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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 22"
Page 1
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Nawaz H, Mujahid, Khan SA, Bibi F, Waqas A, Bari A, Fardous, Khan N, Muhammad N, Khan A, Paracha SA, Alam Q, Kamal MA, Rafeeq MM, Muhammad N, Haq FU, Khan S, Mahmood A, Khan S, Umair M. Nawaz H, et al. Genes (Basel). 2023 May 19;14(5):1113. doi: 10.3390/genes14051113. Genes (Basel). 2023. PMID: 37239474 Free PMC article.
Bardet-Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. ...
Bardet-Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disor …
Renal features of Bardet Biedl syndrome: A single center experience.
Atmış B, Karabay-Bayazıt A, Melek E, Bişgin A, Anarat A. Atmış B, et al. Turk J Pediatr. 2019;61(2):186-192. doi: 10.24953/turkjped.2019.02.006. Turk J Pediatr. 2019. PMID: 31951329 Free article.
Atmis B, Karabay-Bayazit A, Melek E, Bisgin A, Anarat A. Renal features of Bardet Biedl syndrome: A single center experience. Turk J Pediatr 2019; 61: 186-192. Bardet Biedl syndrome (BBS), is a multisystemic disorder which is described as …
Atmis B, Karabay-Bayazit A, Melek E, Bisgin A, Anarat A. Renal features of Bardet Biedl syndrome: A single center exper …
Renal transplantation in Bardet-Biedl Syndrome.
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA. Haws RM, et al. Pediatr Nephrol. 2016 Nov;31(11):2153-61. doi: 10.1007/s00467-016-3415-4. Epub 2016 Jun 1. Pediatr Nephrol. 2016. PMID: 27245600
BACKGROUND: Renal anomalies are common in patients with Bardet-Biedl syndrome (BBS), a renal cystic ciliopathy with multi-systemic features. ...Although the frequency of obesity and other manifestations of the metabolic syndrome warrant meticulous mana …
BACKGROUND: Renal anomalies are common in patients with Bardet-Biedl syndrome (BBS), a renal cystic ciliopathy with mul …
Cystic kidney disease: a primer.
Cramer MT, Guay-Woodford LM. Cramer MT, et al. Adv Chronic Kidney Dis. 2015 Jul;22(4):297-305. doi: 10.1053/j.ackd.2015.04.001. Adv Chronic Kidney Dis. 2015. PMID: 26088074 Review.
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndro …
RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, …
Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II.
Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S. Parameswarappa DC, et al. Indian J Ophthalmol. 2022 Jul;70(7):2533-2538. doi: 10.4103/ijo.IJO_2268_21. Indian J Ophthalmol. 2022. PMID: 35791150 Free PMC article.
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence-Moon-Bardet-Biedl (LMBB) syndrome patients. METHODS: This is a cross-sectional observational hospital-based study wherein 244 patients with RP …
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence-Moon-Bardet-B …
Alstrom syndrome. Report of 22 cases and literature review.
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Russell-Eggitt IM, et al. Ophthalmology. 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. Ophthalmology. 1998. PMID: 9663233 Review.
The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. Their aim is to clarify the AS phenotype and to increase awareness of the early features. ...Initially, a diagnosis of cone-rod dystrophy, achr …
The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. The …
Novel homozygous nonsense mutation associated with Bardet-Biedl syndrome in fetuses with congenital renal malformation.
Cai M, Lin M, Lin N, Xu L, Huang H. Cai M, et al. Medicine (Baltimore). 2022 Aug 12;101(32):e30003. doi: 10.1097/MD.0000000000030003. Medicine (Baltimore). 2022. PMID: 35960079 Free PMC article.
BACKGROUND: The Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by clinical and genetic heterogeneity. ...However, WES revealed a homozygous mutation of c.1177C>T (p.Arg393*) on exon 12 of BBS1 and a heterozygous variation …
BACKGROUND: The Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by clinical and genet …
Oral and dental findings in Bardet-Biedl syndrome: A case report.
Yalcin ED, Ararat E. Yalcin ED, et al. Niger J Clin Pract. 2019 Jul;22(7):1026-1028. doi: 10.4103/njcp.njcp_615_18. Niger J Clin Pract. 2019. PMID: 31293272
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. This syndrome is associated with 19 genes present, and 80% of the cases are determined as a clinical diagnosis result. ...
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. This syndrome is associated with 19 …
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R. Zhu T, et al. Am J Ophthalmol. 2023 Apr;248:96-106. doi: 10.1016/j.ajo.2022.11.023. Epub 2022 Dec 7. Am J Ophthalmol. 2023. PMID: 36493848
The SCP phenotypes included Joubert syndrome (JS) (23/24) and Bardet-Biedl syndrome (BBS) (1/24). We detected 73 different CEP290 variants, of which 33 (45.2%) were not previously reported. ...CONCLUSIONS: LCA was the most common retinal dystrophy phen …
The SCP phenotypes included Joubert syndrome (JS) (23/24) and Bardet-Biedl syndrome (BBS) (1/24). We detected 73 …
32 results