Results 21 to 30 of about 11,428 (200)

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source

Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey

Orphanet Journal of Rare Diseases, 2023
Background Signs and symptoms of Bardet–Biedl syndrome (BBS) occur during early childhood, progress over time, and place substantial, multifaceted burden on patients and their caregivers. Hyperphagia may be a contributing factor to early-onset obesity in
Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq   +8 more
doaj   +1 more source

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

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome [PDF]

, 2016
Background: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion.
Aymé, Ségolène, Barrett, Timothy G., Farmer, Amy, López de Heredia, Miguel, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes Martínez, Virginia, Paquis-Flucklinger, Véronique, Parkinson, Kay, Rohayem, Julia, Sinnott, Richard, Tillmann, Vallo, Tranebjærg, Lisbeth   +13 more
core   +1 more source

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

Bardet–Biedl syndrome with choledochal cyst: Rare association with a novel variant

Journal of Indian Association of Pediatric Surgeons, 2023
Bardet–Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders.
Saket Kumar, A G Harisankar, Nidhi Singh, Singh Rakesh Kumar, Nilay Mayank   +4 more
doaj   +1 more source

Hedgehog Pathway Activation Alters Ciliary Signaling in Primary Hypothalamic Cultures [PDF]

, 2019
Primary cilia dysfunction has been associated with hyperphagia and obesity in both ciliopathy patients and mouse models of cilia perturbation. Neurons throughout the brain possess these solitary cellular appendages, including in the feeding centers of ...
Antonellis, Patrick J., Bansal, Ruchi, Baucum, Anthony J., Berbari, Nicolas F., Cummins, Theodore R., Engle, Staci E., Reiter, Jeremy F., Whitehouse, Logan S.   +7 more
core   +1 more source

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +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

Functional modelling of a novel mutation in BBS5. [PDF]

, 2014
BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties ...
Al-Fadhly, F., Al-Hamed, M.H., Chrystal, P., El Sayed, R., Eley, L., Hynes, A.M., Meyer, B., Sayer, J.A., Simms, R.J., van Lennep, C.   +9 more
core   +2 more sources