Results 31 to 40 of about 11,428 (200)

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

Orphanet Journal of Rare Diseases, 2023
Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet–Biedl syndrome,
Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq   +11 more
doaj   +1 more source

A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome

Case Reports in Ophthalmology, 2015
Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration.
Cynthia S. Chiu, Dimosthenis Mantopoulos, Simmons Lessell, Dean M. Cestari   +3 more
doaj   +1 more source

Prenatal diagnosis of Bardet Biedl Syndrome: A case report

Radiology Case Reports, 2023
The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood.
Ena Arora, MD, Aleksandr Fuks, MD, Jessica Meyer, MD, Judith Chervenak, MD   +3 more
doaj   +1 more source

Bardet-Biedl syndrome.

Mymensingh medical journal : MMJ, 2009
A young boy of 9 years hailing from Fulpur, Mymensingh was admitted in the department of Ophthalmology, Mymensingh Medical College Hospital, Mymensingh, Bangladesh on the 26th November, 2007 with the complaints of dimness of vision of both the eyes and night blindness since birth.
M, Habibullah, A A, Mohiuddin
  +6 more sources

Report of four cases of Bardet-Biedl syndrome

Brazilian Journal of Nephrology, 2014
Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center.
Paulo Roberto Santos, Diego Levi Silveira Monteiro, Paulo Henrique Alexandre de Paula, Vicente Lopes Monte Neto   +3 more
doaj   +1 more source

Crystal structure of the small GTPase Arl6/BBS3 from Trypanosoma brucei [PDF]

, 2012
Arl6/BBS3 is a small GTPase, mutations in which are implicated in the human ciliopathy Bardet–Biedl Syndrome (BBS). Arl6 is proposed to facilitate the recruitment of a large protein complex known as the BBSome to the base of the primary cilium, mediating
Antonny, Ashkenazy, Beck, Beck, Berbari, Bhamidipati, Bond, Branche, Broadhead, Cevik, Chakrabarti, Chiang, Cook, Cowtan, Daumke, Davis, Der, Di Tommaso, Domire, Dundas, Eisenhaber, Emsley, Engstler, Fan, Fliegauf, Forsythe, Gasper, Ginger, Hill, Iqbal, Jin, Kabsch, Keegan, Kobayashi, Krissinel, Krissinel, Loktev, Lu, Maurer-Stroh, McNicholas, Murshudov, Nachury, Nakae, Ou, Panjkovich, Price, Ralston, Rodnina, Scrima, Simarro, Vetter, Vickerman, Vickerman, Vogel, Wei, Wiens, Winn, Wittinghofer, Zhang   +58 more
core   +1 more source

The molecular basis of human retinal and vitreoretinal diseases [PDF]

, 2010
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W, Kloeckener-Gruissem, B, Neidhardt, J   +2 more
core   +1 more source

Bardet–Biedl Syndrome

Community Based Medical Journal, 2014
Bardet–Biedl syndrome (BBS) is characterized by polysyndactyly, mild to moderate psychomotor delay, mild to moderate intellectual disability, retinopathy developing during childhood, abnormalities of the renal system, hypogonadism, and obesity. Polysyndactyly is an almost consistent finding, with a frequency of 93–98 %.
Stefan Mundlos, Denise Horn
  +5 more sources

Bardet-Biedl Syndrome Late Diagnosis with a Great Disability: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2018
The Bardet-Biedl Syndrome (BSS) is a genetic disease based on autosomal recessive disorder characterised by non-allelic heterogeneity. The prevalence in the European population is only 1 in 160,000 live births. We observed a case of late diagnosis in a
Oriana Amata, Enrica Scalisi, Alessandro Conti, Giuseppe Umana, Matteo Cioni   +4 more
doaj   +1 more source

Bardet Biedl syndrome – report of a very rare case

National Journal of Clinical Anatomy, 2016
Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti, Daksha Dixit, Harshavardhan Pati   +2 more
doaj   +1 more source