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1976 1
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1991 2
1992 1
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1997 4
1998 5
1999 2
2000 2
2001 3
2002 2
2003 3
2004 2
2005 5
2006 5
2007 2
2008 4
2009 2
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2015 3
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103 results

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Quoted phrase not found in phrase index: "Microcephaly-glomerulonephritis-marfanoid habitus syndrome"
Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit-hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously sugges …
RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, …
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Van Buggenhout G, Fryns JP. Van Buggenhout G, et al. Orphanet J Rare Dis. 2006 Jul 10;1:26. doi: 10.1186/1750-1172-1-26. Orphanet J Rare Dis. 2006. PMID: 16831221 Free PMC article. Review.
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is as …
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked …
Predictive Factors for Intraabdominal Hypertension after Incisional Hernia Repair.
Coţofană M, Muşat F, Păduraru DN, Andronic O, Bolocan A, Ion D. Coţofană M, et al. Chirurgia (Bucur). 2019 Jan-Feb;114(1):12-17. doi: 10.21614/chirurgia.114.1.12. Chirurgia (Bucur). 2019. PMID: 30830840 Free article. Review.
We used for our research the Web of Science, Scopus and PubMed research platforms and we used the following search formula: (Intra-abdominal hypertension OR intra-abdominal pressure OR abdominal compartment syndrome) AND risk factors AND incisional hernia. The results were …
We used for our research the Web of Science, Scopus and PubMed research platforms and we used the following search formula: (Intra-abdominal …
MR imaging of thoracic abnormalities in the fetus.
Recio Rodríguez M, Martínez de Vega V, Cano Alonso R, Carrascoso Arranz J, Martínez Ten P, Pérez Pedregosa J. Recio Rodríguez M, et al. Radiographics. 2012 Nov-Dec;32(7):E305-21. doi: 10.1148/rg.327125053. Radiographics. 2012. PMID: 23150864 Review.
MR imaging can demonstrate hernial contents and quantify lung volume better than US, allowing the prognosis to be determined and postpartum extracorporeal membrane oxygenation needs to be estimated. ...In summary, fetal MR imaging can provide additional data useful in esta …
MR imaging can demonstrate hernial contents and quantify lung volume better than US, allowing the prognosis to be determined and post …
An overview of diabetes mellitus in older persons.
Morley JE. Morley JE. Clin Geriatr Med. 1999 May;15(2):211-24. Clin Geriatr Med. 1999. PMID: 10339629 Review.
Diabetes mellitus is very common in older persons. Changes in exercise habits, body habitus, leptin, amylin, tumor necrosis factor alpha, and nitric oxide all play a role in the pathogenesis of age-related insulin resistance. ...In many nursing homes the quality of diabeti …
Diabetes mellitus is very common in older persons. Changes in exercise habits, body habitus, leptin, amylin, tumor necrosis factor al …
Stress cardiac magnetic resonance.
Nabi F, Malaty A, Shah DJ. Nabi F, et al. Curr Opin Cardiol. 2011 Sep;26(5):385-91. doi: 10.1097/HCO.0b013e3283490373. Curr Opin Cardiol. 2011. PMID: 21730829 Review.
SUMMARY: The purpose of this article is to review the current state of stress CMR for both detection of significant disease and the prognostication of future cardiac events. Clinical data will demonstrate that stress CMR is accurate, with detection in a broad population of …
SUMMARY: The purpose of this article is to review the current state of stress CMR for both detection of significant disease and the progn …
Nutritional issues in heart transplant candidates and recipients.
Amarelli C, Buonocore M, Romano G, Maiello C, De Santo LS. Amarelli C, et al. Front Biosci (Elite Ed). 2012 Jan 1;4(2):662-8. doi: 10.2741/407. Front Biosci (Elite Ed). 2012. PMID: 22201902 Free article. Review.
Recent studies have pointed out the role of nutritional issues in patients evaluated for heart transplant listing. In particular, extremes in body habitus, cachexia and obesity, have been characterized and identified as independent prognostic factors and clinically …
Recent studies have pointed out the role of nutritional issues in patients evaluated for heart transplant listing. In particular, extremes i …
Update on multiple endocrine neoplasia Type 1 and 2.
Al-Salameh A, Baudry C, Cohen R. Al-Salameh A, et al. Presse Med. 2018 Sep;47(9):722-731. doi: 10.1016/j.lpm.2018.03.005. Epub 2018 Jun 13. Presse Med. 2018. PMID: 29909163 Review.
Multiple endocrine neoplastic type 2 is a rare genetic syndrome, characterized by the familial occurrence of medullary thyroid carcinoma either isolated or associated with pheochromocytoma, primary hyperparathyroidism, or typical features (Marfanoid habitus, mucosal …
Multiple endocrine neoplastic type 2 is a rare genetic syndrome, characterized by the familial occurrence of medullary thyroid carcin …
MEN2B syndrome - paediatric case report.
Zendran I, Szlasa W, Bis G, Sondaj K, Barg E. Zendran I, et al. Pediatr Endocrinol Diabetes Metab. 2020;26(4):211-215. doi: 10.5114/pedm.2020.97462. Pediatr Endocrinol Diabetes Metab. 2020. PMID: 33191720 Free article. English.
Multiple endocrine neoplasia 2B (MEN 2B) is a rare syndrome caused by mutation of the RET proto-oncogene. Early-onset medullary thyroid carcinoma (MTC), marfanoid habitus, and mucosal neuromas occur in most cases, and some patients develop pheochromocytoma in later …
Multiple endocrine neoplasia 2B (MEN 2B) is a rare syndrome caused by mutation of the RET proto-oncogene. Early-onset medullary thyro …
Congenital contractural arachnodactyly (Beals syndrome).
Viljoen D. Viljoen D. J Med Genet. 1994 Aug;31(8):640-3. doi: 10.1136/jmg.31.8.640. J Med Genet. 1994. PMID: 7815423 Free PMC article. Review.
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild …
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome …
103 results