Results 11 to 20 of about 6,126 (165)

Recurrent pericarditis in a patient with Bardet–Biedl syndrome: A case report

Frontiers in Pediatrics, 2022
Bardet–Biedl syndrome is a rare autosomal recessive disorder characterized by rod-cone dystrophy, renal dysfunction, obesity, learning difficulties, hypogonadism, polydactyl, and many other minor features that can affect the cardiovascular, locomotive ...
Angela Mauro, Francesca Casini, Emanuele Chittano Congedo, Sara L’assainato, Francesca Pinto, Valentina Ansuini, Ruggiero Mascolo, Alice Pedroli, Luca Bernardo   +8 more
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Bardet–Biedl syndrome: a case series

Journal of Medical Case Reports, 2022
Background Bardet–Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod–cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity,
Omer Ali Mohamed Ahmed Elawad, Mumen Abdalazim Dafallah, Mohammed Mahgoub Mirghani Ahmed, Ahmed Abdalazim Dafallah Albashir, Sahar Mohammed Abbas Abdalla, Habiballa Hago Mohamed Yousif, Anwar Ali Elamin Daw Elbait, Moawia Elbalal Mohammed, Hassan Ismail Hassan Ali, Mohamed Mutasim Mohamed Ahmed, Najla Fouad Nassir Mohammed, Fadwa Hashim Mohamed Osman, Mussab Alnazeer Yousif Mohammed, Ejlal Ahmed Ebrahim Abu Shama   +13 more
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A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis.
Prasanth Y.M., Mohammed Ashraf, Venkatesh B.M., Sharol Menezes, Abraham Mohan   +4 more
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Bardet–Biedl syndrome presenting in adulthood

Indian Journal of Nephrology, 2022
Bardet-Biedl syndrome (BBS) is a rare disorder with a frequency of 1:1,60,000. The disease is inherited in an autosomal recessive manner. Less than 15 cases have been reported from India. We present a case of Bardet-Biedl syndrome presenting to the medical emergency with acute breathlessness because of de-compensated renal failure and salient features ...
Ankleshwaria, Chinmay, Prajapati, Bhavik, Parmar, Sarita, Rathod, Vraj, Patel, Harsh, Dhorajiya, Dixit, Chavda, Nirav, Parmar, Kapil, Pathan, Faiz, Chauhan, Minakshi   +9 more
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In search of triallelism in Bardet–Biedl syndrome [PDF]

European Journal of Human Genetics, 2012
Bardet-Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable genetic heterogeneity that characterizes this disease is consistent with accumulating data on the interaction between the proteins encoded by the 14 BBS genes identified to date.
Abu-Safieh, L., Al-Anazi, S., Al-Abdi, L., Hashem, M., Alkuraya, H., Alamr, M., Sirelkhatim, M.O., Al-Hassnan, Z., Alkuraya, B., Mohamed, J.Y., Al-Salem, A., Alrashed, M., Faqeih, E., Softah, A., Al-Hashem, A., Wali, S., Rahbeeni, Z., Alsayed, M., Khan, A.O., Al-Gazali, L., Taschner, P.E.M., Al-Hazzaa, S., Alkuraya, F.S.   +22 more
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Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]

Diabetes & Metabolism Journal, 2015
BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
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Bardet–Biedl Syndrome

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2021
The Bardet–Biedl syndrome is a rare autosomal recessive disease of the group of ciliopathies with polymorphic clinical symptomsincluding the retinal degeneration, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The Pleiotropic effects are caused by the defects in genes encoding the proteins responsible for the functioning
E. A. Potrokhova, M. L. Babayan, L. S. Baleva, M. P. Safonova, A. E. Sipyagina   +4 more
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Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

Nature Communications, 2022
Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Here they identify a role for Bbs1 in lipid homeostasis of photoreceptor outer segments in zebrafish, which may contribute to ...
Markus Masek, Christelle Etard, Claudia Hofmann, Andreas J. Hülsmeier, Jingjing Zang, Masanari Takamiya, Matthias Gesemann, Stephan C. F. Neuhauss, Thorsten Hornemann, Uwe Strähle, Ruxandra Bachmann-Gagescu   +10 more
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Bardet Biedl Syndrome

Journal of Institute of Medicine Nepal, 2008
Bardet Biedl syndrome is a rare autosomal recessive condition characterized by central obesity, retinitis pigmentosa and postaxial polydactyly.
S. Basnet, A.K. Sharma
openaire   +2 more sources

Laurence-Moon-Bardet-Biedl Syndrome

Journal of Nepal Medical Association, 2008
Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression.
JK Sahu, Vandana Jain
doaj   +1 more source