(Q36772085)

16 August 2017

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title

Meckel syndrome: genetics, perinatal findings, and differential diagnosis (English)

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16 August 2017

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Chih-Ping Chen

1

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16 August 2017

publication date

1 March 2007

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Taiwanese Journal of Obstetrics & Gynecology

16 August 2017

published in

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16 August 2017

volume

46

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16 August 2017

issue

1

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16 August 2017

page(s)

9-14

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The Meckel syndrome in Finland: epidemiologic and genetic aspects

16 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Johann Friedrich Meckel the Younger (1781-1833)

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https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Meckel on developmental pathology.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

A gene for Meckel syndrome maps to chromosome 11q13.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

The beat goes on: ciliary proteins are defective in Meckel syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Development of multiorgan pathology in the wpk rat model of polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

First-trimester ultrasound diagnosis of Meckel-Grüber syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Meckel-Grüber syndrome: sonography and pathology

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

The Meckel syndrome: clinicopathological findings in 67 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

Identification of the gene for oral-facial-digital type I syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960100-X

7 January 2021

10.1016/S1028-4559(08)60100-X

Identifiers

DOI

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16 August 2017

1 reference