×
About 6 results

ALLMedicine™ Bardet-biedl Center

Research & Reviews  3 results

Autism: a rare presentation of Bardet-Biedl syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054480
BMJ Case Reports; Chatterjee SS, Guha P et. al.

Jun 5th, 2014 - Although mental retardation is generally associated with Bardet-Biedl (BBS) syndrome, a rare autosomal recessive disorder with multisystem involvement, autism is an unusual comorbidity. An 8-year-old boy presented to our psychiatry department with...

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bard...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765797
BMC Pediatrics; Farmer A, Aymé S et. al.

Aug 28th, 2013 - 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. There are as yet no specific treatme...

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndro...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728996
Proceedings of the National Academy of Sciences of the Un... de Pontual L, Zaghloul NA et. al.

Aug 11th, 2009 - Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in va...

see more →

Clinicaltrials.gov  3 results

Autism: a rare presentation of Bardet-Biedl syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4054480
BMJ Case Reports; Chatterjee SS, Guha P et. al.

Jun 5th, 2014 - Although mental retardation is generally associated with Bardet-Biedl (BBS) syndrome, a rare autosomal recessive disorder with multisystem involvement, autism is an unusual comorbidity. An 8-year-old boy presented to our psychiatry department with...

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bard...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765797
BMC Pediatrics; Farmer A, Aymé S et. al.

Aug 28th, 2013 - 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. There are as yet no specific treatme...

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndro...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728996
Proceedings of the National Academy of Sciences of the Un... de Pontual L, Zaghloul NA et. al.

Aug 11th, 2009 - Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in va...

see more →