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Items: 1 to 20 of 24

1.

Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives.

Mohamed S, Ibrahim F, Kamil K, Satti SA.

Sudan J Paediatr. 2012;12(2):70-2.

2.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT.

BMC Med Genet. 2016 Jan 4;17:1. doi: 10.1186/s12881-015-0265-z.

3.

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF.

J Cell Biol. 2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087.

4.

The Hedgehog pathway: role in cell differentiation, polarity and proliferation.

Jia Y, Wang Y, Xie J.

Arch Toxicol. 2015 Feb;89(2):179-91. doi: 10.1007/s00204-014-1433-1. Epub 2015 Jan 6. Review.

5.

Classification, clinical features, and genetics of neural tube defects.

Salih MA, Murshid WR, Seidahmed MZ.

Saudi Med J. 2014 Dec;35 Suppl 1:S5-S14. Review.

6.

Genetic, chromosomal, and syndromic causes of neural tube defects.

Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Samadi AS, Khalil MI, Al-Mardawi E, Salih MA.

Saudi Med J. 2014 Dec;35 Suppl 1:S49-56.

7.

Genetics and genomic medicine in Saudi Arabia.

Alkuraya FS.

Mol Genet Genomic Med. 2014 Sep;2(5):369-78. doi: 10.1002/mgg3.97. Epub 2014 Jul 30. No abstract available.

8.

Tectonic gene mutations in patients with Joubert syndrome.

Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C.

Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13. Review.

9.

Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.

Barker AR, Renzaglia KS, Fry K, Dawe HR.

BMC Genomics. 2014 Jun 26;15:531. doi: 10.1186/1471-2164-15-531.

10.

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

Barker AR, Thomas R, Dawe HR.

Organogenesis. 2014 Jan 1;10(1):96-107. doi: 10.4161/org.27375. Epub 2013 Dec 9. Review.

11.

The role of primary cilia in the development and disease of the retina.

Wheway G, Parry DA, Johnson CA.

Organogenesis. 2014 Jan 1;10(1):69-85. doi: 10.4161/org.26710. Epub 2013 Oct 25. Review.

12.

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Leightner AC, Hommerding CJ, Peng Y, Salisbury JL, Gainullin VG, Czarnecki PG, Sussman CR, Harris PC.

Hum Mol Genet. 2013 May 15;22(10):2024-40. doi: 10.1093/hmg/ddt054. Epub 2013 Feb 7.

13.

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

Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS.

Eur J Hum Genet. 2013 Jul;21(7):762-8. doi: 10.1038/ejhg.2012.254. Epub 2012 Nov 21.

14.

TCTN3 mutations cause Mohr-Majewski syndrome.

Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T.

Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.

15.

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS.

Am J Hum Genet. 2012 Aug 10;91(2):330-6. doi: 10.1016/j.ajhg.2012.05.025. Epub 2012 Jul 26.

16.

The ciliopathies: a transitional model into systems biology of human genetic disease.

Davis EE, Katsanis N.

Curr Opin Genet Dev. 2012 Jun;22(3):290-303. doi: 10.1016/j.gde.2012.04.006. Epub 2012 May 23. Review.

17.

The ciliary transition zone: from morphology and molecules to medicine.

Czarnecki PG, Shah JV.

Trends Cell Biol. 2012 Apr;22(4):201-10. doi: 10.1016/j.tcb.2012.02.001. Epub 2012 Mar 6. Review.

18.

Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.

Collin GB, Won J, Hicks WL, Cook SA, Nishina PM, Naggert JK.

Invest Ophthalmol Vis Sci. 2012 Feb 23;53(2):967-74. doi: 10.1167/iovs.11-8766. Print 2012 Feb.

19.

A meckelin-filamin A interaction mediates ciliogenesis.

Adams M, Simms RJ, Abdelhamed Z, Dawe HR, Szymanska K, Logan CV, Wheway G, Pitt E, Gull K, Knowles MA, Blair E, Cross SH, Sayer JA, Johnson CA.

Hum Mol Genet. 2012 Mar 15;21(6):1272-86. doi: 10.1093/hmg/ddr557. Epub 2011 Nov 25.

20.

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS.

Am J Hum Genet. 2011 Dec 9;89(6):745-50. doi: 10.1016/j.ajhg.2011.10.011. Epub 2011 Nov 17.

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