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Items: 1 to 20 of 130

1.

Oro-dental findings in Bardet-Biedl syndrome.

Majumdar U, Arya G, Singh S, Pillai A, Nair PP.

BMJ Case Rep. 2012 Apr 23;2012. pii: bcr1220115320. doi: 10.1136/bcr.12.2011.5320.

2.

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA.

J Med Genet. 1999 Jun;36(6):437-46.

3.

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

Szmigielska A, Krzemień G, Roszkowska-Blaim M, Obersztyn E.

Dev Period Med. 2016 Apr-Jun;20(2):105-9.

4.

Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.

Andrade LJ, Andrade R, França CS, Bittencourt AV.

Arq Bras Oftalmol. 2009 Sep-Oct;72(5):694-6. Review.

5.

A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.

Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F.

Obes Rev. 2002 May;3(2):123-35. Review.

PMID:
12120419
6.

Bardet-Biedl syndrome.

Forsythe E, Beales PL.

Eur J Hum Genet. 2013 Jan;21(1):8-13. doi: 10.1038/ejhg.2012.115. Epub 2012 Jun 20.

7.

Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?

Toma HS, Tan PL, McKusick VA, Katsanis N, Adams NA.

Ophthalmic Genet. 2007 Jun;28(2):95-9.

PMID:
17558852
8.

A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.

Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K.

Brain Dev. 2014 Sep;36(8):721-4. doi: 10.1016/j.braindev.2013.10.013. Epub 2013 Nov 26.

PMID:
24290075
9.

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS.

J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26.

PMID:
19858128
10.

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.

Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C.

Ophthalmic Genet. 2016 Sep;37(3):290-3. doi: 10.3109/13816810.2015.1066830. Epub 2016 Feb 8.

PMID:
26854863
11.

[Bardet-Biedl syndrome].

Rooryck C, Lacombe D.

Ann Endocrinol (Paris). 2008 Dec;69(6):463-71. doi: 10.1016/j.ando.2008.10.001. Epub 2008 Nov 18. Review. French.

PMID:
19019343
12.

Bardet-Biedl syndrome a rare cause of cardiomyopathy.

Yadav DK, Beniwal MK, Jain A.

Indian Pediatr. 2013 Jun 8;50(6):599-601.

13.

Atypical association of Duane retraction syndrome and Bardet Biedl syndrome.

Jethani J, Parija S, Shetty S, Vijayalakshmi P.

Indian J Ophthalmol. 2007 Mar-Apr;55(2):139-41.

14.

[Clinical features of Bardet-Biedl syndrome with renal abnormalities as initial manifestations].

Wang H, Fu Q, Shen Y, Liu X, Zhou N, Liang Y, Yao Y.

Zhonghua Er Ke Za Zhi. 2014 Aug;52(8):611-5. Chinese.

PMID:
25224240
15.

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.

Putoux A, Attie-Bitach T, Martinovic J, Gubler MC.

Pediatr Nephrol. 2012 Jan;27(1):7-15. doi: 10.1007/s00467-010-1751-3. Epub 2011 Jan 19. Review.

PMID:
21246219
16.

Bardet-biedl syndrome and brain abnormalities.

Rooryck C, Pelras S, Chateil JF, Cances C, Arveiler B, Verloes A, Lacombe D, Goizet C.

Neuropediatrics. 2007 Feb;38(1):5-9.

PMID:
17607597
17.

Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings.

Aksoy A, Karagüzel G, Akbulut U, Türk A.

Turk J Pediatr. 2011 Jul-Aug;53(4):460-3.

PMID:
21980853
18.

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T.

Am J Hum Genet. 2005 Mar;76(3):493-504. Epub 2005 Jan 21.

19.

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS).

Keppler-Noreuil KM, Blumhorst C, Sapp JC, Brinckman D, Johnston J, Nopoulos PC, Biesecker LG.

BMC Med Genet. 2011 Jul 27;12:101. doi: 10.1186/1471-2350-12-101.

20.

Bardet-Biedl syndrome: a case report.

Karaman A.

Dermatol Online J. 2008 Jan 15;14(1):9.

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