Results 101 to 110 of about 7,409 (168)

Prikaz slučaja djevojčice s Laurence-Moon-Bardet-Biedl sindromom

, 2017
Bardet-Biedl syndrome shows significant overlap with a disorder called Laurence-Moon syndrome. Laurence-Moon syndrome (LMS) is characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe disability ...
Matijević, Valentina, Valentina Matijević, Josipa Marić Sabadoš, Jasmin Nikšić, Nikšić, Jasmin, Marić Sabadoš, Josipa   +5 more
core   +1 more source

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome. [PDF]

Clin Case Rep
Ahsan MU, Shaheen S, Ahmed S.
europepmc   +1 more source

Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease. [PDF]

Front Cell Dev Biol
Azab B, Aburizeg D, Al-Slaimieh A, Naser Aldeen R, Hyasat A, Alrefae A, Albooz R, AlAref A, Alrefae AMK, Obeidat M, Hadidy A, Abu-Ameerh M, Al-Bdour M, Maswadi R, Al-Nawaiseh I.   +14 more
europepmc   +1 more source

Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome. [PDF]

JCEM Case Rep
Dauleh H, Mohammed I, Hussain K.
europepmc   +1 more source

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient. [PDF]

Cureus
M R R, B S S, M M, T P S.
europepmc   +1 more source

Bardet–Biedl syndrome: expect the unexpected, suspect the unsuspected

, 2018
This is the first reported description of Bardet–Biedl syndrome (BBS) with the combination of a malacic bifid epiglottis and anterior laryngeal web. Anaesthesia for BBS has numerous concerns and these are reviewed, focusing on features that manifest not ...
Cronjé, Larissa
core   +1 more source

Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort. [PDF]

Obesity (Silver Spring)
Argente J, Haqq AM, Schorfheide JL, Touchot N, Huber C, Wiedemann U, Pomeroy J, Phase 3 BBS Trial Investigators.   +7 more
europepmc   +1 more source

Sindroma Laurence-Moon-Bardet-Biedl

, 1985
: A 10-year old Javanese boy suffering from Laurence-Moon-Bardet-Biedl Syndrome characterized by retinitis pigmentosa, myopia, polydactily, obesity, hypogenitalism and mental retardation has been reported.
Ahmad Yusuf Aliridha, Hartono , Gunawan
core   +1 more source

Congenital melanocytic nevi in Bardet-Biedl syndrome. [PDF]

Orphanet J Rare Dis
Shelton K, Dang P, McCorkle C, Mallipaddi P, Hollman N, Pomeroy J, Richards J.   +6 more
europepmc   +1 more source