PMC Articles for MedGen (Select 482359) - PMC

Select item 69916821.

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

Rui Zhang, Shaoyun Chen, Peng Han, Fangfang Chen, Shan Kuang, Zhuo Meng, Junnian Liu, Ruliang Sun, Zhiwei Wang, Xiaohong He, Yong Li, Yuanning Guan, Zhengfang Yue, Chen Li, Subrata Kumar Dey, Yuanfang Zhu, Santasree Banerjee

J Cell Mol Med. 2020 Jan; 24(2): 1906–1916. Published online 2019 Dec 15. doi: 10.1111/jcmm.14887

PMCID:: PMC6991682

Abstract Article PDF–1.4M

Select item 47950482.

Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Ingeborg Barisic, Ljubica Boban, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Jorieke EH Bergman, Paula Braz, Elizabeth S Draper, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Anna Pierini, Annette Queisser-Luft, Judith Rankin, Anke Rissmann, Christine Verellen-Dumoulin

Eur J Hum Genet. 2015 Jun; 23(6): 746–752. Published online 2014 Sep 3. doi: 10.1038/ejhg.2014.174

PMCID:: PMC4795048

Abstract Article PDF–306K

Select item 45031113.

A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China

Manli Zhang, Jing Cheng, Aijun Liu, Longxia Wang, Lihua Xiong, Meixia Chen, Yi Sun, Jianzhong Li, Yu Lu, Huijun Yuan, Yali Li, Yanping Lu

Int J Clin Exp Pathol. 2015; 8(5): 5379–5386. Published online 2015 May 1.

PMCID:: PMC4503111

Abstract Article PDF–1.2M

Select item 27833844.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal Esculpavit, Marie Gonzales, Estelle Escudier, Bruno Leheup, Philippe Loget, Sylvie Odent, Joëlle Roume, Marion Gérard, Anne-Lise Delezoide, Suonavy Khung, Sophie Patrier, Marie-Pierre Cordier, Raymonde Bouvier, Jéléna Martinovic, Marie-Claire Gubler, Nathalie Boddaert, Arnold Munnich, Férechté Encha-Razavi, Enza Maria Valente, Ali Saad, Sophie Saunier, Michel Vekemans, Tania Attié-Bitach

Hum Mutat. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Hum Mutat. 2009 Nov; 30(11): 1574–1582. doi: 10.1002/humu.21116

PMCID:: PMC2783384

Abstract Article PDF–1.2M

Select item 17853135.

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala, Stéphane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Arnold Munnich, Stanislas Lyonnet, Rémi Salomon, Férechté Encha-Razavi, Marie-Claire Gubler, Nathalie Boddaert, Pascale de Lonlay, Colin A. Johnson, Michel Vekemans, Corinne Antignac, Tania Attié-Bitach

Am J Hum Genet. 2007 Jan; 80(1): 186–194. Published online 2006 Nov 15. doi: 10.1086/510499

PMCID:: PMC1785313

Abstract Article PDF–2.0M

Select item 13774946.

A gene for Meckel syndrome maps to chromosome 11q13.

J Roume, E Genin, V Cormier-Daire, H W Ma, B Mehaye, T Attie, F Razavi-Encha, C Fallet-Bianco, A Buenerd, F Clerget-Darpoux, A Munnich, M Le Merrer

Am J Hum Genet. 1998 Oct; 63(4): 1095–1101. doi: 10.1086/302062

PMCID:: PMC1377494

Abstract

Select item 10511527.

Genetic heterogeneity of Meckel syndrome.

J Roume, H W Ma, M Le Merrer, V Cormier-Daire, D Girlich, E Genin, A Munnich

J Med Genet. 1997 Dec; 34(12): 1003–1006. doi: 10.1136/jmg.34.12.1003

PMCID:: PMC1051152

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