PubMed (OMIM) for id: 811346

Year	Number of Results
1966	1
1967	2
1970	1
1971	2
1972	1
1973	1
1975	1
1976	1
1977	1
1978	3
1979	2
1980	3
1981	3
1983	1
1984	5
1985	2
1986	1
1989	1
1990	2
1991	3
1992	1
1993	2
1994	2
1995	2
1996	1
1997	2
1999	1
2005	1
2006	1
2024	0

1

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. Kyttälä M, et al. Nat Genet. 2006 Feb;38(2):155-7. doi: 10.1038/ng1714. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415886

2

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. Karmous-Benailly H, et al. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.

3

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

Paavola P, Avela K, Horelli-Kuitunen N, Bärlund M, Kallioniemi A, Idänheimo N, Kyttälä M, de la Chapelle A, Palotie A, Lehesjoki AE, Peltonen L. Paavola P, et al. Genome Res. 1999 Mar;9(3):267-76. Genome Res. 1999. PMID: 10077533 Free PMC article.

4

Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?

Gulati R, Phadke SR, Agarwal SS. Gulati R, et al. J Med Genet. 1997 Nov;34(11):937-8. doi: 10.1136/jmg.34.11.937. J Med Genet. 1997. PMID: 9391891 Free PMC article.

5

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. Paavola P, et al. Hum Genet. 1997 Nov;101(1):88-92. doi: 10.1007/s004390050592. Hum Genet. 1997. PMID: 9385376

6

Meckel syndrome and Dandy Walker malformation.

Al-Gazali LI, Abdel Raziq A, Al-Shather W, Shahzadi R, Azhar N. Al-Gazali LI, et al. Clin Dysmorphol. 1996 Jan;5(1):73-6. doi: 10.1097/00019605-199601000-00011. Clin Dysmorphol. 1996. PMID: 8867663

7

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

Genuardi M, Dionisi-Vici C, Sabetta G, Mignozzi M, Rizzoni G, Cotugno G, Martini Neri ME. Genuardi M, et al. Am J Med Genet. 1993 Aug 1;47(1):50-3. doi: 10.1002/ajmg.1320470111. Am J Med Genet. 1993. PMID: 8368252

8

On Saraiva and Baraitser and Joubert syndrome: a review.

Di Rocco M. Di Rocco M. Am J Med Genet. 1993 Jul 1;46(6):732-3. doi: 10.1002/ajmg.1320460630. Am J Med Genet. 1993. PMID: 8362922 No abstract available.

9

Meckel syndrome: what are the minimum diagnostic criteria?

Wright C, Healicon R, English C, Burn J. Wright C, et al. J Med Genet. 1994 Jun;31(6):482-5. doi: 10.1136/jmg.31.6.482. J Med Genet. 1994. PMID: 8071976 Free PMC article.

10

Polydactyly in a carrier of the gene for the Meckel syndrome.

Nelson J, Nevin NC, Hanna EJ. Nelson J, et al. Am J Med Genet. 1994 Nov 15;53(3):207-9. doi: 10.1002/ajmg.1320530302. Am J Med Genet. 1994. PMID: 7856653 Review.

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