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Items: 1 to 20 of 27

1.

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M.

Am J Hum Genet. 2008 Apr;82(4):1011-8. doi: 10.1016/j.ajhg.2008.01.021.

2.

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N.

Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Erratum in: Nat Genet. 2008 Jul;40(7):927. Al-Fadhel, Majid [corrected to Alfadhel, Majid].

PMID:
18327255
3.

The cell biological basis of ciliary disease.

Marshall WF.

J Cell Biol. 2008 Jan 14;180(1):17-21. doi: 10.1083/jcb.200710085. Epub 2008 Jan 7. Review.

4.

Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome.

Clotman F, Libbrecht L, Killingsworth MC, Loo CC, Roskams T, Lemaigre FP.

Liver Int. 2008 Mar;28(3):377-84. Epub 2007 Nov 1.

PMID:
17976156
5.

When cilia go bad: cilia defects and ciliopathies.

Fliegauf M, Benzing T, Omran H.

Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93. Review. Erratum in: Nat Rev Mol Cell Biol. 2008 Jan;9(1):88.

PMID:
17955020
6.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C.

Hum Mutat. 2008 Jan;29(1):45-52.

PMID:
17705300
7.

PLINK: a tool set for whole-genome association and population-based linkage analyses.

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC.

Am J Hum Genet. 2007 Sep;81(3):559-75. Epub 2007 Jul 25.

8.

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T.

Am J Hum Genet. 2007 Jul;81(1):170-9. Epub 2007 Jun 4.

9.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S.

Nat Genet. 2007 Jul;39(7):875-81. Epub 2007 Jun 10.

PMID:
17558409
10.

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C.

Hum Mutat. 2007 Jun;28(6):638-9.

PMID:
17437276
11.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie).

Hum Mutat. 2007 May;28(5):523-4.

PMID:
17397051
12.

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC.

Hum Genet. 2007 Jun;121(5):591-9. Epub 2007 Mar 22.

PMID:
17377820
13.

Bardet-Biedl syndrome: beyond the cilium.

Tobin JL, Beales PL.

Pediatr Nephrol. 2007 Jul;22(7):926-36. Epub 2007 Mar 15. Review.

PMID:
17357787
14.

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA.

Hum Mol Genet. 2007 Jan 15;16(2):173-86. Epub 2006 Dec 21.

15.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T.

Am J Hum Genet. 2007 Jan;80(1):186-94. Epub 2006 Nov 15.

16.

What is the function of centrioles?

Marshall WF.

J Cell Biochem. 2007 Mar 1;100(4):916-22. Review.

PMID:
17115414
17.

Ca2+ signaling and early embryonic patterning during the blastula and gastrula periods of zebrafish and Xenopus development.

Webb SE, Miller AL.

Biochim Biophys Acta. 2006 Nov;1763(11):1192-208. Epub 2006 Aug 5. Review.

18.

Meckel-Grüber syndrome: sonography and pathology.

Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler MC, Laquerrière A, Avni EF.

Ultrasound Obstet Gynecol. 2006 Mar;27(3):296-300.

19.

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH 2nd, Harris PC, Johnson CA.

Nat Genet. 2006 Feb;38(2):191-6. Epub 2006 Jan 15.

PMID:
16415887
20.

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M.

Nat Genet. 2006 Feb;38(2):155-7. Epub 2006 Jan 15.

PMID:
16415886
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