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5. Polydactyly in a carrier of the gene for the Meckel syndrome. Nelson J; Nevin NC; Hanna EJ Am J Med Genet; 1994 Nov; 53(3):207-9. PubMed ID: 7856653 [TBL] [Abstract][Full Text] [Related]
6. Dandy-Walker malformation in the Meckel syndrome. Summers MC; Donnenfeld AE Am J Med Genet; 1995 Jan; 55(1):57-61. PubMed ID: 7702098 [TBL] [Abstract][Full Text] [Related]
7. Meckel syndrome. Salonen R; Paavola P J Med Genet; 1998 Jun; 35(6):497-501. PubMed ID: 9643292 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17564974 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 11570001 [TBL] [Abstract][Full Text] [Related]
17. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Paavola P; Salonen R; Weissenbach J; Peltonen L Nat Genet; 1995 Oct; 11(2):213-5. PubMed ID: 7550354 [TBL] [Abstract][Full Text] [Related]
18. Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome. Wartiovaara K; Paavola P; Suvanto P; Paulin L; Saarma M; Peltonen L; Sariola H Clin Dysmorphol; 1997 Jul; 6(3):213-7. PubMed ID: 9220190 [TBL] [Abstract][Full Text] [Related]
19. The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17. Cierna Z; Janega P; Grochal F; Ferianec V; Braxatorisova T; Strieskova L; Malova J; Jungova P; Szemes T Pediatr Dev Pathol; 2017; 20(5):449-454. PubMed ID: 28812468 [TBL] [Abstract][Full Text] [Related]
20. A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. Zhang M; Cheng J; Liu A; Wang L; Xiong L; Chen M; Sun Y; Li J; Lu Y; Yuan H; Li Y; Lu Y Int J Clin Exp Pathol; 2015; 8(5):5379-86. PubMed ID: 26191240 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]