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Items: 1 to 20 of 51

1.

Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.

Barbelanne M, Hossain D, Chan DP, Peränen J, Tsang WY.

Hum Mol Genet. 2015 Apr 15;24(8):2185-200. doi: 10.1093/hmg/ddu738. Epub 2014 Dec 30.

2.

Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome.

Tsai HF, Wu MH, Cheng YC, Chang CH, Chang FM.

Taiwan J Obstet Gynecol. 2014 Jun;53(2):241-4. doi: 10.1016/j.tjog.2012.07.042.

3.

McKusick Kaufman syndrome, complications arising at puberty.

Lueth ET, Wood KE.

J Pediatr Adolesc Gynecol. 2014 Dec;27(6):e125-6. doi: 10.1016/j.jpag.2013.10.002. Epub 2014 Mar 19.

PMID:
24656697
4.

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E.

Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22.

PMID:
21344540
5.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H.

Eur J Med Genet. 2011 Mar-Apr;54(2):157-60. doi: 10.1016/j.ejmg.2010.10.004. Epub 2010 Oct 29.

PMID:
21044901
6.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E.

J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14.

PMID:
20472660
7.

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K.

Hum Mutat. 2010 Apr;31(4):429-36. doi: 10.1002/humu.21204.

PMID:
20120035
8.

McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder.

Slavin TP, McCandless SE, Lazebnik N.

J Clin Ultrasound. 2010 Mar-Apr;38(3):151-5. doi: 10.1002/jcu.20663.

PMID:
20091696
9.

Role of MRI in fetal abdominal cystic masses detected on prenatal sonography.

Gupta P, Sharma R, Kumar S, Gadodia A, Roy KK, Malhotra N, Sharma JB.

Arch Gynecol Obstet. 2010 Mar;281(3):519-26. doi: 10.1007/s00404-009-1190-1. Epub 2009 Aug 12.

PMID:
19672611
10.

Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.

Kos S, Roth K, Korinth D, Zeilinger G, Eich G.

Pediatr Radiol. 2008 Aug;38(8):902-6. doi: 10.1007/s00247-008-0870-5. Epub 2008 May 14.

PMID:
18478223
11.

MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito D, Okawa K, Kimura H, Cyr DM, Kubota H, Nagata K.

Mol Biol Cell. 2008 Mar;19(3):899-911. Epub 2007 Dec 19.

12.

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H.

Am J Hum Genet. 2007 Jan;80(1):1-11. Epub 2006 Nov 15.

13.

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR.

Hum Genet. 2006 Sep;120(2):211-26. Epub 2006 Jun 23.

PMID:
16794820
14.

Congenital imperforate hymen and its life-threatening consequences in the neonatal period.

El-Messidi A, Fleming NA.

J Pediatr Adolesc Gynecol. 2006 Apr;19(2):99-103.

PMID:
16624697
15.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H.

Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2. Erratum in: Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo [corrected to Silva, Eduardo D].

PMID:
16582908
16.

Genitourinary malformations as a feature of the Pallister-Hall syndrome.

McCann E, Fryer AE, Craigie R, Baillie C, Ba'ath ME, Selby A, Biesecker LG.

Clin Dysmorphol. 2006 Apr;15(2):75-9.

PMID:
16531732
17.

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.

Nakane T, Biesecker LG.

Am J Med Genet A. 2005 Sep 15;138(1):32-4.

PMID:
16104012
18.

Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis.

Behera M, Couchman G, Walmer D, Price TM.

Obstet Gynecol Surv. 2005 Jul;60(7):453-61. Review.

PMID:
15995562
19.

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
20.

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H.

Eur J Hum Genet. 2005 May;13(5):607-16.

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