Literature DB >> 21368913

Clinical utility gene card for: Meckel syndrome.

R Salonen1, M Kestilä, C Bergmann.   

Abstract

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Year:  2011        PMID： 21368913      PMCID： PMC3137490          DOI： 10.1038/ejhg.2010.255

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


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

Authors:  Mira Kyttälä; Jonna Tallila; Riitta Salonen; Outi Kopra; Nicolai Kohlschmidt; Paulina Paavola-Sakki; Leena Peltonen; Marjo Kestilä
Journal:  Nat Genet       Date:  2006-01-15       Impact factor: 38.330

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

Authors:  Ursula M Smith; Mark Consugar; Louise J Tee; Brandy M McKee; Esther N Maina; Shelly Whelan; Neil V Morgan; Erin Goranson; Paul Gissen; Stacie Lilliquist; Irene A Aligianis; Christopher J Ward; Shanaz Pasha; Rachaneekorn Punyashthiti; Saghira Malik Sharif; Philip A Batman; Christopher P Bennett; C Geoffrey Woods; Carole McKeown; Martine Bucourt; Caroline A Miller; Phillip Cox; Lihadh Algazali; Richard C Trembath; Vicente E Torres; Tania Attie-Bitach; Deirdre A Kelly; Eamonn R Maher; Vincent H Gattone; Peter C Harris; Colin A Johnson
Journal:  Nat Genet       Date:  2006-01-15       Impact factor: 38.330

4.  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

5.  Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Authors:  Enza Maria Valente; Clare V Logan; Soumaya Mougou-Zerelli; Jeong Ho Lee; Jennifer L Silhavy; Francesco Brancati; Miriam Iannicelli; Lorena Travaglini; Sveva Romani; Barbara Illi; Matthew Adams; Katarzyna Szymanska; Annalisa Mazzotta; Ji Eun Lee; Jerlyn C Tolentino; Dominika Swistun; Carmelo D Salpietro; Carmelo Fede; Stacey Gabriel; Carsten Russ; Kristian Cibulskis; Carrie Sougnez; Friedhelm Hildebrandt; Edgar A Otto; Susanne Held; Bill H Diplas; Erica E Davis; Mario Mikula; Charles M Strom; Bruria Ben-Zeev; Dorit Lev; Tally Lerman Sagie; Marina Michelson; Yuval Yaron; Amanda Krause; Eugen Boltshauser; Nadia Elkhartoufi; Joelle Roume; Stavit Shalev; Arnold Munnich; Sophie Saunier; Chris Inglehearn; Ali Saad; Adila Alkindy; Sophie Thomas; Michel Vekemans; Bruno Dallapiccola; Nicholas Katsanis; Colin A Johnson; Tania Attié-Bitach; Joseph G Gleeson
Journal:  Nat Genet       Date:  2010-05-30       Impact factor: 38.330

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

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

7.  Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Authors:  Rana Khaddour; Ursula Smith; Lekbir Baala; Jéléna Martinovic; Davina Clavering; Rizwana Shaffiq; Catherine Ozilou; Andrew Cullinane; Mira Kyttälä; Stavit Shalev; Sophie Audollent; Camille d'Humières; Noman Kadhom; Chantal Esculpavit; Géraldine Viot; Claire Boone; Christine Oien; Férechté Encha-Razavi; Philip A Batman; Christopher P Bennett; C Geoffrey Woods; Joelle Roume; Stanislas Lyonnet; Emmanuelle Génin; Martine Le Merrer; Arnold Munnich; Marie-Claire Gubler; Phillip Cox; Fiona Macdonald; Michel Vekemans; Colin A Johnson; Tania Attié-Bitach
Journal:  Hum Mutat       Date:  2007-05       Impact factor: 4.878

8.  Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Authors:  Lekbir Baala; Sophie Audollent; Jéléna Martinovic; Catherine Ozilou; Marie-Claude Babron; Sivanthiny Sivanandamoorthy; Sophie Saunier; Rémi Salomon; Marie Gonzales; Eleanor Rattenberry; Chantal Esculpavit; Annick Toutain; Claude Moraine; Philippe Parent; Pascale Marcorelles; Marie-Christine Dauge; Joëlle Roume; Martine Le Merrer; Vardiella Meiner; Karen Meir; Françoise Menez; Anne-Marie Beaufrère; Christine Francannet; Julia Tantau; Martine Sinico; Yves Dumez; Fiona MacDonald; Arnold Munnich; Stanislas Lyonnet; Marie-Claire Gubler; Emmanuelle Génin; Colin A Johnson; Michel Vekemans; Férechté Encha-Razavi; Tania Attié-Bitach
Journal:  Am J Hum Genet       Date:  2007-06-04       Impact factor: 11.025

9.  The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Authors:  Marion Delous; Lekbir Baala; Rémi Salomon; Christine Laclef; Jeanette Vierkotten; Kàlmàn Tory; Christelle Golzio; Tiphanie Lacoste; Laurianne Besse; Catherine Ozilou; Imane Moutkine; Nathan E Hellman; Isabelle Anselme; Flora Silbermann; Christine Vesque; Christoph Gerhardt; Eleanor Rattenberry; Matthias T F Wolf; Marie Claire Gubler; Jéléna Martinovic; Féréchté Encha-Razavi; Nathalie Boddaert; Marie Gonzales; Marie Alice Macher; Hubert Nivet; Gérard Champion; Jean Pierre Berthélémé; Patrick Niaudet; Fiona McDonald; Friedhelm Hildebrandt; Colin A Johnson; Michel Vekemans; Corinne Antignac; Ulrich Rüther; Sylvie Schneider-Maunoury; Tania Attié-Bitach; Sophie Saunier
Journal:  Nat Genet       Date:  2007-06-10       Impact factor: 38.330

10.  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
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  3 in total

1.  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

2.  Detection of copy number variants reveals association of cilia genes with neural tube defects.

Authors:  Xiaoli Chen; Yiping Shen; Yonghui Gao; Huizhi Zhao; Xiaoming Sheng; Jizhen Zou; Va Lip; Hua Xie; Jin Guo; Hong Shao; Yihua Bao; Jianliang Shen; Bo Niu; James F Gusella; Bai-Lin Wu; Ting Zhang
Journal:  PLoS One       Date:  2013-01-17       Impact factor: 3.240

3.  DDA: A Novel Network-Based Scoring Method to Identify Disease-Disease Associations.

Authors:  Apichat Suratanee; Kitiporn Plaimas
Journal:  Bioinform Biol Insights       Date:  2015-12-08
  3 in total

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