. M. (2013). Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. European journal of human genetics : EJHG, 21S1-5.
van El, Carla G, et al. "Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics." European journal of human genetics : EJHG vol. 21 (2013): S1-5.
van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013 Jun;21:S1-5. PMID: 23819146; PMCID: PMC3660957.
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The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

Hereditary cancer in clinical practice

Ruijs MW, Broeks A, Menko FH, Ausems MG, Wagner A, Oldenburg R, Meijers-Heijboer H, van't Veer LJ, Verhoef S.
PMID: 19338683
Hered Cancer Clin Pract. 2009 Feb 17;7(1):4. doi: 10.1186/1897-4287-7-4.

BACKGROUND: CHEK2 has previously been excluded as a major cause of Li-Fraumeni syndrome (LFS). One particular CHEK2 germline mutation, c.1100delC, has been shown to be associated with elevated breast cancer risk. The prevalence of CHEK2*1100delC differs between populations and...

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Ruijs MW, Broeks A, Menko FH, et al. The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. Hered Cancer Clin Pract. 2009;7(1):4doi: 10.1186/1897-4287-7-4.
Ruijs, M. W., Broeks, A., Menko, F. H., Ausems, M. G., Wagner, A., Oldenburg, R., Meijers-Heijboer, H., van't Veer, L. J., & Verhoef, S. (2009). The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. Hereditary cancer in clinical practice, 7(1), 4. https://doi.org/10.1186/1897-4287-7-4
Ruijs, Marielle W G, et al. "The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype." Hereditary cancer in clinical practice vol. 7,1 (2009): 4. doi: https://doi.org/10.1186/1897-4287-7-4
Ruijs MW, Broeks A, Menko FH, Ausems MG, Wagner A, Oldenburg R, Meijers-Heijboer H, van't Veer LJ, Verhoef S. The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. Hered Cancer Clin Pract. 2009 Feb 17;7(1):4. doi: 10.1186/1897-4287-7-4. PMID: 19338683; PMCID: PMC2664322.
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With expanded carrier screening, founder populations run the risk of being overlooked.

Journal of community genetics

Mathijssen IB, van Maarle MC, Kleiss IIM, Redeker EJW, Ten Kate LP, Henneman L, Meijers-Heijboer H.
PMID: 28555434
J Community Genet. 2017 Oct;8(4):327-333. doi: 10.1007/s12687-017-0309-5. Epub 2017 May 29.

Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations...

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Mathijssen IB, van Maarle MC, Kleiss IIM, et al. With expanded carrier screening, founder populations run the risk of being overlooked. J Community Genet. 2017;8(4):327-333doi: 10.1007/s12687-017-0309-5.
Mathijssen, I. B., van Maarle, M. C., Kleiss, I. I. M., Redeker, E. J. W., Ten Kate, L. P., Henneman, L., & Meijers-Heijboer, H. (2017). With expanded carrier screening, founder populations run the risk of being overlooked. Journal of community genetics, 8(4), 327-333. https://doi.org/10.1007/s12687-017-0309-5
Mathijssen, Inge B, et al. "With expanded carrier screening, founder populations run the risk of being overlooked." Journal of community genetics vol. 8,4 (2017): 327-333. doi: https://doi.org/10.1007/s12687-017-0309-5
Mathijssen IB, van Maarle MC, Kleiss IIM, Redeker EJW, Ten Kate LP, Henneman L, Meijers-Heijboer H. With expanded carrier screening, founder populations run the risk of being overlooked. J Community Genet. 2017 Oct;8(4):327-333. doi: 10.1007/s12687-017-0309-5. Epub 2017 May 29. PMID: 28555434; PMCID: PMC5614881.
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Showing 1 to 12 of 12 entries