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Results: 1 to 20 of 126

1.

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS.

Hum Mutat. 2011 Jun;32(6):573-8. doi: 10.1002/humu.21507. Epub 2011 May 5.

PMID:
21462283
[PubMed - indexed for MEDLINE]
2.

Mutations in TMEM231 cause Meckel-Gruber syndrome.

Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS.

J Med Genet. 2013 Mar;50(3):160-2. doi: 10.1136/jmedgenet-2012-101431. Epub 2013 Jan 24.

PMID:
23349226
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA.

Hum Mol Genet. 2013 Apr 1;22(7):1358-72. doi: 10.1093/hmg/dds546. Epub 2013 Jan 2.

PMID:
23283079
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S, Harris PC.

Hum Mol Genet. 2011 Jul 1;20(13):2524-34. doi: 10.1093/hmg/ddr151. Epub 2011 Apr 14.

PMID:
21493627
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS.

Eur J Hum Genet. 2013 Jul;21(7):762-8. doi: 10.1038/ejhg.2012.254. Epub 2012 Nov 21.

PMID:
23169490
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
7.

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.

Wheway G, Abdelhamed Z, Natarajan S, Toomes C, Inglehearn C, Johnson CA.

Dev Biol. 2013 May 1;377(1):55-66. doi: 10.1016/j.ydbio.2013.02.015. Epub 2013 Feb 27.

PMID:
23454480
[PubMed - indexed for MEDLINE]
Free Article
8.

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]
9.

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK.

Cell. 2011 May 13;145(4):513-28. doi: 10.1016/j.cell.2011.04.019.

PMID:
21565611
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attié-Bitach T, Johnson CA, García-Verdugo JM, Katsanis N, Bergmann C, Reiter JF.

Am J Hum Genet. 2011 Jul 15;89(1):94-110. doi: 10.1016/j.ajhg.2011.06.003. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589. Zaghloul, Norran A [corrected to Zaghloul, Norann A].

PMID:
21763481
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Meckel syndrome: genetics, perinatal findings, and differential diagnosis.

Chen CP.

Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. Review.

PMID:
17389183
[PubMed - indexed for MEDLINE]
12.

Genetic heterogeneity of Meckel syndrome.

Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A.

J Med Genet. 1997 Dec;34(12):1003-6.

PMID:
9429143
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR.

J Cell Biol. 2011 Mar 21;192(6):1023-41. doi: 10.1083/jcb.201012116.

PMID:
21422230
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Meckel syndrome with Caroli disease and choledochal cysts.

Venkatachala S, Sivaraman A.

Fetal Pediatr Pathol. 2011;30(5):350-4. doi: 10.3109/15513815.2011.587499. Epub 2011 Aug 15.

PMID:
21843058
[PubMed - indexed for MEDLINE]
15.

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]
16.

Clinical utility gene card for: Meckel syndrome.

Salonen R, Kestilä M, Bergmann C.

Eur J Hum Genet. 2011 Jul;19(7). doi: 10.1038/ejhg.2010.255. Epub 2011 Feb 2. No abstract available.

PMID:
21368913
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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]
18.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.

Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6.

PMID:
23386033
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Meckel Gruber syndrome: occurrence in non-consanguineous marriages.

de Silva MV, Senanayake H, Siriwardana KD.

Ceylon Med J. 2004 Mar;49(1):30-1.

PMID:
15255329
[PubMed - indexed for MEDLINE]
20.

Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects.

de Silva D, Suriyawansa D, Mangalika M, Samarasinghe D.

Ceylon Med J. 2001 Mar;46(1):30.

PMID:
11570001
[PubMed - indexed for MEDLINE]

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