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Items: 1 to 20 of 342

1.

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
2.

The importance of renal impairment in the natural history of Bardet-Biedl syndrome.

O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J.

Am J Kidney Dis. 1996 Jun;27(6):776-83.

PMID:
8651240
3.

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.

4.

[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus].

Iannello S, Fagone S, Grasso G, Ierna D, Meli S, Pennisi P, Perrotta C, Zingali C, Belfiore F.

Minerva Endocrinol. 1998 Sep;23(3):83-92. Italian.

PMID:
10063326
5.

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.

Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC.

Hum Mol Genet. 2005 May 1;14(9):1109-18. Epub 2005 Mar 16.

PMID:
15772095
6.

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.

7.

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
8.

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W.

N Engl J Med. 1989 Oct 12;321(15):1002-9.

PMID:
2779627
9.

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.

10.

Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

Ghadami M, Tomita HA, Najafi MT, Damavandi E, Farahvash MS, Yamada K, Majidzadeh-A K, Niikawa N.

Am J Med Genet. 2000 Oct 23;94(5):433-7.

PMID:
11050632
11.

Bardet-Biedl syndrome with syndrome X: a patient report.

Keskin M, Atabek ME, Kurtoğlu S.

J Pediatr Endocrinol Metab. 2004 Jun;17(6):913-5.

PMID:
15270411
12.

Bardet-Biedl syndrome.

Hrynchak PK.

Optom Vis Sci. 2000 May;77(5):236-43.

PMID:
10831213
13.

Mutations in MKKS cause Bardet-Biedl syndrome.

Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG.

Nat Genet. 2000 Sep;26(1):15-6. Erratum in: Nat Genet 2001 Jun;28(2):193.

PMID:
10973238
14.

Clinical aspects of renal involvement in Bardet-Biedl syndrome.

Anadoliiska A, Roussinov D.

Int Urol Nephrol. 1993;25(5):509-14.

PMID:
8270381
15.

Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs.

Croft JB, Swift M.

Am J Med Genet. 1990 May;36(1):37-42.

PMID:
2333905
16.

Bardet-Biedl syndrome.

Keith CG.

Aust J Ophthalmol. 1984 May;12(2):143-8.

PMID:
6487184
17.

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
18.

[Functional visual explorations of Bardet-Biedl syndrome. A study of three cases].

Ingster-Moati I, Rigaudiere F, Choltus-De Petigny MC, Bremond-Gignac D, Lestrade C, Grall Y.

J Fr Ophtalmol. 2000 Oct;23(8):802-8. French.

19.

Bardet-Biedl syndrome: a case report.

Karaman A.

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

20.

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

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