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Quoted phrase not found in phrase index: "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"
Page 1
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. ...Very high incidences of additional disease phenotypes that may severely affect prognosis and survival i …
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently u …
Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report.
Gersak K, Strgulc M, Gorjup V, Dolenc-Strazar Z, Jurcic V, Penny DJ, Fan Y. Gersak K, et al. Mol Med Rep. 2013 Nov;8(5):1311-4. doi: 10.3892/mmr.2013.1669. Epub 2013 Sep 5. Mol Med Rep. 2013. PMID: 24008991
In the present study, we report on the sporadic case of a young female with dilated cardiomyopathy, hypergonadotropic hypogonadism, a small chin, bilateral blepharoptosis, marfanoid elongated fingers and hypothyroidism. Malouf syndrome may be caused by hetero …
In the present study, we report on the sporadic case of a young female with dilated cardiomyopathy, hypergonadotropic hypogonadism …
Erectile dysfunction is not a mirror of endothelial dysfunction in HIV-infected patients.
Guaraldi G, Beggi M, Zona S, Luzi K, Orlando G, Carli F, Ligabue G, Rochira V, Rossi R, Modena MG, Bouloux P. Guaraldi G, et al. J Sex Med. 2012 Apr;9(4):1114-21. doi: 10.1111/j.1743-6109.2011.02243.x. Epub 2011 Apr 7. J Sex Med. 2012. PMID: 21477014
MAIN OUTCOME MEASURES: The International Index of Erectile Function, ultrasound assessment of brachial artery flow mediated dilatation (FMD), and multi-slice computed tomography for coronary artery calcifications (CAC) as surrogates of endothelial dysfunction, the Adult Tr …
MAIN OUTCOME MEASURES: The International Index of Erectile Function, ultrasound assessment of brachial artery flow mediated dilatation …
Familial variable expression of dilated cardiomyopathy in Alstrom syndrome: a report of four sibs.
Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Hoffman JD, et al. Am J Med Genet A. 2005 May 15;135(1):96-8. doi: 10.1002/ajmg.a.30688. Am J Med Genet A. 2005. PMID: 15809999
Alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing loss, morbid obesity, male hypogonadism, insulin resistant diabetes, renal failure, and …
Alstrom syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary reti …
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E. Graul-Neumann LM, et al. Am J Med Genet A. 2010 Nov;152A(11):2749-55. doi: 10.1002/ajmg.a.33690. Am J Med Genet A. 2010. PMID: 20979188
We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of …
We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndro …
Acute cerebellar hemorrhage in a patient with Klinefelter syndrome: XXY karyotype obtained postmortem from cells from pericardial fluid.
Kominato Y, Fujikura T, Matsui K, Hata N, Takizawa H. Kominato Y, et al. J Forensic Sci. 2000 Sep;45(5):1148-50. J Forensic Sci. 2000. PMID: 11005194
A case of Klinefelter syndrome and a spontaneous cerebellar hemorrhage in a 12-year-old boy is presented. Autopsy revealed that the hemorrhage was due to the rupture of a dilated artery in an arteriovenous malformation in the right cerebellar hemisphere. ...
A case of Klinefelter syndrome and a spontaneous cerebellar hemorrhage in a 12-year-old boy is presented. Autopsy revealed that the h …