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Pitt-Hopkins Syndrome.

Molecular syndromology

Peippo M, Ignatius J.
PMID: 22670138
Mol Syndromol. 2012 Apr;2(3):171-180. doi: 10.1159/000335287. Epub 2011 Dec 29.

Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to epilepsy, panting-and-holding breathing anomaly, stereotypic movements, constipation, and high myopia. Growth is normal or only mildly retarded, but half of the patients...

Cite
Peippo M, Ignatius J. Pitt-Hopkins Syndrome. Mol Syndromol. 2011;2(3):171-180doi: 10.1159/000335287.
Peippo, M., & Ignatius, J. (2012). Pitt-Hopkins Syndrome. Molecular syndromology, 2(3), 171-180. https://doi.org/10.1159/000335287
Peippo, M, and Ignatius, J. "Pitt-Hopkins Syndrome." Molecular syndromology vol. 2,3 (2012): 171-180. doi: https://doi.org/10.1159/000335287
Peippo M, Ignatius J. Pitt-Hopkins Syndrome. Mol Syndromol. 2012 Apr;2(3):171-180. doi: 10.1159/000335287. Epub 2011 Dec 29. PMID: 22670138; PMCID: PMC3366706.
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New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.

Circulation

Aguib Y, Allouba M, Walsh R, Ibrahim AM, Halawa S, Afify A, Hosny M, Theotokis PI, Galal A, Elshorbagy S, Roshdy M, Kassem HS, Ellithy A, Buchan R, Whiffin N, Anwer S, Cook SA, Moustafa A, ElGuindy A, Ware JS, Barton PJR, Yacoub M.
PMID: 34460321
Circulation. 2021 Aug 31;144(9):754-757. doi: 10.1161/CIRCULATIONAHA.120.048295. Epub 2021 Aug 30.

No abstract available.

Cite
Aguib Y, Allouba M, Walsh R, et al. New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy. Circulation. 2021;144(9):754-757doi: 10.1161/CIRCULATIONAHA.120.048295.
Aguib, Y., Allouba, M., Walsh, R., Ibrahim, A. M., Halawa, S., Afify, A., Hosny, M., Theotokis, P. I., Galal, A., Elshorbagy, S., Roshdy, M., Kassem, H. S., Ellithy, A., Buchan, R., Whiffin, N., Anwer, S., Cook, S. A., Moustafa, A., ElGuindy, A., Ware, J. S., Barton, P. J. R., & Yacoub, M. (2021). New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy. Circulation, 144(9), 754-757. https://doi.org/10.1161/CIRCULATIONAHA.120.048295
Aguib, Yasmine, et al. "New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy." Circulation vol. 144,9 (2021): 754-757. doi: https://doi.org/10.1161/CIRCULATIONAHA.120.048295
Aguib Y, Allouba M, Walsh R, Ibrahim AM, Halawa S, Afify A, Hosny M, Theotokis PI, Galal A, Elshorbagy S, Roshdy M, Kassem HS, Ellithy A, Buchan R, Whiffin N, Anwer S, Cook SA, Moustafa A, ElGuindy A, Ware JS, Barton PJR, Yacoub M. New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy. Circulation. 2021 Aug 31;144(9):754-757. doi: 10.1161/CIRCULATIONAHA.120.048295. Epub 2021 Aug 30. PMID: 34460321; PMCID: PMC8389346.
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A Novel Mutation of .

Oman medical journal

Alafifi T, Bakhsh ARA, Elbashari M, Abouelnaga MEH, Eldimllawi AM.
PMID: 32647592
Oman Med J. 2020 Jun 30;35(3):e140. doi: 10.5001/omj.2020.58. eCollection 2020 May.

Between 3-5% of all patients with Parkinson's disease (PD) have onset before the age of 40 years, which is likely related to genetic causes. Parkin gene mutations are the most common mutations, which are associated with autosomal recessive early-onset...

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Alafifi T, Bakhsh ARA, Elbashari M, et al. A Novel Mutation of . Oman Med J. 2020;35(3):e140doi: 10.5001/omj.2020.58.
Alafifi, T., Bakhsh, A. R. A., Elbashari, M., Abouelnaga, M. E. H., & Eldimllawi, A. M. (2020). A Novel Mutation of . Oman medical journal, 35(3), e140. https://doi.org/10.5001/omj.2020.58
Alafifi, Tariq, et al. "A Novel Mutation of ." Oman medical journal vol. 35,3 (2020): e140. doi: https://doi.org/10.5001/omj.2020.58
Alafifi T, Bakhsh ARA, Elbashari M, Abouelnaga MEH, Eldimllawi AM. A Novel Mutation of . Oman Med J. 2020 Jun 30;35(3):e140. doi: 10.5001/omj.2020.58. eCollection 2020 May. PMID: 32647592; PMCID: PMC7335453.
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New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.

Circulation

Aguib Y, Allouba M, Walsh R, Ibrahim AM, Halawa S, Afify A, Hosny M, Theotokis PI, Galal A, Elshorbagy S, Roshdy M, Kassem HS, Ellithy A, Buchan R, Whiffin N, Anwer S, Cook SA, Moustafa A, ElGuindy A, Ware JS, Barton PJR, Yacoub M.
PMID: 34460321
Circulation. 2021 Aug 31;144(9):754-757. doi: 10.1161/CIRCULATIONAHA.120.048295. Epub 2021 Aug 30.

No abstract available.

Cite
Aguib Y, Allouba M, Walsh R, et al. New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy. Circulation. 2021;144(9):754-757doi: 10.1161/CIRCULATIONAHA.120.048295.
Aguib, Y., Allouba, M., Walsh, R., Ibrahim, A. M., Halawa, S., Afify, A., Hosny, M., Theotokis, P. I., Galal, A., Elshorbagy, S., Roshdy, M., Kassem, H. S., Ellithy, A., Buchan, R., Whiffin, N., Anwer, S., Cook, S. A., Moustafa, A., ElGuindy, A., Ware, J. S., Barton, P. J. R., & Yacoub, M. (2021). New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy. Circulation, 144(9), 754-757. https://doi.org/10.1161/CIRCULATIONAHA.120.048295
Aguib, Yasmine, et al. "New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy." Circulation vol. 144,9 (2021): 754-757. doi: https://doi.org/10.1161/CIRCULATIONAHA.120.048295
Aguib Y, Allouba M, Walsh R, Ibrahim AM, Halawa S, Afify A, Hosny M, Theotokis PI, Galal A, Elshorbagy S, Roshdy M, Kassem HS, Ellithy A, Buchan R, Whiffin N, Anwer S, Cook SA, Moustafa A, ElGuindy A, Ware JS, Barton PJR, Yacoub M. New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy. Circulation. 2021 Aug 31;144(9):754-757. doi: 10.1161/CIRCULATIONAHA.120.048295. Epub 2021 Aug 30. PMID: 34460321; PMCID: PMC8389346.
Copy Download .nbib Format: NLM
Showing 1 to 4 of 4 entries