Results 101 to 110 of about 11,428 (200)

Human genetics and clinical aspects of neurodevelopmental disorders [PDF]

, 2015
This chapter traverses contemporary understandings of the genetic architecture of human disease, and explores the clinical implications of the current state of knowledge.
Abecasis, Abu-Safieh, Ackerman, Aldred, Aldridge, Allain, Allchin, Andreasen, Andreasen, Anney, Bainbridge, Bakker, Bakker, Ball, Bamshad, Barbosa, Bates, Bateson, Batista, Baugher, Beales, Bearn, Beaudet, Berg, Bernal, Berndt, Bianchi, Biesecker, Bittles, Bittles, Blackwood, Bleuler, Bloom, Blount, Boyden, Boyden, Brandt, Brawley, Burga, Cartault, Casanueva, Chaturvedi, Cheng, Chua, Ciancarelli, Comfort, Comfort, Corleto, Coufal, Coulter, Craddock, Crepel, Davis, Derikx, Dickel, Dodd, Dolinoy, Down, Eichenbaum, Eichers, El-Hattab, Elia, Emond, Esvelt, Etheridge, Evans, Fan, Fins, Francke, Frank, Freund, Fu, Fu, Fullston, Gagnon, Gai, Gibson, Gigerenzer, Gigerenzer, Gigerenzer, Girirajan, Girirajan, Goddard, Green, Green, Greenspan, Greenspan, Greenspan, Grillo, Guedj, Guris, Gymrek, Hall, Hamamy, Hamshere, Hansen, Hedges, Hollander, Holmes, Hosoki, Huisman, Hulten, Hume, Hunter, Iascone, Iossifov, Iourov, Jamieson, Jongmans, Jongmans, Jonsson, Kajiwara, Kapusta, Katsanis, Katsanis, Katsanis, Keller, Kendler, Khoddami, Kitzman, Klei, Kohane, Kovaleva, Kraepelin, Kurek, Kurz-Milcke, Lai, Laurier, Leconte, Ledford, Lemmers, Li, Liao, Lichtenstein, Lindhurst, Lindhurst, Lowrance, Lupski, Lupski, Luria, Luria, Lyon, Lyon, Lyon, Lyon, Lyon, Lyon, Lyon, Macosko, Maffei, Maffei, Maffei, Makary, Malhotra, Margari, Mari, Maxmen, McClaren, McClaren, McDonald-McGinn, McGuire, McGuire, McIntyre, Memczak, Mercer, Meyer, Meyer, Miles, Misteli, Mitchell, Mitchell, Miura, Mole, Moreau, Moreno-De-Luca, Moreno-De-Luca, Mukherjee, Mykytyn, Nakane, Neale, Ng, Ng, Nielsen, Nielsen, Ning, Novarino, O'Rawe, O'Roak, O'Roak, Olby, Opitz, Orr, Papageorgiou, Papavassiliou, Parodi, Pauli, Pennacchio, Penrose, Perrat, Peters, Philip, Provine, Radick, Radick, Rand, Ratiu, Refsgaard, Reiss, Rickards, Rickards, Risgaard, Roach, Rosendahl, Sabin, Sacks, Sacks, Salem, Salzman, Sanders, Sanders, Sastry, Sato, Sbidian, Schaaf, Schneider, Scriver, Seguin, Shaikh, Shanske, Shi, Shirley, Slavin, Smaoui, Sokal, Sokal, Sol-Church, Solomon, Sporn, Stalmans, Steinbusch, Sterckx, Styrkarsdottir, Tajir, Tanaka, Tennessen, Terwilliger, Tome, Trevisson, Van Horn, van Swinderen, Velleman, Venancio, Vig, Visscher, Visscher, Vogelstein, Waddington, Waddington, Wang, Ward, Weinhouse, Weiss, Weiss, Weldon, Williams, Williams, Williams, Wilusz, Worthey, Wu, Wuyts, Xu, Yamada, Zimmermann, Zuk, Zumbo   +275 more
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MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome [PDF]

, 2011
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Inusha Panigrahi, Ram Kumar Marwaha, Sheetal Sharda   +2 more
core   +1 more source

Diagnostic exome sequencing in 266 Dutch patients with visual impairment [PDF]

, 2017
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Boon, C.J.F. (Camiel), Born, L.I. (Ingeborgh) van den, Breuning, M.H. (Martijn), Castelein, S. (Steven), Cremers, F.P.M. (Frans), Haer-Wigman, L. (Lonneke), Hagen, J.M. (Johanna) van, Hehir-Kwa, J. (Jayne), Hoefsloot, E.H. (Lies), Hoyng, C.B. (Carel), Kievit, A.J.A. (Anneke J.A.), Klaver, C.C.W. (Caroline), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Lugtenberg, D. (Dorien), Nelen, M.R. (Marcel), Pfundt, R. (Rolph), Plomp, A. (Astrid), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Scheffer, H. (Hans), Verheij, J.B. (Joke), Verhoeven, V.J.M. (Virginie), Yntema, H.G., Zelst-Stams, W.A. van   +24 more
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Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations

Journal of the Pakistan Medical Association
Bardet-Biedl syndrome (BBS) is a disorder of primary ciliary dysfunction, having a wide range of systemic and dermatological manifestations. We report the case of a nine-year-old patient having multiple erythematous plaques over the dorsal surface of ...
Ghafoor Ullah, Sidra Shabbir, Hanniya Marwat, Fahad Faizullah, Maisan Qadir, Maryam Sardar   +5 more
doaj   +1 more source

A Phenotypic Analysis of Tetrahymena Centrin 2 [PDF]

, 2011
Basal bodies are microtubule organizing centers responsible for anchoring and organizing the cilium. Cilia are found on nearly every mammalian cell type and are important for various cellular functions including fluid movement and sensing the surrounding
Cookson, Michael Wesley
core   +2 more sources

Bardet−Biedl Syndrome [PDF]

, 2020
  +6 more sources

Bardet–Biedl syndrome: A case report

Annals of Medical Science and Research
Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal ...
Aakash Pandey, Prashasti Gupta, Priya Bansal, Ramesh Aggarwal, Motilal Negi   +4 more
doaj   +1 more source

A rare case of obesity. Can it be Bardet‐Biedl Syndrome?

Clinical Case Reports, 2019
Bardet‐Biedl Syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations like retinal dystrophy, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction.
Sandeep Shrestha, Nagendra Chaudhary
doaj   +1 more source

A genome-wide association study using a DNA pooling strategy identifies BBS9 and GLIS3 as novel loci influencing patient’s outcome after stroke [PDF]

, 2011
Stroke is a major cause of morbidity in developed countries and therefore finding adequate treatments to promote patient’s recovery is a priority task, requiring the elucidation of the molecular pathways influencing brain recovery.
Albergaria, I., Ferro, J.M., Gaspar, G., Krug, T., Manso, H., Oliveira, S.A., Paulos-Pinheiro, S., Sobral, J., Vicente, A.M.   +8 more
core  

A Case Report of Bardet Biedl Syndrome in a Patient from Pakistan who Presented with Osmotic Symptoms associated with Diabetes Mellitus

International Journal of Medical Students
Background: The primary features of Bardet Biedl syndrome (BBS) are characterized by retinal degeneration, central obesity, post-axial polydactyly, intellectual impairment, hypogonadism, and renal anomalies.
Bakht Babar, Muqsit Ali Shaukat, Misbah Manzoor, Samina Bibi, Hashim Khan   +4 more
doaj   +1 more source