Results 111 to 120 of about 2,862 (212)

A Rare Case of Alstrom Syndrome With Liver Involvement In Young Female - A Great Masquerader Of Autoimmune Hepatitis [PDF]

, 2023
K. R. Akshatha, Anurag Shetty, Suresh Shenoy, Sandeep Gopal, Bailuru Vishwanath Tantry   +4 more
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Finding Rare, Disease-Associated Variants in Isolated Groups: Potential Advantages of Mennonite Populations [PDF]

, 2017
Large-scale genotyping and next-generation sequencing techniques have allowed great advances in the field of molecular genetics. Numerous common variants of low impact have been associated with many complex human traits and diseases, such as bipolar ...
Alves, Veronica M., Boldt, Angelica B. W., Hou, Liping, Kassem, Layla, Lopes, Fabiana L., McMahon, Francis J, Nardi, Antonio E.   +6 more
core   +1 more source

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels. [PDF]

, 2016
Leptin is an adipocyte-secreted hormone, the circulating levels of which correlate closely with overall adiposity. Although rare mutations in the leptin (LEP) gene are well known to cause leptin deficiency and severe obesity, no common loci regulating ...
Ahluwalia, T.S., Allison, M.A., Amin, N., Amuzu, A., Astrup, A., Bandinelli, S., Barroso, I., Beekman, M., Bellis, C., Bergmann, S., Blangero, J., Borecki, I.B., Bouchard, C., Brent Richards, J., Buckley, B.M., Böhringer, S., Carli, J.F., Casas, J.P., Chasman, D.I., Crosslin, D.R., Dale, C.E., Dastani, Z., Day, F.R., de Craen, A.J., Deelen, J., Del Greco M, F., Delgado, G.E., Demirkan, A., Drong, A.W., Eline Slagboom, P., Eriksson, J., Eriksson, J.G., Feitosa, M.F., Ferrucci, L., Finucane, F.M., Ford, I., Franks, P.W., Frayling, T.M., Garcia, M.E., Gaunt, T., Gieger, C., Grallert, H., Grarup, N., Guo, X., Gustafsson, S., Hallmans, G., Hankinson, S.E., Hansen, T., Harris, T.B., Havulinna, A.S., Hayes, J.E., Hedman, Å.K., Heliövaara, M., Henneman, P., Herder, C., Hernandez, D., Hicks, A.A., Hofman, A., Hu, F.B., Hunter, D.J., Huupponen, R.K., I Chen, Y.D., Illig, T., Ingelsson, E., Ioan-Facsinay, A., Isaacs, A., Jansson, J.O., Jenny, N.S., Jousilahti, P., Ju Sung, Y., Jukema, J.W., Jula, A., Jørgensen, M.E., Jørgensen, T., Kajantie, E., Karlsson, M., Kilpeläinen, T.O., Kleber, M.E., Klein, R.J., Kloppenburg, M., Knekt, P.B., Koenig, W., Koskinen, S., Kraft, P., Kriebel, J., Kristiansson, K., Kutalik, Z., Kwekkeboom, J., Kähönen, M., Laatikainen, T., Ladwig, K.H., Lahti, J., Langenberg, C., LeDuc, C.A., Lehtimäki, T., Leibel, R.L., Lind, L., Lindgren, C.M., Liu, Y., Loos, R.J., Lorentzon, M., Lowe, G., Lu, Y., Luan, J., Lyytikäinen, L.P., Mahajan, A., Mangino, M., Marques-Vidal, P., Meisinger, C., Mellström, D., Menni, C., Meulenbelt, I., Morris, A.P., Myers, R.H., Männistö, S., März, W., Nalls, M.A., Ohlsson, C., Osmond, C., Palotie, A., Pasko, D., Paternoster, L., Pedersen, O., Perola, M., Pers, T.H., Peters, A., Pradhan, A.D., Pramstaller, P.P., Pérusse, L., Raitakari, O.T., Ramos, Y.F., Rankinen, T., Rao, D.C., Rasmussen-Torvik, L.J., Rathmann, W., Renström, F., Rice, T.K., Ridker, P.M., Rivadeneira, F., Rose, L.M., Sarzynski, M.A., Sattar, N., Savage, D.B., Schadt, E.E., Schick, U., Scott, R.A., Skowronski, A.A., Spector, T.D., Sun, Q., Söderberg, S., Sørensen, T.I., Tanaka, T., Timpson, N.J., Trompet, S., Uh, H.W., Uitterlinden, A.G., van Dijk, K.W., van Duijn, C.M., van Heemst, D., Vandenput, L., Vartiainen, E., Vestergaard, H., Viikari, J.S., Vohl, M.C., Vollenweider, P., Waeber, G., Walker, M., Wareham, N.J., Waterworth, D.M., Wichmann, H.E., Widén, E., Willems, S.M., Wood, A.R., Yao, J., Zeller, T., Zhang, Y., Zhao, J.   +176 more
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ALSTROM HALLGREN SYNDROME WITH CLASSICAL FINDINGS: A RARE CASE REPORT OF MONOGENIC CILIOPATHY CO-OCCURRENCE IN TWINS. [PDF]

, 2023
Sagun Ghimire, Suman Simkhada, Samir Thapa, Kiran Ghising   +3 more
openalex   +1 more source

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Journal of Medical Case Reports, 2011
Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age ...
Marshall Jan D, Mihai Cristina M, Stoicescu Ramona M   +2 more
doaj   +1 more source

Nephronophthisis [PDF]

, 2008
Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form).
A Aguilera, A Moudgil, AC Løken, AI den Hollander, B Georges, B Senior, B Utsch, C Antignac, C Bergmann, C Costet, C Lagier-Tourenne, C Smith, C Stavrou, CL Witzleben, D Morgan, DE Potter, DL Blowey, EA Otto, EA Otto, EA Otto, EA Otto, EM Valente, F Hildebrandt, F Hildebrandt, F Hildebrandt, F Hildebrandt, F Mainzer, G Bollee, G Caridi, G Caridi, G Fanconi, G Mollet, G Mollet, H Boichis, H Olbrich, H Omran, HH Arts, HU Zollinger, I Perrault, J Helou, J Hoefele, J Hoefele, J Nurnberger, J Nurnberger, J Vierkotten, JA Sayer, JC Donaldson, JD Marshall, JD Marshall, JL Tobin, K Pistor, K Tory, L Baala, L Baala, L Eley, L Romio, M Attanasio, M Delous, M Fliegauf, M Konrad, M Rocco Di, M Tsimaratos, MA Parisi, MD Donaldson, MF Gagnadoux, MT Wolf, Patrick Niaudet, R Betz, R Gusmano, R Roepman, R Waldherr, Rémi Salomon, S Liu, S Saunier, S Saunier, S Saunier, SM Nauli, Sophie Saunier, T Dixon-Salazar, T Matsuzaka, V Delaney, VH Gattone 2nd, X Liu   +82 more
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Obesidad en la infancia y en la adolescencia [PDF]

, 2011
La obesidad se considera en la actualidad un problema de salud pública mundial debido al constante aumento de su prevalencia asociado a los cambios en los estilos de vida de la población, que incluyen la inactividad física y el incremento en el ...
Hidalgo Vicario, M. I., Muñoz Calvo, María Teresa   +1 more
core   +1 more source

Diffuse myocardial fibrosis in Alstrom syndrome: an early marker of disease progression [PDF]

, 2013
Nicola C. Edwards, William E. Moody, Emma Springthorpe, Peter Weale, Richard Paisey, Una Martin, Tarekegn Geberhiwot, Richard P. Steeds   +7 more
openalex   +1 more source

A Bayesian method for finding interactions in genomic studies [PDF]

, 2004
An important step in building a multiple regression model is the selection of predictors. In genomic and epidemiologic studies, datasets with a small sample size and a large number of predictors are common.
Chen, Wei, Ghosh, Debashis, Kardia, Sharon, Raghuanthan, Trivellore E.   +3 more
core   +1 more source

RAB-Like 2 Has an Essential Role in Male Fertility, Sperm Intra-Flagellar Transport, and Tail Assembly

, 2015
A significant percentage of young men are infertile and, for the majority, the underlying cause remains unknown. Male infertility is, however, frequently associated with defective sperm motility, wherein the sperm tail is a modified flagella/cilia ...
Adams, Vicki, Aitken, R. John, Borg, Claire, Clark, Brett J, Field, Mark C, Goodnow, Christopher C, Ishikawa, Tomomoto, Jamsai, Duangporn, Lo, Jennifer C. Y, O'Bryan, Moira K, O'Connor, Anne E, Ormandy, Christopher J, Whisstock, James C, Whittle, Belinda   +13 more
core   +1 more source