PubMed for id: 1809650

Year	Number of Results
1983	1
1984	1
2009	1
2012	2
2014	2
2015	3
2016	3
2021	2
2022	2
2024	0

1

Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.

Zhang P, Wu B, Wang Y, Ren Y, Li G, Qan Y, Lei C, Wang H. Zhang P, et al. Reprod Sci. 2022 Aug;29(8):2200-2207. doi: 10.1007/s43032-022-00898-y. Epub 2022 Mar 1. Reprod Sci. 2022. PMID: 35233738

2

The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.

Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N, Bergmann C. Epting D, et al. Hum Mol Genet. 2022 Jul 21;31(14):2295-2306. doi: 10.1093/hmg/ddac027. Hum Mol Genet. 2022. PMID: 35137054

3

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA. Barroso-Gil M, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1603. doi: 10.1002/mgg3.1603. Epub 2021 Jan 24. Mol Genet Genomic Med. 2021. PMID: 33486889 Free PMC article.

4

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.

Lange KI, Tsiropoulou S, Kucharska K, Blacque OE. Lange KI, et al. Dis Model Mech. 2021 Jan 1;14(1):dmm046631. doi: 10.1242/dmm.046631. Epub 2021 Jan 26. Dis Model Mech. 2021. PMID: 33234550 Free PMC article.

5

Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes.

Dean S, Moreira-Leite F, Varga V, Gull K. Dean S, et al. Proc Natl Acad Sci U S A. 2016 Aug 30;113(35):E5135-43. doi: 10.1073/pnas.1604258113. Epub 2016 Aug 12. Proc Natl Acad Sci U S A. 2016. PMID: 27519801 Free PMC article.

6

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Rivière JB, Faivre L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM, Leroux MR. Li C, et al. PLoS Biol. 2016 Mar 16;14(3):e1002416. doi: 10.1371/journal.pbio.1002416. eCollection 2016 Mar. PLoS Biol. 2016. PMID: 26982032 Free PMC article.

7

Hepatorenal fibrocystic diseases in children.

Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI. Park E, et al. Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11. Pediatr Nephrol. 2016. PMID: 26260382

8

NDRC: A Disease-Causing Genes Prioritized Method Based on Network Diffusion and Rank Concordance.

Fang M, Hu X, Wang Y, Zhao J, Shen X, He T. Fang M, et al. IEEE Trans Nanobioscience. 2015 Jul;14(5):521-7. doi: 10.1109/TNB.2015.2443852. Epub 2015 Jun 12. IEEE Trans Nanobioscience. 2015. PMID: 26080386

9

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. Seidahmed MZ, et al. Saudi Med J. 2014 Dec;35 Suppl 1(Suppl 1):S49-56. Saudi Med J. 2014. PMID: 25551112 Free PMC article.

10

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

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.

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