Literature DB >> 27094752

Clinical utility gene card for: Meckel syndrome - update 2016.

Carsten Bergmann1,2, Valeska Frank1, Riitta Salonen3.   

Abstract

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Year:  2016        PMID： 27094752      PMCID： PMC4970697          DOI： 10.1038/ejhg.2016.33

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  13 in total

1.  Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Authors:  Valeska Frank; Nadina Ortiz Brüchle; Silke Mager; Susanna G M Frints; Axel Bohring; Gabriele du Bois; Irmgard Debatin; Heide Seidel; Jan Senderek; Nesrin Besbas; Unda Todt; Christian Kubisch; Tiemo Grimm; Fulya Teksen; Sevim Balci; Klaus Zerres; Carsten Bergmann
Journal:  Hum Mutat       Date:  2007-06       Impact factor: 4.878

2.  Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Authors:  I Filges; E Nosova; E Bruder; S Tercanli; K Townsend; W T Gibson; B Röthlisberger; K Heinimann; J G Hall; C Y Gregory-Evans; W W Wasserman; P Miny; J M Friedman
Journal:  Clin Genet       Date:  2013-11-18       Impact factor: 4.438

3.  Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Authors:  Mark B Consugar; Vickie J Kubly; Donna J Lager; Cynthia J Hommerding; Wai Chong Wong; Egbert Bakker; Vincent H Gattone; Vicente E Torres; Martijn H Breuning; Peter C Harris
Journal:  Hum Genet       Date:  2007-03-22       Impact factor: 4.132

4.  Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

Authors:  Ranad Shaheen; Eissa Faqeih; Muneera J Alshammari; Abdulrahman Swaid; Lihadh Al-Gazali; Elham Mardawi; Shinu Ansari; Sameera Sogaty; Mohammed Z Seidahmed; Muhammed I AlMotairi; Chantal Farra; Wesam Kurdi; Shatha Al-Rasheed; Fowzan S Alkuraya
Journal:  Eur J Hum Genet       Date:  2012-11-21       Impact factor: 4.246

5.  Identification of a novel MKS locus defined by TMEM107 mutation.

Authors:  Ranad Shaheen; Agaadir Almoisheer; Eissa Faqeih; Zainab Babay; Dorota Monies; Nada Tassan; Mohamed Abouelhoda; Wesam Kurdi; Elham Al Mardawi; Mohamed M I Khalil; Mohammed Zain Seidahmed; Maha Alnemer; Nada Alsahan; Samira Sogaty; Amal Alhashem; Ankur Singh; Manisha Goyal; Seema Kapoor; Rana Alomar; Niema Ibrahim; Fowzan S Alkuraya
Journal:  Hum Mol Genet       Date:  2015-06-29       Impact factor: 6.150

6.  The Meckel syndrome: clinicopathological findings in 67 patients.

Authors:  R Salonen
Journal:  Am J Med Genet       Date:  1984-08

7.  Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Authors:  Jonna Tallila; Riitta Salonen; Nicolai Kohlschmidt; Leena Peltonen; Marjo Kestilä
Journal:  Hum Mutat       Date:  2009-08       Impact factor: 4.878

8.  The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

Authors:  Helen R Dawe; Ursula M Smith; Andrew R Cullinane; Dianne Gerrelli; Phillip Cox; Jose L Badano; Sarah Blair-Reid; Nisha Sriram; Nicholas Katsanis; Tania Attie-Bitach; Simon C Afford; Andrew J Copp; Deirdre A Kelly; Keith Gull; Colin A Johnson
Journal:  Hum Mol Genet       Date:  2006-12-21       Impact factor: 6.150

Review 9.  Current insights into renal ciliopathies: what can genetics teach us?

Authors:  Heleen H Arts; Nine V A M Knoers
Journal:  Pediatr Nephrol       Date:  2012-07-25       Impact factor: 3.714

Review 10.  Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.

Authors:  Amy R Barker; Rhys Thomas; Helen R Dawe
Journal:  Organogenesis       Date:  2013-12-09       Impact factor: 2.500
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  1 in total

1.  Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1.

Authors:  Tingting Lin; Yongyi Ma; Danni Zhou; Liwei Sun; Ke Chen; Yezhou Xiang; Keya Tong; Chaoli Jia; Kean Jiang; Dongyun Liu; Guoning Huang
Journal:  Front Genet       Date:  2022-03-14       Impact factor: 4.599
  1 in total

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