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Showing 1 to 12 of 448 entries
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Fragile X syndrome as a rare disease in China - Therapeutic challenges and opportunities.

Intractable & rare diseases research

Jin X, Chen L.
PMID: 25674387
Intractable Rare Dis Res. 2015 Feb;4(1):39-48. doi: 10.5582/irdr.2014.01037.

Recognized as the most common inherited from of intellectual disability (ID) and the most common known monogenic cause of autism spectrum disorders (ASD), Fragile X syndrome (FXS) is identified as an unmet medical need for the development of personalized...

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Jin X, Chen L. Fragile X syndrome as a rare disease in China - Therapeutic challenges and opportunities. Intractable Rare Dis Res. 2015;4(1):39-48doi: 10.5582/irdr.2014.01037.
Jin, X., & Chen, L. (2015). Fragile X syndrome as a rare disease in China - Therapeutic challenges and opportunities. Intractable & rare diseases research, 4(1), 39-48. https://doi.org/10.5582/irdr.2014.01037
Jin, Xiaowei, and Chen, Li. "Fragile X syndrome as a rare disease in China - Therapeutic challenges and opportunities." Intractable & rare diseases research vol. 4,1 (2015): 39-48. doi: https://doi.org/10.5582/irdr.2014.01037
Jin X, Chen L. Fragile X syndrome as a rare disease in China - Therapeutic challenges and opportunities. Intractable Rare Dis Res. 2015 Feb;4(1):39-48. doi: 10.5582/irdr.2014.01037. PMID: 25674387; PMCID: PMC4322594.
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Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family.

Intractable & rare diseases research

Shi X, Lu Y, Wang Y, Zhang YA, Teng Y, Han W, Han Z, Li T, Chen M, Liu J, Fang F, Dou C, Ren X, Han J.
PMID: 25674388
Intractable Rare Dis Res. 2015 Feb;4(1):49-53. doi: 10.5582/irdr.2014.01039.

Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder with a broad clinical heterozygosis, which can be complicated by other connective tissue disorders like Ehlers-Danlos syndrome (EDS). OI/EDS are rarely documented. Most OI/EDS mutations are located in the N-anchor...

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Shi X, Lu Y, Wang Y, et al. Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family. Intractable Rare Dis Res. 2015;4(1):49-53doi: 10.5582/irdr.2014.01039.
Shi, X., Lu, Y., Wang, Y., Zhang, Y. A., Teng, Y., Han, W., Han, Z., Li, T., Chen, M., Liu, J., Fang, F., Dou, C., Ren, X., & Han, J. (2015). Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family. Intractable & rare diseases research, 4(1), 49-53. https://doi.org/10.5582/irdr.2014.01039
Shi, Xianlong, et al. "Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family." Intractable & rare diseases research vol. 4,1 (2015): 49-53. doi: https://doi.org/10.5582/irdr.2014.01039
Shi X, Lu Y, Wang Y, Zhang YA, Teng Y, Han W, Han Z, Li T, Chen M, Liu J, Fang F, Dou C, Ren X, Han J. Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family. Intractable Rare Dis Res. 2015 Feb;4(1):49-53. doi: 10.5582/irdr.2014.01039. PMID: 25674388; PMCID: PMC4322595.
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Inflammatory pseudotumor of the liver: A case report and literature review.

Intractable & rare diseases research

Zhang Y, Lu H, Ji H, Li Y.
PMID: 26361568
Intractable Rare Dis Res. 2015 Aug;4(3):155-8. doi: 10.5582/irdr.2015.01021.

Reported here is the case of a 55-year-old man who had tarry stools for 3 days before he was seen at this Department. The man had weight loss and an intermittent fever for 3 months prior. Histopathology revealed an...

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Zhang Y, Lu H, Ji H, et al. Inflammatory pseudotumor of the liver: A case report and literature review. Intractable Rare Dis Res. 2015;4(3):155-8doi: 10.5582/irdr.2015.01021.
Zhang, Y., Lu, H., Ji, H., & Li, Y. (2015). Inflammatory pseudotumor of the liver: A case report and literature review. Intractable & rare diseases research, 4(3), 155-8. https://doi.org/10.5582/irdr.2015.01021
Zhang, Yafei, et al. "Inflammatory pseudotumor of the liver: A case report and literature review." Intractable & rare diseases research vol. 4,3 (2015): 155-8. doi: https://doi.org/10.5582/irdr.2015.01021
Zhang Y, Lu H, Ji H, Li Y. Inflammatory pseudotumor of the liver: A case report and literature review. Intractable Rare Dis Res. 2015 Aug;4(3):155-8. doi: 10.5582/irdr.2015.01021. PMID: 26361568; PMCID: PMC4561246.
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The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges.

Intractable & rare diseases research

Benusiglio PR.
PMID: 26361570
Intractable Rare Dis Res. 2015 Aug;4(3):162-3. doi: 10.5582/irdr.2015.01017.

Birt-Hogg-Dubé is a rare syndrome in which carriers of germline mutations in the FLCN tumor suppressor gene are at risk of renal cell carcinoma of all histologies, most often of the chromophobe or hybrid chromophobe-oncocytoma type. Non-oncological manifestations such...

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Benusiglio PR. The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges. Intractable Rare Dis Res. 2015;4(3):162-3doi: 10.5582/irdr.2015.01017.
Benusiglio, P. R. (2015). The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges. Intractable & rare diseases research, 4(3), 162-3. https://doi.org/10.5582/irdr.2015.01017
Benusiglio, Patrick R. "The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges." Intractable & rare diseases research vol. 4,3 (2015): 162-3. doi: https://doi.org/10.5582/irdr.2015.01017
Benusiglio PR. The Birt-Hogg-Dubé cancer predisposition syndrome: Current challenges. Intractable Rare Dis Res. 2015 Aug;4(3):162-3. doi: 10.5582/irdr.2015.01017. PMID: 26361570; PMCID: PMC4561248.
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Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

Intractable & rare diseases research

Fabre A, Bourgeois P, Coste ME, Roman C, Barlogis V, Badens C.
PMID: 28944135
Intractable Rare Dis Res. 2017 Aug;6(3):152-157. doi: 10.5582/irdr.2017.01040.

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial...

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Fabre A, Bourgeois P, Coste ME, et al. Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. Intractable Rare Dis Res. 2017;6(3):152-157doi: 10.5582/irdr.2017.01040.
Fabre, A., Bourgeois, P., Coste, M. E., Roman, C., Barlogis, V., & Badens, C. (2017). Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. Intractable & rare diseases research, 6(3), 152-157. https://doi.org/10.5582/irdr.2017.01040
Fabre, Alexandre, et al. "Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature." Intractable & rare diseases research vol. 6,3 (2017): 152-157. doi: https://doi.org/10.5582/irdr.2017.01040
Fabre A, Bourgeois P, Coste ME, Roman C, Barlogis V, Badens C. Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. Intractable Rare Dis Res. 2017 Aug;6(3):152-157. doi: 10.5582/irdr.2017.01040. PMID: 28944135; PMCID: PMC5608923.
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Rare case of ameloblastoma with pulmonary metastases.

Intractable & rare diseases research

Valkadinov I, Conev N, Dzhenkov D, Donev I.
PMID: 28944145
Intractable Rare Dis Res. 2017 Aug;6(3):211-214. doi: 10.5582/irdr.2017.01032.

Ameloblastoma is a rare low-grade odontogenic tumor of epithelial origin. The World Health Organization (WHO) has defined malignant ameloblastoma (MA) as a histologically benign-appearing ameloblastoma that has metastasized. Treatment of the primary ameloblastoma usually consists of radical excision of...

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Valkadinov I, Conev N, Dzhenkov D, et al. Rare case of ameloblastoma with pulmonary metastases. Intractable Rare Dis Res. 2017;6(3):211-214doi: 10.5582/irdr.2017.01032.
Valkadinov, I., Conev, N., Dzhenkov, D., & Donev, I. (2017). Rare case of ameloblastoma with pulmonary metastases. Intractable & rare diseases research, 6(3), 211-214. https://doi.org/10.5582/irdr.2017.01032
Valkadinov, Ivan, et al. "Rare case of ameloblastoma with pulmonary metastases." Intractable & rare diseases research vol. 6,3 (2017): 211-214. doi: https://doi.org/10.5582/irdr.2017.01032
Valkadinov I, Conev N, Dzhenkov D, Donev I. Rare case of ameloblastoma with pulmonary metastases. Intractable Rare Dis Res. 2017 Aug;6(3):211-214. doi: 10.5582/irdr.2017.01032. PMID: 28944145; PMCID: PMC5608933.
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Sigmoid volvulus in young patients: Ą new twist on an old diagnosis.

Intractable & rare diseases research

Sarfaraz M, Hasan SR, Lateef S.
PMID: 28944147
Intractable Rare Dis Res. 2017 Aug;6(3):219-223. doi: 10.5582/irdr.2017.01033.

According to the literature, sigmoid volvulus typically develops in patients of an older age with co-morbidities such as a psychiatric illness or a bed-bound chronic illness. Recent reports suggest that it should also be considered in young individuals without...

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Sarfaraz M, Hasan SR, Lateef S. Sigmoid volvulus in young patients: Ą new twist on an old diagnosis. Intractable Rare Dis Res. 2017;6(3):219-223doi: 10.5582/irdr.2017.01033.
Sarfaraz, M., Hasan, S. R., & Lateef, S. (2017). Sigmoid volvulus in young patients: Ą new twist on an old diagnosis. Intractable & rare diseases research, 6(3), 219-223. https://doi.org/10.5582/irdr.2017.01033
Sarfaraz, Moaziz, et al. "Sigmoid volvulus in young patients: Ą new twist on an old diagnosis." Intractable & rare diseases research vol. 6,3 (2017): 219-223. doi: https://doi.org/10.5582/irdr.2017.01033
Sarfaraz M, Hasan SR, Lateef S. Sigmoid volvulus in young patients: Ą new twist on an old diagnosis. Intractable Rare Dis Res. 2017 Aug;6(3):219-223. doi: 10.5582/irdr.2017.01033. PMID: 28944147; PMCID: PMC5608935.
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Fragile X syndrome: A review of clinical management.

Intractable & rare diseases research

Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ.
PMID: 27672537
Intractable Rare Dis Res. 2016 Aug;5(3):145-57. doi: 10.5582/irdr.2016.01048.

The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5' untranslated promoter. The full mutation is the almost always the cause of...

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Lozano R, Azarang A, Wilaisakditipakorn T, et al. Fragile X syndrome: A review of clinical management. Intractable Rare Dis Res. 2016;5(3):145-57doi: 10.5582/irdr.2016.01048.
Lozano, R., Azarang, A., Wilaisakditipakorn, T., & Hagerman, R. J. (2016). Fragile X syndrome: A review of clinical management. Intractable & rare diseases research, 5(3), 145-57. https://doi.org/10.5582/irdr.2016.01048
Lozano, Reymundo, et al. "Fragile X syndrome: A review of clinical management." Intractable & rare diseases research vol. 5,3 (2016): 145-57. doi: https://doi.org/10.5582/irdr.2016.01048
Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ. Fragile X syndrome: A review of clinical management. Intractable Rare Dis Res. 2016 Aug;5(3):145-57. doi: 10.5582/irdr.2016.01048. PMID: 27672537; PMCID: PMC4995426.
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Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases.

Intractable & rare diseases research

Shi L, Cui Y, Luan J, Zhou X, Han J.
PMID: 27672542
Intractable Rare Dis Res. 2016 Aug;5(3):192-201. doi: 10.5582/irdr.2016.01062.

Rare diseases with a low prevalence are a key public health issue because the causes of those diseases are difficult to determine and those diseases lack a clearly established or curative treatment. Thus, investigating the molecular mechanisms that underlie...

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Shi L, Cui Y, Luan J, et al. Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases. Intractable Rare Dis Res. 2016;5(3):192-201doi: 10.5582/irdr.2016.01062.
Shi, L., Cui, Y., Luan, J., Zhou, X., & Han, J. (2016). Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases. Intractable & rare diseases research, 5(3), 192-201. https://doi.org/10.5582/irdr.2016.01062
Shi, Liang, et al. "Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases." Intractable & rare diseases research vol. 5,3 (2016): 192-201. doi: https://doi.org/10.5582/irdr.2016.01062
Shi L, Cui Y, Luan J, Zhou X, Han J. Urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases. Intractable Rare Dis Res. 2016 Aug;5(3):192-201. doi: 10.5582/irdr.2016.01062. PMID: 27672542; PMCID: PMC4995418.
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Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

Intractable & rare diseases research

Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T.
PMID: 27672545
Intractable Rare Dis Res. 2016 Aug;5(3):214-7. doi: 10.5582/irdr.2016.01051.

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by impaired thyroid hormone transporter. Patients with AHDS usually exhibit severe motor developmental delay, delayed myelination of the brain white matter, and elevated T3 levels in thyroid tests. Neurological examination of...

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Shimojima K, Maruyama K, Kikuchi M, et al. Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable Rare Dis Res. 2016;5(3):214-7doi: 10.5582/irdr.2016.01051.
Shimojima, K., Maruyama, K., Kikuchi, M., Imai, A., Inoue, K., & Yamamoto, T. (2016). Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable & rare diseases research, 5(3), 214-7. https://doi.org/10.5582/irdr.2016.01051
Shimojima, Keiko, et al. "Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome." Intractable & rare diseases research vol. 5,3 (2016): 214-7. doi: https://doi.org/10.5582/irdr.2016.01051
Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T. Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. Intractable Rare Dis Res. 2016 Aug;5(3):214-7. doi: 10.5582/irdr.2016.01051. PMID: 27672545; PMCID: PMC4995413.
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Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY.

Intractable & rare diseases research

Palkar P, Kabasakalian A, Taylor B, Doernberg E, Ferretti CJ, Uzunova G, Hollander E.
PMID: 27672550
Intractable Rare Dis Res. 2016 Aug;5(3):235-7. doi: 10.5582/irdr.2016.01043.

We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the...

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Palkar P, Kabasakalian A, Taylor B, et al. Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY. Intractable Rare Dis Res. 2016;5(3):235-7doi: 10.5582/irdr.2016.01043.
Palkar, P., Kabasakalian, A., Taylor, B., Doernberg, E., Ferretti, C. J., Uzunova, G., & Hollander, E. (2016). Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY. Intractable & rare diseases research, 5(3), 235-7. https://doi.org/10.5582/irdr.2016.01043
Palkar, Pooja, et al. "Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY." Intractable & rare diseases research vol. 5,3 (2016): 235-7. doi: https://doi.org/10.5582/irdr.2016.01043
Palkar P, Kabasakalian A, Taylor B, Doernberg E, Ferretti CJ, Uzunova G, Hollander E. Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY. Intractable Rare Dis Res. 2016 Aug;5(3):235-7. doi: 10.5582/irdr.2016.01043. PMID: 27672550; PMCID: PMC4995422.
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Multiplex cytokine analysis of Werner syndrome.

Intractable & rare diseases research

Goto M, Hayata K, Chiba J, Matsuura M, Iwaki-Egawa S, Watanabe Y.
PMID: 26668779
Intractable Rare Dis Res. 2015 Nov;4(4):190-7. doi: 10.5582/irdr.2015.01035.

We reported a minor inflammation-driven ageing (inflammageing) assessed by highly sensitive CRP (hsCRP) in normal individuals and patients with Werner syndrome (WS), followed by an ageing associated Th2-biased cytokine change in normal ageing in the previous papers. To further...

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Goto M, Hayata K, Chiba J, et al. Multiplex cytokine analysis of Werner syndrome. Intractable Rare Dis Res. 2015;4(4):190-7doi: 10.5582/irdr.2015.01035.
Goto, M., Hayata, K., Chiba, J., Matsuura, M., Iwaki-Egawa, S., & Watanabe, Y. (2015). Multiplex cytokine analysis of Werner syndrome. Intractable & rare diseases research, 4(4), 190-7. https://doi.org/10.5582/irdr.2015.01035
Goto, Makoto, et al. "Multiplex cytokine analysis of Werner syndrome." Intractable & rare diseases research vol. 4,4 (2015): 190-7. doi: https://doi.org/10.5582/irdr.2015.01035
Goto M, Hayata K, Chiba J, Matsuura M, Iwaki-Egawa S, Watanabe Y. Multiplex cytokine analysis of Werner syndrome. Intractable Rare Dis Res. 2015 Nov;4(4):190-7. doi: 10.5582/irdr.2015.01035. PMID: 26668779; PMCID: PMC4660860.
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Showing 1 to 12 of 448 entries