Meckel syndrome

Plauchu H et al. (1981) [Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].

Hsia YE et al. (1971) Genetics of the Meckel syndrome (dysencephalia splanchnocystica).

Walbaum R et al. (1967) [Familial polydactyly with neuro-cranial dysplasia].

Tucker CC et al. (1966) Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

Simopoulos AP et al. (1967) Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings.

None (1984) Johann Friedrich Meckel the Younger (1781-1833).

None (1984) Gross anatomical studies of a newborn infant with the Meckel syndrome.

Lurie IW et al. (1984) Meckel syndrome in different populations.

Salonen R et al. (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects.

Majewski F et al. (1983) Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

Fryns JP et al. (1980) Prenatal diagnosis of Meckel syndrome.

Verjaal M et al. (1980) Oligohydramnios hampering prenatal diagnosis of Meckel syndrome.

Fraser FC et al. (1981) Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

None (1981) Phenotypic variation in Meckel syndrome.

Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

Summers MC et al. (1995) Dandy-Walker malformation in the Meckel syndrome.

Nelson J et al. (1994) Polydactyly in a carrier of the gene for the Meckel syndrome.

Wright C et al. (1994) Meckel syndrome: what are the minimum diagnostic criteria?

None (1993) On Saraiva and Baraitser and Joubert syndrome: a review.

Genuardi M et al. (1993) Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

Al-Gazali LI et al. (1996) Meckel syndrome and Dandy Walker malformation.

Paavola P et al. (1997) Clinical and genetic heterogeneity in Meckel syndrome.

Gulati R et al. (1997) Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?

Castilla EE et al. (1998) Associated anomalies in individuals with polydactyly.

Paavola P et al. (1999) High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

Opitz JM et al. (2006) Meckel on developmental pathology.

Logan CV et al. (2011) Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

None (1970) Johann Friedrich Meckel, the Younger (1781-1833).

Karmous-Benailly H et al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Consugar MB et al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

None (1984) The Meckel syndrome: clinicopathological findings in 67 patients.

Kyttälä M et al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

Auber B et al. (2007) 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.

Weatherbee SD et al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

Adams M et al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.

Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Shaheen R et al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

Shaheen R et al. (2013) Mutations in TMEM231 cause Meckel-Gruber syndrome.

Ahdab-Barmada M et al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

Paavola P et al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

Roume J et al. (1998) A gene for Meckel syndrome maps to chromosome 11q13.

Frank V et al. (2008) Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Simpson JL et al. (1991) Genetic heterogeneity in neural tube defects.

Walpole IR et al. (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?

Herriot R et al. (1991) Dandy-Walker malformation in the Meckel syndrome.

Farag TI et al. (1990) Phenotypic variability in Meckel-Gruber syndrome.

Pachì A et al. (1989) Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.

Blankenberg TA et al. (1987) Pathology of renal and hepatic anomalies in Meckel syndrome.

None (1986) Distal obstructive uropathy with polydactyly: a new syndrome?

Rapola J et al. (1985) Visceral anomalies in the Meckel syndrome.

Young ID et al. (1985) High incidence of Meckel's syndrome in Gujarati Indians.

Fitch N et al. (1973) The Meckel syndrome with limited expression in relatives.

Naffah J et al. (1972) [Three new cases of Meckel's syndrome or Gruber's splanchnocystic dysencephaly in siblings. Anatomo-pathologic and cytogenetic study. Nosologic discussion].

Mecke S et al. (1971) Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.

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