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Results: 17

1.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG.

Nat Genet. 2010 Jul;42(7):619-25. doi: 10.1038/ng.594. Epub 2010 May 30.

PMID:
20512146
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM.

Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239.

PMID:
20232449
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T.

Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116.

PMID:
19777577
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestilä M.

Hum Mutat. 2009 Aug;30(8):E813-30. doi: 10.1002/humu.21057.

PMID:
19466712
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M.

Am J Hum Genet. 2008 Jun;82(6):1361-7. doi: 10.1016/j.ajhg.2008.05.004.

PMID:
18513680
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H.

Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.

PMID:
18371931
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
17564974
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
17185389
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Clinical and genetic heterogeneity in Meckel syndrome.

Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L.

Hum Genet. 1997 Nov;101(1):88-92.

PMID:
9385376
[PubMed - indexed for MEDLINE]
17.

The Meckel syndrome: clinicopathological findings in 67 patients.

Salonen R.

Am J Med Genet. 1984 Aug;18(4):671-89.

PMID:
6486167
[PubMed - indexed for MEDLINE]

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