120 related articles for article (PubMed ID: 9385376)
1. 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. PubMed ID: 9385376
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 9429143
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A gene for Meckel syndrome maps to chromosome 11q13.
Roume J; Genin E; Cormier-Daire V; Ma HW; Mehaye B; Attie T; Razavi-Encha F; Fallet-Bianco C; Buenerd A; Clerget-Darpoux F; Munnich A; Le Merrer M
Am J Hum Genet; 1998 Oct; 63(4):1095-101. PubMed ID: 9758620
[TBL] [Abstract][Full Text] [Related]
5. Meckel syndrome.
Salonen R; Paavola P
J Med Genet; 1998 Jun; 35(6):497-501. PubMed ID: 9643292
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 17437276
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 18513680
[TBL] [Abstract][Full Text] [Related]
8. A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Morgan NV; Gissen P; Sharif SM; Baumber L; Sutherland J; Kelly DA; Aminu K; Bennett CP; Woods CG; Mueller RF; Trembath RC; Maher ER; Johnson CA
Hum Genet; 2002 Oct; 111(4-5):456-61. PubMed ID: 12384791
[TBL] [Abstract][Full Text] [Related]
9. Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol; 2007 Mar; 46(1):9-14. PubMed ID: 17389183
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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. PubMed ID: 21462283
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 16415886
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P; Nayak SS; Shukla A; Lindstrand A; Girisha KM
Clin Genet; 2019 Dec; 96(6):560-565. PubMed ID: 31411728
[TBL] [Abstract][Full Text] [Related]
17. Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?
Walpole IR; Goldblatt J; Hockey A; Knowles S
Am J Med Genet; 1991 Jun; 39(3):294-8. PubMed ID: 1867280
[TBL] [Abstract][Full Text] [Related]
18. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.
Auber B; Burfeind P; Herold S; Schoner K; Simson G; Rauskolb R; Rehder H
Clin Genet; 2007 Nov; 72(5):454-9. PubMed ID: 17935508
[TBL] [Abstract][Full Text] [Related]
19. Meckel-Gruber syndrome.
Ramachandran U; Malla T; Joshi KS
Kathmandu Univ Med J (KUMJ); 2006; 4(3):334-6. PubMed ID: 18603929
[TBL] [Abstract][Full Text] [Related]
20. Identification of a novel MKS locus defined by TMEM107 mutation.
Shaheen R; Almoisheer A; Faqeih E; Babay Z; Monies D; Tassan N; Abouelhoda M; Kurdi W; Al Mardawi E; Khalil MM; Seidahmed MZ; Alnemer M; Alsahan N; Sogaty S; Alhashem A; Singh A; Goyal M; Kapoor S; Alomar R; Ibrahim N; Alkuraya FS
Hum Mol Genet; 2015 Sep; 24(18):5211-8. PubMed ID: 26123494
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]